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
ATAD3B	83858	broad.mit.edu	37	1	1430883	1430883	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:1430883A>G	uc001afv.2	+	16	1734	c.1633A>G	c.(1633-1635)AAG>GAG	p.K545E	ATAD3B_uc001afx.2_Missense_Mutation_p.K499E|ATAD3B_uc001afy.2_Missense_Mutation_p.K98E	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	545							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATATGCCTCCAAGGACGGGGT	0.642												
NPHP4	261734	broad.mit.edu	37	1	5940242	5940242	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:5940242C>T	uc001alq.1	-	19	2809	c.2543G>A	c.(2542-2544)CGG>CAG	p.R848Q	NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	848					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGATGACCCGAGATCTGGA	0.522												
TAS1R1	80835	broad.mit.edu	37	1	6637105	6637105	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:6637105G>A	uc001ant.2	+	5	1569	c.1569G>A	c.(1567-1569)GGG>GGA	p.G523G	TAS1R1_uc001anu.2_Silent_p.G269G|TAS1R1_uc001anv.2_Silent_p.G269G|TAS1R1_uc001anw.2_Intron|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	523	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGCCCTGTGGGGCTGGGACCT	0.612												
KLHL21	9903	broad.mit.edu	37	1	6659418	6659418	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:6659418G>A	uc001aoa.2	-	2	1168	c.1116C>T	c.(1114-1116)CGC>CGT	p.R372R	KLHL21_uc001anz.1_Silent_p.R372R|KLHL21_uc009vme.2_Silent_p.R5R	NM_014851	NP_055666	Q9UJP4	KLH21_HUMAN	kelch-like 21	372	Kelch 2.				anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)	1	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		TGTGGTACTCGCGGGCCTTCA	0.647												
MTHFR	4524	broad.mit.edu	37	1	11856376	11856376	+	Missense_Mutation	SNP	C	C	T	rs150847674	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:11856376C>T	uc001atc.1	-	5	851	c.667G>A	c.(667-669)GAT>AAT	p.D223N	MTHFR_uc001atb.1_Missense_Mutation_p.D246N	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	223					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				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)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ATGATGAAATCGGCTCCCGCA	0.552												
MFN2	9927	broad.mit.edu	37	1	12058853	12058853	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12058853T>C	uc001atn.3	+	7	1079	c.626T>C	c.(625-627)CTG>CCG	p.L209P	MFN2_uc009vni.2_Missense_Mutation_p.L209P	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	209	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACCACAGAGCTGGACAGCTGG	0.522												
VPS13D	55187	broad.mit.edu	37	1	12371978	12371978	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12371978G>A	uc001atv.2	+	29	7072	c.6931G>A	c.(6931-6933)GCC>ACC	p.A2311T	VPS13D_uc001atw.2_Missense_Mutation_p.A2311T|VPS13D_uc001atx.2_Missense_Mutation_p.A1499T|VPS13D_uc001aty.1_Missense_Mutation_p.A49T	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2311					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TGGGTCCCTAGCCAGGTATGC	0.343												
AADACL3	126767	broad.mit.edu	37	1	12785289	12785289	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12785289C>T	uc009vnn.1	+	4	612	c.379C>T	c.(379-381)CCA>TCA	p.P127S	AADACL3_uc001aug.1_Missense_Mutation_p.P57S	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3 isoform 1	127							hydrolase activity				0	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|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;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGTGGATCCAGCCCGGGT	0.557												
PRAMEF10	343071	broad.mit.edu	37	1	12954532	12954532	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:12954532C>T	uc001auo.2	-	3	824	c.751G>A	c.(751-753)GTC>ATC	p.V251I		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	PRAME family member 10	251											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCACTGGACGCTCACGTAC	0.458												
PRDM2	7799	broad.mit.edu	37	1	14107072	14107072	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:14107072G>A	uc001avi.2	+	8	3638	c.2782G>A	c.(2782-2784)GGT>AGT	p.G928S	PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.G928S|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.G727S|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	928						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCTGACCTCGGTCCGGGCTC	0.532												
SLC25A34	284723	broad.mit.edu	37	1	16064618	16064618	+	Missense_Mutation	SNP	C	C	T	rs139368754		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:16064618C>T	uc001axb.1	+	3	647	c.475C>T	c.(475-477)CGG>TGG	p.R159W	SLC25A34_uc009vok.1_5'Flank	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	159	Solcar 2.				transport	integral to membrane|mitochondrial inner membrane					0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCATCTGGCGGCAGCAAGG	0.682												
SPEN	23013	broad.mit.edu	37	1	16256110	16256110	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:16256110G>A	uc001axk.1	+	11	3579	c.3375G>A	c.(3373-3375)GAG>GAA	p.E1125E	SPEN_uc010obp.1_Silent_p.E1084E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	1125					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGACCAGAGAGAGAAGACG	0.398												
ARHGEF10L	55160	broad.mit.edu	37	1	17983158	17983158	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:17983158G>A	uc001ban.2	+	25	2974	c.2815G>A	c.(2815-2817)GCT>ACT	p.A939T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A900T|ARHGEF10L_uc001bao.2_Missense_Mutation_p.A900T|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A895T|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A700T|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A712T|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A642T|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	939					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CCACCTGCTCGCTGGCCTGCA	0.667												
TAS1R2	80834	broad.mit.edu	37	1	19166209	19166209	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:19166209C>T	uc001bba.1	-	6	2405	c.2404G>A	c.(2404-2406)GCC>ACC	p.A802T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	802	Helical; Name=7; (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGCTGATGGCCAGGAGGTTG	0.582												
UBR4	23352	broad.mit.edu	37	1	19439226	19439226	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:19439226C>A	uc001bbi.2	-	78	11597	c.11593G>T	c.(11593-11595)GGC>TGC	p.G3865C	UBR4_uc001bbj.1_3'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3865					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)		GATGTGTGGCCACAGCCCAGG	0.592												
TMCO4	255104	broad.mit.edu	37	1	20072102	20072102	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:20072102G>A	uc001bcn.2	-	10	1042	c.800C>T	c.(799-801)ACG>ATG	p.T267M	TMCO4_uc001bcm.2_Intron|TMCO4_uc001bco.1_Missense_Mutation_p.T267M|TMCO4_uc001bcp.1_Intron|TMCO4_uc009vpn.1_Missense_Mutation_p.T267M|TMCO4_uc001bcq.1_Missense_Mutation_p.T267M	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	267						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)		AGGCAGAAACGTGAACTCTTC	0.572												
HP1BP3	50809	broad.mit.edu	37	1	21091980	21091980	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:21091980C>A	uc001bdw.1	-	8	920	c.780G>T	c.(778-780)GAG>GAT	p.E260D	HP1BP3_uc001bdv.1_Missense_Mutation_p.E222D|HP1BP3_uc010odh.1_Missense_Mutation_p.E222D|HP1BP3_uc001bdy.1_Missense_Mutation_p.E260D|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E259D|HP1BP3_uc010odf.1_Translation_Start_Site|HP1BP3_uc010odg.1_Missense_Mutation_p.E108D	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	HP1-BP74	260	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|skin(1)	2		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GGAGGACATCCTCCAATTTTA	0.378												
HSPG2	3339	broad.mit.edu	37	1	22150185	22150185	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:22150185G>A	uc001bfj.2	-	96	12967	c.12927C>T	c.(12925-12927)GTC>GTT	p.V4309V	LDLRAD2_uc001bfg.1_3'UTR|HSPG2_uc001bfi.2_Silent_p.V326V|HSPG2_uc009vqd.2_Silent_p.V4310V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4309	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCTCACCGTCGACTTGGATGG	0.647												
HSPG2	3339	broad.mit.edu	37	1	22178102	22178102	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:22178102G>A	uc001bfj.2	-	55	7135	c.7095C>T	c.(7093-7095)CCC>CCT	p.P2365P	HSPG2_uc009vqd.2_Silent_p.P2366P	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2365	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGACTGCCCGGGCACCACGC	0.657												
EPHB2	2048	broad.mit.edu	37	1	23191603	23191603	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:23191603C>A	uc009vqj.1	+	5	1346	c.1201C>A	c.(1201-1203)CAC>AAC	p.H401N	EPHB2_uc001bge.2_Missense_Mutation_p.H401N|EPHB2_uc001bgf.2_Missense_Mutation_p.H401N|EPHB2_uc010odu.1_Missense_Mutation_p.H401N|hsa-mir-4253|MI0015860_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	401	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTGCTGGCCCACACCCAGTA	0.622									Hereditary_Prostate_Cancer			
IL22RA1	58985	broad.mit.edu	37	1	24447502	24447502	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:24447502G>A	uc001biq.1	-	7	1557	c.1518C>T	c.(1516-1518)GGC>GGT	p.G506G	IL22RA1_uc010oeg.1_Silent_p.G438G|IL22RA1_uc009vrb.1_Silent_p.G370G|IL22RA1_uc010oeh.1_3'UTR	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1 precursor	506	Cytoplasmic (Potential).					integral to membrane	interferon receptor activity			skin(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACATGGGGTGGCCCTCGATCT	0.602												
STMN1	3925	broad.mit.edu	37	1	26230136	26230136	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:26230136C>T	uc001bkz.2	-	3	546	c.182G>A	c.(181-183)CGC>CAC	p.R61H	STMN1_uc010oev.1_Missense_Mutation_p.R61H|STMN1_uc001bla.2_Missense_Mutation_p.R61H|STMN1_uc001blb.2_Missense_Mutation_p.R61H|STMN1_uc001blc.2_Missense_Mutation_p.R61H	NM_203401	NP_981946	P16949	STMN1_HUMAN	stathmin 1 isoform a	61	Potential.				cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding				0		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		GTTTACCTTGCGTCTTTCTTC	0.373												
PAFAH2	5051	broad.mit.edu	37	1	26303254	26303254	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:26303254T>C	uc001bld.3	-	8	857	c.677A>G	c.(676-678)GAC>GGC	p.D226G	PAFAH2_uc001ble.3_Missense_Mutation_p.D226G	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2	226					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			ovary(2)	2		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACGGCTCATGTCAATGTTGCC	0.483												
GPATCH3	63906	broad.mit.edu	37	1	27224070	27224070	+	Missense_Mutation	SNP	G	G	A	rs144011521	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:27224070G>A	uc001bne.2	-	2	627	c.598C>T	c.(598-600)CGG>TGG	p.R200W	GPATCH3_uc009vsp.1_Missense_Mutation_p.R11W	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	200						intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		AAAAAGACCCGCAGGGGAGTC	0.622												
PPP1R8	5511	broad.mit.edu	37	1	28176658	28176658	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:28176658C>T	uc001bov.1	+	7	811	c.757C>T	c.(757-759)CGC>TGC	p.R253C	PPP1R8_uc001bow.1_Missense_Mutation_p.R111C|PPP1R8_uc001box.1_Missense_Mutation_p.R29C|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA	NM_014110	NP_054829	Q12972	PP1R8_HUMAN	protein phosphatase 1 regulatory inhibitor	253					mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding				0		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGAGCAGGCGCATGCAGAA	0.607												
TSSK3	81629	broad.mit.edu	37	1	32829237	32829237	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:32829237C>T	uc001bvf.2	+	2	628	c.187C>T	c.(187-189)CGT>TGT	p.R63C	uc001bve.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	63	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R63G(1)		stomach(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				CCAAATCGTCCGTACCCTGGA	0.557												
PHC2	1912	broad.mit.edu	37	1	33836036	33836036	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:33836036G>A	uc001bxg.1	-	4	616	c.562C>T	c.(562-564)CTG>TTG	p.L188L	PHC2_uc001bxh.1_Silent_p.L188L|PHC2_uc009vuh.1_Silent_p.L188L|PHC2_uc001bxi.1_Silent_p.L188L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	polyhomeotic-like 2 isoform a	188					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGTGCCCTCAGATACATCTGT	0.607												
ZMYM6	9204	broad.mit.edu	37	1	35496158	35496158	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:35496158T>C	uc001byh.2	-	2	311	c.83A>G	c.(82-84)GAC>GGC	p.D28G	ZMYM6_uc001byf.1_Missense_Mutation_p.D28G|ZMYM6_uc010oht.1_Intron|ZMYM6_uc009vup.2_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.D28G|ZMYM6_uc009vur.1_5'UTR|ZMYM6_uc001byj.2_Missense_Mutation_p.D28G|ZMYM6_uc001byi.2_Missense_Mutation_p.D28G|ZMYM6_uc001byk.2_Missense_Mutation_p.D28G	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	zinc finger protein 258	28					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTGAGCATTGTCTGGTTCTTC	0.343												
MAP7D1	55700	broad.mit.edu	37	1	36638990	36638990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:36638990G>A	uc001bzz.2	+	5	866	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	MAP7D1_uc001caa.2_Missense_Mutation_p.R217Q|MAP7D1_uc001cab.2_Missense_Mutation_p.R217Q|MAP7D1_uc001cac.2_5'UTR	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	217	Potential.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)				GCCATCCAACGGTCAGTGAAG	0.577												
MACF1	23499	broad.mit.edu	37	1	39747967	39747967	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:39747967T>C	uc010ois.1	+	8	836	c.631T>C	c.(631-633)TAC>CAC	p.Y211H	MACF1_uc001cda.1_Missense_Mutation_p.Y119H|MACF1_uc010oit.1_Missense_Mutation_p.Y174H	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	211	Actin-binding.|CH 2.				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)			GACAGCTGGTTACACAGGAAT	0.463												
ZNF691	51058	broad.mit.edu	37	1	43317311	43317311	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:43317311G>A	uc001cih.2	+	2	814	c.763G>A	c.(763-765)GAG>AAG	p.E255K	ZNF691_uc001cig.2_Missense_Mutation_p.E228K|ZNF691_uc009vwm.2_Missense_Mutation_p.E248K	NM_015911	NP_056995	Q5VV52	ZN691_HUMAN	zinc finger protein 691	259	C2H2-type 6.					nucleus	DNA binding|zinc ion binding			ovary(2)	2	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAGTGCACTGAGTGTGGGCG	0.567												
DPH2	1802	broad.mit.edu	37	1	44435850	44435850	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:44435850G>T	uc001ckz.2	+	1	198	c.3G>T	c.(1-3)ATG>ATT	p.M1I	DPH2_uc001cla.2_Missense_Mutation_p.M1I|DPH2_uc010okk.1_5'UTR|DPH2_uc001clb.2_5'UTR	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	diphthamide biosynthesis protein 2 isoform a	1					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGTGCCTCATGGAGTCGATGT	0.647												
PLK3	1263	broad.mit.edu	37	1	45267574	45267574	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:45267574C>T	uc001cmn.2	+	5	723	c.623C>T	c.(622-624)GCC>GTC	p.A208V	PLK3_uc001cmo.2_RNA	NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	208	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity				0	Acute lymphoblastic leukemia(166;0.155)					GGGCTGGCAGCCCGGTTGGAG	0.468												
HECTD3	79654	broad.mit.edu	37	1	45474833	45474833	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:45474833C>T	uc009vxk.2	-	7	1153	c.1055G>A	c.(1054-1056)CGC>CAC	p.R352H	HECTD3_uc001cmy.3_5'Flank|HECTD3_uc010olh.1_Missense_Mutation_p.R68H|UROD_uc010oli.1_5'Flank|UROD_uc001cna.1_5'Flank|UROD_uc001cnb.1_5'Flank	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	HECT domain containing 3	352	DOC.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity				0	Acute lymphoblastic leukemia(166;0.155)					CTCCACGATGCGGATCTCGAT	0.562												
ZCCHC11	23318	broad.mit.edu	37	1	52891135	52891135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:52891135C>T	uc001ctx.2	-	29	4987	c.4753G>A	c.(4753-4755)GCA>ACA	p.A1585T	ZCCHC11_uc001cty.2_Missense_Mutation_p.A1586T|ZCCHC11_uc001ctz.2_Missense_Mutation_p.A1581T	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11 isoform	1585	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3						GGACGCGGTGCATGTTCCCAA	0.468												
C1orf177	163747	broad.mit.edu	37	1	55282678	55282678	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:55282678G>A	uc001cyb.3	+	9	1121	c.1067G>A	c.(1066-1068)GGC>GAC	p.G356D	C1orf177_uc001cya.3_Missense_Mutation_p.G356D	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	hypothetical protein LOC163747 isoform 2	356											0						GTAGGTGTGGGCCGCTACCTC	0.577												
C8A	731	broad.mit.edu	37	1	57340695	57340695	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:57340695C>T	uc001cyo.2	+	3	377	c.245C>T	c.(244-246)GCC>GTC	p.A82V		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	82	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3						TGGGATCAAGCCAGCTGCTCC	0.483												
CYP2J2	1573	broad.mit.edu	37	1	60381679	60381679	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:60381679T>C	uc001czq.2	-	2	309	c.304A>G	c.(304-306)ATC>GTC	p.I102V		NM_000775	NP_000766	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J,	102					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity			ovary(1)	1	all_cancers(7;0.000396)					TCCATGTGGATAAGGGCTTCT	0.423												
DNAJC6	9829	broad.mit.edu	37	1	65874367	65874367	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:65874367T>C	uc001dcd.1	+	17	2528	c.2364T>C	c.(2362-2364)GGT>GGC	p.G788G	DNAJC6_uc010opc.1_Silent_p.G775G|DNAJC6_uc001dce.1_Silent_p.G845G	NM_014787	NP_055602	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	788					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						TACTCTCTGGTCAAGGTTTCA	0.373												
LRRC7	57554	broad.mit.edu	37	1	70504797	70504797	+	Missense_Mutation	SNP	T	T	C	rs139023629		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:70504797T>C	uc001dep.2	+	19	3206	c.3176T>C	c.(3175-3177)GTG>GCG	p.V1059A	LRRC7_uc009wbg.2_Missense_Mutation_p.V343A|LRRC7_uc001deq.2_Missense_Mutation_p.V300A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1059						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						CCCGAGTACGTGCAACAGGCC	0.448												
C1orf173	127254	broad.mit.edu	37	1	75097397	75097397	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:75097397C>T	uc001dgg.2	-	7	1038	c.819G>A	c.(817-819)AAG>AAA	p.K273K	C1orf173_uc001dgi.3_Silent_p.K67K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	273										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						CCATAATCACCTTTGTCAAAA	0.338												
DNAJB4	11080	broad.mit.edu	37	1	78478866	78478866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:78478866C>T	uc001dij.2	+	2	502	c.343C>T	c.(343-345)CGA>TGA	p.R115*	DNAJB4_uc010orn.1_Translation_Start_Site	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	115					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding				0						CTTTGGAAGACGAATGGGTGG	0.438												
ABCA4	24	broad.mit.edu	37	1	94578618	94578618	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:94578618C>T	uc001dqh.2	-	2	175	c.71G>A	c.(70-72)CGC>CAC	p.R24H	ABCA4_uc010otn.1_Missense_Mutation_p.R24H	NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	24	Helical; (Potential).		R -> H (in STGD1).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CACCACAAAGCGAATCTGGAA	0.428												
LPPR4	9890	broad.mit.edu	37	1	99771300	99771300	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:99771300C>T	uc001dse.2	+	7	1132	c.1026C>T	c.(1024-1026)GAC>GAT	p.D342D	LPPR4_uc010oue.1_Silent_p.D284D	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	plasticity related gene 1	342							phosphatidate phosphatase activity			ovary(3)	3		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCACAGAGACGCCCTCAGGT	0.453												
WDR47	22911	broad.mit.edu	37	1	109538449	109538449	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:109538449T>C	uc001dwj.2	-	8	1820	c.1444A>G	c.(1444-1446)AAG>GAG	p.K482E	WDR47_uc001dwl.2_Missense_Mutation_p.K490E|WDR47_uc001dwi.2_Missense_Mutation_p.K483E|WDR47_uc001dwk.2_Missense_Mutation_p.K454E|WDR47_uc010ovf.1_Missense_Mutation_p.K409E	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	482										ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TCACCAAGCTTTTGAATGGAC	0.313												
KCNA3	3738	broad.mit.edu	37	1	111216731	111216731	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:111216731C>T	uc001dzv.1	-	1	925	c.701G>A	c.(700-702)CGG>CAG	p.R234Q		NM_002232	NP_002223	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related	234						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			ovary(4)|pancreas(1)	5		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCGATGCCCCGGGCCGGCCC	0.682												
C1orf88	128344	broad.mit.edu	37	1	111891167	111891167	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:111891167G>T	uc001eaw.2	+	4	368	c.288G>T	c.(286-288)CAG>CAT	p.Q96H	C1orf88_uc001eax.2_Missense_Mutation_p.Q63H|C1orf88_uc009wge.1_Intron|C1orf88_uc001eay.2_Missense_Mutation_p.Q9H	NM_181643	NP_857594	Q8TCI5	CA088_HUMAN	hypothetical protein LOC128344	96										ovary(1)|skin(1)	2		all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCAGGTACCAGAAAGTAAGTC	0.378												
DENND2C	163259	broad.mit.edu	37	1	115079372	115079372	+	RNA	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:115079372G>T	uc001eez.2	-	29		c.4271C>A				NM_198459		Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCCATGAAGTTAGGGAGGC	0.498												
IGSF3	3321	broad.mit.edu	37	1	117127667	117127667	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:117127667G>A	uc001egr.1	-	9	3153	c.2448C>T	c.(2446-2448)CGC>CGT	p.R816R	IGSF3_uc001egq.1_Silent_p.R836R|IGSF3_uc001egs.1_Silent_p.R489R	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	816	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGAGCCTCAGGCGGCTGTCTG	0.567												
PDE4DIP	9659	broad.mit.edu	37	1	145015901	145015901	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:145015901G>A	uc001elx.3	-	3	522	c.187C>T	c.(187-189)CCC>TCC	p.P63S	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elm.3_5'UTR|PDE4DIP_uc001eln.3_Missense_Mutation_p.P63S|PDE4DIP_uc001elo.2_Missense_Mutation_p.P134S|PDE4DIP_uc001emh.2_Missense_Mutation_p.P134S|uc001emj.2_Intron	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	Error:Variant_position_missing_in_Q5VU43_after_alignment					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACCTGAGGGGGTTTCTCAAAT	0.458			T	PDGFRB	MPD							
C1orf56	54964	broad.mit.edu	37	1	151020433	151020433	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:151020433G>A	uc001ewn.2	+	1	175	c.110G>A	c.(109-111)AGT>AAT	p.S37N		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	37						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGCGGGTCAGTTTACGCTTT	0.667												
C1orf56	54964	broad.mit.edu	37	1	151021230	151021230	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:151021230G>A	uc001ewn.2	+	1	972	c.907G>A	c.(907-909)GCC>ACC	p.A303T		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	303						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTGCCACCCGCCAGCCCCTG	0.577											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TCHH	7062	broad.mit.edu	37	1	152081442	152081442	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152081442G>A	uc001ezp.2	-	2	4251	c.4251C>T	c.(4249-4251)CGC>CGT	p.R1417R	TCHH_uc009wne.1_Silent_p.R1417R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1417	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCCTCGCGGAATTTTC	0.587												
HRNR	388697	broad.mit.edu	37	1	152188317	152188317	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152188317A>C	uc001ezt.1	-	3	5864	c.5788T>G	c.(5788-5790)TCC>GCC	p.S1930A		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	1930	21.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGACGGGAGCCAGACCCA	0.577												
FLG	2312	broad.mit.edu	37	1	152282336	152282336	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152282336T>C	uc001ezu.1	-	3	5062	c.5026A>G	c.(5026-5028)AGT>GGT	p.S1676G		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1676	Ser-rich.|Filaggrin 10.				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)			TCTCCTGGACTTGACCTTGCC	0.562									Ichthyosis			
FLG2	388698	broad.mit.edu	37	1	152326950	152326950	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:152326950T>C	uc001ezw.3	-	3	3385	c.3312A>G	c.(3310-3312)CAA>CAG	p.Q1104Q	uc001ezv.2_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	filaggrin family member 2	1104	Ser-rich.|Filaggrin 4.						calcium ion binding|structural molecule activity			ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCTGTGTTGTCCAAATC	0.507												
NPR1	4881	broad.mit.edu	37	1	153660672	153660672	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:153660672C>T	uc001fcs.3	+	15	2813	c.2392C>T	c.(2392-2394)CGC>TGC	p.R798C	NPR1_uc010pdz.1_Missense_Mutation_p.R544C|NPR1_uc010pea.1_Missense_Mutation_p.R276C	NM_000906	NP_000897	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1 precursor	798	Cytoplasmic (Potential).|Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			ovary(3)|lung(2)|stomach(1)|breast(1)	7	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCAGCAGATCCGCCTGACGTT	0.607												
KIAA0907	22889	broad.mit.edu	37	1	155896918	155896918	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:155896918C>T	uc001fmi.1	-	5	518	c.494G>A	c.(493-495)GGC>GAC	p.G165D	KIAA0907_uc001fmj.1_Missense_Mutation_p.G165D|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.G165D|KIAA0907_uc001fmm.2_Missense_Mutation_p.G165D|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.G165D	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	hypothetical protein LOC22889	165											0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCGTGTCTGGCCCTGAACATG	0.413												
RXFP4	339403	broad.mit.edu	37	1	155911718	155911718	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:155911718G>A	uc010pgs.1	+	1	239	c.218G>A	c.(217-219)GGC>GAC	p.G73D		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	relaxin 3 receptor 2	73	Cytoplasmic (Potential).					integral to membrane|plasma membrane	angiotensin type II receptor activity				0	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGAGCCCCTGGCCCACCTTCA	0.612												
SEMA4A	64218	broad.mit.edu	37	1	156146693	156146693	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:156146693A>G	uc001fnl.2	+	15	2295	c.2191A>G	c.(2191-2193)AGC>GGC	p.S731G	SEMA4A_uc009wrq.2_Missense_Mutation_p.S731G|SEMA4A_uc001fnm.2_Missense_Mutation_p.S731G|SEMA4A_uc001fnn.2_Missense_Mutation_p.S599G|SEMA4A_uc001fno.2_Missense_Mutation_p.S731G	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	731	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					GGCCCCGTTAAGCAGAGAGCA	0.597												
CCT3	7203	broad.mit.edu	37	1	156288680	156288680	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:156288680T>C	uc001fol.1	-	8	958	c.738A>G	c.(736-738)GAA>GAG	p.E246E	CCT3_uc001fom.1_Silent_p.E245E|CCT3_uc001fon.1_Silent_p.E208E|CCT3_uc010phj.1_Silent_p.E200E|CCT3_uc010phk.1_Silent_p.E200E|CCT3_uc010phl.1_Silent_p.E200E	NM_005998	NP_005989	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 isoform a	246					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)					CTTTCTTGTATTCCAGAGAAG	0.433												
FCRL1	115350	broad.mit.edu	37	1	157772362	157772362	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:157772362T>C	uc001frg.2	-	4	525	c.412A>G	c.(412-414)ATG>GTG	p.M138V	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.M138V|FCRL1_uc001fri.2_Missense_Mutation_p.M138V|FCRL1_uc001frj.2_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	138	Ig-like C2-type 2.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGTGCCCATAGCAACTGAG	0.547												
KIRREL	55243	broad.mit.edu	37	1	158061167	158061167	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158061167A>C	uc001frn.3	+	11	1696	c.1292A>C	c.(1291-1293)AAC>ACC	p.N431T	KIRREL_uc010pib.1_Missense_Mutation_p.N331T|KIRREL_uc009wsq.2_Missense_Mutation_p.N267T|KIRREL_uc001fro.3_Missense_Mutation_p.N245T	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	431	Ig-like C2-type 5.|Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)					TGGAAGGAGAACTTCTTGGAG	0.592												
CD1B	910	broad.mit.edu	37	1	158300854	158300854	+	Splice_Site	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158300854T>C	uc001frx.2	-	2	170	c.62_splice	c.e2-1	p.A21_splice	CD1B_uc001frw.2_Splice_Site|CD1B_uc010pic.1_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor						antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					CCTGGAAGGCTGTGAAGAGTG	0.448												
OR10K1	391109	broad.mit.edu	37	1	158435578	158435578	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158435578T>G	uc010pij.1	+	1	227	c.227T>G	c.(226-228)GTC>GGC	p.V76G		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K,	76	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TATACCTTTGTCATTGTACCC	0.468												
OR10Z1	128368	broad.mit.edu	37	1	158576839	158576839	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158576839T>A	uc010pio.1	+	1	611	c.611T>A	c.(610-612)CTT>CAT	p.L204H		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z,	204	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2	all_hematologic(112;0.0378)					ATCCTCAGTCTTTTGGTCCTC	0.522												
SPTA1	6708	broad.mit.edu	37	1	158626424	158626424	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:158626424G>A	uc001fst.1	-	20	3027	c.2828C>T	c.(2827-2829)GCC>GTC	p.A943V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	943	Spectrin 10.				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)					TAATAGAAAGGCCTCATGCTT	0.383												
ARHGAP30	257106	broad.mit.edu	37	1	161026197	161026197	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161026197C>T	uc001fxl.2	-	3	672	c.326G>A	c.(325-327)CGG>CAG	p.R109Q	ARHGAP30_uc001fxk.2_Missense_Mutation_p.R109Q|ARHGAP30_uc001fxm.2_Intron|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	109	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GTCATAGAGCCGGTAAGTGAG	0.557												
PVRL4	81607	broad.mit.edu	37	1	161044096	161044096	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161044096G>A	uc001fxo.2	-	6	1367	c.1068C>T	c.(1066-1068)ATC>ATT	p.I356I	PVRL4_uc010pjy.1_Silent_p.I35I|PVRL4_uc010pjz.1_Silent_p.I90I	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	356	Helical; (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGAGTGCGGCGATCACACCCA	0.597												
PVRL4	81607	broad.mit.edu	37	1	161049588	161049588	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161049588C>A	uc001fxo.2	-	2	530	c.231G>T	c.(229-231)CAG>CAT	p.Q77H		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	77	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGCTAGTTCCTGGGCGCCTT	0.682												
USP21	27005	broad.mit.edu	37	1	161130992	161130992	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161130992G>A	uc010pke.1	+	3	939	c.562G>A	c.(562-564)GCC>ACC	p.A188T	USP21_uc010pkc.1_Missense_Mutation_p.A188T|USP21_uc010pkd.1_Missense_Mutation_p.A188T|USP21_uc010pkf.1_Missense_Mutation_p.A188T	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	188					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)			CATGATATCCGCCCGGTCCTC	0.577												
B4GALT3	8703	broad.mit.edu	37	1	161141819	161141819	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:161141819T>C	uc001fyq.1	-	8	1231	c.969A>G	c.(967-969)ACA>ACG	p.T323T	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_Silent_p.T103T|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Silent_p.T323T|B4GALT3_uc001fys.1_Silent_p.T323T	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	323	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	GCAACTGGTATGTCAGTGAGT	0.547												
RGS4	5999	broad.mit.edu	37	1	163043361	163043361	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:163043361C>A	uc009wuy.2	+	4	838	c.327C>A	c.(325-327)CCC>CCA	p.P109P	RGS4_uc001gcl.3_Silent_p.P206P|RGS4_uc009wuz.2_Intron|RGS4_uc009wva.2_Silent_p.P91P	NM_005613	NP_005604	P49798	RGS4_HUMAN	regulator of G-protein signaling 4 isoform 2	109	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			ovary(2)|central_nervous_system(1)	3						AACTAAGTCCCAAGGCCAAAA	0.299												
POGK	57645	broad.mit.edu	37	1	166818499	166818499	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:166818499A>G	uc001gdt.1	+	5	803	c.683A>G	c.(682-684)GAA>GGA	p.E228G	POGK_uc010ple.1_Missense_Mutation_p.E143G|POGK_uc010plf.1_Missense_Mutation_p.E110G	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	228					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1						GGAGTATTGGAAAAAAACGTT	0.552												
F5	2153	broad.mit.edu	37	1	169500040	169500040	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:169500040T>C	uc001ggg.1	-	15	5337	c.5192A>G	c.(5191-5193)TAC>TGC	p.Y1731C		NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	1731	F5/8 type A 3.|Plastocyanin-like 5.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CACAGCTGAGTAGTAGGCCCA	0.483												
SELL	6402	broad.mit.edu	37	1	169676575	169676575	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:169676575C>T	uc001ggk.2	-	4	686	c.488G>A	c.(487-489)TGG>TAG	p.W163*	C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Nonsense_Mutation_p.W116*|SELL_uc001ggl.1_Nonsense_Mutation_p.W176*	NM_000655	NP_000646	P14151	LYAM1_HUMAN	selectin L precursor	163	EGF-like.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding				0	all_hematologic(923;0.208)					ACTGCATGACCAGGGCTGGCA	0.388												
SLC9A11	284525	broad.mit.edu	37	1	173506088	173506088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:173506088G>A	uc001giz.2	-	14	2071	c.1648C>T	c.(1648-1650)CAA>TAA	p.Q550*	SLC9A11_uc009wwe.2_Nonsense_Mutation_p.Q108*|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	550					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2						TACTTTCCTTGGATGGAGTAA	0.318												
TNR	7143	broad.mit.edu	37	1	175325484	175325484	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:175325484C>G	uc001gkp.1	-	14	3170	c.3089G>C	c.(3088-3090)AGT>ACT	p.S1030T	TNR_uc009wwu.1_Missense_Mutation_p.S1030T	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	1030	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)					GATGGTGCCACTGGTGAGAGG	0.498												
ASTN1	460	broad.mit.edu	37	1	176998870	176998870	+	Silent	SNP	G	G	A	rs138051324		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:176998870G>A	uc001glc.2	-	5	1232	c.1020C>T	c.(1018-1020)TCC>TCT	p.S340S	ASTN1_uc001glb.1_Silent_p.S340S|ASTN1_uc001gld.1_Silent_p.S340S|ASTN1_uc009wwx.1_Silent_p.S340S|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	340					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						TCAAGAAGGCGGAACCAGCTG	0.483												
SEC16B	89866	broad.mit.edu	37	1	177937025	177937025	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:177937025C>T	uc001gli.1	-	2	182	c.92G>A	c.(91-93)GGA>GAA	p.G31E	SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Missense_Mutation_p.G31E|SEC16B_uc001gll.3_Missense_Mutation_p.G31E	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	31					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4						CCGATGATGTCCATCTCTCCG	0.602												
RASAL2	9462	broad.mit.edu	37	1	178389670	178389670	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:178389670G>T	uc001glr.2	+	3	270	c.145G>T	c.(145-147)GGC>TGC	p.G49C	RASAL2_uc009wxb.2_Missense_Mutation_p.G197C|RASAL2_uc001glq.2_Missense_Mutation_p.G197C	NM_004841	NP_004832	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2 isoform 1	49	PH.				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						GCGCCTGAAAGGCTCCATCAA	0.478												
NPL	80896	broad.mit.edu	37	1	182783988	182783988	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:182783988C>T	uc009wyb.2	+	7	499	c.359C>T	c.(358-360)ACC>ATC	p.T120I	NPL_uc010pnx.1_Missense_Mutation_p.T101I|NPL_uc010pny.1_RNA|NPL_uc001gpo.1_Missense_Mutation_p.T101I|NPL_uc009wyc.2_Missense_Mutation_p.T120I|NPL_uc001gpp.3_Missense_Mutation_p.T120I|NPL_uc001gpq.1_Missense_Mutation_p.T120I	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase	120					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			ovary(1)|central_nervous_system(1)|skin(1)	3						AAGCCATGGACCAAAGGTAAG	0.423												
LAMC2	3918	broad.mit.edu	37	1	183177156	183177156	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:183177156C>T	uc001gqa.2	+	2	534	c.220C>T	c.(220-222)CGG>TGG	p.R74W	LAMC2_uc001gpz.3_Missense_Mutation_p.R74W|LAMC2_uc010poa.1_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	laminin, gamma 2 isoform a precursor	74	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			skin(2)|ovary(1)	3						TGGCTTTTACCGGCACAGAGA	0.507												
TPR	7175	broad.mit.edu	37	1	186305776	186305776	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:186305776C>T	uc001grv.2	-	33	4854	c.4557G>A	c.(4555-4557)GTG>GTA	p.V1519V		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	1519	Potential.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		ACTGAAGTTGCACAGTCTGTT	0.378			T	NTRK1	papillary thyroid							
KCNT2	343450	broad.mit.edu	37	1	196395022	196395022	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:196395022G>A	uc001gtd.1	-	11	1141	c.1081C>T	c.(1081-1083)CAA>TAA	p.Q361*	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Nonsense_Mutation_p.Q361*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.Q361*|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Nonsense_Mutation_p.Q361*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.Q336*	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	361	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7						GCTGAACCTTGAAGGTAGATA	0.403												
CFH	3075	broad.mit.edu	37	1	196716354	196716354	+	Missense_Mutation	SNP	C	C	T	rs145347741	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:196716354C>T	uc001gtj.3	+	22	3847	c.3607C>T	c.(3607-3609)CGG>TGG	p.R1203W		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1203	Sushi 20.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						TGTGTGTAAACGGGGATATCG	0.383												
CFHR4	10877	broad.mit.edu	37	1	196883716	196883716	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:196883716C>T	uc001gto.2	+	4	600	c.531C>T	c.(529-531)TAC>TAT	p.Y177Y	CFHR4_uc009wyy.2_Silent_p.Y423Y|CFHR4_uc001gtp.2_Silent_p.Y424Y	NM_006684	NP_006675	Q92496	FHR4_HUMAN	complement factor H-related 4 precursor	177	Sushi 3.					extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3						ACGAATGCTACGATGGATATG	0.398												
ZBTB41	360023	broad.mit.edu	37	1	197145714	197145714	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197145714T>C	uc001gtx.1	-	7	1928	c.1859A>G	c.(1858-1860)AAG>AGG	p.K620R	ZBTB41_uc009wyz.1_RNA	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	620	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2						TTTTTTGTGCTTTGTAAGGTG	0.294												
DENND1B	163486	broad.mit.edu	37	1	197586803	197586803	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197586803C>T	uc001guf.3	-	11	1097	c.759G>A	c.(757-759)CTG>CTA	p.L253L	DENND1B_uc010ppe.1_Silent_p.L233L|DENND1B_uc010ppf.1_RNA|DENND1B_uc001gue.3_Silent_p.L223L|DENND1B_uc001gug.3_Silent_p.L52L	NM_144977	NP_659414	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B isoform 2	253	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity				0						AGTAGTCCAGCAGGTGTGGAG	0.418												
LHX9	56956	broad.mit.edu	37	1	197890758	197890758	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197890758G>A	uc001guk.1	+	3	1139	c.702G>A	c.(700-702)GCG>GCA	p.A234A	LHX9_uc001gui.1_Silent_p.A225A|LHX9_uc001guj.1_Silent_p.A240A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	234					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGAGCCCAGCGCTGGGAGTGG	0.652												
NAV1	89796	broad.mit.edu	37	1	201687704	201687704	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:201687704C>T	uc001gwu.2	+	3	1394	c.1047C>T	c.(1045-1047)GGC>GGT	p.G349G		NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	349					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						ACATGCACGGCGAACGGGCCC	0.687												
PIK3C2B	5287	broad.mit.edu	37	1	204408163	204408163	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:204408163C>T	uc001haw.2	-	24	3895	c.3416G>A	c.(3415-3417)CGT>CAT	p.R1139H	PIK3C2B_uc010pqv.1_Missense_Mutation_p.R1111H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	phosphoinositide-3-kinase, class 2 beta	1139	PI3K/PI4K.				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)			CTGGATCTTACGCAGGGTCTC	0.587												
DYRK3	8444	broad.mit.edu	37	1	206821125	206821125	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:206821125T>C	uc001hej.2	+	3	750	c.582T>C	c.(580-582)GAT>GAC	p.D194D	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Silent_p.D174D	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	194					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			ATGATGCAGATGGGGCCTATA	0.418												
KCNH1	3756	broad.mit.edu	37	1	210856804	210856804	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:210856804C>T	uc001hib.2	-	11	2959	c.2789G>A	c.(2788-2790)AGG>AAG	p.R930K	KCNH1_uc001hic.2_Missense_Mutation_p.R903K	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	930	Cytoplasmic (Potential).|CAD (involved in subunit assembly) (By similarity).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CAGCTCGTGCCTCACCTCCAG	0.532												
CNIH3	149111	broad.mit.edu	37	1	224804897	224804897	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:224804897G>A	uc001hos.1	+	1	719	c.21G>A	c.(19-21)GCG>GCA	p.A7A		NM_152495	NP_689708	Q8TBE1	CNIH3_HUMAN	cornichon homolog 3	7	Cytoplasmic (Potential).				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane					0	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTTTCGCTGCGTTCTGCTACA	0.597												
LBR	3930	broad.mit.edu	37	1	225591108	225591108	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:225591108T>C	uc001hoy.2	-	14	1888	c.1745A>G	c.(1744-1746)CAC>CGC	p.H582R	LBR_uc001hoz.2_Missense_Mutation_p.H582R	NM_002296	NP_002287	Q14739	LBR_HUMAN	lamin B receptor	582					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			ovary(1)|skin(1)	2	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AGCTTCTCGGTGGACAAGCAA	0.388												
ACBD3	64746	broad.mit.edu	37	1	226353563	226353563	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:226353563C>A	uc001hpy.2	-	2	472	c.425G>T	c.(424-426)AGG>ATG	p.R142M		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	142	ACB.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CTGTTACCTCCTGTCATTCCC	0.398												
TTC13	79573	broad.mit.edu	37	1	231060632	231060632	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:231060632A>G	uc001huf.3	-	14	1707	c.1676T>C	c.(1675-1677)TTG>TCG	p.L559S	TTC13_uc009xfi.2_Missense_Mutation_p.L506S|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.L506S|TTC13_uc009xfk.1_Missense_Mutation_p.L449S	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13 isoform a	559							binding			ovary(1)|skin(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCACTGCATCAACCGTGTCTT	0.428												
ERO1LB	56605	broad.mit.edu	37	1	236389790	236389790	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:236389790T>C	uc001hxt.2	-	12	1087	c.831A>G	c.(829-831)GGA>GGG	p.G277G		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	277					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TAATATTAGGTCCCCAACTGG	0.363												
HEATR1	55127	broad.mit.edu	37	1	236760194	236760194	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:236760194A>G	uc001hyd.1	-	6	811	c.686T>C	c.(685-687)GTA>GCA	p.V229A		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	protein BAP28	229					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)			CTCTGCAGCTACCAGCGCCGA	0.448												
RYR2	6262	broad.mit.edu	37	1	237777405	237777405	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:237777405G>A	uc001hyl.1	+	37	5097	c.4977G>A	c.(4975-4977)CGG>CGA	p.R1659R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1659	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)			ACACTCTCCGGCTCTACTCAG	0.502												
RGS7	6000	broad.mit.edu	37	1	240977013	240977013	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:240977013C>A	uc001hyv.2	-	13	1191	c.861G>T	c.(859-861)ACG>ACT	p.T287T	RGS7_uc010pyh.1_Silent_p.T261T|RGS7_uc010pyj.1_Silent_p.T203T|RGS7_uc001hyu.2_Silent_p.T287T|RGS7_uc009xgn.1_Silent_p.T234T|RGS7_uc001hyw.2_Silent_p.T287T|RGS7_uc001hyt.2_Silent_p.T119T	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATACTGTTCCGTGTAACTTA	0.433												
OR11L1	391189	broad.mit.edu	37	1	248004443	248004443	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:248004443G>A	uc001idn.1	-	1	756	c.756C>T	c.(754-756)TAC>TAT	p.Y252Y		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	252	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGGTCCCGTAGTAGAGAG	0.493												
UPF2	26019	broad.mit.edu	37	10	12006024	12006024	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:12006024C>T	uc001ila.2	-	10	2642	c.2168G>A	c.(2167-2169)AGG>AAG	p.R723K	UPF2_uc001ilb.2_Missense_Mutation_p.R723K|UPF2_uc001ilc.2_Missense_Mutation_p.R723K|UPF2_uc009xiz.1_Missense_Mutation_p.R723K	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	723	MIF4G 2.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TACACTGGTCCTCAGGTGAGA	0.458												
UPF2	26019	broad.mit.edu	37	10	12071324	12071324	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:12071324A>C	uc001ila.2	-	2	1039	c.565T>G	c.(565-567)TTG>GTG	p.L189V	UPF2_uc001ilb.2_Missense_Mutation_p.L189V|UPF2_uc001ilc.2_Missense_Mutation_p.L189V|UPF2_uc009xiz.1_Missense_Mutation_p.L189V	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	189	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				TCATGGGACAAGGAGTCTCTC	0.383												
CUBN	8029	broad.mit.edu	37	10	16942758	16942758	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:16942758A>G	uc001ioo.2	-	53	8328	c.8276T>C	c.(8275-8277)ATC>ACC	p.I2759T	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.I115T	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2759	CUB 20.				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)	TTGTCCTATGATGGGTGATTC	0.463												
SLC39A12	221074	broad.mit.edu	37	10	18276457	18276457	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:18276457G>A	uc001ipo.2	+	7	1419	c.1146G>A	c.(1144-1146)ATG>ATA	p.M382I	SLC39A12_uc001ipn.2_Missense_Mutation_p.M382I|SLC39A12_uc001ipp.2_Missense_Mutation_p.M382I|SLC39A12_uc010qck.1_Missense_Mutation_p.M248I	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	382	Helical; (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						TGGGCTCCATGCTGGGGACAG	0.557												
YME1L1	10730	broad.mit.edu	37	10	27403477	27403477	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:27403477G>A	uc001iti.2	-	19	2333	c.2151C>T	c.(2149-2151)ATC>ATT	p.I717I	YME1L1_uc001itj.2_Silent_p.I660I|YME1L1_uc010qdl.1_Silent_p.I627I|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	717					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						TTTCTTGTTCGATGGCAGATT	0.333												
MPP7	143098	broad.mit.edu	37	10	28420597	28420597	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:28420597A>G	uc001iua.1	-	8	743	c.339T>C	c.(337-339)ACT>ACC	p.T113T	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.T113T|MPP7_uc009xla.2_Silent_p.T113T|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	113	L27 2.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						TCTGAGCCACAGTATCATGTA	0.299												
KIAA1462	57608	broad.mit.edu	37	10	30317027	30317027	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:30317027G>A	uc001iux.2	-	2	2109	c.2050C>T	c.(2050-2052)CAC>TAC	p.H684Y	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.H546Y|KIAA1462_uc009xle.1_Missense_Mutation_p.H684Y	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	684										ovary(4)	4						CTGTACCGGTGCCCTGGCCAA	0.532												
ZEB1	6935	broad.mit.edu	37	10	31791321	31791321	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:31791321A>G	uc001ivs.3	+	4	428	c.365A>G	c.(364-366)CAT>CGT	p.H122R	ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.H123R|ZEB1_uc001ivv.3_Missense_Mutation_p.H102R|ZEB1_uc010qeh.1_Missense_Mutation_p.H55R|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.H105R|ZEB1_uc009xlp.2_Missense_Mutation_p.H106R	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	122					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)				GAGCAAAACCATGATCCTAAT	0.403												
CCDC7	221016	broad.mit.edu	37	10	32740668	32740668	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:32740668C>A	uc001iwj.2	+	2	668	c.98C>A	c.(97-99)CCT>CAT	p.P33H	CCDC7_uc009xlu.1_RNA|CCDC7_uc001iwk.2_Missense_Mutation_p.P33H|CCDC7_uc009xlv.2_RNA|CCDC7_uc009xlw.1_RNA|CCDC7_uc009xlx.1_Missense_Mutation_p.P33H|CCDC7_uc009xly.1_RNA	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	33											0		Breast(68;0.000207)|Prostate(175;0.0107)				CCATTATCACCTGAGCTAAAG	0.343												
ITGB1	3688	broad.mit.edu	37	10	33209310	33209310	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:33209310G>T	uc001iws.3	-	10	1268	c.1132C>A	c.(1132-1134)CTT>ATT	p.L378I	ITGB1_uc001iwp.3_Missense_Mutation_p.L378I|ITGB1_uc001iwq.3_Missense_Mutation_p.L378I|ITGB1_uc001iwr.3_Missense_Mutation_p.L378I|ITGB1_uc001iwt.3_Missense_Mutation_p.L378I|ITGB1_uc001iwu.1_Missense_Mutation_p.L378I	NM_133376	NP_596867	P05556	ITB1_HUMAN	integrin beta 1 isoform 1A precursor	378	Extracellular (Potential).|VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTGAGGAAAGGGACTAAAAG	0.353												
NRP1	8829	broad.mit.edu	37	10	33469287	33469287	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:33469287G>A	uc001iwx.3	-	17	3012	c.2489C>T	c.(2488-2490)ACG>ATG	p.T830M	NRP1_uc001iwv.3_Missense_Mutation_p.T813M|NRP1_uc009xlz.2_Missense_Mutation_p.T824M|NRP1_uc001iww.3_Missense_Mutation_p.T642M|NRP1_uc001iwy.3_Missense_Mutation_p.T823M	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	830	Extracellular (Potential).				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)	GTATCCTGGCGTGCTCCCTAT	0.473												
BMS1	9790	broad.mit.edu	37	10	43297650	43297650	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:43297650G>T	uc001jaj.2	+	13	2671	c.2313G>T	c.(2311-2313)AAG>AAT	p.K771N		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	771					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						ATGCAGCCAAGGTCTTAGCAG	0.398												
CSGALNACT2	55454	broad.mit.edu	37	10	43656003	43656003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:43656003G>T	uc001jan.2	+	4	1275	c.940G>T	c.(940-942)GGA>TGA	p.G314*	CSGALNACT2_uc001jam.1_Nonsense_Mutation_p.G314*	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	314	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						TGGTAAAGAAGGACTGTCTAA	0.353												
ALOX5	240	broad.mit.edu	37	10	45877991	45877991	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:45877991G>A	uc001jce.2	+	2	310	c.211G>A	c.(211-213)GAG>AAG	p.E71K	ALOX5_uc009xmt.2_Missense_Mutation_p.E71K|ALOX5_uc010qfg.1_Missense_Mutation_p.E71K	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	71	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GGTCAGAATCGAGAAGCGCAA	0.567												
RBP3	5949	broad.mit.edu	37	10	48390672	48390672	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:48390672G>A	uc001jez.2	-	1	320	c.206C>T	c.(205-207)ACG>ATG	p.T69M		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	69	4 X approximate tandem repeats.|1.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			large_intestine(1)|central_nervous_system(1)	2					Vitamin A(DB00162)	ACTGGCCAGCGTCTGCGGGTC	0.607												
FAM13C	220965	broad.mit.edu	37	10	61043190	61043190	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:61043190C>T	uc001jkn.2	-	7	659	c.525G>A	c.(523-525)GTG>GTA	p.V175V	FAM13C_uc001jko.2_Silent_p.V175V|FAM13C_uc010qid.1_Silent_p.V92V|FAM13C_uc010qie.1_Silent_p.V92V|FAM13C_uc010qif.1_Silent_p.V197V|FAM13C_uc001jkp.2_Silent_p.V92V	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	175										ovary(2)	2						TGACTCCATGCACCTGAGCAG	0.527												
HNRNPH3	3189	broad.mit.edu	37	10	70097668	70097668	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:70097668A>C	uc001jnw.3	+	3	395	c.166A>C	c.(166-168)AGC>CGC	p.S56R	HNRNPH3_uc001jnx.3_Missense_Mutation_p.S56R|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Intron|HNRNPH3_uc001jny.3_Missense_Mutation_p.S7R	NM_012207	NP_036339	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3	56	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2						CCAGGGGAGAAGCACAGGGGA	0.488												
C10orf27	219793	broad.mit.edu	37	10	72539499	72539499	+	Splice_Site	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:72539499C>T	uc001jrj.1	-	5	668	c.278_splice	c.e5-1	p.D93_splice	C10orf27_uc010qjm.1_Splice_Site_p.D93_splice|C10orf27_uc009xqh.1_Splice_Site|C10orf27_uc010qjn.1_Splice_Site_p.D93_splice|C10orf27_uc009xqi.1_Intron|C10orf27_uc010qjo.1_Splice_Site_p.D82_splice|C10orf27_uc009xqj.1_Silent_p.Q87Q|C10orf27_uc010qjp.1_Splice_Site_p.D82_splice	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph						cell differentiation|multicellular organismal development|spermatogenesis	cytosol				skin(1)	1						CCGGTGAGATCTGCAAAGGGT	0.577												
SLC29A3	55315	broad.mit.edu	37	10	73121832	73121832	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:73121832C>T	uc001jrr.3	+	6	952	c.895C>T	c.(895-897)CGC>TGC	p.R299C	SLC29A3_uc001jrs.3_3'UTR|SLC29A3_uc010qjq.1_Missense_Mutation_p.R153C|SLC29A3_uc001jrt.3_Missense_Mutation_p.R93C|SLC29A3_uc001jru.3_Missense_Mutation_p.R111C	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (nucleoside	299	Cytoplasmic (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity				0						ACCCCCTCTCCGCCCCATCCT	0.587												
FUT11	170384	broad.mit.edu	37	10	75533570	75533570	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:75533570A>G	uc001jva.2	+	2	1374	c.1331A>G	c.(1330-1332)GAC>GGC	p.D444G	FUT11_uc001juy.1_3'UTR|FUT11_uc001juz.1_Missense_Mutation_p.D444G	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3)	444	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity				0	Prostate(51;0.0112)					CCTGAGAATGACAGGTAAGAG	0.537												
PPIF	10105	broad.mit.edu	37	10	81113488	81113488	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:81113488G>A	uc001kai.2	+	6	599	c.514G>A	c.(514-516)GGT>AGT	p.G172S	PPIF_uc001kaj.2_Silent_p.S146S	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	172	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			skin(1)	1	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	TGTTGTGTTCGGTCACGTCAA	0.512												
PPIF	10105	broad.mit.edu	37	10	81113585	81113585	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:81113585G>A	uc001kai.2	+	6	696	c.611G>A	c.(610-612)GGC>GAC	p.G204D	PPIF_uc001kaj.2_3'UTR	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	204	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			skin(1)	1	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	ACAGACTGTGGCCAGTTGAGC	0.542												
SFTPA2	729238	broad.mit.edu	37	10	81317088	81317088	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:81317088G>A	uc001kal.3	-	6	721	c.624C>T	c.(622-624)TAC>TAT	p.Y208Y	SFTPA2_uc001kan.3_Silent_p.Y208Y	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	208	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			ACCAGTTGGTGTAGTTTACAG	0.547									Pulmonary_Fibrosis_Idiopathic			
KIF20B	9585	broad.mit.edu	37	10	91483733	91483733	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:91483733T>C	uc001kgs.1	+	14	1807	c.1735T>C	c.(1735-1737)TTA>CTA	p.L579L	KIF20B_uc001kgr.1_Silent_p.L579L|KIF20B_uc001kgt.1_5'UTR	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	M-phase phosphoprotein 1	579	Potential.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3						ACTGTTGGACTTAATAGAAGA	0.254												
EXOC6	54536	broad.mit.edu	37	10	94712135	94712135	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:94712135C>T	uc001kig.2	+	15	1588	c.1522C>T	c.(1522-1524)CGG>TGG	p.R508W	EXOC6_uc010qnr.1_Missense_Mutation_p.R524W|EXOC6_uc001kie.2_Missense_Mutation_p.R503W|EXOC6_uc009xub.2_Missense_Mutation_p.R507W|EXOC6_uc009xuc.2_Missense_Mutation_p.R405W|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Missense_Mutation_p.R82W	NM_019053	NP_061926	Q8TAG9	EXOC6_HUMAN	SEC15-like 1 isoform a	508					protein transport|vesicle docking involved in exocytosis	exocyst				skin(1)	1		Colorectal(252;0.123)				GTCACTACACCGGAGGTGAGT	0.284												
MYOF	26509	broad.mit.edu	37	10	95083098	95083098	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:95083098C>A	uc001kin.2	-	47	5412	c.5289G>T	c.(5287-5289)TGG>TGT	p.W1763C	MYOF_uc001kio.2_Missense_Mutation_p.W1750C|MYOF_uc009xue.2_Intron	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	1763	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						AAACATCCACCCACATCTGAA	0.433												
ENTPD1	953	broad.mit.edu	37	10	97624518	97624518	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:97624518T>C	uc001klh.3	+	9	1550	c.1226T>C	c.(1225-1227)CTG>CCG	p.L409P	ENTPD1_uc001kli.3_Missense_Mutation_p.L416P|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.L421P|ENTPD1_uc010qok.1_Missense_Mutation_p.L301P|ENTPD1_uc010qol.1_Missense_Mutation_p.L301P|ENTPD1_uc010qom.1_Missense_Mutation_p.L368P|ENTPD1_uc010qon.1_Missense_Mutation_p.L271P|ENTPD1_uc009xva.2_Missense_Mutation_p.L271P|ENTPD1_uc009xuz.2_RNA	NM_001776	NP_001767	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	409	Extracellular (Potential).				cell adhesion	integral to plasma membrane	ATP binding			ovary(3)	3		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GAGAAGTACCTGAGTGAATAC	0.453												
RRP12	23223	broad.mit.edu	37	10	99139083	99139083	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:99139083A>C	uc001knf.2	-	15	1904	c.1765T>G	c.(1765-1767)TTC>GTC	p.F589V	RRP12_uc009xvm.2_Missense_Mutation_p.F307V|RRP12_uc010qou.1_Missense_Mutation_p.F528V|RRP12_uc009xvn.2_Missense_Mutation_p.F489V	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog isoform 1	589						integral to membrane|nuclear membrane|nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		AGGGGCAAGAAGTAGGTGGTG	0.537												
AVPI1	60370	broad.mit.edu	37	10	99439420	99439420	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:99439420C>T	uc001koh.1	-	2	354	c.243G>A	c.(241-243)AGG>AGA	p.R81R	AVPI1_uc001koi.2_Silent_p.R81R	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN	vasopressin-induced protein, 32kDa	81				R -> K (in Ref. 3; BAD96819).	cell cycle					breast(1)	1		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GGGGTTTCTGCCTTGGGGGCC	0.577												
LOXL4	84171	broad.mit.edu	37	10	100017916	100017916	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:100017916C>T	uc001kpa.1	-	7	1078	c.927G>A	c.(925-927)CCG>CCA	p.P309P		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4 precursor	309						extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			ovary(3)|breast(1)|skin(1)	5		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GGCGCACCCTCGGCTCCTGCT	0.687												
PYROXD2	84795	broad.mit.edu	37	10	100147059	100147059	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:100147059C>T	uc001kpc.2	-	14	1539	c.1453G>A	c.(1453-1455)GAT>AAT	p.D485N	PYROXD2_uc001kpb.2_RNA|PYROXD2_uc001kpd.2_RNA	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase	485							oxidoreductase activity			central_nervous_system(1)	1						TCGATGCAATCAAACACTGGG	0.408												
MGEA5	10724	broad.mit.edu	37	10	103558747	103558747	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:103558747G>A	uc001ktv.2	-	9	2104	c.1661C>T	c.(1660-1662)ACC>ATC	p.T554I	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.T501I|MGEA5_uc009xws.2_Missense_Mutation_p.T501I|MGEA5_uc001ktw.2_Missense_Mutation_p.T554I|MGEA5_uc009xwt.2_Missense_Mutation_p.T317I	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	554					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		ATCCTCCAGGGTCACTGGTTC	0.468												
NOLC1	9221	broad.mit.edu	37	10	103921390	103921390	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:103921390A>G	uc001kuo.2	+	11	2054	c.1819A>G	c.(1819-1821)ACC>GCC	p.T607A	NOLC1_uc001kup.2_Missense_Mutation_p.T617A|NOLC1_uc001kuq.2_Missense_Mutation_p.T608A|NOLC1_uc009xxb.1_Missense_Mutation_p.T326A|NOLC1_uc001kur.2_Missense_Mutation_p.T326A	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	607	Nuclear localization signal (Potential).				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AAAGCTTCAGACCCCTAACAC	0.428												
GBF1	8729	broad.mit.edu	37	10	104120057	104120057	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:104120057C>T	uc001kux.1	+	12	1534	c.1294C>T	c.(1294-1296)CAT>TAT	p.H432Y	GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.H432Y|GBF1_uc001kuz.1_Missense_Mutation_p.H433Y	NM_004193	NP_004184	Q92538	GBF1_HUMAN	golgi-specific brefeldin A resistant guanine	432					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATGGGACTGCATTTGCTGAC	0.547												
NFKB2	4791	broad.mit.edu	37	10	104156720	104156720	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:104156720A>G	uc001kvb.2	+	6	568	c.303A>G	c.(301-303)CCA>CCG	p.P101P	NFKB2_uc001kva.2_Silent_p.P101P|NFKB2_uc010qqk.1_Silent_p.P101P|NFKB2_uc001kvd.2_Silent_p.P101P|NFKB2_uc009xxc.2_Silent_p.P101P	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene	101	RHD.				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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(3)	3		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACAGTGACCCACCTCGTGCTC	0.602			T	IGH@	B-NHL							
TMEM180	79847	broad.mit.edu	37	10	104230500	104230500	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:104230500G>A	uc001kvt.2	+	5	549	c.330G>A	c.(328-330)GCG>GCA	p.A110A	TMEM180_uc001kvs.2_Intron|TMEM180_uc010qql.1_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.2_Silent_p.A110A	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	transmembrane protein 180	110	Helical; (Potential).					integral to membrane				ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CGCTGCTGGCGCTGTCGTTCC	0.682												
OBFC1	79991	broad.mit.edu	37	10	105659861	105659861	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:105659861C>T	uc001kxl.2	-	4	491	c.416G>A	c.(415-417)CGC>CAC	p.R139H	OBFC1_uc001kxm.2_Missense_Mutation_p.R139H|OBFC1_uc001kxn.2_RNA	NM_024928	NP_079204	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold	139	OB.				positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			ovary(1)	1		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCTGTATGTGCGGATACTGCC	0.453												
ZDHHC6	64429	broad.mit.edu	37	10	114194118	114194118	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:114194118C>A	uc001kzv.2	-	7	1264	c.840G>T	c.(838-840)GGG>GGT	p.G280G	ZDHHC6_uc001kzw.2_Silent_p.G276G|ZDHHC6_uc009xya.1_Silent_p.G280G	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	280						integral to membrane	acyltransferase activity|zinc ion binding				0		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CTTCAGGGACCCCTGACCACG	0.403												
HABP2	3026	broad.mit.edu	37	10	115338385	115338385	+	Splice_Site	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:115338385G>T	uc001lai.3	+	7	672	c.569_splice	c.e7-1	p.G190_splice	HABP2_uc010qrz.1_Splice_Site|HABP2_uc010qry.1_Splice_Site	NM_004132	NP_004123	Q14520	HABP2_HUMAN	hyaluronan binding protein 2 preproprotein						cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CTCTCTCGGAGGTTCTGATGA	0.517												
NRAP	4892	broad.mit.edu	37	10	115402723	115402723	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:115402723G>A	uc001laj.2	-	12	1349	c.1185C>T	c.(1183-1185)AAC>AAT	p.N395N	NRAP_uc001lak.2_Intron|NRAP_uc001lal.3_Silent_p.N395N	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	395	Nebulin 9.			N -> D (in Ref. 3; CAD38623).		fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCTTGCTCACGTTCCTGAATT	0.423												
FGFR2	2263	broad.mit.edu	37	10	123276912	123276912	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:123276912C>A	uc010qtk.1	-	8	1652	c.1005G>T	c.(1003-1005)GAG>GAT	p.E335D	FGFR2_uc010qtg.1_Intron|FGFR2_uc010qth.1_Missense_Mutation_p.E220D|FGFR2_uc010qti.1_Missense_Mutation_p.E246D|FGFR2_uc010qtj.1_Intron|FGFR2_uc010qtl.1_Intron|FGFR2_uc010qtm.1_Missense_Mutation_p.E220D|FGFR2_uc001lfl.3_Intron|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_RNA|FGFR2_uc010qtn.1_Missense_Mutation_p.E354D|FGFR2_uc010qto.1_Missense_Mutation_p.E239D|FGFR2_uc001lfo.1_3'UTR|FGFR2_uc001lfg.3_Translation_Start_Site	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	335	Ig-like C2-type 3.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCCCAGCGTCCTCAAAAGTTA	0.448		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
DMBT1	1755	broad.mit.edu	37	10	124345846	124345846	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:124345846G>A	uc001lgk.1	+	16	1836	c.1730G>A	c.(1729-1731)GGC>GAC	p.G577D	DMBT1_uc001lgl.1_Missense_Mutation_p.G567D|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G577D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	577	SRCR 4.				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)				CCCCACAATGGCTGGCTCTCC	0.557												
DMBT1	1755	broad.mit.edu	37	10	124348500	124348500	+	Silent	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:124348500T>A	uc001lgk.1	+	17	1930	c.1824T>A	c.(1822-1824)GGT>GGA	p.G608G	DMBT1_uc001lgl.1_Silent_p.G598G|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.G608G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	608	SRCR 5.				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)				TGAATGGAGGTGACAGGTGTC	0.547												
GPR26	2849	broad.mit.edu	37	10	125447476	125447476	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:125447476G>A	uc001lhh.2	+	3	867	c.814G>A	c.(814-816)GGC>AGC	p.G272S		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	272	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GGTGCCCATCGGCTCCCACTG	0.597												
C10orf90	118611	broad.mit.edu	37	10	128193584	128193584	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:128193584T>G	uc001ljq.2	-	3	306	c.185A>C	c.(184-186)AAG>ACG	p.K62T	C10orf90_uc001ljp.2_Missense_Mutation_p.K15T|C10orf90_uc010qum.1_Missense_Mutation_p.K159T|C10orf90_uc009yao.2_Missense_Mutation_p.K159T|C10orf90_uc001ljs.1_Missense_Mutation_p.K15T	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN	hypothetical protein LOC118611	62										ovary(1)|skin(1)	2		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCTCTTGACTTATTCTCATC	0.468												
DPYSL4	10570	broad.mit.edu	37	10	134006199	134006199	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:134006199A>G	uc009ybb.2	+	3	320	c.166A>G	c.(166-168)AAG>GAG	p.K56E		NM_006426	NP_006417	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	56					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			central_nervous_system(2)	2		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TGGGGGCATCAAGACCATTGA	0.582												
KNDC1	85442	broad.mit.edu	37	10	135013091	135013091	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:135013091C>T	uc001llz.1	+	15	2889	c.2888C>T	c.(2887-2889)GCG>GTG	p.A963V	KNDC1_uc001lma.1_Missense_Mutation_p.A898V|KNDC1_uc001lmb.1_Missense_Mutation_p.A375V	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND)	963					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AACGGGCAGGCGTCACCCTCC	0.617												
OR52A4	390053	broad.mit.edu	37	11	5142251	5142251	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5142251G>A	uc001lzz.1	-	1	558	c.558C>T	c.(556-558)CGC>CGT	p.R186R		NM_001005222	NP_001005222			olfactory receptor, family 52, subfamily A,											ovary(2)	2		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAAGGGCCACGCGTTCACAGT	0.418												
OR51B5	282763	broad.mit.edu	37	11	5364322	5364322	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5364322C>A	uc001map.1	-	1	433	c.433G>T	c.(433-435)GGA>TGA	p.G145*	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Nonsense_Mutation_p.G145*	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B,	145	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCAGAACTCCCAGCCCAATC	0.448												
TRIM5	85363	broad.mit.edu	37	11	5701080	5701080	+	Missense_Mutation	SNP	C	C	T	rs146215995		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5701080C>T	uc001mbm.1	-	2	585	c.328G>A	c.(328-330)GGG>AGG	p.G110R	TRIM5_uc001mbq.1_Missense_Mutation_p.G110R|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Missense_Mutation_p.G110R|TRIM5_uc001mbo.2_Missense_Mutation_p.G110R|TRIM5_uc001mbp.2_Missense_Mutation_p.G110R	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	tripartite motif protein TRIM5 isoform alpha	110	B box-type.		G -> E.		interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		ATGACCTTCCCGTCCTCCTGA	0.547												
KCNJ11	3767	broad.mit.edu	37	11	17408965	17408965	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:17408965C>T	uc001mna.2	-	1	1242	c.674G>A	c.(673-675)AGC>AAC	p.S225N	KCNJ11_uc001mnb.3_Missense_Mutation_p.S138N	NM_000525	NP_000516	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel J11	225						integral to membrane	ATP-activated inward rectifier potassium channel activity			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GCCCTCGGGGCTGGTGGTCTT	0.637											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNA4	3739	broad.mit.edu	37	11	30033740	30033740	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:30033740G>A	uc001msk.2	-	2	1638	c.486C>T	c.(484-486)GGC>GGT	p.G162G		NM_002233	NP_002224	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related	162	Poly-Gly.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGCCGCCACCGCCCTCATCCT	0.438												
CCDC73	493860	broad.mit.edu	37	11	32624508	32624508	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:32624508G>A	uc001mtv.2	-	18	3133	c.3089C>T	c.(3088-3090)ACG>ATG	p.T1030M		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	sarcoma antigen NY-SAR-79	1030										ovary(1)|central_nervous_system(1)	2	Breast(20;0.112)					ATTTTTAGTCGTCTTGATTGC	0.348												
TCP11L1	55346	broad.mit.edu	37	11	33079684	33079684	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:33079684A>G	uc001mud.2	+	5	1037	c.637A>G	c.(637-639)AGA>GGA	p.R213G	TCP11L1_uc009yju.2_Missense_Mutation_p.R28G|TCP11L1_uc010rei.1_Missense_Mutation_p.R213G|TCP11L1_uc001mue.2_Missense_Mutation_p.R213G|TCP11L1_uc001muf.1_5'Flank	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	213											0						GCCCCTTTTCAGGTATGGAAA	0.313												
LMO2	4005	broad.mit.edu	37	11	33881074	33881074	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:33881074C>T	uc001mve.2	-	3	744	c.305G>A	c.(304-306)CGT>CAT	p.R102H	LMO2_uc001mvc.2_Missense_Mutation_p.R95H|LMO2_uc001mvd.2_Missense_Mutation_p.R95H|LMO2_uc010rel.1_Missense_Mutation_p.R102H|LMO2_uc010rem.1_Missense_Mutation_p.R171H	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN	LIM domain only 2 isoform 2	102	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			lung(1)	1						CTCATAGGCACGAATCCGCTT	0.478			T	TRD@	T-ALL							
RAG1	5896	broad.mit.edu	37	11	36595310	36595310	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:36595310G>A	uc001mwu.3	+	2	580	c.456G>A	c.(454-456)CCG>CCA	p.P152P	RAG1_uc001mwt.2_RNA	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	152	Interaction with importin alpha-1.				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)				CTTCCTGGCCGGACCTCATTG	0.507									Familial_Hemophagocytic_Lymphohistiocytosis			
ALKBH3	221120	broad.mit.edu	37	11	43923097	43923097	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:43923097G>A	uc001mxs.2	+	8	934	c.491G>A	c.(490-492)CGC>CAC	p.R164H	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Missense_Mutation_p.R17H	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	164					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)	CTAAAGAACCGCATTGAAGAG	0.493								Direct_reversal_of_damage				
ACCSL	390110	broad.mit.edu	37	11	44069844	44069844	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:44069844C>T	uc001mxw.1	+	1	314	c.258C>T	c.(256-258)GCC>GCT	p.A86A	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	86							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5						AGTCTGGGGCCGCGAGTGGCC	0.577												
DDB2	1643	broad.mit.edu	37	11	47238526	47238526	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47238526G>A	uc001neb.2	+	3	577	c.382G>A	c.(382-384)GCT>ACT	p.A128T	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Intron|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.A128T|DDB2_uc001nef.2_Missense_Mutation_p.A114T|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_RNA	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	128	WD 1.				nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						CAGCACTGTGGCTGTGGGTTC	0.532			Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
MYBPC3	4607	broad.mit.edu	37	11	47363661	47363661	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47363661G>A	uc001nfa.3	-	17	1726	c.1671C>T	c.(1669-1671)GGC>GGT	p.G557G	MYBPC3_uc010rhl.1_RNA	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	556	Ig-like C2-type 4.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)		GGTCCTTTGCGCCCACCATCA	0.582												
SPI1	6688	broad.mit.edu	37	11	47377075	47377075	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47377075C>A	uc001nfc.1	-	5	739	c.516G>T	c.(514-516)CTG>CTT	p.L172L	MYBPC3_uc001nfa.3_5'Flank|SPI1_uc001nfb.1_Silent_p.L173L|SLC39A13_uc001nfd.2_Intron	NM_003120	NP_003111	P17947	SPI1_HUMAN	hematopoietic transcription factor PU.1 isoform	172	ETS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2				Lung(87;0.0967)		GGAACTGGTACAGGCGGATCT	0.667												
PSMC3	5702	broad.mit.edu	37	11	47446697	47446697	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:47446697G>A	uc001nfh.2	-	3	454	c.260C>T	c.(259-261)CCG>CTG	p.P87L	PSMC3_uc009ylr.1_Intron	NM_002804	NP_002795	P17980	PRS6A_HUMAN	proteasome 26S ATPase subunit 3	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			ovary(4)	4				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACAAGGTACGGCAGGGTCTT	0.512												
OR4S1	256148	broad.mit.edu	37	11	48328289	48328289	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:48328289T>C	uc010rhu.1	+	1	515	c.515T>C	c.(514-516)ATA>ACA	p.I172T		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	172	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCCAATGAGATAGACAACTTC	0.547												
OR4C12	283093	broad.mit.edu	37	11	50003875	50003875	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:50003875A>G	uc010ria.1	-	1	163	c.163T>C	c.(163-165)TCC>CCC	p.S55P		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3						TACATGGGGGAGCTCAGAGCC	0.423												
OR4C46	119749	broad.mit.edu	37	11	51515486	51515486	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:51515486G>T	uc010ric.1	+	1	205	c.205G>T	c.(205-207)GCC>TCC	p.A69S		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	69	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CTTTATTGATGCCTGCTATTC	0.488												
OR5D18	219438	broad.mit.edu	37	11	55587765	55587765	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:55587765G>A	uc010rin.1	+	1	660	c.660G>A	c.(658-660)GCG>GCA	p.A220A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	220	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)				CATCTTATGCGTTCATTGTTG	0.483												
OR9Q2	219957	broad.mit.edu	37	11	57958150	57958150	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:57958150T>G	uc010rka.1	+	1	188	c.188T>G	c.(187-189)CTC>CGC	p.L63R		NM_001005283	NP_001005283	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q,	63	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)|central_nervous_system(1)	4		Breast(21;0.0589)				TACTTCTTCCTCAGCCACCTT	0.547												
OR10W1	81341	broad.mit.edu	37	11	58034831	58034831	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:58034831T>C	uc001nmq.1	-	1	902	c.500A>G	c.(499-501)CAC>CGC	p.H167R		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W,	167	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(21;0.0589)				ACAAAAGAAGTGCTCAATGCC	0.507												
GLYATL1	92292	broad.mit.edu	37	11	58722275	58722275	+	Silent	SNP	C	C	T	rs142174775		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:58722275C>T	uc001nnf.2	+	6	595	c.219C>T	c.(217-219)AAC>AAT	p.N73N	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Silent_p.N104N|GLYATL1_uc001nni.1_Silent_p.N73N|GLYATL1_uc001nnj.1_Silent_p.N73N			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	73						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)	CATACACAAACGTATATCGTA	0.378												
FAM111A	63901	broad.mit.edu	37	11	58920216	58920216	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:58920216T>C	uc010rkp.1	+	5	1302	c.1075T>C	c.(1075-1077)TAC>CAC	p.Y359H	FAM111A_uc010rkq.1_Missense_Mutation_p.Y359H|FAM111A_uc010rkr.1_Missense_Mutation_p.Y359H|FAM111A_uc001nno.2_Missense_Mutation_p.Y359H|FAM111A_uc001nnp.2_Missense_Mutation_p.Y359H|FAM111A_uc001nnq.2_Missense_Mutation_p.Y359H	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	359					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)				CTCAGTTGGGTACTTATTCTG	0.373												
OR4D9	390199	broad.mit.edu	37	11	59282557	59282557	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:59282557C>T	uc010rkv.1	+	1	172	c.172C>T	c.(172-174)CCC>TCC	p.P58S		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CCTTCATACGCCCATGTACTT	0.433												
MS4A4A	51338	broad.mit.edu	37	11	60059718	60059718	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:60059718C>T	uc001noz.2	+	2	72	c.62C>T	c.(61-63)ACA>ATA	p.T21I	MS4A4A_uc001npa.2_Missense_Mutation_p.T2I|MS4A4A_uc001npb.2_Missense_Mutation_p.T2I|MS4A4A_uc001npc.2_Missense_Mutation_p.T2I	NM_148975	NP_683876	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member	21	Cytoplasmic (Potential).					integral to membrane	receptor activity				0						GCTGCCATGACAACCATGCAA	0.493												
AHNAK	79026	broad.mit.edu	37	11	62297304	62297304	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62297304C>A	uc001ntl.2	-	5	4885	c.4585G>T	c.(4585-4587)GAG>TAG	p.E1529*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	1529					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				ATATCCACCTCTGGGCCCTCT	0.522												
EEF1G	1937	broad.mit.edu	37	11	62338457	62338457	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62338457G>T	uc001ntm.1	-	5	648	c.502C>A	c.(502-504)CTG>ATG	p.L168M	EEF1G_uc010rlw.1_Missense_Mutation_p.L218M|EEF1G_uc001ntn.1_Missense_Mutation_p.L48M	NM_001404	NP_001395	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1	168	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity				0						AGCCACAACAGGGTGCAGACA	0.483												
SLC22A6	9356	broad.mit.edu	37	11	62744336	62744336	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62744336C>T	uc001nwk.2	-	10	1929	c.1622G>A	c.(1621-1623)CGA>CAA	p.R541Q	SLC22A6_uc001nwl.2_Missense_Mutation_p.R484Q|SLC22A6_uc001nwj.2_Missense_Mutation_p.R528Q|SLC22A6_uc001nwm.2_Missense_Mutation_p.R497Q	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	solute carrier family 22 member 6 isoform a	541	Cytoplasmic (Potential).				alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding				0						TTGTTGCTGTCGCGTCTGTTT	0.582												
CDC42BPG	55561	broad.mit.edu	37	11	64595231	64595231	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:64595231A>G	uc001obs.3	-	31	3992	c.3992T>C	c.(3991-3993)GTG>GCG	p.V1331A		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1331	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4						CTCGCTGAACACTGTCAGGTA	0.622												
BATF2	116071	broad.mit.edu	37	11	64757176	64757176	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:64757176A>G	uc001ocf.1	-	3	381	c.250T>C	c.(250-252)TGC>CGC	p.C84R	BATF2_uc001oce.1_5'UTR	NM_138456	NP_612465	Q8N1L9	BATF2_HUMAN	basic leucine zipper transcription factor,	84						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						TCCATGGGGCACAGGCGCTCA	0.667												
LTBP3	4054	broad.mit.edu	37	11	65319552	65319552	+	Silent	SNP	G	G	A	rs111330939		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65319552G>A	uc001oej.2	-	8	1691	c.1422C>T	c.(1420-1422)GGC>GGT	p.G474G	LTBP3_uc001oeh.2_5'Flank|LTBP3_uc010roi.1_Silent_p.G357G|LTBP3_uc001oei.2_Silent_p.G474G|LTBP3_uc010roj.1_Silent_p.G175G|LTBP3_uc010rok.1_Silent_p.G385G	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	474						extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						AGTCACTCTCGCCCTGAATGG	0.597											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EHBP1L1	254102	broad.mit.edu	37	11	65347891	65347891	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65347891A>G	uc001oeo.3	+	6	840	c.575A>G	c.(574-576)GAT>GGT	p.D192G	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	192										central_nervous_system(1)	1						GCTGAGAGTGATGAAGATGAG	0.597												
FIBP	9158	broad.mit.edu	37	11	65652091	65652091	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65652091G>A	uc001ogd.2	-	8	998	c.877C>T	c.(877-879)CTG>TTG	p.L293L	FIBP_uc009yqu.2_Silent_p.L283L|FIBP_uc001oge.2_Silent_p.L286L	NM_198897	NP_942600	O43427	FIBP_HUMAN	FGF intracellular binding protein isoform a	293					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.166)		TTGTGGGTCAGCTTGGCGGCC	0.582											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CATSPER1	117144	broad.mit.edu	37	11	65792929	65792929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:65792929C>T	uc001ogt.2	-	1	1060	c.922G>A	c.(922-924)GCG>ACG	p.A308T		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	308	His-rich.|Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GAATGATACGCGCCgtggtgg	0.308												
RAB1B	81876	broad.mit.edu	37	11	66039698	66039698	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:66039698A>G	uc001ohf.2	+	3	253	c.158A>G	c.(157-159)GAT>GGT	p.D53G	uc001ohg.1_RNA	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	53					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding				0						ATCGAGCTGGATGGCAAAACT	0.512												
BRMS1	25855	broad.mit.edu	37	11	66109071	66109071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:66109071G>A	uc001ohp.1	-	3	310	c.163C>T	c.(163-165)CGA>TGA	p.R55*	BRMS1_uc001oho.1_Nonsense_Mutation_p.R55*|BRMS1_uc009yre.2_5'Flank	NM_015399	NP_056214	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1 isoform 1	55					apoptosis|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding				0						CTGCGGCGTCGCTCATAGTCC	0.527												
RBM4B	83759	broad.mit.edu	37	11	66436136	66436136	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:66436136G>A	uc001oja.2	-	2	1708	c.1039C>T	c.(1039-1041)CGG>TGG	p.R347W	RBM4B_uc001ojb.2_Missense_Mutation_p.R347W	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	347	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding				0						TACTGCTCCCGTTCATACCGG	0.502												
CORO1B	57175	broad.mit.edu	37	11	67208646	67208646	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:67208646T>C	uc001olj.1	-	5	742	c.706A>G	c.(706-708)ACC>GCC	p.T236A	CORO1B_uc009yrs.1_RNA|CORO1B_uc001olk.1_Missense_Mutation_p.T236A|CORO1B_uc009yrt.1_RNA|CORO1B_uc009yru.1_RNA|CORO1B_uc001oll.1_Missense_Mutation_p.T236A|CORO1B_uc010rps.1_Missense_Mutation_p.T236A	NM_020441	NP_065174	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	236	WD 4.				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			large_intestine(1)|ovary(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			AAGCCTGTGGTGAACACCTTG	0.672												
GPR152	390212	broad.mit.edu	37	11	67218801	67218801	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:67218801C>T	uc001olm.2	-	1	1400	c.1395G>A	c.(1393-1395)CCG>CCA	p.P465P	uc009yrw.1_5'Flank|CABP4_uc001oln.2_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	465	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCTGCGCCCGGGGCCGCCT	0.682												
ANO1	55107	broad.mit.edu	37	11	70007826	70007826	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:70007826T>C	uc001opj.2	+	18	2184	c.1879T>C	c.(1879-1881)TTC>CTC	p.F627L	ANO1_uc001opk.1_Missense_Mutation_p.F569L|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.F336L	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	627	Helical; (Potential).				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2						TTACGTGGCGTTCTTCAAAGG	0.552												
RNF121	55298	broad.mit.edu	37	11	71705854	71705854	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:71705854A>C	uc001ora.2	+	7	1057	c.717A>C	c.(715-717)GAA>GAC	p.E239D	RNF121_uc001ord.2_Missense_Mutation_p.E158D|RNF121_uc001orb.2_Missense_Mutation_p.E207D|RNF121_uc009yst.2_Intron	NM_018320	NP_060790	Q9H920	RN121_HUMAN	ring finger protein 121	239	RING-type; atypical.					integral to membrane	zinc ion binding				0						ACGTCAGTGAAGAGGGGATCA	0.517												
C11orf51	25906	broad.mit.edu	37	11	71822201	71822201	+	Splice_Site	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:71822201A>G	uc001orw.2	-	3	342	c.120_splice	c.e3+1	p.W40_splice	C11orf51_uc009ytc.1_Intron|C11orf51_uc001orv.2_Splice_Site_p.W40_splice	NM_014042	NP_054761	P60006	CK051_HUMAN	hypothetical protein LOC25906							intracellular					0						CTGCTCACTCACCCAGGCCTG	0.557												
CLPB	81570	broad.mit.edu	37	11	72013356	72013356	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:72013356G>A	uc001osj.2	-	11	1299	c.1249C>T	c.(1249-1251)CGA>TGA	p.R417*	CLPB_uc010rqx.1_Nonsense_Mutation_p.R372*|CLPB_uc010rqy.1_Nonsense_Mutation_p.R358*|CLPB_uc001osk.2_Nonsense_Mutation_p.R387*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Nonsense_Mutation_p.R216*|CLPB_uc001osi.2_Nonsense_Mutation_p.R25*	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	caseinolytic peptidase B	417					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			pancreas(1)	1						ACCTCGTGTCGCTCCTGGAAC	0.522												
CTSC	1075	broad.mit.edu	37	11	88027550	88027550	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:88027550C>T	uc001pck.3	-	7	1117	c.1016G>A	c.(1015-1017)CGT>CAT	p.R339H	CTSC_uc001pcl.3_Missense_Mutation_p.R191H	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	339			R -> C (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGAGTAATAACGAAAGCAGTC	0.483												
FAT3	120114	broad.mit.edu	37	11	92430571	92430571	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:92430571G>T	uc001pdj.3	+	3	3646	c.3629G>T	c.(3628-3630)AGG>ATG	p.R1210M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1210	Cadherin 11.|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)				ACAACTTCAAGGAAATTGGAT	0.383										TCGA Ovarian(4;0.039)		
MAML2	84441	broad.mit.edu	37	11	95712275	95712275	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:95712275C>A	uc001pfw.1	-	5	4593	c.3308G>T	c.(3307-3309)AGC>ATC	p.S1103I		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	1103					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TAAGTCACTGCTGTGGTCAGT	0.473			T	MECT1|CRTC3	salivary gland mucoepidermoid							
MMP1	4312	broad.mit.edu	37	11	102667472	102667472	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:102667472T>C	uc001phi.2	-	4	691	c.548A>G	c.(547-549)CAT>CGT	p.H183R	uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.H117R	NM_002421	NP_002412	P03956	MMP1_HUMAN	matrix metalloproteinase 1 isoform 1	183	Metalloprotease.	Zinc 1.			blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)|lung(1)	4	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TTGAAAAGCATGAGCAAGATT	0.423												
GUCY1A2	2977	broad.mit.edu	37	11	106810870	106810870	+	Silent	SNP	A	A	G	rs61736490		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:106810870A>G	uc001pjg.1	-	4	912	c.522T>C	c.(520-522)GGT>GGC	p.G174G	GUCY1A2_uc010rvo.1_Silent_p.G174G|GUCY1A2_uc009yxn.1_Silent_p.G174G	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	174					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AGAACTCTTCACCAAATCTTT	0.338												
ZC3H12C	85463	broad.mit.edu	37	11	110030105	110030105	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:110030105G>A	uc009yxw.2	+	4	1089	c.1038G>A	c.(1036-1038)TCG>TCA	p.S346S	ZC3H12C_uc010rwc.1_Silent_p.S347S|ZC3H12C_uc010rwd.1_Silent_p.S347S|ZC3H12C_uc001pkr.3_Silent_p.S315S|ZC3H12C_uc001pkq.2_Silent_p.S315S	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	346							endonuclease activity|nucleic acid binding|zinc ion binding				0		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CTTTTGAGTCGGACGGTATCA	0.463												
ZBTB16	7704	broad.mit.edu	37	11	113934373	113934373	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:113934373G>A	uc001pop.2	+	2	615	c.351G>A	c.(349-351)CAG>CAA	p.Q117Q	ZBTB16_uc001poo.1_Silent_p.Q117Q|ZBTB16_uc001poq.2_Silent_p.Q117Q	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	117					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGAGGAACAGTGCCTGAAGA	0.602												
ZBTB16	7704	broad.mit.edu	37	11	114121133	114121133	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:114121133C>T	uc001pop.2	+	7	2142	c.1878C>T	c.(1876-1878)GGC>GGT	p.G626G	ZBTB16_uc001poq.2_Silent_p.G626G	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	promyelocytic leukemia zinc finger protein	626					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|skin(1)	2		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCACAACGGCGCCTCGCCCT	0.627												
CADM1	23705	broad.mit.edu	37	11	115111047	115111047	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:115111047A>G	uc001ppi.3	-	2	347	c.218T>C	c.(217-219)GTG>GCG	p.V73A	CADM1_uc001ppf.3_Missense_Mutation_p.V73A|CADM1_uc001ppk.3_Missense_Mutation_p.V73A|CADM1_uc001ppj.3_Missense_Mutation_p.V73A|CADM1_uc001ppl.2_Missense_Mutation_p.V73A	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	immunoglobulin superfamily, member 4D isoform 1	73	Ig-like V-type.|Extracellular (Potential).				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			ovary(2)	2	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TAGCTGAATCACAGAGTCGTC	0.438												
CEP164	22897	broad.mit.edu	37	11	117222588	117222588	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:117222588C>T	uc001prc.2	+	5	424	c.277C>T	c.(277-279)CGG>TGG	p.R93W	CEP164_uc001prb.2_Missense_Mutation_p.R93W|CEP164_uc001prd.2_Missense_Mutation_p.R93W|CEP164_uc010rxj.1_Missense_Mutation_p.R47W|CEP164_uc010rxk.1_Missense_Mutation_p.R93W	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	93	Interaction with ATRIP.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				ovary(1)|central_nervous_system(1)	2	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CGAACACTATCGGAGCTTGGT	0.423												
GRAMD1B	57476	broad.mit.edu	37	11	123464792	123464792	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:123464792G>A	uc001pyx.2	+	4	587	c.258G>A	c.(256-258)GTG>GTA	p.V86V	GRAMD1B_uc001pyw.2_Silent_p.V93V|GRAMD1B_uc010rzw.1_Silent_p.V46V|GRAMD1B_uc010rzx.1_Silent_p.V46V|GRAMD1B_uc009zbe.1_Silent_p.V82V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	86						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCACGCAGGTGTTAAGCCCCA	0.498												
OR6M1	390261	broad.mit.edu	37	11	123676673	123676673	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:123676673G>A	uc010rzz.1	-	1	385	c.385C>T	c.(385-387)CAC>TAC	p.H129Y		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	129	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ACCGTGTAGTGCAGTGGGTCG	0.517												
ST3GAL4	6484	broad.mit.edu	37	11	126278260	126278260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:126278260C>T	uc001qds.2	+	8	715	c.496C>T	c.(496-498)CGT>TGT	p.R166C	ST3GAL4_uc001qdt.2_Missense_Mutation_p.R162C|ST3GAL4_uc009zcc.2_Missense_Mutation_p.R2C|ST3GAL4_uc009zcd.2_Missense_Mutation_p.R155C|ST3GAL4_uc001qdu.2_Missense_Mutation_p.R162C|ST3GAL4_uc001qdv.2_Missense_Mutation_p.R166C|ST3GAL4_uc009zce.2_Missense_Mutation_p.R162C|ST3GAL4_uc001qdw.2_Missense_Mutation_p.R155C|ST3GAL4_uc001qdx.1_Missense_Mutation_p.R123C|ST3GAL4_uc001qdy.2_Missense_Mutation_p.R2C|ST3GAL4_uc001qdz.2_Missense_Mutation_p.R2C	NM_006278	NP_006269	Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	166	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		GACCACCATGCGTCTCTTCTA	0.552												
C11orf45	219833	broad.mit.edu	37	11	128774355	128774355	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:128774355G>T	uc001qeu.2	-	2	301	c.107C>A	c.(106-108)CCC>CAC	p.P36H	KCNJ5_uc001qet.2_Intron|KCNJ5_uc009zck.2_Intron|C11orf45_uc009zcl.2_Missense_Mutation_p.P36H|C11orf45_uc001qev.2_Missense_Mutation_p.P36H	NM_145013	NP_659450	Q8TAV5	CK045_HUMAN	hypothetical protein LOC219833 precursor	36						extracellular region					0	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		CCAGATTCtgggactaggcat	0.144												
KCNJ5	3762	broad.mit.edu	37	11	128781942	128781942	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:128781942C>T	uc001qet.2	+	2	1088	c.774C>T	c.(772-774)AAC>AAT	p.N258N	KCNJ5_uc009zck.2_Silent_p.N258N|KCNJ5_uc001qew.2_Silent_p.N258N	NM_000890	NP_000881	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel J5	258	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			skin(1)	1	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAGACATCAACGTGGGCTTTG	0.577												
ERC1	23085	broad.mit.edu	37	12	1213982	1213982	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:1213982G>A	uc001qjb.2	+	4	1394	c.1153G>A	c.(1153-1155)GAG>AAG	p.E385K	ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Missense_Mutation_p.E385K|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E385K|ERC1_uc010sdv.1_Missense_Mutation_p.E161K|ERC1_uc009zdp.2_Missense_Mutation_p.E22K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	RAB6-interacting protein 2 isoform epsilon	385	Potential.				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AACTGTTATTGAGATGAAGGT	0.373												
PARP11	57097	broad.mit.edu	37	12	3921464	3921464	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:3921464C>A	uc001qmk.1	-	7	876	c.821G>T	c.(820-822)CGA>CTA	p.R274L	PARP11_uc001qml.2_Missense_Mutation_p.R281L|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Missense_Mutation_p.R200L|PARP11_uc001qmn.2_Missense_Mutation_p.R200L	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	274	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			AATTAGCACTCGAGCAAGAAA	0.408												
VWF	7450	broad.mit.edu	37	12	6131131	6131131	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6131131G>A	uc001qnn.1	-	27	3859	c.3609C>T	c.(3607-3609)GGC>GGT	p.G1203G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1203					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	CAAAACGCCGGCCAGCCACCT	0.488												
VWF	7450	broad.mit.edu	37	12	6161758	6161758	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6161758C>T	uc001qnn.1	-	16	2387	c.2137G>A	c.(2137-2139)GGT>AGT	p.G713S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	713					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12					Antihemophilic Factor(DB00025)	AAGATCTCACCGTCATAGTAA	0.532												
ACRBP	84519	broad.mit.edu	37	12	6749364	6749364	+	Silent	SNP	G	G	A	rs143853195		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6749364G>A	uc001qpu.1	-	8	1335	c.1287C>T	c.(1285-1287)TAC>TAT	p.Y429Y	LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Silent_p.Y396Y	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	proacrosin binding protein sp32 precursor	429						acrosomal vesicle|extracellular region				central_nervous_system(1)	1						AATCCAGCCCGTAAAAGCGGC	0.632												
SPSB2	84727	broad.mit.edu	37	12	6981674	6981674	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:6981674C>T	uc001qrl.2	-	2	548	c.392G>A	c.(391-393)TGG>TAG	p.W131*	SPSB2_uc001qrm.2_Nonsense_Mutation_p.W131*|SPSB2_uc010sfp.1_Nonsense_Mutation_p.W131*|LRRC23_uc001qrn.1_5'Flank	NM_001146316	NP_001139788	Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box	131	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(1)	1						GTCCCAGCCCCACGACTCGCT	0.701											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
C1RL	51279	broad.mit.edu	37	12	7249058	7249058	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:7249058C>A	uc001qsn.2	-	6	1410	c.1393G>T	c.(1393-1395)GGG>TGG	p.G465W	C1RL_uc009zft.2_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	465	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			pancreas(1)	1						AAGTCATACCCTTCGCCACAC	0.567												
ATF7IP	55729	broad.mit.edu	37	12	14577496	14577496	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:14577496C>A	uc001rbw.2	+	2	805	c.647C>A	c.(646-648)CCT>CAT	p.P216H	ATF7IP_uc010shs.1_Missense_Mutation_p.P216H|ATF7IP_uc001rbu.2_Missense_Mutation_p.P216H|ATF7IP_uc001rbv.1_Missense_Mutation_p.P216H|ATF7IP_uc001rbx.2_Missense_Mutation_p.P216H|ATF7IP_uc010sht.1_Missense_Mutation_p.P216H|ATF7IP_uc001rby.3_Missense_Mutation_p.P216H|ATF7IP_uc001rbz.1_Missense_Mutation_p.P216H|ATF7IP_uc001rca.2_Missense_Mutation_p.P216H|ATF7IP_uc001rcb.2_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	216					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5						GAACCGGTCCCTGTTGAACCC	0.522												
PTPRO	5800	broad.mit.edu	37	12	15650227	15650227	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:15650227C>T	uc001rcv.1	+	3	572	c.398C>T	c.(397-399)CCT>CTT	p.P133L	PTPRO_uc001rcw.1_Missense_Mutation_p.P133L|PTPRO_uc001rcu.1_Missense_Mutation_p.P133L	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	receptor-type protein tyrosine phosphatase O	133	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9		Hepatocellular(102;0.244)				AAACCTTCTCCTGAAACAGGA	0.383												
PIK3C2G	5288	broad.mit.edu	37	12	18719882	18719882	+	Splice_Site	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:18719882G>T	uc001rdt.2	+	28	3896	c.3780_splice	c.e28-1	p.E1260_splice	PIK3C2G_uc010sia.1_Splice_Site|PIK3C2G_uc010sib.1_Splice_Site_p.E1301_splice|PIK3C2G_uc010sic.1_Splice_Site_p.E1079_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN	phosphoinositide-3-kinase, class 2 gamma						cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2)	21		Hepatocellular(102;0.194)				TCTTAAAACAGGTTTCCTCAT	0.338												
SLCO1C1	53919	broad.mit.edu	37	12	20868189	20868189	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:20868189G>A	uc001rej.3	+	7	1001	c.646G>A	c.(646-648)GCC>ACC	p.A216T	SLCO1C1_uc010sii.1_Missense_Mutation_p.A216T|SLCO1C1_uc010sij.1_Intron|SLCO1C1_uc009zip.2_Missense_Mutation_p.A50T|SLCO1C1_uc001rei.2_Missense_Mutation_p.A216T|SLCO1C1_uc010sik.1_Missense_Mutation_p.A98T	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	216	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)					GGATGATTTTGCCAGTGAAGA	0.423												
SLCO1B3	28234	broad.mit.edu	37	12	21242842	21242842	+	Silent	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:21242842A>T	uc010sil.1	+	16	2114	c.2049A>T	c.(2047-2049)GGA>GGT	p.G683G	LST-3TM12_uc010sim.1_Silent_p.G622G|LST-3TM12_uc010sin.1_Silent_p.G575G			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)					CTTTTCACAGAAGAGCCTTCT	0.294												
IAPP	3375	broad.mit.edu	37	12	21531349	21531349	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:21531349T>A	uc001rev.2	+	3	411	c.259T>A	c.(259-261)TTG>ATG	p.L87M	SLCO1A2_uc001res.2_Intron|SLCO1A2_uc010siq.1_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	islet amyloid polypeptide precursor	87					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity				0					Perindopril(DB00790)	ACTGAATTACTTGCCCCTTTA	0.383												
ABCC9	10060	broad.mit.edu	37	12	21971084	21971084	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:21971084C>T	uc001rfi.1	-	30	3791	c.3771G>A	c.(3769-3771)ACG>ACA	p.T1257T	ABCC9_uc001rfh.2_Silent_p.T1257T|ABCC9_uc001rfj.1_Silent_p.T1221T	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1257	Helical; Name=15; (Potential).|ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCATACCTACCGTAAGTGCAT	0.254												
CASC1	55259	broad.mit.edu	37	12	25302613	25302613	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:25302613C>T	uc001rgl.2	-	6	598	c.516G>A	c.(514-516)CTG>CTA	p.L172L	CASC1_uc001rgk.2_Silent_p.L178L|CASC1_uc001rgm.3_Silent_p.L236L|CASC1_uc001rgj.2_Silent_p.L132L|CASC1_uc010sje.1_Silent_p.L113L|CASC1_uc010sjf.1_Silent_p.L60L|CASC1_uc010sjg.1_Silent_p.L172L	NM_001082973	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1 isoform b	172										ovary(2)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GGAGCTCCTGCAGTTGTAGTA	0.299												
ITPR2	3709	broad.mit.edu	37	12	26636652	26636652	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:26636652C>A	uc001rhg.2	-	42	6408	c.5991G>T	c.(5989-5991)CAG>CAT	p.Q1997H	ITPR2_uc009zjg.1_Missense_Mutation_p.Q148H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1997	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					GGCAAGGGCCCTGGCAATACT	0.468												
PPFIBP1	8496	broad.mit.edu	37	12	27842020	27842020	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:27842020C>T	uc001ric.1	+	26	2964	c.2587C>T	c.(2587-2589)CGA>TGA	p.R863*	PPFIBP1_uc010sjr.1_Nonsense_Mutation_p.R694*|PPFIBP1_uc001rib.1_Nonsense_Mutation_p.R857*|PPFIBP1_uc001ria.2_Nonsense_Mutation_p.R832*|PPFIBP1_uc001rid.1_Nonsense_Mutation_p.R710*|PPFIBP1_uc001rif.1_Nonsense_Mutation_p.R370*	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	863	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)					GACTTTGCTGCGAAGACATTT	0.438												
ADCY6	112	broad.mit.edu	37	12	49165630	49165630	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49165630A>G	uc001rsh.3	-	18	3574	c.2914T>C	c.(2914-2916)TAT>CAT	p.Y972H	ADCY6_uc001rsj.3_Missense_Mutation_p.Y972H|ADCY6_uc001rsi.3_Missense_Mutation_p.Y919H|ADCY6_uc010slw.1_Missense_Mutation_p.Y203H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	972	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						CACGACTGATAGTAGAGTTCA	0.552												
MLL2	8085	broad.mit.edu	37	12	49415918	49415918	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49415918A>C	uc001rta.3	-	53	16429	c.16429T>G	c.(16429-16431)TGT>GGT	p.C5477G		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5477	SET.	Zinc (By similarity).			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						TTAGGGGCACAGGAATGGTTA	0.512			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
KCNH3	23416	broad.mit.edu	37	12	49948282	49948282	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49948282G>A	uc001ruh.1	+	11	2341	c.2081G>A	c.(2080-2082)CGT>CAT	p.R694H	KCNH3_uc010smj.1_Missense_Mutation_p.R634H	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H	694	cNMP.|Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity				0						CGCTTCAGTCGTGGCCTCCGA	0.652												
PRPF40B	25766	broad.mit.edu	37	12	50025218	50025218	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:50025218C>T	uc001rur.1	+	2	117	c.53C>T	c.(52-54)CCG>CTG	p.P18L	PRPF40B_uc001rup.1_Missense_Mutation_p.P40L|PRPF40B_uc001ruq.1_Missense_Mutation_p.P12L|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Huntingtin interacting protein C isoform 1	18	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						CCCTTTCCTCCGATGGGGCTA	0.602												
SLC4A8	9498	broad.mit.edu	37	12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:51882498C>T	uc001rys.1	+	18	2480	c.2302C>T	c.(2302-2304)CGC>TGC	p.R768C	SLC4A8_uc001rym.2_Missense_Mutation_p.R715C|SLC4A8_uc001ryn.2_Missense_Mutation_p.R715C|SLC4A8_uc001ryo.2_Missense_Mutation_p.R715C|SLC4A8_uc010snj.1_Missense_Mutation_p.R795C|SLC4A8_uc001ryr.2_Missense_Mutation_p.R768C	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate	768	Extracellular (Potential).				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			ovary(3)|pancreas(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378												
CSAD	51380	broad.mit.edu	37	12	53565756	53565756	+	Missense_Mutation	SNP	C	C	T	rs138203066	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:53565756C>T	uc001sby.2	-	6	487	c.361G>A	c.(361-363)GCC>ACC	p.A121T	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Missense_Mutation_p.A148T|CSAD_uc001sbz.2_Missense_Mutation_p.A121T|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_Missense_Mutation_p.A121T	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	121					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AACACGGGGGCGATTTCATAT	0.562									Hereditary_Prostate_Cancer			
CALCOCO1	57658	broad.mit.edu	37	12	54115307	54115307	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54115307C>A	uc001sef.2	-	6	846	c.702G>T	c.(700-702)GAG>GAT	p.E234D	CALCOCO1_uc010som.1_Missense_Mutation_p.E201D|CALCOCO1_uc010son.1_Missense_Mutation_p.E111D|CALCOCO1_uc001seh.2_Missense_Mutation_p.E234D|CALCOCO1_uc009znd.2_Missense_Mutation_p.E234D|CALCOCO1_uc001seg.2_Missense_Mutation_p.E111D|CALCOCO1_uc010soo.1_Missense_Mutation_p.E227D	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	234	Potential.				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1						GGATGTCATCCTCTAGCTCCA	0.567												
HOXC6	3223	broad.mit.edu	37	12	54422366	54422366	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54422366C>T	uc001sev.2	+	1	173	c.61C>T	c.(61-63)CTC>TTC	p.L21F	HOXC6_uc001ses.2_5'UTR|HOXC5_uc001set.2_Intron|HOXC4_uc001seu.2_Intron	NM_004503	NP_004494	P09630	HXC6_HUMAN	homeobox C6 isoform 1	21					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|upper_aerodigestive_tract(1)	3						CCAGGACGTCCTCCCCAACGT	0.542												
NCKAP1L	3071	broad.mit.edu	37	12	54913073	54913073	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54913073G>A	uc001sgc.3	+	16	1661	c.1582G>A	c.(1582-1584)GTA>ATA	p.V528I	NCKAP1L_uc010sox.1_Missense_Mutation_p.V70I|NCKAP1L_uc010soy.1_Missense_Mutation_p.V478I	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	528					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						GCTGGACTCCGTAGAAAAATT	0.433												
NCKAP1L	3071	broad.mit.edu	37	12	54920460	54920460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:54920460G>A	uc001sgc.3	+	21	2384	c.2305G>A	c.(2305-2307)GCC>ACC	p.A769T	NCKAP1L_uc010sox.1_Missense_Mutation_p.A311T|NCKAP1L_uc010soy.1_Missense_Mutation_p.A719T	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	769				NA -> KP (in Ref. 1; AAA35964).	actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4						CATCCGCAACGCCCTCCTGCA	0.517												
OR6C70	390327	broad.mit.edu	37	12	55863562	55863562	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:55863562A>G	uc010spn.1	-	1	361	c.361T>C	c.(361-363)TAT>CAT	p.Y121H		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ATGGCAACATAGCGATCATAG	0.388												
ERBB3	2065	broad.mit.edu	37	12	56487323	56487323	+	Missense_Mutation	SNP	G	G	A	rs149951770		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56487323G>A	uc001sjh.2	+	12	1662	c.1469G>A	c.(1468-1470)CGC>CAC	p.R490H	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R431H|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R58H	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	490	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)			AATCGGCCGCGCAGAGACTGC	0.567												
ERBB3	2065	broad.mit.edu	37	12	56495459	56495459	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56495459C>A	uc001sjh.2	+	28	3842	c.3649C>A	c.(3649-3651)CTT>ATT	p.L1217I	ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Missense_Mutation_p.L574I|ERBB3_uc010sqc.1_Missense_Mutation_p.L1158I|ERBB3_uc009zok.2_Missense_Mutation_p.L482I|ERBB3_uc001sjk.2_Missense_Mutation_p.L458I|ERBB3_uc001sjl.2_Missense_Mutation_p.L337I|PA2G4_uc001sjm.2_5'Flank|PA2G4_uc009zol.2_5'Flank|PA2G4_uc009zom.2_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	1217	Cytoplasmic (Potential).				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCCAAGTTCCCTTGAGGAGCT	0.537												
ESYT1	23344	broad.mit.edu	37	12	56532561	56532561	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56532561G>A	uc001sjq.2	+	23	2493	c.2443G>A	c.(2443-2445)GGC>AGC	p.G815S	ESYT1_uc001sjr.2_Missense_Mutation_p.G825S	NM_015292	NP_056107	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	815	C2 4.					integral to membrane				ovary(4)|skin(1)	5						GCTGCGAAAAGGCACCAAGCA	0.448												
TIMELESS	8914	broad.mit.edu	37	12	56811689	56811689	+	Splice_Site	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56811689A>G	uc001slf.2	-	28	3724	c.3556_splice	c.e28+1	p.A1186_splice		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog						cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						CAAATTCCCTACCTCTGTTCC	0.463												
TIMELESS	8914	broad.mit.edu	37	12	56817369	56817369	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:56817369G>A	uc001slf.2	-	17	2257	c.2089C>T	c.(2089-2091)CGC>TGC	p.R697C		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	timeless homolog	697					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				ovary(5)|breast(2)|pancreas(1)	8						AGCCCGCACCGTTTCAGGTAG	0.418												
PRIM1	5557	broad.mit.edu	37	12	57128007	57128007	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57128007T>C	uc001smd.2	-	12	1231	c.1167A>G	c.(1165-1167)GCA>GCG	p.A389A		NM_000946	NP_000937	P49642	PRI1_HUMAN	DNA primase polypeptide 1	389					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding				0						TCACATAAGGTGCTAGACTGG	0.328												
MARS	4141	broad.mit.edu	37	12	57906639	57906639	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57906639A>G	uc001sog.2	+	15	1882	c.1859A>G	c.(1858-1860)TAT>TGT	p.Y620C	MARS_uc001sof.1_RNA|MARS_uc010srq.1_Missense_Mutation_p.Y386C|MARS_uc001soh.1_Missense_Mutation_p.Y15C	NM_004990	NP_004981	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	620					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			ovary(3)|central_nervous_system(1)|pancreas(1)	5			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGCGCTTCTATCTGCTGTAC	0.547												
DYRK2	8445	broad.mit.edu	37	12	68051258	68051258	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:68051258C>T	uc001str.3	+	3	973	c.571C>T	c.(571-573)CGC>TGC	p.R191C	DYRK2_uc001sts.3_Missense_Mutation_p.R118C	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	191					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGCTAAGAAGCGCCAGGGCAT	0.473												
DYRK2	8445	broad.mit.edu	37	12	68052038	68052038	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:68052038C>T	uc001str.3	+	3	1753	c.1351C>T	c.(1351-1353)CGA>TGA	p.R451*	DYRK2_uc001sts.3_Nonsense_Mutation_p.R378*	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	451	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		TGCATCCAAACGAGCCAAAAA	0.547												
BBS10	79738	broad.mit.edu	37	12	76739774	76739774	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:76739774G>A	uc001syd.1	-	2	2075	c.1991C>T	c.(1990-1992)GCA>GTA	p.A664V		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	664					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			ovary(1)|skin(1)	2						GGTTTGCAGTGCATGGACAGC	0.373									Bardet-Biedl_syndrome			
NAV3	89795	broad.mit.edu	37	12	78400518	78400518	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:78400518G>A	uc001syp.2	+	8	1373	c.1200G>A	c.(1198-1200)CCG>CCA	p.P400P	NAV3_uc001syo.2_Silent_p.P400P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	400						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						TACGCCCCCCGCAGCCTCCCA	0.502										HNSCC(70;0.22)		
PLXNC1	10154	broad.mit.edu	37	12	94631565	94631565	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:94631565C>A	uc001tdc.2	+	10	2355	c.2106C>A	c.(2104-2106)ACC>ACA	p.T702T		NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	702	Extracellular (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3						GAACCAGTACCTGTGATAAGG	0.408												
LTA4H	4048	broad.mit.edu	37	12	96412962	96412962	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:96412962G>A	uc001ten.1	-	7	763	c.695C>T	c.(694-696)GCT>GTT	p.A232V	LTA4H_uc010suy.1_Missense_Mutation_p.A194V|LTA4H_uc010suz.1_Missense_Mutation_p.A194V|LTA4H_uc010sva.1_RNA	NM_000895	NP_000886	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	232					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)	1						AAACTCATAAGCAGACTTTTC	0.353												
DRAM1	55332	broad.mit.edu	37	12	102302036	102302036	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:102302036C>A	uc001tix.2	+	4	878	c.415C>A	c.(415-417)CTA>ATA	p.L139I	DRAM1_uc010svv.1_Intron	NM_018370	NP_060840	Q8N682	DRAM1_HUMAN	DNA-damage regulated autophagy modulator 1	139					apoptosis|autophagy	integral to membrane|lysosomal membrane				ovary(1)	1						GTACACGCTCCTACAGTCCAT	0.498												
STAB2	55576	broad.mit.edu	37	12	104160109	104160109	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:104160109C>G	uc001tjw.2	+	69	7837	c.7651C>G	c.(7651-7653)CTG>GTG	p.L2551V	STAB2_uc009zug.2_RNA	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	2551	Cytoplasmic (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						CTTGAGGACACTGTGAGGGCC	0.542												
NUAK1	9891	broad.mit.edu	37	12	106464587	106464587	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:106464587C>T	uc001tlj.1	-	6	2177	c.797G>A	c.(796-798)AGC>AAC	p.S266N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	266	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CTCTCCGCTGCTGATTTGCCG	0.547												
NUAK1	9891	broad.mit.edu	37	12	106480539	106480539	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:106480539G>A	uc001tlj.1	-	3	1866	c.486C>T	c.(484-486)ATC>ATT	p.I162I		NM_014840	NP_055655	O60285	NUAK1_HUMAN	AMPK-related protein kinase 5	162	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2						CAGCAGAGACGATCTGCCGGA	0.507												
ACACB	32	broad.mit.edu	37	12	109604665	109604665	+	Splice_Site	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:109604665G>T	uc001tob.2	+	3	773	c.654_splice	c.e3-1	p.R218_splice	ACACB_uc001toc.2_Splice_Site_p.R218_splice	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	TTATTCTGCAGGCCGAGCATG	0.572												
ACACB	32	broad.mit.edu	37	12	109675059	109675059	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:109675059C>T	uc001tob.2	+	34	4655	c.4536C>T	c.(4534-4536)GCC>GCT	p.A1512A	ACACB_uc001toc.2_Silent_p.A1512A|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.A178A	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1512					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	ATCTGACCGCCGTGCCCTGTG	0.552												
ACACB	32	broad.mit.edu	37	12	109680283	109680283	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:109680283C>T	uc001tob.2	+	37	5183	c.5064C>T	c.(5062-5064)CAC>CAT	p.H1688H	ACACB_uc001toc.2_Silent_p.H1688H|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Silent_p.H354H	NM_001093	NP_001084	O00763	ACACB_HUMAN	acetyl-Coenzyme A carboxylase beta	1688					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)	GGCCCCAGCACGGGATGCTGA	0.537												
ATP2A2	488	broad.mit.edu	37	12	110781180	110781180	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:110781180G>A	uc001tqk.3	+	16	3025	c.2462G>A	c.(2461-2463)CGG>CAG	p.R821Q	ATP2A2_uc001tql.3_Missense_Mutation_p.R821Q|ATP2A2_uc010sxy.1_Missense_Mutation_p.R794Q|ATP2A2_uc001tqn.3_5'Flank|ATP2A2_uc009zvn.2_5'Flank	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	821	Cytoplasmic (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4						AAACCTCCCCGGAACCCAAAG	0.463												
ATXN2	6311	broad.mit.edu	37	12	111893896	111893896	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:111893896C>T	uc001tsj.2	-	23	3843	c.3681G>A	c.(3679-3681)ACG>ACA	p.T1227T	ATXN2_uc001tsh.2_Silent_p.T962T|ATXN2_uc001tsi.2_Silent_p.T920T|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Silent_p.T415T|ATXN2_uc001tsl.1_Silent_p.T228T	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	1227					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2						AAGGATGGATCGTAAAGACAG	0.557												
ACAD10	80724	broad.mit.edu	37	12	112140085	112140085	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:112140085C>T	uc001tsq.2	+	3	507	c.307C>T	c.(307-309)CGA>TGA	p.R103*	ACAD10_uc009zvw.2_Nonsense_Mutation_p.R103*|ACAD10_uc001tso.3_Nonsense_Mutation_p.R103*|ACAD10_uc001tsp.2_Nonsense_Mutation_p.R103*|ACAD10_uc009zvx.2_Nonsense_Mutation_p.R103*	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN	acyl-Coenzyme A dehydrogenase family, member 10	103							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			ovary(2)	2						GGGTTTTTTACGAGAATTTGG	0.393												
C12orf51	283450	broad.mit.edu	37	12	112650367	112650367	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:112650367T>C	uc009zwc.2	-	42	6305	c.6287A>G	c.(6286-6288)TAC>TGC	p.Y2096C	C12orf51_uc001ttr.1_Missense_Mutation_p.Y271C	NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						CTGCCCGCAGTATGTGAAGTA	0.557												
DTX1	1840	broad.mit.edu	37	12	113532908	113532908	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:113532908C>T	uc001tuk.1	+	7	1784	c.1448C>T	c.(1447-1449)CCG>CTG	p.P483L		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	483					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4						GGTACGCAGCCGCCTGGGAAG	0.647												
TBX3	6926	broad.mit.edu	37	12	115120662	115120662	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:115120662T>C	uc001tvt.1	-	1	1308	c.344A>G	c.(343-345)CAG>CGG	p.Q115R	TBX3_uc001tvu.1_Missense_Mutation_p.Q115R|TBX3_uc010syw.1_Missense_Mutation_p.Q115R	NM_016569	NP_057653	O15119	TBX3_HUMAN	T-box 3 protein isoform 2	115	T-box; first part.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			ovary(2)|skin(1)	3	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTTGTGAAACTGATCCCAAAG	0.567												
NOS1	4842	broad.mit.edu	37	12	117685162	117685162	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:117685162C>A	uc001twm.1	-	18	3500	c.2814G>T	c.(2812-2814)AAG>AAT	p.K938N		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	938	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTTGAAGACCTTCTTGGCCC	0.512												
RSRC2	65117	broad.mit.edu	37	12	123001921	123001921	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:123001921C>T	uc001ucr.2	-	5	601	c.455G>A	c.(454-456)CGG>CAG	p.R152Q	RSRC2_uc001uco.2_5'UTR|RSRC2_uc001ucp.2_Missense_Mutation_p.R93Q|RSRC2_uc001ucq.2_5'UTR|RSRC2_uc001ucs.2_5'UTR|RSRC2_uc001uct.2_Missense_Mutation_p.R104Q|RSRC2_uc001ucu.2_Missense_Mutation_p.R152Q	NM_023012	NP_075388	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2 isoform a	152	Ser-rich.									ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		CGATTTCTTCCGCTCCCTACT	0.463												
DNAH10	196385	broad.mit.edu	37	12	124258738	124258738	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:124258738T>G	uc001uft.3	+	5	390	c.365T>G	c.(364-366)ATT>AGT	p.I122S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	122	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTATGGAAATTATGCCAGAA	0.393												
DNAH10	196385	broad.mit.edu	37	12	124341746	124341746	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:124341746G>A	uc001uft.3	+	36	6253	c.6228G>A	c.(6226-6228)GCG>GCA	p.A2076A		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2076	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAACGATGCGGTAGAGCAGG	0.527												
FZD10	11211	broad.mit.edu	37	12	130648883	130648883	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:130648883C>T	uc001uii.2	+	1	1852	c.1396C>T	c.(1396-1398)CGC>TGC	p.R466C	uc001uig.1_5'Flank|uc001uih.1_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10 precursor	466	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			lung(3)|breast(1)|central_nervous_system(1)	5	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTTTTACGAACGCCTCAACAT	0.557												
MPHOSPH8	54737	broad.mit.edu	37	13	20221160	20221160	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:20221160G>A	uc001umh.2	+	3	956	c.947G>A	c.(946-948)AGT>AAT	p.S316N	MPHOSPH8_uc001umf.1_Missense_Mutation_p.S316N|MPHOSPH8_uc001umg.2_Missense_Mutation_p.S316N|MPHOSPH8_uc001umi.2_Missense_Mutation_p.S13N	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	316					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)		CCCCTAGACAGTGCCATGAGT	0.517												
XPO4	64328	broad.mit.edu	37	13	21396376	21396376	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:21396376C>T	uc001unq.3	-	8	929	c.893G>A	c.(892-894)TGC>TAC	p.C298Y		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	298					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CTGGGCAAGGCACTGCAGAGA	0.373												
PARP4	143	broad.mit.edu	37	13	25077812	25077812	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:25077812C>T	uc001upl.2	-	2	209	c.103G>A	c.(103-105)GGA>AGA	p.G35R	PARP4_uc010tdc.1_Missense_Mutation_p.G35R	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	35	BRCT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAAAACTTTCCGCCATTTTCC	0.383												
FAM123A	219287	broad.mit.edu	37	13	25745590	25745590	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:25745590G>A	uc001uqb.2	-	1	268	c.168C>T	c.(166-168)GCC>GCT	p.A56A	FAM123A_uc001uqa.2_Silent_p.A56A|FAM123A_uc001uqc.2_Silent_p.A56A	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	56	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACGGCGGCTCGGCGGCCGGCG	0.597												
MTUS2	23281	broad.mit.edu	37	13	29598991	29598991	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:29598991G>A	uc001usl.3	+	1	244	c.186G>A	c.(184-186)AAG>AAA	p.K62K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	hypothetical protein LOC23281 isoform a	52						cytoplasm|microtubule	microtubule binding|protein homodimerization activity				0						ACGAGTCCAAGACATGTGACC	0.418												
HSPH1	10808	broad.mit.edu	37	13	31719831	31719831	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:31719831T>C	uc001utj.2	-	11	1851	c.1453A>G	c.(1453-1455)AAC>GAC	p.N485D	HSPH1_uc001utk.2_Missense_Mutation_p.N485D|HSPH1_uc010aaw.2_Missense_Mutation_p.N444D|HSPH1_uc001utl.2_Missense_Mutation_p.N487D|HSPH1_uc010tds.1_Missense_Mutation_p.N409D	NM_006644	NP_006635	Q92598	HS105_HUMAN	heat shock 105kD	485					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding				0		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CCATGGGTGTTGACTCGCACT	0.418												
PDS5B	23047	broad.mit.edu	37	13	33258137	33258137	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:33258137A>T	uc010abf.2	+	11	1338	c.1180A>T	c.(1180-1182)AGA>TGA	p.R394*	PDS5B_uc001uuo.2_Nonsense_Mutation_p.R394*|PDS5B_uc010abg.2_RNA|PDS5B_uc010teb.1_Nonsense_Mutation_p.R96*	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	394	HEAT.			R -> G (in Ref. 2; AAD22134).	cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TAATTTTGTGAGAGAGAGAAC	0.269												
PDS5B	23047	broad.mit.edu	37	13	33344698	33344698	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:33344698G>T	uc010abf.2	+	32	4222	c.4064G>T	c.(4063-4065)AGA>ATA	p.R1355I	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1355					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCACAGCAGAGGTAAGCATGT	0.428												
SPG20	23111	broad.mit.edu	37	13	36905589	36905589	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:36905589C>A	uc001uvn.2	-	4	1225	c.955G>T	c.(955-957)GAT>TAT	p.D319Y	SPG20_uc010ten.1_Missense_Mutation_p.D319Y|SPG20_uc001uvm.2_Missense_Mutation_p.D319Y|SPG20_uc001uvo.2_Missense_Mutation_p.D319Y|SPG20_uc001uvq.2_Missense_Mutation_p.D319Y|SPG20_uc001uvp.2_Missense_Mutation_p.D319Y	NM_001142296	NP_001135768	Q8N0X7	SPG20_HUMAN	spartin	319					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)		AGCTCTCTATCATCCTCTGGT	0.448												
CCNA1	8900	broad.mit.edu	37	13	37012843	37012843	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:37012843C>T	uc001uvr.3	+	5	1082	c.732C>T	c.(730-732)CGC>CGT	p.R244R	CCNA1_uc010teo.1_Silent_p.R200R|CCNA1_uc010abq.2_Silent_p.R200R|CCNA1_uc010abp.2_Silent_p.R200R|CCNA1_uc001uvs.3_Silent_p.R243R|CCNA1_uc010abr.2_Intron	NM_003914	NP_003905	P78396	CCNA1_HUMAN	cyclin A1 isoform a	244					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			lung(2)|skin(2)|ovary(1)	5		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;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AAGGCATGCGCACGATTCTGG	0.473												
FAM48A	55578	broad.mit.edu	37	13	37618213	37618213	+	Splice_Site	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:37618213A>G	uc001uwg.2	-	7	644	c.396_splice	c.e7+1	p.Q132_splice	FAM48A_uc010abt.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwh.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwi.2_Splice_Site_p.Q132_splice|FAM48A_uc001uwj.2_Splice_Site_p.Q133_splice|FAM48A_uc001uwk.2_Splice_Site_p.Q132_splice|FAM48A_uc010tes.1_Splice_Site_p.Q120_splice|FAM48A_uc001uwl.1_Splice_Site_p.Q132_splice	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A						autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		AAAATTTTGTACCTGAGATTT	0.249												
POSTN	10631	broad.mit.edu	37	13	38158194	38158194	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:38158194C>T	uc001uwo.3	-	9	1273	c.1155G>A	c.(1153-1155)ACG>ACA	p.T385T	POSTN_uc001uwp.3_Silent_p.T385T|POSTN_uc001uwr.2_Silent_p.T385T|POSTN_uc001uwq.2_Silent_p.T385T|POSTN_uc010teu.1_Silent_p.T385T|POSTN_uc010tev.1_Silent_p.T385T|POSTN_uc010tew.1_Silent_p.T385T|POSTN_uc010tex.1_Silent_p.T300T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	385	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CCACAAGATCCGTGAAGGTGG	0.438												
FREM2	341640	broad.mit.edu	37	13	39263555	39263555	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:39263555C>T	uc001uwv.2	+	1	2383	c.2074C>T	c.(2074-2076)CGT>TGT	p.R692C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	692	CSPG 4.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTTTGTGATTCGTATCCATCC	0.562												
WBP4	11193	broad.mit.edu	37	13	41650292	41650292	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:41650292G>A	uc001uxt.2	+	8	788	c.675G>A	c.(673-675)TCG>TCA	p.S225S	WBP4_uc010tfd.1_Silent_p.S204S	NM_007187	NP_009118	O75554	WBP4_HUMAN	WW domain-containing binding protein 4	225					nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|kidney(1)	3		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CATCAGATTCGCATAGTGATT	0.388												
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:41705321G>A	uc001uxu.1	-	1	1616	c.1327C>T	c.(1327-1329)CGA>TGA	p.R443*	KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Nonsense_Mutation_p.R377*|uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain-containing 6	443	Kelch 2.						protein binding			ovary(1)|skin(1)	2		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAA	0.473												
KIAA0564	23078	broad.mit.edu	37	13	42303703	42303703	+	Silent	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:42303703T>A	uc001uyj.2	-	23	2683	c.2613A>T	c.(2611-2613)CTA>CTT	p.L871L	KIAA0564_uc001uyk.2_Silent_p.L871L	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	hypothetical protein LOC23078 isoform a	871						extracellular region	ATP binding|ATPase activity			ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTCCATCTGCTAGAATCATTT	0.333												
DGKH	160851	broad.mit.edu	37	13	42793377	42793377	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:42793377G>A	uc001uyl.1	+	27	3246	c.3225G>A	c.(3223-3225)TCG>TCA	p.S1075S	DGKH_uc010tfh.1_Silent_p.S1075S|DGKH_uc001uym.1_Silent_p.S1075S|DGKH_uc010tfi.1_Silent_p.S830S|DGKH_uc010tfj.1_Silent_p.S930S|DGKH_uc001uyn.1_RNA|DGKH_uc001uyo.1_Silent_p.S930S|DGKH_uc001uyp.2_RNA	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta isoform 2	1075					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(2)	2		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AGCTGGAATCGCCACATGAAG	0.408												
PIBF1	10464	broad.mit.edu	37	13	73369613	73369613	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:73369613G>A	uc001vjc.2	+	4	775	c.470G>A	c.(469-471)CGT>CAT	p.R157H	PIBF1_uc001vja.1_Missense_Mutation_p.R157H|PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.R157H|PIBF1_uc010aep.2_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	progesterone-induced blocking factor 1	157						centrosome				ovary(1)|breast(1)	2		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGAAACCTGCGTGACTTTGAG	0.338												
GPC5	2262	broad.mit.edu	37	13	92345711	92345711	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:92345711G>A	uc010tif.1	+	3	962	c.596G>A	c.(595-597)CGG>CAG	p.R199Q		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	199						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)				ATGGCTCGCCGGGATGTGAGT	0.512												
IPO5	3843	broad.mit.edu	37	13	98642694	98642694	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:98642694C>T	uc001vnf.1	+	6	637	c.572C>T	c.(571-573)ACG>ATG	p.T191M	IPO5_uc001vne.2_Missense_Mutation_p.T209M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.T131M	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	191					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)|skin(1)	3						TAGATCAGGACGTTATCTGCT	0.343												
TPP2	7174	broad.mit.edu	37	13	103281921	103281921	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:103281921C>T	uc001vpi.3	+	9	1209	c.1106C>T	c.(1105-1107)ACA>ATA	p.T369I		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	369					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)					TGCCTGTCTACAGTTGGTTGT	0.328												
DAOA	267012	broad.mit.edu	37	13	106142341	106142341	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:106142341C>T	uc001vqb.2	+	4	647	c.373C>T	c.(373-375)CCT>TCT	p.P125S	DAOA_uc010tjf.1_Missense_Mutation_p.P54S|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.P97S|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA	NM_172370	NP_758958	P59103	DAOA_HUMAN	D-amino acid oxidase activator isoform 1	125						Golgi apparatus					0	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ccgcaggcagcctctagaacg	0												
ATP11A	23250	broad.mit.edu	37	13	113478731	113478731	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:113478731C>T	uc001vsi.3	+	10	952	c.864C>T	c.(862-864)GCC>GCT	p.A288A	ATP11A_uc001vsj.3_Silent_p.A288A|ATP11A_uc001vsm.1_Silent_p.A164A	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	288	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AGCGATCTGCCGTGGAAAAGT	0.448												
TFDP1	7027	broad.mit.edu	37	13	114265347	114265347	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:114265347T>A	uc001vtw.2	+	3	261	c.49T>A	c.(49-51)TTC>ATC	p.F17I	TFDP1_uc010tkd.1_5'UTR|TFDP1_uc010tke.1_5'UTR|TFDP1_uc001vty.3_Missense_Mutation_p.F17I|TFDP1_uc010agx.2_Missense_Mutation_p.F17I	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	transcription factor Dp-1	17					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			ACTCAAGGTCTTCATAGACCA	0.448										TSP Lung(29;0.18)		
OR4Q3	441669	broad.mit.edu	37	14	20216515	20216515	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:20216515C>G	uc010tkt.1	+	1	929	c.929C>G	c.(928-930)CCA>CGA	p.P310R		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	310	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCATTCCATTGCCTTGT	0.393												
TEP1	7011	broad.mit.edu	37	14	20871938	20871938	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:20871938A>G	uc001vxe.2	-	6	1178	c.1138T>C	c.(1138-1140)TAC>CAC	p.Y380H	TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	380	TROVE.				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)		CGAGGGTTGTACTTAGCCAGC	0.622												
AP1G2	8906	broad.mit.edu	37	14	24033782	24033782	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:24033782C>T	uc001wkl.2	-	9	1247	c.910G>A	c.(910-912)GCT>ACT	p.A304T	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.A232T|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_Intron|AP1G2_uc001wkp.1_RNA|AP1G2_uc010tnp.1_Missense_Mutation_p.A304T	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	304					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGTAGGCCAGCTGCAGAGCGG	0.592												
TM9SF1	10548	broad.mit.edu	37	14	24664214	24664214	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:24664214T>C	uc001wnb.1	-	2	360	c.12A>G	c.(10-12)GTA>GTG	p.V4V	TM9SF1_uc010toa.1_Intron|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Silent_p.V239V|TM9SF1_uc001wnc.2_Silent_p.V4V|TM9SF1_uc001wnd.2_5'Flank	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	4					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		GAGGGTTCCCTACGACTGTCA	0.557												
NOVA1	4857	broad.mit.edu	37	14	27064621	27064621	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:27064621T>C	uc001wpy.2	-	2	593	c.275A>G	c.(274-276)TAC>TGC	p.Y92C	NOVA1_uc001wpz.2_Missense_Mutation_p.Y92C|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Missense_Mutation_p.Y92C	NM_002515	NP_002506	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1 isoform 1	95	KH 1.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5				GBM - Glioblastoma multiforme(265;0.0135)		CCTACCTGGGTAAAAATCTTT	0.408												
ARHGAP5	394	broad.mit.edu	37	14	32561281	32561281	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:32561281C>T	uc001wrl.2	+	2	1645	c.1406C>T	c.(1405-1407)GCT>GTT	p.A469V	ARHGAP5_uc001wrm.2_Missense_Mutation_p.A469V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.A469V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	469	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCACTGAGGCTGATAGCAAA	0.373												
ARHGAP5	394	broad.mit.edu	37	14	32623920	32623920	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:32623920A>G	uc001wrl.2	+	7	4514	c.4275A>G	c.(4273-4275)CGA>CGG	p.R1425R	ARHGAP5_uc001wrm.2_Silent_p.R1424R|ARHGAP5_uc001wrn.2_Silent_p.R1425R|ARHGAP5_uc001wro.2_Silent_p.R164R|ARHGAP5_uc001wrp.2_Silent_p.R160R	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5 isoform b	1425	Rho-GAP.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			ovary(4)|central_nervous_system(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTGAAAATCGAGAGTTTCTGT	0.353												
PAX9	5083	broad.mit.edu	37	14	37145642	37145642	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:37145642G>A	uc001wty.3	+	5	1728	c.1011G>A	c.(1009-1011)ACG>ACA	p.T337T	PAX9_uc010amq.2_RNA	NM_006194	NP_006185	P55771	PAX9_HUMAN	paired box 9	337					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		ATTCTGTCACGGCTTCCGCGC	0.592												
PNN	5411	broad.mit.edu	37	14	39650999	39650999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:39650999C>T	uc001wuw.3	+	9	2183	c.2086C>T	c.(2086-2088)CGA>TGA	p.R696*		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	696	Ser-rich.|Arg-rich.|Necessary for interaction with PPIG.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGAGAGTAGTCGATCAGGCAA	0.403												
FAM179B	23116	broad.mit.edu	37	14	45432443	45432443	+	Silent	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:45432443T>G	uc001wvv.2	+	1	1028	c.819T>G	c.(817-819)TCT>TCG	p.S273S	FAM179B_uc001wvw.2_Silent_p.S273S|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.S273S|FAM179B_uc001wvu.2_Silent_p.S273S	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	273							binding			skin(2)|upper_aerodigestive_tract(1)	3						AAGAAGAATCTGAGACAGCTT	0.488												
FKBP3	2287	broad.mit.edu	37	14	45599948	45599948	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:45599948T>G	uc010tqf.1	-	2	237	c.164A>C	c.(163-165)AAC>ACC	p.N55T		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	55					protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity				0						GTGGTCCTTGTTAGCTGTCTT	0.338												
NID2	22795	broad.mit.edu	37	14	52520915	52520915	+	Missense_Mutation	SNP	G	G	A	rs147980330		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:52520915G>A	uc001wzo.2	-	4	1126	c.892C>T	c.(892-894)CGT>TGT	p.R298C	NID2_uc010tqs.1_Missense_Mutation_p.R298C|NID2_uc010tqt.1_Missense_Mutation_p.R298C|NID2_uc001wzp.2_Missense_Mutation_p.R298C	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	298						basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGAAGGAACGTCCCAGGGGA	0.517												
PELI2	57161	broad.mit.edu	37	14	56757145	56757145	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:56757145A>G	uc001xch.2	+	5	953	c.667A>G	c.(667-669)ACC>GCC	p.T223A		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	223					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1						CTTGCGAGAAACCAGGTCGGC	0.562												
GPR135	64582	broad.mit.edu	37	14	59930803	59930803	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:59930803G>A	uc010apj.2	-	1	1257	c.1142C>T	c.(1141-1143)GCC>GTC	p.A381V	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	381	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)		AGGGTTGATGGCCCCATTGGC	0.652												
RTN1	6252	broad.mit.edu	37	14	60074086	60074086	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:60074086G>A	uc001xen.1	-	4	2099	c.1890C>T	c.(1888-1890)GCC>GCT	p.A630A	RTN1_uc001xem.1_Silent_p.A210A|RTN1_uc001xek.1_Silent_p.A62A|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.A47A	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	630	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAGAGTGCGGCCAGGGCCA	0.562												
SIX6	4990	broad.mit.edu	37	14	60976498	60976498	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:60976498G>A	uc001xfa.3	+	1	561	c.382G>A	c.(382-384)GGC>AGC	p.G128S		NM_007374	NP_031400	O95475	SIX6_HUMAN	SIX homeobox 6	128	Homeobox.				organ morphogenesis|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.088)		CATTTGGGACGGCGAACAGAA	0.582												
KCNH5	27133	broad.mit.edu	37	14	63417018	63417018	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:63417018C>T	uc001xfx.2	-	7	1253	c.1202G>A	c.(1201-1203)CGC>CAC	p.R401H	KCNH5_uc001xfy.2_Missense_Mutation_p.R401H|KCNH5_uc001xfz.1_Missense_Mutation_p.R343H|KCNH5_uc001xga.2_Missense_Mutation_p.R343H	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	401	Extracellular (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGTATTGTAGCGATATGGAGT	0.468												
SYNE2	23224	broad.mit.edu	37	14	64518919	64518919	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:64518919C>T	uc001xgm.2	+	48	8518	c.8288C>T	c.(8287-8289)TCA>TTA	p.S2763L	SYNE2_uc001xgl.2_Missense_Mutation_p.S2763L	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2763	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACATTCTTTCACAGATCAGA	0.438												
PLEKHG3	26030	broad.mit.edu	37	14	65208660	65208660	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:65208660C>T	uc001xho.1	+	16	2694	c.2425C>T	c.(2425-2427)CGC>TGC	p.R809C	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R753C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.R930C|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R351C|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R314C	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	809					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TGCTGAGTTCCGCCCATCTTC	0.617												
TMEM90A	646658	broad.mit.edu	37	14	74874351	74874351	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:74874351T>C	uc001xpx.2	-	4	852	c.604A>G	c.(604-606)ACC>GCC	p.T202A		NM_001105579	NP_001099049	A6NDD5	SYN1L_HUMAN	transmembrane protein 90A	202					response to biotic stimulus	Golgi apparatus|integral to membrane					0				BRCA - Breast invasive adenocarcinoma(234;0.00159)		CGGCGGGAGGTGGTGCTGGCC	0.632												
C14orf145	145508	broad.mit.edu	37	14	81251580	81251580	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:81251580C>T	uc001xux.2	-	14	2041	c.1870G>A	c.(1870-1872)GCC>ACC	p.A624T	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	624	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		TTGTCCTGGGCCTGGCTCTTC	0.463												
ZC3H14	79882	broad.mit.edu	37	14	89073629	89073629	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:89073629T>A	uc001xww.2	+	13	2015	c.1790T>A	c.(1789-1791)CTT>CAT	p.L597H	ZC3H14_uc010twd.1_Missense_Mutation_p.L597H|ZC3H14_uc010twe.1_Missense_Mutation_p.L592H|ZC3H14_uc001xwx.2_Missense_Mutation_p.L441H|ZC3H14_uc010twf.1_Missense_Mutation_p.L311H|ZC3H14_uc001xwy.2_Missense_Mutation_p.L432H|ZC3H14_uc010twg.1_Missense_Mutation_p.L286H|ZC3H14_uc001xxa.2_Missense_Mutation_p.L142H|ZC3H14_uc001xxc.2_Missense_Mutation_p.L141H|ZC3H14_uc001xxb.2_Missense_Mutation_p.L168H	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14 isoform 1	597	C3H1-type 1.					cytoplasm|cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			ovary(2)|skin(1)	3						CCAGAAAAACTTTTGGAGCGC	0.453												
CCDC88C	440193	broad.mit.edu	37	14	91773527	91773527	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:91773527C>T	uc010aty.2	-	18	3149	c.3050G>A	c.(3049-3051)GGG>GAG	p.G1017E		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	1017	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)				CAAGTGCTGCCCCTCTCCCTG	0.607												
SERPINA9	327657	broad.mit.edu	37	14	94936051	94936051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:94936051G>A	uc001ydf.2	-	2	342	c.181C>T	c.(181-183)CAG>TAG	p.Q61*	SERPINA9_uc001yde.2_Nonsense_Mutation_p.Q61*|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Nonsense_Mutation_p.Q61*|SERPINA9_uc001ydi.1_Intron	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	serine (or cysteine) proteinase inhibitor, clade	43					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			lung(1)|central_nervous_system(1)	2		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GAATACACCTGTGAGGCAGGG	0.577												
SERPINA12	145264	broad.mit.edu	37	14	94964289	94964289	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:94964289T>G	uc001ydj.2	-	3	1242	c.446A>C	c.(445-447)AAG>ACG	p.K149T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	serine (or cysteine) proteinase inhibitor, clade	149					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(2)|ovary(1)|lung(1)	4				COAD - Colon adenocarcinoma(157;0.235)		TTCCAAAAACTTACGCTGTGG	0.458												
SERPINA3	12	broad.mit.edu	37	14	95090098	95090098	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:95090098G>A	uc001ydp.2	+	5	1298	c.1219G>A	c.(1219-1221)GAC>AAC	p.D407N	SERPINA3_uc001ydo.3_Missense_Mutation_p.D432N|SERPINA3_uc001ydr.2_RNA|SERPINA3_uc001ydq.2_Missense_Mutation_p.D407N|SERPINA3_uc001yds.2_Missense_Mutation_p.D407N|SERPINA3_uc010avg.2_Missense_Mutation_p.D407N	NM_001085	NP_001076	P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A, member 3	407					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.D407N(1)		ovary(2)|central_nervous_system(2)|large_intestine(1)|skin(1)	6		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TGTCCCTACAGACACCCAGAA	0.493												
DICER1	23405	broad.mit.edu	37	14	95569719	95569719	+	Silent	SNP	C	C	T	rs143454689		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:95569719C>T	uc001ydw.2	-	22	4196	c.4014G>A	c.(4012-4014)GCG>GCA	p.A1338A	DICER1_uc010avh.1_Silent_p.A236A|DICER1_uc001ydv.2_Silent_p.A1328A|DICER1_uc001ydx.2_Silent_p.A1338A|DICER1_uc001ydy.1_Silent_p.A190A	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1338	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCCCTCATGCGCATCAGGGT	0.413			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
AHNAK2	113146	broad.mit.edu	37	14	105412736	105412736	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:105412736G>A	uc010axc.1	-	7	9172	c.9052C>T	c.(9052-9054)CAG>TAG	p.Q3018*	AHNAK2_uc001ypx.2_Nonsense_Mutation_p.Q2918*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3018						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGTCCCCCTGCATGGAGGGG	0.642												
BRF1	2972	broad.mit.edu	37	14	105677548	105677548	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:105677548T>C	uc001yqp.2	-	17	2270	c.1907A>G	c.(1906-1908)TAC>TGC	p.Y636C	BRF1_uc010tyo.1_Missense_Mutation_p.Y521C|BRF1_uc010typ.1_Missense_Mutation_p.Y543C|BRF1_uc001yqk.2_Missense_Mutation_p.Y162C|BRF1_uc001yql.2_Missense_Mutation_p.Y432C|BRF1_uc001yqo.2_Missense_Mutation_p.Y398C|BRF1_uc010axg.1_Missense_Mutation_p.Y609C|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR	NM_001519	NP_001510	Q92994	TF3B_HUMAN	transcription initiation factor IIIB isoform 1	636					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GTCGGCGTGGTATGACACGGG	0.687												
GABRG3	2567	broad.mit.edu	37	15	27772702	27772702	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:27772702C>T	uc001zbg.1	+	8	1155	c.989C>T	c.(988-990)GCG>GTG	p.A330V		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	330	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCTTCGCCGCGCTGATGGAG	0.547												
HERC2	8924	broad.mit.edu	37	15	28422236	28422236	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:28422236T>C	uc001zbj.2	-	61	9398	c.9292A>G	c.(9292-9294)ACC>GCC	p.T3098A		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3098	RCC1 8.				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)		ATACGCTTGGTTTTCAGGGCC	0.542												
RYR3	6263	broad.mit.edu	37	15	34130674	34130674	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34130674C>A	uc001zhi.2	+	89	12563	c.12493C>A	c.(12493-12495)CTC>ATC	p.L4165I	RYR3_uc010bar.2_Missense_Mutation_p.L4160I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	4165					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGAAGAACCTCAGGAAGCA	0.517												
PGBD4	161779	broad.mit.edu	37	15	34396075	34396075	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34396075A>G	uc001zho.2	+	1	1802	c.1343A>G	c.(1342-1344)CAC>CGC	p.H448R	C15orf24_uc001zhm.2_5'Flank|C15orf24_uc001zhn.2_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	448											0		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		CGCAAAAGACACAAGGTTTGG	0.423												
C15orf55	256646	broad.mit.edu	37	15	34646818	34646818	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34646818C>T	uc001zif.2	+	5	1318	c.1163C>T	c.(1162-1164)TCA>TTA	p.S388L	C15orf55_uc010ucc.1_Missense_Mutation_p.S416L|C15orf55_uc010ucd.1_Missense_Mutation_p.S406L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	388						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)		ACTGGGGAGTCAGATGGAAAA	0.537			T	BRD3|BRD4	lethal midline carcinoma							
LPCAT4	254531	broad.mit.edu	37	15	34654982	34654982	+	Splice_Site	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34654982C>T	uc001zig.2	-	8	895	c.801_splice	c.e8+1	p.E267_splice		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4						phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0						GGGAGCCATACCTCCACATCC	0.512												
GOLGA8A	23015	broad.mit.edu	37	15	34673666	34673666	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:34673666G>A	uc001zii.2	-	16	1867	c.1758C>T	c.(1756-1758)AGC>AGT	p.S586S	GOLGA8A_uc001zih.2_Silent_p.S442S|uc001zil.2_5'Flank	NM_181077	NP_851422	A7E2F4	GOG8A_HUMAN	golgi autoantigen, golgin subfamily a, 8A	614	Golgi-targeting domain (By similarity).					Golgi cisterna membrane					0		all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CACAGCAGTTGCTGCCCAAGC	0.532												
AQR	9716	broad.mit.edu	37	15	35163101	35163101	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:35163101A>G	uc001ziv.2	-	31	3801	c.3620T>C	c.(3619-3621)GTA>GCA	p.V1207A		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	1207						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTGCTACTACATATTCTGC	0.333												
AQR	9716	broad.mit.edu	37	15	35202476	35202476	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:35202476G>A	uc001ziv.2	-	17	1704	c.1523C>T	c.(1522-1524)GCG>GTG	p.A508V		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	508						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGCCATTCGCGCCCAACCACC	0.448												
EIF2AK4	440275	broad.mit.edu	37	15	40254062	40254062	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:40254062G>T	uc001zkm.1	+	7	871	c.821G>T	c.(820-822)AGT>ATT	p.S274I	EIF2AK4_uc001zkl.2_Missense_Mutation_p.S274I|EIF2AK4_uc010bbj.1_Missense_Mutation_p.S3I	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha	274					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			lung(2)|stomach(1)|skin(1)	4		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AATATGGGGAGTCCTGATCAG	0.338												
INO80	54617	broad.mit.edu	37	15	41379814	41379814	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:41379814G>A	uc001zni.2	-	6	817	c.604C>T	c.(604-606)CGG>TGG	p.R202W	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	202	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						AGTAGGTGCCGTTGTTGCTCA	0.428												
FRMD5	84978	broad.mit.edu	37	15	44175946	44175946	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:44175946C>T	uc001ztl.2	-	13	1267	c.1090G>A	c.(1090-1092)GTC>ATC	p.V364I	FRMD5_uc001ztj.1_Missense_Mutation_p.V37I|FRMD5_uc001ztk.1_Missense_Mutation_p.V270I|FRMD5_uc010uef.1_Missense_Mutation_p.V37I|FRMD5_uc001ztm.2_Missense_Mutation_p.V37I|FRMD5_uc001ztn.2_Missense_Mutation_p.V130I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5 isoform 2	364						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GTCCTGGGGACGCTGCTCAGC	0.537												
CYP19A1	1588	broad.mit.edu	37	15	51514600	51514600	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:51514600G>A	uc001zyz.3	-	6	825	c.574C>T	c.(574-576)CGT>TGT	p.R192C	CYP19A1_uc001zza.3_Missense_Mutation_p.R192C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R192C|CYP19A1_uc001zzd.2_Missense_Mutation_p.R192C|CYP19A1_uc010bey.1_Missense_Mutation_p.R192C	NM_031226	NP_112503	P11511	CP19A_HUMAN	cytochrome P450, family 19	192					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			skin(3)	3				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ATGACACGACGCAGAAGGGTC	0.493												
KIAA1370	56204	broad.mit.edu	37	15	52877031	52877031	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:52877031T>C	uc002acg.3	-	12	3141	c.2988A>G	c.(2986-2988)GTA>GTG	p.V996V	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.V908V|KIAA1370_uc002acf.3_Silent_p.V26V|KIAA1370_uc010ugf.1_Silent_p.V1003V	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	996											0				all cancers(107;0.0803)		GTTTAACAGGTACAGAAAAAG	0.373												
CCPG1	9236	broad.mit.edu	37	15	55652559	55652559	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:55652559C>T	uc002acv.1	-	8	1577	c.1412G>A	c.(1411-1413)GGC>GAC	p.G471D	CCPG1_uc002acy.2_Missense_Mutation_p.G471D|CCPG1_uc002acu.1_Missense_Mutation_p.G327D|CCPG1_uc002acw.1_Missense_Mutation_p.G196D|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Missense_Mutation_p.G471D|CCPG1_uc002acz.1_Missense_Mutation_p.G471D	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2	471	Lumenal (Potential).				cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		GCTTCCTCTGCCCCCTTTCTT	0.393												
PRTG	283659	broad.mit.edu	37	15	55912260	55912260	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:55912260C>T	uc002adg.2	-	20	3451	c.3403G>A	c.(3403-3405)GAT>AAT	p.D1135N		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	protogenin precursor	1135					multicellular organismal development	integral to membrane				large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGTATCTCATCGTTGGACTCA	0.483												
TLN2	83660	broad.mit.edu	37	15	62950012	62950012	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:62950012G>A	uc002alb.3	+	6	703	c.703G>A	c.(703-705)GAG>AAG	p.E235K		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	235	FERM.				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						TGTCTCCTTCGAGAAAGCTTG	0.458												
FEM1B	10116	broad.mit.edu	37	15	68582325	68582325	+	Missense_Mutation	SNP	G	G	A	rs142755987	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:68582325G>A	uc002arg.2	+	2	1244	c.629G>A	c.(628-630)CGT>CAT	p.R210H	FEM1B_uc002arh.2_Missense_Mutation_p.R130H	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	fem-1 homolog b	210	ANK 5.				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity				0						ATAAAATGGCGTGCTGCTATA	0.473												
GRAMD2	196996	broad.mit.edu	37	15	72456008	72456008	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:72456008A>G	uc002atq.2	-	9	715	c.691T>C	c.(691-693)TCA>CCA	p.S231P	GRAMD2_uc010bis.2_Missense_Mutation_p.S231P|GRAMD2_uc010ukh.1_Missense_Mutation_p.S25P	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	231						integral to membrane					0						TCCACGGATGATGGAGGGATA	0.537												
ISLR2	57611	broad.mit.edu	37	15	74425657	74425657	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:74425657G>A	uc002axd.2	+	4	1331	c.562G>A	c.(562-564)GGC>AGC	p.G188S	ISLR2_uc002axe.2_Missense_Mutation_p.G188S|ISLR2_uc010bjg.2_Missense_Mutation_p.G188S|ISLR2_uc010bjf.2_Missense_Mutation_p.G188S	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	188	Extracellular (Potential).|LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0						CTGCGGCTGCGGCCTTGTGTG	0.667												
CYP1A1	1543	broad.mit.edu	37	15	75012940	75012940	+	Missense_Mutation	SNP	G	G	A	rs56240201	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:75012940G>A	uc002ayp.3	-	7	1551	c.1429C>T	c.(1429-1431)CGG>TGG	p.R477W	CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_Missense_Mutation_p.R213W|CYP1A1_uc010bjx.2_Missense_Mutation_p.R213W|CYP1A1_uc002ayq.3_Missense_Mutation_p.R477W|CYP1A1_uc010bjy.2_Missense_Mutation_p.R448W	NM_000499	NP_000490	P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A,	477					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.R477W(1)		ovary(2)|breast(2)|pancreas(1)	5					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AATTCCACCCGTTGCAGCAGG	0.542									Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia			
PTPN9	5780	broad.mit.edu	37	15	75772249	75772249	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:75772249A>G	uc002bal.2	-	9	1577	c.1069T>C	c.(1069-1071)TAC>CAC	p.Y357H		NM_002833	NP_002824	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type	357	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			lung(1)|skin(1)	2						GCATTGATGTAATCTGTCTAA	0.408												
LINGO1	84894	broad.mit.edu	37	15	77906539	77906539	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:77906539G>A	uc002bct.1	-	2	1762	c.1710C>T	c.(1708-1710)GGC>GGT	p.G570G	LINGO1_uc002bcu.1_Silent_p.G564G	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	570	Helical; (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2						AGAGGACGACGCCCAGGAAAG	0.597												
CHRNB4	1143	broad.mit.edu	37	15	78921959	78921959	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:78921959G>A	uc002bed.1	-	5	800	c.688C>T	c.(688-690)CGC>TGC	p.R230C	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.R48C	NM_000750	NP_000741	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4	230	Extracellular (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						AGAGGCTTGCGCTTGATGATG	0.572												
TMC3	342125	broad.mit.edu	37	15	81636296	81636296	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:81636296A>G	uc002bgo.1	-	14	1609	c.1609T>C	c.(1609-1611)TTA>CTA	p.L537L	TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Silent_p.L537L	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	537	Extracellular (Potential).					integral to membrane				ovary(1)|liver(1)	2						TAGTCACTTAAGTACCGCACG	0.448												
EFTUD1	79631	broad.mit.edu	37	15	82444608	82444608	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:82444608A>G	uc002bgt.1	-	18	2356	c.2187T>C	c.(2185-2187)CCT>CCC	p.P729P	EFTUD1_uc002bgs.1_Silent_p.P100P|EFTUD1_uc002bgu.1_Silent_p.P678P	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	729					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1						GGATTCCTTCAGGGATTTTGC	0.433												
ZSCAN2	54993	broad.mit.edu	37	15	85163909	85163909	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:85163909G>A	uc002bkr.2	+	3	709	c.483G>A	c.(481-483)TCG>TCA	p.S161S	ZSCAN2_uc010bmz.1_Silent_p.S159S|ZSCAN2_uc010bna.2_Silent_p.S11S|ZSCAN2_uc010uox.1_Silent_p.S160S|ZSCAN2_uc010uoy.1_Silent_p.S160S|ZSCAN2_uc010uoz.1_Silent_p.S160S	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	161					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)		AGATATTCTCGGAAATGCCTG	0.448												
SLC28A1	9154	broad.mit.edu	37	15	85487996	85487996	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:85487996A>G	uc002blg.2	+	18	1974	c.1772A>G	c.(1771-1773)TAC>TGC	p.Y591C	SLC28A1_uc010bnb.2_Missense_Mutation_p.Y591C|SLC28A1_uc010upe.1_Missense_Mutation_p.Y425C|SLC28A1_uc010upf.1_Missense_Mutation_p.Y591C|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	solute carrier family 28, member 1 isoform 1	591	Helical; (Potential).				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGATCCTCTACATGCCCAGG	0.602												
NTRK3	4916	broad.mit.edu	37	15	88679207	88679207	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:88679207T>C	uc002bme.1	-	8	992	c.830A>G	c.(829-831)GAC>GGC	p.D277G	NTRK3_uc002bmh.2_Missense_Mutation_p.D277G|NTRK3_uc002bmf.1_Missense_Mutation_p.D277G|NTRK3_uc010upl.1_Missense_Mutation_p.D179G|NTRK3_uc010bnh.1_Missense_Mutation_p.D277G|NTRK3_uc002bmg.2_Missense_Mutation_p.D277G	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	277	Ig-like C2-type 1.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(234)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAAGCCATTGTCCTCACTCGT	0.478			T	ETV6	congenital fibrosarcoma|Secretory breast 					TSP Lung(13;0.10)		
WDR93	56964	broad.mit.edu	37	15	90286554	90286554	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:90286554G>A	uc002boj.2	+	17	2094	c.1993G>A	c.(1993-1995)GAG>AAG	p.E665K	WDR93_uc010bnr.2_Missense_Mutation_p.E637K|WDR93_uc010upz.1_Missense_Mutation_p.E382K	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	665					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCAGAGAAGGAGGAGGAGCA	0.587												
ASB7	140460	broad.mit.edu	37	15	101188577	101188577	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:101188577T>C	uc002bwk.2	+	6	1636	c.867T>C	c.(865-867)TGT>TGC	p.C289C		NM_198243	NP_937886	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box-containing protein 7	289	SOCS box.				intracellular signal transduction					skin(1)	1	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TTCGACAATGTATAGGCCTTC	0.358												
RHBDF1	64285	broad.mit.edu	37	16	108543	108543	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:108543G>T	uc002cfl.3	-	21	2512	c.2364C>A	c.(2362-2364)CCC>CCA	p.P788P		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	rhomboid family 1	788	Helical; (Potential).				cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			ovary(1)|pancreas(1)	2		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCTGATGTAGGGCAAGAAGG	0.557												
NHLRC4	283948	broad.mit.edu	37	16	618400	618400	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:618400G>A	uc002chl.2	+	2	949	c.353G>A	c.(352-354)GGC>GAC	p.G118D	PIGQ_uc010bqw.2_Intron|PIGQ_uc002chm.2_5'Flank|PIGQ_uc002chn.2_5'Flank|PIGQ_uc002cho.2_5'Flank	NM_176677	NP_788850	P0CG21	NHLC4_HUMAN	hypothetical protein LOC283948	118	NHL 2.										0						GTGTACCAGGGCCTCAAGGAG	0.662												
WDR24	84219	broad.mit.edu	37	16	739536	739536	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:739536G>A	uc002ciz.1	-	1	865	c.105C>T	c.(103-105)TGC>TGT	p.C35C		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	97										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)				CTGCGTCGCGGCACACACTGA	0.617												
MAPK8IP3	23162	broad.mit.edu	37	16	1817232	1817232	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:1817232C>T	uc002cmk.2	+	26	3288	c.3168C>T	c.(3166-3168)TAC>TAT	p.Y1056Y	MAPK8IP3_uc002cml.2_Silent_p.Y1050Y|MAPK8IP3_uc010uvl.1_Silent_p.Y1057Y	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting	1056					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			breast(2)|central_nervous_system(1)	3						CTGTTGTGTACGACCGCGTGT	0.627												
SPSB3	90864	broad.mit.edu	37	16	1827807	1827807	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:1827807C>T	uc002cmr.2	-	5	695	c.662G>A	c.(661-663)GGC>GAC	p.G221D	SPSB3_uc002cms.2_Missense_Mutation_p.G93D|SPSB3_uc002cmt.2_Missense_Mutation_p.G93D|SPSB3_uc002cmu.2_Missense_Mutation_p.G221D|SPSB3_uc002cmv.2_Missense_Mutation_p.G93D	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	221	B30.2/SPRY.				intracellular signal transduction						0						CAGGTGCACGCCAATGATGGA	0.617												
NLRC3	197358	broad.mit.edu	37	16	3591887	3591887	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:3591887C>T	uc010btn.2	-	21	3547	c.3136G>A	c.(3136-3138)GGG>AGG	p.G1046R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	NOD3 protein	1046	LRR 16.				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						ATCCTGGCCCCGGAGTCCCCA	0.522												
BTBD12	84464	broad.mit.edu	37	16	3656500	3656500	+	Silent	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:3656500A>C	uc002cvp.2	-	3	1362	c.735T>G	c.(733-735)CCT>CCG	p.P245P	BTBD12_uc002cvq.1_Silent_p.P245P	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	245	Interaction with C20orf94, ERCC4 and MSH2.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0						TCTCCTCTTGAGGATCCTTTG	0.512								Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia			
CREBBP	1387	broad.mit.edu	37	16	3790455	3790455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:3790455G>A	uc002cvv.2	-	24	4282	c.4078C>T	c.(4078-4080)CGA>TGA	p.R1360*	CREBBP_uc002cvw.2_Nonsense_Mutation_p.R1322*	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	1360	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1360*(1)		haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCCACCACTCGGACAAAAACC	0.582			T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome			
TXNDC11	51061	broad.mit.edu	37	16	11785695	11785695	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:11785695C>T	uc010buu.1	-	9	1494	c.1432G>A	c.(1432-1434)GGG>AGG	p.G478R	TXNDC11_uc002dbg.1_Missense_Mutation_p.G451R	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	478					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane					0						TTCATGCCCCCGGAGGTCTGG	0.562												
MKL2	57496	broad.mit.edu	37	16	14340951	14340951	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:14340951C>T	uc010uza.1	+	12	1989	c.1834C>T	c.(1834-1836)CGG>TGG	p.R612W	MKL2_uc002dcg.2_Missense_Mutation_p.R612W|MKL2_uc002dcj.2_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	601	Potential.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5						GCAGCAGCAGCGGCCCCTGGA	0.547												
PLA2G10	8399	broad.mit.edu	37	16	14766560	14766560	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:14766560C>A	uc002dcq.2	-	4	842	c.402G>T	c.(400-402)CAG>CAT	p.Q134H		NM_003561	NP_003552	O15496	PA2GX_HUMAN	phospholipase A2, group X precursor	134					arachidonic acid metabolic process|axon guidance|cholesterol homeostasis|lipid catabolic process|lysophospholipid transport|negative regulation of cholesterol efflux|negative regulation of sequence-specific DNA binding transcription factor activity|phospholipid metabolic process|positive regulation of arachidonic acid secretion|positive regulation of cellular protein metabolic process|positive regulation of lipid storage|positive regulation of prostaglandin secretion|regulation of macrophage activation	extracellular region	calcium ion binding|phospholipase A2 activity				0						TAGCAATCTCCTGGTCACACT	0.507												
NOMO1	23420	broad.mit.edu	37	16	14958558	14958558	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:14958558A>G	uc002dcv.2	+	13	1578	c.1512A>G	c.(1510-1512)TCA>TCG	p.S504S		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	504	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1						TCTTGGCATCAGTTTCTGGGA	0.458												
KIAA0430	9665	broad.mit.edu	37	16	15704907	15704907	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:15704907C>T	uc002ddr.2	-	19	3869	c.3676G>A	c.(3676-3678)GTA>ATA	p.V1226I	KIAA0430_uc002ddq.2_Missense_Mutation_p.V1060I|KIAA0430_uc010uzv.1_Missense_Mutation_p.V1222I|KIAA0430_uc010uzw.1_Missense_Mutation_p.V1225I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1225						peroxisome	nucleotide binding|RNA binding				0						ATCTCTGATACGATGTCAATC	0.403												
SCNN1G	6340	broad.mit.edu	37	16	23200704	23200704	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:23200704T>C	uc002dlm.1	+	3	469	c.330T>C	c.(328-330)GTT>GTC	p.V110V		NM_001039	NP_001030	P51170	SCNNG_HUMAN	sodium channel, nonvoltage-gated 1, gamma	110	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ACAGCACCGTTCGCCACCTTC	0.607												
RBBP6	5930	broad.mit.edu	37	16	24580751	24580751	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:24580751A>G	uc002dmh.2	+	17	3780	c.2740A>G	c.(2740-2742)ACA>GCA	p.T914A	RBBP6_uc010vcb.1_Missense_Mutation_p.T781A|RBBP6_uc002dmi.2_Missense_Mutation_p.T880A|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.T747A	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	retinoblastoma-binding protein 6 isoform 1	914					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|pancreas(1)	4				GBM - Glioblastoma multiforme(48;0.0518)		GAAGGATAATACAAAGTCAAA	0.403												
ZNF48	197407	broad.mit.edu	37	16	30409177	30409177	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:30409177G>A	uc002dya.1	+	2	665	c.606G>A	c.(604-606)CGG>CGA	p.R202R	ZNF48_uc002dxz.1_Silent_p.R79R	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	202	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGAGCTTCCGGCAGAGTTCTG	0.612												
PRSS36	146547	broad.mit.edu	37	16	31161349	31161349	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:31161349C>A	uc002ebd.2	-	1	67	c.8G>T	c.(7-9)CGG>CTG	p.R3L	PRSS36_uc010vff.1_5'Flank|PRSS36_uc010vfg.1_Missense_Mutation_p.R3L|PRSS36_uc010vfh.1_Missense_Mutation_p.R3L	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	3					proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						GAGCAGGTGCCGGGCCATGGC	0.642												
ABCC11	85320	broad.mit.edu	37	16	48227793	48227793	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:48227793C>T	uc002eff.1	-	18	2855	c.2505G>A	c.(2503-2505)TCG>TCA	p.S835S	ABCC11_uc002efg.1_Silent_p.S835S|ABCC11_uc002efh.1_Silent_p.S835S|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	835	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.S835S(1)		ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CACTCACCCCCGAGCCCTGCT	0.522									Cerumen_Type			
TOX3	27324	broad.mit.edu	37	16	52484318	52484318	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:52484318G>A	uc002egw.2	-	4	720	c.549C>T	c.(547-549)AGC>AGT	p.S183S	TOX3_uc010vgt.1_Silent_p.S178S|TOX3_uc010vgu.1_Silent_p.S183S	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	183					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity				0						CCAACTGGGCGCTGAGCTGAG	0.587												
RPGRIP1L	23322	broad.mit.edu	37	16	53682876	53682876	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:53682876C>T	uc002ehp.2	-	16	2368	c.2304G>A	c.(2302-2304)TCG>TCA	p.S768S	RPGRIP1L_uc002eho.3_Silent_p.S768S|RPGRIP1L_uc010vgy.1_Silent_p.S768S|RPGRIP1L_uc010cbx.2_Silent_p.S768S|RPGRIP1L_uc010vgz.1_Silent_p.S768S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	768					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				ATGAGCTTACCGACTGCATAT	0.353												
MMP2	4313	broad.mit.edu	37	16	55513508	55513508	+	Silent	SNP	C	C	T	rs139082366		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:55513508C>T	uc002ehz.3	+	1	428	c.117C>T	c.(115-117)GGC>GGT	p.G39G	MMP2_uc010vhd.1_5'Flank|MMP2_uc010ccc.2_5'Flank	NM_004530	NP_004521	P08253	MMP2_HUMAN	matrix metalloproteinase 2 isoform a	39					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)	AGTTCCCCGGCGATGTCGCCC	0.662												
CES7	221223	broad.mit.edu	37	16	55880490	55880490	+	Missense_Mutation	SNP	G	G	A	rs142487845	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:55880490G>A	uc002eip.2	-	13	1750	c.1601C>T	c.(1600-1602)CCG>CTG	p.P534L	CES7_uc002eio.2_Missense_Mutation_p.P484L|CES7_uc002eiq.2_Missense_Mutation_p.P295L|CES7_uc002eir.2_Missense_Mutation_p.P428L	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	534						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)		ATCCACCCGCGGTTCTTTGAG	0.532												
NLRC5	84166	broad.mit.edu	37	16	57054633	57054633	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:57054633C>A	uc002ekk.1	+	3	234	c.9C>A	c.(7-9)CCC>CCA	p.P3P	NLRC5_uc010ccq.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	3					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)				TCATGGACCCCGTTGGCCTCC	0.458												
DOK4	55715	broad.mit.edu	37	16	57507884	57507884	+	Missense_Mutation	SNP	C	C	T	rs146675149		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:57507884C>T	uc010cdb.2	-	6	965	c.667G>A	c.(667-669)GTC>ATC	p.V223I	DOK4_uc002elu.1_Missense_Mutation_p.V223I|DOK4_uc002elv.3_Missense_Mutation_p.V223I	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	docking protein 4	223	IRS-type PTB.						insulin receptor binding			skin(1)	1						GCACTGTGGACGCGCTGGTAA	0.597												
MMP15	4324	broad.mit.edu	37	16	58074522	58074522	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:58074522T>C	uc002ena.2	+	5	1803	c.830T>C	c.(829-831)ATG>ACG	p.M277T		NM_002428	NP_002419	P51511	MMP15_HUMAN	matrix metalloproteinase 15 preproprotein	277	Extracellular (Potential).				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			central_nervous_system(2)|breast(1)	3						AATGCCATCATGGCGCCGTTC	0.607												
RANBP10	57610	broad.mit.edu	37	16	67763726	67763726	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:67763726C>T	uc002eud.2	-	9	1120	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	RANBP10_uc010ceo.2_Missense_Mutation_p.R106Q|RANBP10_uc010vju.1_Missense_Mutation_p.R279Q|RANBP10_uc010vjv.1_Missense_Mutation_p.R218Q|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	335	CTLH.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CACAAACTGCCGGCACCTGTG	0.627												
CIRH1A	84916	broad.mit.edu	37	16	69184536	69184536	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:69184536C>T	uc002ews.3	+	7	931	c.835C>T	c.(835-837)CGG>TGG	p.R279W	CIRH1A_uc002ewr.2_Missense_Mutation_p.R279W|CIRH1A_uc002ewt.3_Missense_Mutation_p.R196W|CIRH1A_uc010cfi.2_Missense_Mutation_p.R196W|CIRH1A_uc010cfj.1_Missense_Mutation_p.R98W	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	cirhin	279						nucleolus	protein binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCAGTGGGTGCGGACAAAACC	0.567											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
FUK	197258	broad.mit.edu	37	16	70503177	70503177	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:70503177C>T	uc002eyy.2	+	10	964	c.906C>T	c.(904-906)AGC>AGT	p.S302S	FUK_uc010cft.2_Silent_p.S334S|FUK_uc002eyz.2_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	302						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				ATCTGCAGAGCGCCCGGGCCC	0.642												
ZNF23	7571	broad.mit.edu	37	16	71483393	71483393	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:71483393A>G	uc002faf.2	-	6	1349	c.535T>C	c.(535-537)TGT>CGT	p.C179R	ZNF23_uc002fad.2_Missense_Mutation_p.C121R|ZNF23_uc002fae.2_Missense_Mutation_p.C121R|ZNF23_uc010vmf.1_Missense_Mutation_p.C121R|ZNF23_uc002fag.2_Missense_Mutation_p.C121R|ZNF23_uc002fah.2_Missense_Mutation_p.C179R|ZNF23_uc002fai.2_Missense_Mutation_p.C218R	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	179	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGAGAGTCACACCTAAAGGGC	0.373												
PHLPP2	23035	broad.mit.edu	37	16	71712666	71712666	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:71712666C>A	uc002fax.2	-	7	1266	c.1260G>T	c.(1258-1260)GTG>GTT	p.V420V	PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.V420V|PHLPP2_uc002fay.1_Silent_p.V420V	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein	420	LRR 8.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			ovary(1)|central_nervous_system(1)	2						ACCTTAAATCCACATGCTTGA	0.378												
CHST5	23563	broad.mit.edu	37	16	75563303	75563303	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:75563303T>G	uc002fei.2	-	3	2375	c.980A>C	c.(979-981)AAC>ACC	p.N327T	CHST5_uc002fej.1_Missense_Mutation_p.N333T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	327	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0						GTGGGTGATGTTGTGGATCCA	0.667												
BCMO1	53630	broad.mit.edu	37	16	81303868	81303868	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:81303868C>T	uc002fgn.1	+	7	1166	c.948C>T	c.(946-948)GAC>GAT	p.D316D	BCMO1_uc010vnp.1_Silent_p.D247D	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase	316					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity				0						ACGAAGAGGACGGCTGCATCG	0.537												
KIAA1609	57707	broad.mit.edu	37	16	84520637	84520637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:84520637C>T	uc002fib.2	-	5	665	c.558G>A	c.(556-558)TGG>TGA	p.W186*	KIAA1609_uc010vod.1_Nonsense_Mutation_p.W159*|KIAA1609_uc002fic.2_RNA	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	hypothetical protein LOC57707	186							protein binding			ovary(2)	2						CATAGTCCAGCCACTGGGGCC	0.517												
ZCCHC14	23174	broad.mit.edu	37	16	87446254	87446254	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:87446254G>T	uc002fjz.1	-	12	1689	c.1662C>A	c.(1660-1662)AGC>AGA	p.S554R	ZCCHC14_uc002fka.1_RNA|ZCCHC14_uc002fkb.2_Missense_Mutation_p.S330R	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	554					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGCTGCCAAAGCTCTTGTCCA	0.557												
C16orf7	9605	broad.mit.edu	37	16	89774889	89774889	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:89774889C>T	uc002fom.1	-	14	1873	c.1748G>A	c.(1747-1749)GGC>GAC	p.G583D	C16orf7_uc002fol.1_Missense_Mutation_p.G513D	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	chromosome 16 open reading frame 7	583	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity				0		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTGAGGGAGGCCGCTCCTCAG	0.672												
TUBB3	10381	broad.mit.edu	37	16	89986504	89986504	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:89986504T>C	uc002fpf.2	+	1	1246	c.838T>C	c.(838-840)TTC>CTC	p.F280L	MC1R_uc002fpe.3_Missense_Mutation_p.F280L|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	tubulin, beta, 4	Error:Variant_position_missing_in_Q13509_after_alignment					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			ovary(2)|pancreas(1)	3		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CTTCAAGAACTTCAACCTCTT	0.587												
NXN	64359	broad.mit.edu	37	17	725693	725693	+	Missense_Mutation	SNP	G	G	A	rs139124108		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:725693G>A	uc002fsa.2	-	4	709	c.617C>T	c.(616-618)CCG>CTG	p.P206L	NXN_uc002fsb.1_Missense_Mutation_p.P93L|NXN_uc010vqd.1_5'UTR|NXN_uc002frz.2_5'UTR|NXN_uc010vqe.1_Missense_Mutation_p.P98L	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	nucleoredoxin	206	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			ovary(2)|breast(1)|pancreas(1)	4				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCGGCAGGGCGGACACTGAAA	0.592												
PRPF8	10594	broad.mit.edu	37	17	1581900	1581900	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:1581900G>A	uc002fte.2	-	13	1880	c.1766C>T	c.(1765-1767)ACG>ATG	p.T589M		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	589						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATACATGCCCGTCAACTGCCC	0.478												
SMG6	23293	broad.mit.edu	37	17	2203279	2203279	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:2203279C>T	uc002fub.1	-	2	823	c.768G>A	c.(766-768)ACG>ACA	p.T256T	SMG6_uc002fud.1_Silent_p.T225T	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	256	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TGGTGCTGCGCGTGCGGTAGC	0.662												
GP1BA	2811	broad.mit.edu	37	17	4836563	4836563	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:4836563C>A	uc010vsq.1	+	2	739	c.664C>A	c.(664-666)CCC>ACC	p.P222T	uc002fzn.1_RNA	NM_000173	NP_000164	P07359	GP1BA_HUMAN	platelet glycoprotein Ib alpha polypeptide	222											0						CCACGGGAACCCCTGGTTATG	0.498												
AIPL1	23746	broad.mit.edu	37	17	6328975	6328975	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:6328975C>T	uc002gcp.2	-	6	1055	c.960G>A	c.(958-960)CGG>CGA	p.R320R	AIPL1_uc002gcq.2_Silent_p.R260R|AIPL1_uc002gcr.2_Silent_p.R257R|AIPL1_uc010clk.2_Silent_p.R298R|AIPL1_uc010cll.2_Silent_p.R296R|AIPL1_uc002gcs.2_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting	320					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding				0				COAD - Colon adenocarcinoma(228;0.141)		GGCAGCGCAGCCGCTCCTCCT	0.458												
ASGR1	432	broad.mit.edu	37	17	7077743	7077743	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:7077743A>G	uc002ges.3	-	6	802	c.392T>C	c.(391-393)GTG>GCG	p.V131A	ASGR1_uc010clx.1_Missense_Mutation_p.V30A	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	131	Extracellular (Probable).				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2						CAGGTCAGACACGAACTGCTT	0.667												
NEURL4	84461	broad.mit.edu	37	17	7230998	7230998	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:7230998C>T	uc002gga.1	-	2	495	c.488G>A	c.(487-489)CGC>CAC	p.R163H	NEURL4_uc002ggb.1_Missense_Mutation_p.R163H|NEURL4_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	163	NHR 1.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2						AGCAACTGTGCGCTCCACGCC	0.642												
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
NTN1	9423	broad.mit.edu	37	17	9066235	9066235	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:9066235C>T	uc002glw.3	+	3	1231	c.1124C>T	c.(1123-1125)ACC>ATC	p.T375I		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	375	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding				0						CGCCACAACACCGCCGGCCGC	0.632												
NCOR1	9611	broad.mit.edu	37	17	16049688	16049688	+	Splice_Site	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:16049688A>G	uc002gpo.2	-	10	1322	c.1082_splice	c.e10+1	p.R361_splice	NCOR1_uc002gpn.2_Splice_Site_p.R361_splice|NCOR1_uc002gpp.1_Splice_Site_p.R252_splice|NCOR1_uc002gpr.2_Splice_Site_p.R252_splice|NCOR1_uc002gps.1_Splice_Site_p.R370_splice|NCOR1_uc010coz.1_Splice_Site_p.R177_splice|NCOR1_uc010cpb.1_Splice_Site_p.R370_splice|NCOR1_uc010cpa.1_Splice_Site_p.R361_splice	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAACTACTCACCGCTGAAAT	0.259												
RAI1	10743	broad.mit.edu	37	17	17697546	17697546	+	Silent	SNP	G	G	A	rs113249215		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:17697546G>A	uc002grm.2	+	3	1753	c.1284G>A	c.(1282-1284)TCG>TCA	p.S428S	RAI1_uc002grn.1_Silent_p.S428S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	428						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		ACCTGCTGTCGGATCTCAGCC	0.612												
SREBF1	6720	broad.mit.edu	37	17	17721064	17721064	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:17721064G>A	uc002gru.1	-	7	1544	c.1350C>T	c.(1348-1350)AGC>AGT	p.S450S	SREBF1_uc002grp.1_Missense_Mutation_p.A20V|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Silent_p.S196S|SREBF1_uc002grs.1_Silent_p.S426S|SREBF1_uc002grt.1_Silent_p.S480S|SREBF1_uc010cpp.1_Silent_p.S426S|SREBF1_uc010cpq.1_Silent_p.S450S	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	450	Gly/Pro/Ser-rich.|Cytoplasmic (Potential).|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1						CACTGCCACCGCTGCCACTGC	0.647												
TOM1L2	146691	broad.mit.edu	37	17	17754256	17754256	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:17754256G>A	uc002grz.3	-	13	1446	c.1289C>T	c.(1288-1290)GCG>GTG	p.A430V	TOM1L2_uc002gry.3_Missense_Mutation_p.A380V|TOM1L2_uc010vwy.1_Missense_Mutation_p.A406V|TOM1L2_uc010cpr.2_Missense_Mutation_p.A385V|TOM1L2_uc010vwz.1_Missense_Mutation_p.A311V|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.A163V	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	430					intracellular protein transport	intracellular					0	all_neural(463;0.228)					AGATGGCTGCGCAACGGGGAT	0.587												
CYTSB	92521	broad.mit.edu	37	17	20108736	20108736	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:20108736T>C	uc002gwq.2	+	4	1519	c.1374T>C	c.(1372-1374)ACT>ACC	p.T458T	CYTSB_uc010cqx.2_Silent_p.T458T|CYTSB_uc002gwr.2_Silent_p.T458T|CYTSB_uc002gws.2_Silent_p.T458T|CYTSB_uc002gwv.2_Silent_p.T377T|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Silent_p.T234T|CYTSB_uc002gwt.2_Silent_p.T377T|CYTSB_uc002gwu.2_Silent_p.T377T	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	458						nucleus					0						AGCCCACCACTCAGGAAGGAA	0.443												
KCNJ12	3768	broad.mit.edu	37	17	21318878	21318878	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:21318878G>A	uc002gyv.1	+	3	929	c.224G>A	c.(223-225)TGT>TAT	p.C75Y		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	75	Cytoplasmic (By similarity).				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	TTCACCACCTGTGTGGACATC	0.572										Prostate(3;0.18)		
SLC13A2	9058	broad.mit.edu	37	17	26821104	26821104	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:26821104A>G	uc002hbh.2	+	8	1234	c.1167A>G	c.(1165-1167)CCA>CCG	p.P389P	SLC13A2_uc010wal.1_3'UTR|SLC13A2_uc010wam.1_Silent_p.P345P|SLC13A2_uc010wan.1_Silent_p.P438P|SLC13A2_uc010wao.1_Silent_p.P346P|SLC13A2_uc002hbi.2_Silent_p.P318P	NM_003984	NP_003975	Q13183	S13A2_HUMAN	solute carrier family 13, member 2 isoform b	389	Helical; (Potential).					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity				0	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAAGTTCCCAGGGCTGACCC	0.557												
MYO18A	399687	broad.mit.edu	37	17	27421841	27421841	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:27421841T>C	uc002hdt.1	-	30	4695	c.4537A>G	c.(4537-4539)ACC>GCC	p.T1513A	MYO18A_uc010wbc.1_Missense_Mutation_p.T1055A|MYO18A_uc002hds.2_Missense_Mutation_p.T1055A|MYO18A_uc010csa.1_Missense_Mutation_p.T1513A|MYO18A_uc002hdu.1_Missense_Mutation_p.T1513A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1513	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ACCTTCTGGGTGAACCCTGCA	0.552												
NF1	4763	broad.mit.edu	37	17	29677318	29677318	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:29677318A>G	uc002hgg.2	+	50	7772	c.7439A>G	c.(7438-7440)CAT>CGT	p.H2480R	NF1_uc002hgh.2_Missense_Mutation_p.H2459R|NF1_uc010cso.2_Missense_Mutation_p.H668R|NF1_uc010wbt.1_Missense_Mutation_p.M11V|NF1_uc010wbu.1_RNA	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	2480					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCATTCATCATGGTGACCCT	0.363			D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)		
CDK5R1	8851	broad.mit.edu	37	17	30815316	30815316	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:30815316G>A	uc002hhn.2	+	2	899	c.678G>A	c.(676-678)CTG>CTA	p.L226L	CDK5R1_uc010wca.1_Silent_p.L226L|CDK5R1_uc010ctc.2_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1	226					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			AGGCCGTCCTGCTGACATGCC	0.597												
SPACA3	124912	broad.mit.edu	37	17	31324543	31324543	+	Splice_Site	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:31324543T>C	uc002hhs.1	+	4	656	c.581_splice	c.e4+2	p.W194_splice	SPACA3_uc010cte.1_Splice_Site	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3						cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(9;0.193)			GGGTTACTGGTAAGTAACTTG	0.512												
LIG3	3980	broad.mit.edu	37	17	33313055	33313055	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:33313055A>G	uc002hik.1	+	3	704	c.596A>G	c.(595-597)CAG>CGG	p.Q199R	LIG3_uc002hii.2_Missense_Mutation_p.Q199R|LIG3_uc002hij.2_Missense_Mutation_p.Q199R|LIG3_uc010cth.1_Missense_Mutation_p.Q208R	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	199					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)	GCTGTTGTCCAGGCTAAGTTG	0.453								Other_BER_factors				
MMP28	79148	broad.mit.edu	37	17	34095306	34095306	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:34095306G>A	uc002hjy.1	-	8	1202	c.943C>T	c.(943-945)CGC>TGC	p.R315C	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	315					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTCAGGGCGCCTTCCTTGG	0.562												
FBXL20	84961	broad.mit.edu	37	17	37455302	37455302	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:37455302C>T	uc010wed.1	-	5	491	c.270G>A	c.(268-270)GGG>GGA	p.G90G	FBXL20_uc002hrt.2_Silent_p.G90G|FBXL20_uc010cvu.2_Silent_p.G90G	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	90	LRR 1.					cytoplasm				ovary(1)	1			LUAD - Lung adenocarcinoma(14;0.146)			GTAAAAAGCCCCCACATCGTT	0.373												
MED24	9862	broad.mit.edu	37	17	38191589	38191589	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:38191589C>T	uc002htt.2	-	6	653	c.340G>A	c.(340-342)GCA>ACA	p.A114T	MED24_uc010wes.1_5'UTR|MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.A139T|MED24_uc002htu.2_Missense_Mutation_p.A101T|MED24_uc010cwn.2_Missense_Mutation_p.A101T|MED24_uc010weu.1_Missense_Mutation_p.A24T|MED24_uc010wev.1_Missense_Mutation_p.A64T|MED24_uc010wew.1_Missense_Mutation_p.A43T|MED24_uc010wex.1_Intron|MED24_uc010wez.1_5'Flank|MED24_uc010wfa.1_Missense_Mutation_p.A64T|MED24_uc010wfb.1_Missense_Mutation_p.A126T|MED24_uc010wfc.1_Missense_Mutation_p.A51T	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	114					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1	Colorectal(19;0.000442)					CATTCCTCTGCTTTGCCGTGA	0.597											OREG0024387	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TOP2A	7153	broad.mit.edu	37	17	38562635	38562635	+	Splice_Site	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:38562635C>T	uc002huq.2	-	16	2079	c.1953_splice	c.e16+1	p.L651_splice		NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme						apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTCAAACCTACCAGGCTGATA	0.328												
GAST	2520	broad.mit.edu	37	17	39871806	39871806	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:39871806A>G	uc002hxl.2	+	2	150	c.118A>G	c.(118-120)AGG>GGG	p.R40G	JUP_uc010wfs.1_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	gastrin preproprotein	40		Cleavage.				extracellular region	hormone activity				0		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			AGGGGCCAACAGGGACCTGGA	0.632												
JUP	3728	broad.mit.edu	37	17	39925443	39925443	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:39925443G>A	uc002hxq.2	-	4	762	c.485C>T	c.(484-486)GCG>GTG	p.A162V	JUP_uc010wfs.1_Missense_Mutation_p.A162V|JUP_uc002hxr.2_Missense_Mutation_p.A162V|JUP_uc002hxs.2_Missense_Mutation_p.A162V	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	162	ARM 1.				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AATCATGGCCGCCTTGGTCAC	0.657												
FKBP10	60681	broad.mit.edu	37	17	39975515	39975515	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:39975515G>A	uc002hxv.2	+	5	1106	c.781G>A	c.(781-783)GTG>ATG	p.V261M	FKBP10_uc002hxw.1_Translation_Start_Site	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	FK506 binding protein 10 precursor	261	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CCTGATTGACGTGCACAACCC	0.617												
CNTNAP1	8506	broad.mit.edu	37	17	40849679	40849679	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:40849679C>T	uc002iay.2	+	22	3892	c.3676C>T	c.(3676-3678)CGA>TGA	p.R1226*	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	1226	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GACCCACTTCCGAACCCCTCG	0.552												
DHX8	1659	broad.mit.edu	37	17	41570257	41570257	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:41570257C>T	uc002idu.1	+	6	785	c.712C>T	c.(712-714)CGG>TGG	p.R238W	DHX8_uc010wif.1_Missense_Mutation_p.R147W|DHX8_uc010wig.1_Missense_Mutation_p.R238W	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	238						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCGGAAGGACCGGGACAAATA	0.542												
PYY	5697	broad.mit.edu	37	17	42030346	42030346	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:42030346G>A	uc002ieq.2	-	7	813	c.272C>T	c.(271-273)TCG>TTG	p.S91L	PYY_uc002ier.1_3'UTR	NM_004160	NP_004151	P10082	PYY_HUMAN	peptide YY precursor	91					cell proliferation|cell-cell signaling|cellular component movement|cytoskeleton organization|digestion|G-protein coupled receptor protein signaling pathway	soluble fraction					0		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TGGGCCCTCCGACCTGCGGAA	0.642												
FMNL1	752	broad.mit.edu	37	17	43322710	43322710	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:43322710T>C	uc002iin.2	+	22	3019	c.2819T>C	c.(2818-2820)ATG>ACG	p.M940T	FMNL1_uc002iiq.2_Missense_Mutation_p.M518T|FMNL1_uc010dag.2_RNA|LOC100133991_uc010dah.2_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	940	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1						GATGACTGCATGGTGCTCAAG	0.637												
KPNB1	3837	broad.mit.edu	37	17	45734321	45734321	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:45734321G>A	uc002ilt.1	+	4	714	c.378G>A	c.(376-378)TGG>TGA	p.W126*	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	126	HEAT 1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						TAAACCAGTGGCCAGAACTCA	0.502												
KPNB1	3837	broad.mit.edu	37	17	45741591	45741591	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:45741591A>G	uc002ilt.1	+	8	1189	c.853A>G	c.(853-855)AAT>GAT	p.N285D	KPNB1_uc010wkw.1_Missense_Mutation_p.N140D|KPNB1_uc010wkx.1_Intron	NM_002265	NP_002256	Q14974	IMB1_HUMAN	karyopherin beta 1	285					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3						ATTCTGGTCCAATGTCTGTGA	0.428												
DLX3	1747	broad.mit.edu	37	17	48070879	48070879	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:48070879G>A	uc002ipy.2	-	2	627	c.401C>T	c.(400-402)ACG>ATG	p.T134M		NM_005220	NP_005211	O60479	DLX3_HUMAN	distal-less homeobox 3	134	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						GGAGTAGATCGTACGCGGCTT	0.687												
ITGA3	3675	broad.mit.edu	37	17	48151644	48151644	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:48151644G>A	uc010dbl.2	+	9	1846	c.1382G>A	c.(1381-1383)CGG>CAG	p.R461Q	ITGA3_uc010dbm.2_Missense_Mutation_p.R461Q	NM_002204	NP_002195	P26006	ITA3_HUMAN	integrin alpha 3 isoform a precursor	461	FG-GAP 7.|Extracellular (Potential).				blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			ovary(2)|pancreas(1)	3						GTGCTGCTGCGGTGAGCCAGG	0.527												
MMD	23531	broad.mit.edu	37	17	53488653	53488653	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:53488653T>C	uc002iui.2	-	3	519	c.234A>G	c.(232-234)GTA>GTG	p.V78V		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	monocyte to macrophage	78	Helical; (Potential).				cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity				0						CAATGTGAAATACTGTAGAAA	0.448												
TRIM37	4591	broad.mit.edu	37	17	57093004	57093004	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:57093004G>A	uc002iwy.3	-	21	2987	c.2543C>T	c.(2542-2544)GCG>GTG	p.A848V	TRIM37_uc002iwz.3_Missense_Mutation_p.A848V|TRIM37_uc002ixa.3_Missense_Mutation_p.A726V|TRIM37_uc010woc.1_Missense_Mutation_p.A814V	NM_001005207	NP_001005207	O94972	TRI37_HUMAN	tripartite motif-containing 37 protein	848						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTCAACCGCAGGCAAGCC	0.398									Mulibrey_Nanism			
TBX2	6909	broad.mit.edu	37	17	59479301	59479301	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:59479301A>G	uc010wox.1	+	2	933	c.652A>G	c.(652-654)AAG>GAG	p.K218E	TBX2_uc002ize.2_Missense_Mutation_p.K208E|TBX2_uc002izg.2_Missense_Mutation_p.K64E	NM_005994	NP_005985	Q13207	TBX2_HUMAN	T-box 2	218	T-box.				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding				0						CATCTCTGACAAGCACGGCTT	0.612												
INTS2	57508	broad.mit.edu	37	17	59989018	59989018	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:59989018A>G	uc002izn.2	-	7	917	c.841T>C	c.(841-843)TTG>CTG	p.L281L	INTS2_uc002izm.2_Silent_p.L273L	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	281					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						TCCAATGTCAAAGCCACACCA	0.418												
CSH1	1442	broad.mit.edu	37	17	61972426	61972426	+	Missense_Mutation	SNP	G	G	A	rs139446025	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:61972426G>A	uc002jcs.1	-	5	726	c.610C>T	c.(610-612)CGC>TGC	p.R204C	CSH2_uc002jck.2_Intron|CSH1_uc002jcp.1_3'UTR|CSH1_uc002jcq.1_Missense_Mutation_p.R165C|CSH1_uc002jcr.1_3'UTR|CSH1_uc002jct.1_Missense_Mutation_p.R170C|CSH1_uc002jcu.1_3'UTR|CSH1_uc002jcv.1_Missense_Mutation_p.R109C|CSH1_uc002jcw.2_3'UTR	NM_001317	NP_001308	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 isoform 1	204					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			skin(1)	1						TGCACCATGCGCAGGAATGTC	0.582									Russell-Silver_syndrome			
UNC13D	201294	broad.mit.edu	37	17	73836367	73836367	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:73836367C>T	uc002jpp.2	-	10	1177	c.797G>A	c.(796-798)CGC>CAC	p.R266H	UNC13D_uc010wsk.1_Missense_Mutation_p.R266H|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_Missense_Mutation_p.R63H	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	266	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTCTCAGTGCGGGGTTCCAG	0.647									Familial_Hemophagocytic_Lymphohistiocytosis			
USP36	57602	broad.mit.edu	37	17	76795011	76795011	+	Silent	SNP	G	G	A	rs148007252		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:76795011G>A	uc002jvz.1	-	19	3544	c.3219C>T	c.(3217-3219)GAC>GAT	p.D1073D	USP36_uc002jwa.1_Silent_p.D1073D|USP36_uc002jvy.1_Silent_p.D133D	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	1071					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAAACTCTTCGTCCCAGTCAT	0.587												
CCDC40	55036	broad.mit.edu	37	17	78013825	78013825	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:78013825C>T	uc010dht.2	+	3	335	c.308C>T	c.(307-309)CCG>CTG	p.P103L	CCDC40_uc010wub.1_Missense_Mutation_p.P103L	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	103					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				ovary(3)	3	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTTCATCCCCGGAAGGGCAA	0.398												
NPTX1	4884	broad.mit.edu	37	17	78447193	78447193	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:78447193C>T	uc002jyp.1	-	3	862	c.704G>A	c.(703-705)CGG>CAG	p.R235Q		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	neuronal pentraxin I precursor	235	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding				0	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ATAGTTGGTCCGCAGTGGGAA	0.557												
HGS	9146	broad.mit.edu	37	17	79667727	79667727	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:79667727C>T	uc002kbg.2	+	20	2096	c.2019C>T	c.(2017-2019)AAC>AAT	p.N673N	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	673	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CTCCGCAGAACGTGGCCTCCC	0.542												
PCYT2	5833	broad.mit.edu	37	17	79865653	79865653	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:79865653C>G	uc002kcf.1	-	5	551	c.488G>C	c.(487-489)AGC>ACC	p.S163T	PCYT2_uc010wva.1_Missense_Mutation_p.S131T|PCYT2_uc010wvb.1_Missense_Mutation_p.S131T|PCYT2_uc002kce.1_Missense_Mutation_p.S85T|PCYT2_uc002kcg.1_Missense_Mutation_p.S174T|PCYT2_uc002kch.1_Missense_Mutation_p.S163T|PCYT2_uc002kci.1_Missense_Mutation_p.S104T|PCYT2_uc010dii.1_Missense_Mutation_p.S163T|PCYT2_uc010wvc.1_Missense_Mutation_p.S85T	NM_002861	NP_002852	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	163	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACTCACCTGGCTGCTGTGATG	0.662												
MYOM1	8736	broad.mit.edu	37	18	3215000	3215000	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:3215000C>T	uc002klp.2	-	2	556	c.222G>A	c.(220-222)TCG>TCA	p.S74S	MYOM1_uc002klq.2_Silent_p.S74S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	74						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5						GGGCGTGCTGCGAGGCCTGCT	0.682												
RBBP8	5932	broad.mit.edu	37	18	20516850	20516850	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:20516850C>A	uc002ktw.2	+	2	367	c.36C>A	c.(34-36)AAC>AAA	p.N12K	RBBP8_uc002kty.2_Missense_Mutation_p.N12K|RBBP8_uc002ktz.2_Missense_Mutation_p.N12K|RBBP8_uc002kua.2_Missense_Mutation_p.N12K|RBBP8_uc002ktx.1_Missense_Mutation_p.N12K	NM_002894	NP_002885	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	12					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|lung(1)|skin(1)	3	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GAAGCCCTAACTCTGCAGATA	0.358								Direct_reversal_of_damage|Homologous_recombination				
CDH2	1000	broad.mit.edu	37	18	25532148	25532148	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:25532148A>T	uc002kwg.2	-	16	3149	c.2690T>A	c.(2689-2691)CTT>CAT	p.L897H	CDH2_uc010xbn.1_Missense_Mutation_p.L866H	NM_001792	NP_001783	P19022	CADH2_HUMAN	cadherin 2, type 1 preproprotein	897	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4						CATGTCAGCAAGTTTCTTGAA	0.468												
ASXL3	80816	broad.mit.edu	37	18	31318982	31318982	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:31318982A>C	uc010dmg.1	+	11	1669	c.1614A>C	c.(1612-1614)GAA>GAC	p.E538D	ASXL3_uc002kxq.2_Missense_Mutation_p.E245D	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3						ATCAGTTAGAAGTCTGTGACT	0.398												
KIAA1632	57724	broad.mit.edu	37	18	43497754	43497754	+	Silent	SNP	T	T	C	rs113333959		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:43497754T>C	uc002lbm.2	-	17	3229	c.3129A>G	c.(3127-3129)CCA>CCG	p.P1043P	KIAA1632_uc002lbo.1_Silent_p.P1043P|KIAA1632_uc010xcq.1_5'Flank|KIAA1632_uc010xcr.1_5'Flank|KIAA1632_uc010xcs.1_5'Flank|KIAA1632_uc002lbn.2_5'UTR	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1043					autophagy						0						TTCCCAATAGTGGGATGCCTT	0.413												
TCEB3B	51224	broad.mit.edu	37	18	44560001	44560001	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:44560001G>A	uc002lcr.1	-	1	1988	c.1635C>T	c.(1633-1635)AGC>AGT	p.S545S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	545	Activation domain (By similarity).				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						CTCCCACGTCGCTGAGGGCGT	0.607												
MYO5B	4645	broad.mit.edu	37	18	47488638	47488638	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:47488638T>C	uc002leb.2	-	12	1831	c.1543A>G	c.(1543-1545)AAG>GAG	p.K515E	MYO5B_uc002lec.1_Missense_Mutation_p.K514E	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	515	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)		AGTTTTACCTTACATTCTTCA	0.398												
MAPK4	5596	broad.mit.edu	37	18	48190774	48190774	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:48190774A>G	uc002lev.2	+	2	1446	c.446A>G	c.(445-447)GAC>GGC	p.D149G	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.D149G	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	149	Protein kinase.	Proton acceptor (By similarity).			cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCACAGGGACCTGAAGCCC	0.572												
DCC	1630	broad.mit.edu	37	18	50866217	50866217	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:50866217C>A	uc002lfe.1	+	15	2886	c.2299C>A	c.(2299-2301)CCT>ACT	p.P767T	DCC_uc010xdr.1_Missense_Mutation_p.P615T|DCC_uc010dpf.1_Missense_Mutation_p.P422T	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	767	Extracellular (Potential).|Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGTTGGGAGCCCTTACGCTGA	0.458												
C18orf54	162681	broad.mit.edu	37	18	51888064	51888064	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:51888064G>C	uc002lfn.3	+	3	451	c.335G>C	c.(334-336)AGA>ACA	p.R112T	C18orf54_uc002lfo.3_Missense_Mutation_p.R112T	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	hypothetical protein LOC162681 precursor	112						extracellular region				ovary(1)|skin(1)	2				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		TCCTGTAGAAGACACACCGTT	0.338												
ALPK2	115701	broad.mit.edu	37	18	56203863	56203863	+	Missense_Mutation	SNP	G	G	A	rs139032503		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:56203863G>A	uc002lhj.3	-	5	3770	c.3556C>T	c.(3556-3558)CGC>TGC	p.R1186C	ALPK2_uc002lhk.1_Missense_Mutation_p.R517C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1186							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						CAACCTGAGCGCTGCCCTGCT	0.552												
MC4R	4160	broad.mit.edu	37	18	58038752	58038752	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:58038752A>G	uc002lie.1	-	1	1250	c.831T>C	c.(829-831)TGT>TGC	p.C277C		NM_005912	NP_005903	P32245	MC4R_HUMAN	melanocortin 4 receptor	277	Extracellular (Potential).				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			lung(1)	1		Colorectal(73;0.0946)				TGAAGCACACACAATATGGAT	0.423												
PIGN	23556	broad.mit.edu	37	18	59742043	59742043	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:59742043A>G	uc002lii.3	-	30	3036	c.2588T>C	c.(2587-2589)ATT>ACT	p.I863T	PIGN_uc002lij.3_Missense_Mutation_p.I863T	NM_176787	NP_789744	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	863	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	5		Colorectal(73;0.187)				GACGAGAACAATGAGAAAAAG	0.323												
TSHZ1	10194	broad.mit.edu	37	18	72998236	72998236	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:72998236C>T	uc002lly.2	+	2	1302	c.739C>T	c.(739-741)CGC>TGC	p.R247C		NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	teashirt family zinc finger 1	292						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)		GCCCAGGAAGCGCTCCCTGAT	0.577												
SALL3	27164	broad.mit.edu	37	18	76757273	76757273	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:76757273G>A	uc002lmt.2	+	3	3854	c.3854G>A	c.(3853-3855)CGC>CAC	p.R1285H	SALL3_uc010dra.2_Missense_Mutation_p.R820H	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCCAGCCGCCCATTCACG	0.572												
MED16	10025	broad.mit.edu	37	19	873579	873579	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:873579A>G	uc002lqd.1	-	11	1926	c.1775T>C	c.(1774-1776)ATT>ACT	p.I592T	MED16_uc010drw.1_Missense_Mutation_p.I417T|MED16_uc002lqe.2_Missense_Mutation_p.I581T|MED16_uc002lqf.2_Missense_Mutation_p.I581T|MED16_uc010xfv.1_RNA|MED16_uc010xfw.1_Missense_Mutation_p.I512T|MED16_uc010xfx.1_Missense_Mutation_p.I437T|MED16_uc010xfy.1_Missense_Mutation_p.I169T|MED16_uc010xfz.1_RNA	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	592					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCTTGTCAATGTCTACAAG	0.577												
EFNA2	1943	broad.mit.edu	37	19	1298589	1298589	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:1298589G>A	uc002lry.1	+	3	494	c.494G>A	c.(493-495)CGA>CAA	p.R165Q		NM_001405	NP_001396	O43921	EFNA2_HUMAN	ephrin-A2 precursor	165					cell-cell signaling	anchored to membrane|plasma membrane	ephrin receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTGCCTGCGACTGAAGGTG	0.627												
TMPRSS9	360200	broad.mit.edu	37	19	2422198	2422198	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:2422198C>T	uc010xgx.1	+	13	2399	c.2399C>T	c.(2398-2400)ACG>ATG	p.T800M		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	800	Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(1)|central_nervous_system(1)	2				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)		AGGGGACAGACGCCATTTCCA	0.642												
TLE2	7089	broad.mit.edu	37	19	3028785	3028785	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:3028785C>T	uc002lww.2	-	2	304	c.41G>A	c.(40-42)GGC>GAC	p.G14D	TLE2_uc010dth.2_Missense_Mutation_p.G14D|TLE2_uc010xhc.1_5'UTR|TLE2_uc010dti.2_Missense_Mutation_p.G27D|TLE2_uc010xhd.1_Missense_Mutation_p.G14D	NM_003260	NP_003251	Q04725	TLE2_HUMAN	transducin-like enhancer protein 2 isoform 1	14	Gln-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity				0				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)		GAAGGGCTGGCCGGACTGGAG	0.642												
ATCAY	85300	broad.mit.edu	37	19	3907777	3907777	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:3907777C>T	uc002lyy.3	+	5	834	c.404C>T	c.(403-405)GCG>GTG	p.A135V	ATCAY_uc010xhz.1_Missense_Mutation_p.A141V|ATCAY_uc010dts.2_5'Flank	NM_033064	NP_149053	Q86WG3	ATCAY_HUMAN	caytaxin	135					transport		protein binding			breast(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GGGGACAGCGCGGATCTATTT	0.657												
SH3GL1	6455	broad.mit.edu	37	19	4365543	4365543	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:4365543C>T	uc002maj.2	-	4	373	c.267G>A	c.(265-267)TCG>TCA	p.S89S	SH3GL1_uc002mak.2_Intron|SH3GL1_uc010xig.1_Intron	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GAAGCCCCTCCGACTGCGGGT	0.652			T	MLL	AL							
PLIN4	729359	broad.mit.edu	37	19	4512549	4512549	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:4512549C>T	uc002mar.1	-	3	1381	c.1381G>A	c.(1381-1383)GGT>AGT	p.G461S	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	plasma membrane associated protein, S3-12	461	27 X 33 AA approximate tandem repeat.|12.					lipid particle|plasma membrane					0						TTCGCAGCACCGGTGACCCCA	0.577												
EMR1	2015	broad.mit.edu	37	19	6924780	6924780	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:6924780G>A	uc002mfw.2	+	15	1921	c.1883G>A	c.(1882-1884)CGC>CAC	p.R628H	EMR1_uc010dvc.2_Intron|EMR1_uc010dvb.2_Missense_Mutation_p.R576H|EMR1_uc010xji.1_Missense_Mutation_p.R487H|EMR1_uc010xjj.1_Missense_Mutation_p.R451H	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	628	Cytoplasmic (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)					CTGCTGTGTCGCTCCATCCGA	0.517												
ZNF358	140467	broad.mit.edu	37	19	7585134	7585134	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:7585134C>T	uc002mgn.2	+	2	1176	c.1006C>T	c.(1006-1008)CAC>TAC	p.H336Y	MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	zinc finger protein 358	336	C2H2-type 7.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1						CAACTTGCAACACCACCTGCG	0.697												
HNRNPM	4670	broad.mit.edu	37	19	8550540	8550540	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:8550540C>T	uc010dwe.2	+	14	1308	c.1228C>T	c.(1228-1230)CGC>TGC	p.R410C	HNRNPM_uc010xke.1_Missense_Mutation_p.R356C|HNRNPM_uc010dwd.2_Missense_Mutation_p.R371C|HNRNPM_uc002mka.2_Missense_Mutation_p.R275C|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	410	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].|2.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0						TGGCATTGACCGCCTCGGGGG	0.647												
MBD3L1	85509	broad.mit.edu	37	19	8953580	8953580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:8953580G>A	uc002mko.2	+	1	312	c.226G>A	c.(226-228)GCT>ACT	p.A76T		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like	76	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0						GGGACTCCAGGCTTACAGCAG	0.517												
MUC16	94025	broad.mit.edu	37	19	9047875	9047875	+	Silent	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:9047875A>C	uc002mkp.2	-	5	33960	c.33756T>G	c.(33754-33756)ACT>ACG	p.T11252T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	11254	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						AGACAGTCAAAGTTGGAACAA	0.483												
MUC16	94025	broad.mit.edu	37	19	9061285	9061285	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:9061285A>C	uc002mkp.2	-	3	26365	c.26161T>G	c.(26161-26163)TCA>GCA	p.S8721A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8723	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTGTTGCTGAGCTGGTCTCT	0.502												
MUC16	94025	broad.mit.edu	37	19	9085145	9085145	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:9085145C>T	uc002mkp.2	-	1	6874	c.6670G>A	c.(6670-6672)GCA>ACA	p.A2224T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2224	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GGTGGACCTGCGCTGTTTACT	0.483												
COL5A3	50509	broad.mit.edu	37	19	10071325	10071325	+	Splice_Site	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10071325A>G	uc002mmq.1	-	66	5177	c.5091_splice	c.e66+1	p.R1697_splice		NM_015719	NP_056534	P25940	CO5A3_HUMAN	collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)			CCACCCTCTTACCCGGCAGCC	0.617												
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220665	10220665	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10220665C>A	uc002mna.2	+	7	667	c.667C>A	c.(667-669)CGC>AGC	p.R223S	PPAN-P2RY11_uc010xla.1_Missense_Mutation_p.R223S|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Missense_Mutation_p.R223S|PPAN_uc002mnb.1_Missense_Mutation_p.R170S	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	223	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CAACATGAGCCGCCTGCAGGA	0.637												
CDC37	11140	broad.mit.edu	37	19	10503997	10503997	+	Missense_Mutation	SNP	G	G	A	rs143134175		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10503997G>A	uc002mof.1	-	6	963	c.847C>T	c.(847-849)CGC>TGC	p.R283C	CDC37_uc002moe.1_Missense_Mutation_p.R238C|CDC37_uc010dxf.1_Missense_Mutation_p.R120C|CDC37_uc002mog.1_Intron|CDC37_uc002moh.2_Missense_Mutation_p.R283C	NM_007065	NP_008996	Q16543	CDC37_HUMAN	cell division cycle 37 protein	283					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)		CGCTTCTTGCGCTCCTCCTCC	0.692												
SLC44A2	57153	broad.mit.edu	37	19	10738420	10738420	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:10738420T>C	uc002mpf.2	+	3	248	c.109T>C	c.(109-111)TGT>CGT	p.C37R	SLC44A2_uc002mpe.3_Missense_Mutation_p.C35R	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	solute carrier family 44, member 2 isoform 1	37	Helical; (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			ovary(1)	1			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TATCATATGCTGTGTGTTCCT	0.587												
ELAVL3	1995	broad.mit.edu	37	19	11577547	11577547	+	Silent	SNP	G	G	A	rs144461011		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:11577547G>A	uc002mry.1	-	2	485	c.105C>T	c.(103-105)GAC>GAT	p.D35D	ELAVL3_uc002mrx.1_Silent_p.D35D	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	35					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3						TCTTGCTGTCGTCAGTGGCTC	0.488												
ZNF44	51710	broad.mit.edu	37	19	12384634	12384634	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:12384634A>G	uc010xmj.1	-	5	785	c.580T>C	c.(580-582)TGT>CGT	p.C194R	ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.C146R	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	zinc finger protein 44 isoform 1	194	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CCTTTCCCACACTGCTTATGT	0.423												
ZNF490	57474	broad.mit.edu	37	19	12721453	12721453	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:12721453G>T	uc002mtz.2	-	1	171	c.42C>A	c.(40-42)CCC>CCA	p.P14P	ZNF791_uc002mua.2_5'Flank|ZNF791_uc010xml.1_5'Flank|ZNF791_uc010dyu.1_5'Flank|ZNF791_uc010xmm.1_5'Flank	NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GCTCCTCGAGGGGTCGCTCCA	0.582												
ASNA1	439	broad.mit.edu	37	19	12856282	12856282	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:12856282A>C	uc002muv.2	+	3	415	c.401A>C	c.(400-402)GAG>GCG	p.E134A	ASNA1_uc002muw.2_Missense_Mutation_p.E133A	NM_004317	NP_004308	O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog	134					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			ovary(2)	2					Adenosine triphosphate(DB00171)	ATGATGCAGGAGGCCATGAGC	0.642												
EMR2	30817	broad.mit.edu	37	19	14863294	14863294	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:14863294G>A	uc002mzp.1	-	15	2091	c.1635C>T	c.(1633-1635)AGC>AGT	p.S545S	EMR2_uc010dzs.1_Silent_p.S4S|EMR2_uc010xnw.1_Silent_p.S487S|EMR2_uc002mzo.1_Silent_p.S534S|EMR2_uc002mzq.1_Silent_p.S485S|EMR2_uc002mzr.1_Silent_p.S496S|EMR2_uc002mzs.1_Silent_p.S403S|EMR2_uc002mzt.1_Silent_p.S441S|EMR2_uc002mzu.1_Silent_p.S452S|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	545	Helical; Name=1; (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4						GCAGAGAGACGCTCAGCCCCA	0.572												
OR10H1	26539	broad.mit.edu	37	19	15918305	15918305	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:15918305C>T	uc002nbq.2	-	1	632	c.543G>A	c.(541-543)GTG>GTA	p.V181V		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H,	181	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACAGAGGTGGCACATGGCAAG	0.582												
GTPBP3	84705	broad.mit.edu	37	19	17450245	17450245	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:17450245C>T	uc010eas.2	+	7	876	c.811C>T	c.(811-813)CGG>TGG	p.R271W	GTPBP3_uc010xpo.1_Missense_Mutation_p.R293W|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.R271W|GTPBP3_uc002ngg.3_Missense_Mutation_p.R303W|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	271					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1						TCCCCCAGGTCGGAAGCCTGT	0.622												
KCNN1	3780	broad.mit.edu	37	19	18085948	18085948	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:18085948G>A	uc002nht.2	+	4	760	c.450G>A	c.(448-450)ACG>ACA	p.T150T	KCNN1_uc010xqa.1_Silent_p.T150T	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance	150	Helical; Name=Segment S2; (Potential).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity				0						GCCTCTCCACGGCCATCCTGC	0.592												
MAST3	23031	broad.mit.edu	37	19	18242839	18242839	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:18242839G>A	uc002nhz.3	+	14	1466	c.1466G>A	c.(1465-1467)CGT>CAT	p.R489H		NM_015016	NP_055831	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase	489	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			large_intestine(2)|ovary(2)|stomach(1)	5						ATCGTGCACCGTGACCTCAAA	0.637												
SFRS14	10147	broad.mit.edu	37	19	19136411	19136411	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:19136411T>A	uc002nkx.2	-	3	892	c.746A>T	c.(745-747)AAT>ATT	p.N249I	SFRS14_uc002nkz.1_Missense_Mutation_p.N263I|SFRS14_uc002nla.1_Missense_Mutation_p.N249I|SFRS14_uc002nlb.2_Missense_Mutation_p.N249I|SFRS14_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	249					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)			TGTGCTCACATTTCTCAATGT	0.483												
NCAN	1463	broad.mit.edu	37	19	19329855	19329855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:19329855G>A	uc002nlz.2	+	3	304	c.205G>A	c.(205-207)GCA>ACA	p.A69T		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	69	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)			ACGGCCAAGCGCAGCCCGAGA	0.657												
ZNF101	94039	broad.mit.edu	37	19	19790896	19790896	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:19790896T>C	uc002nni.1	+	4	1208	c.1098T>C	c.(1096-1098)TAT>TAC	p.Y366Y	ZNF101_uc010ecg.1_Silent_p.Y246Y|ZNF101_uc002nnj.1_Silent_p.Y246Y	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	366	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						AAAAGCCATATGAATGTACAA	0.388												
RHPN2	85415	broad.mit.edu	37	19	33535190	33535190	+	Silent	SNP	G	G	A	rs140849987		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:33535190G>A	uc002nuf.2	-	2	216	c.150C>T	c.(148-150)GCC>GCT	p.A50A	RHPN2_uc010xro.1_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	50	REM.|Interaction with Rho.				signal transduction	perinuclear region of cytoplasm	protein binding			central_nervous_system(5)|ovary(1)	6	Esophageal squamous(110;0.137)					TCATCCGCACGGCTTTCAGGA	0.512												
GPI	2821	broad.mit.edu	37	19	34868778	34868778	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:34868778G>A	uc002nvg.1	+	6	728	c.625G>A	c.(625-627)GCC>ACC	p.A209T	GPI_uc002nvf.2_Missense_Mutation_p.A248T|GPI_uc010xrv.1_Missense_Mutation_p.A220T|GPI_uc010xrw.1_Missense_Mutation_p.A181T|GPI_uc010edl.1_Missense_Mutation_p.A209T	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	209					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)					GTTCATCATTGCCTCCAAGGT	0.597												
ZNF599	148103	broad.mit.edu	37	19	35251100	35251100	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:35251100C>T	uc010edn.1	-	4	994	c.606G>A	c.(604-606)ACG>ACA	p.T202T	ZNF599_uc010edm.1_Silent_p.T165T	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	zinc finger protein 599	202	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCCACATTCCGTGCATGTGT	0.498												
ZNF829	374899	broad.mit.edu	37	19	37406110	37406110	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:37406110C>T	uc002ofa.1	-	2	322	c.-40G>A	c.(-42--38)CAGTG>CAATG		ZNF568_uc010efg.2_5'Flank|ZNF568_uc010xtn.1_5'Flank|ZNF829_uc002ofb.2_Translation_Start_Site|ZNF568_uc002ofc.2_5'Flank|ZNF568_uc002ofd.2_5'Flank|ZNF568_uc010efe.2_5'Flank|ZNF568_uc010eff.1_5'Flank	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTGTGTTCACTGCTGTCCAG	0.517												
RYR1	6261	broad.mit.edu	37	19	38939370	38939370	+	Missense_Mutation	SNP	G	G	A	rs138647682		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:38939370G>A	uc002oit.2	+	11	1169	c.1039G>A	c.(1039-1041)GTG>ATG	p.V347M	RYR1_uc002oiu.2_Missense_Mutation_p.V347M	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	347	Cytoplasmic.|MIR 5.				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)	ACTGTGCTTCGTGCAGCATGT	0.602												
RYR1	6261	broad.mit.edu	37	19	38948733	38948733	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:38948733G>A	uc002oit.2	+	18	2098	c.1968G>A	c.(1966-1968)ACG>ACA	p.T656T	RYR1_uc002oiu.2_Silent_p.T656T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	656	Cytoplasmic.|B30.2/SPRY 1.				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)	AAGGCACCACGCAGTACAGCA	0.612												
IL28A	282616	broad.mit.edu	37	19	39760138	39760138	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:39760138G>A	uc002oku.1	+	4	333	c.281G>A	c.(280-282)CGC>CAC	p.R94H		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	interleukin 28A precursor	94					response to virus	extracellular space	cytokine activity			ovary(1)|skin(1)	2	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTGAGGGAGCGCCCCATGGCT	0.373												
TIMM50	92609	broad.mit.edu	37	19	39976416	39976416	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:39976416T>C	uc002olu.1	+	6	903	c.770T>C	c.(769-771)CTC>CCC	p.L257P	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	154	Mitochondrial intermembrane (Potential).|FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTTTTGGAGCTCACCGGCGTC	0.453												
ZNF780B	163131	broad.mit.edu	37	19	40542152	40542152	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:40542152T>C	uc002omu.2	-	5	679	c.614A>G	c.(613-615)CAC>CGC	p.H205R	ZNF780B_uc002omv.2_Missense_Mutation_p.H57R	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	205	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|pancreas(1)	2	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAGTTGTATGTGAAGTTGAAA	0.363												
BCKDHA	593	broad.mit.edu	37	19	41916646	41916646	+	Silent	SNP	C	C	T	rs138025447	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:41916646C>T	uc002oqq.2	+	2	242	c.213C>T	c.(211-213)AAC>AAT	p.N71N	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.N105N|BCKDHA_uc002oqp.1_Translation_Start_Site|BCKDHA_uc002oqr.2_Silent_p.N71N|BCKDHA_uc010xvz.1_Silent_p.N49N	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	71					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0						TCCAGCCCAACGTCATCTCTG	0.597												
ZNF574	64763	broad.mit.edu	37	19	42585199	42585199	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:42585199G>A	uc002osm.3	+	2	2610	c.2441G>A	c.(2440-2442)CGC>CAC	p.R814H	ZNF574_uc002osk.3_Missense_Mutation_p.R904H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	814	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GAACATCGCCGCATCCACACA	0.612												
DHDH	27294	broad.mit.edu	37	19	49442913	49442913	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:49442913C>T	uc002ple.1	+	4	614	c.574C>T	c.(574-576)CAG>TAG	p.Q192*		NM_014475	NP_055290	Q9UQ10	DHDH_HUMAN	dimeric dihydrodiol dehydrogenase	192					carbohydrate metabolic process		binding|D-xylose 1-dehydrogenase (NADP+) activity|electron carrier activity|NAD(P)+ transhydrogenase activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity				0		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000158)|all cancers(93;0.000258)|Epithelial(262;0.0173)|GBM - Glioblastoma multiforme(486;0.0179)		CTTTGGAGGGCAGAAGCCAGA	0.562												
VRK3	51231	broad.mit.edu	37	19	50482394	50482394	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:50482394C>T	uc002prg.2	-	14	1480	c.1382G>A	c.(1381-1383)CGT>CAT	p.R461H	VRK3_uc002prh.1_Missense_Mutation_p.R461H|VRK3_uc002pri.1_Missense_Mutation_p.R411H|VRK3_uc010ens.2_Missense_Mutation_p.R461H|VRK3_uc010ybl.1_Missense_Mutation_p.R411H|VRK3_uc010ybm.1_Missense_Mutation_p.R230H	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN	vaccinia related kinase 3 isoform 1	461						nucleus	ATP binding|protein kinase activity			stomach(1)|skin(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGAGACACACGCAGATCCTG	0.572												
NAPSA	9476	broad.mit.edu	37	19	50861861	50861861	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:50861861G>A	uc002prx.2	-	9	1265	c.1212C>T	c.(1210-1212)CGC>CGT	p.R404R	NR1H2_uc002prv.3_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	napsin A preproprotein	404					proteolysis	extracellular region	aspartic-type endopeptidase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GGTCCGCTCCGCGAGTGCGAG	0.697												
KLK4	9622	broad.mit.edu	37	19	51410327	51410327	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:51410327G>C	uc002pua.1	-	5	628	c.628C>G	c.(628-630)CCC>GCC	p.P210A	KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_Missense_Mutation_p.P115A|KLK4_uc002puc.1_RNA	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4 preproprotein	210	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CAGATCAGGGGCCCCCCAGAG	0.527												
KLK8	11202	broad.mit.edu	37	19	51503767	51503767	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:51503767G>A	uc002pur.1	-	3	322	c.143C>T	c.(142-144)GCG>GTG	p.A48V	KLK9_uc002puw.1_RNA|KLK8_uc002puq.1_Missense_Mutation_p.A93V|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Missense_Mutation_p.A48V|KLK9_uc002puv.1_Intron	NM_007196	NP_009127	O60259	KLK8_HUMAN	kallikrein 8 isoform 1 preproprotein	48	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)	1		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GAACAAGGCCGCCTGCCAAGG	0.597												
FPR1	2357	broad.mit.edu	37	19	52249649	52249649	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:52249649A>G	uc002pxq.2	-	2	694	c.599T>C	c.(598-600)GTG>GCG	p.V200A		NM_002029	NP_002020	P21462	FPR1_HUMAN	formyl peptide receptor 1	200	Extracellular (Potential).				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			ovary(1)|lung(1)|skin(1)	3		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GATGCCTCTCACCGTCAACAT	0.512												
ZNF611	81856	broad.mit.edu	37	19	53217351	53217351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:53217351G>A	uc002pzz.2	-	6	424	c.107C>T	c.(106-108)GCA>GTA	p.A36V	ZNF611_uc010eqc.2_5'UTR|ZNF611_uc010ydo.1_Intron|ZNF611_uc010ydr.1_Intron|ZNF611_uc010ydp.1_Missense_Mutation_p.A36V|ZNF611_uc010ydq.1_Missense_Mutation_p.A36V|ZNF611_uc002qaa.3_5'UTR	NM_030972	NP_112234	Q8N823	ZN611_HUMAN	zinc finger protein 611 isoform a	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TTTCCACTCTGCCAATGAGAA	0.448												
VN1R2	317701	broad.mit.edu	37	19	53762612	53762612	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:53762612C>T	uc002qbi.2	+	1	1068	c.984C>T	c.(982-984)TAC>TAT	p.Y328Y		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	328	Helical; Name=6; (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		CATTATGTTACGCCCTTTCCT	0.443												
VN1R2	317701	broad.mit.edu	37	19	53762736	53762736	+	Missense_Mutation	SNP	C	C	A	rs141012802	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:53762736C>A	uc002qbi.2	+	1	1192	c.1108C>A	c.(1108-1110)CGT>AGT	p.R370S		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	370	Cytoplasmic (Potential).				response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity				0				GBM - Glioblastoma multiforme(134;0.00301)		TCTCATGTGCCGTGACCCCAG	0.428												
LILRB5	10990	broad.mit.edu	37	19	54758702	54758702	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:54758702G>A	uc002qex.2	-	6	1262	c.1151C>T	c.(1150-1152)CCT>CTT	p.P384L	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.P375L|LILRB5_uc002qey.2_Missense_Mutation_p.P384L|LILRB5_uc002qez.2_Missense_Mutation_p.P284L|LILRB5_uc002qfa.1_Missense_Mutation_p.P274L|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	384	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGTCACAGGACTCATGGA	0.557												
NLRP2	55655	broad.mit.edu	37	19	55489190	55489190	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:55489190A>C	uc002qij.2	+	4	482	c.396A>C	c.(394-396)CAA>CAC	p.Q132H	NLRP2_uc010yfp.1_Missense_Mutation_p.Q109H|NLRP2_uc010esn.2_Intron|NLRP2_uc010eso.2_Missense_Mutation_p.Q132H|NLRP2_uc010esp.2_Missense_Mutation_p.Q132H	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	132					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGAAGCACAAGGTGGGTGTC	0.527												
TMEM190	147744	broad.mit.edu	37	19	55889219	55889219	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:55889219C>T	uc002qkt.1	+	4	288	c.270C>T	c.(268-270)GGC>GGT	p.G90G		NM_139172	NP_631911	Q8WZ59	TM190_HUMAN	transmembrane protein 190 precursor	90	Helical; (Potential).					integral to membrane					0	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGTGCAGCGGCCTCCTCCTCC	0.697												
NLRP9	338321	broad.mit.edu	37	19	56244332	56244332	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:56244332G>A	uc002qly.2	-	2	893	c.865C>T	c.(865-867)CAT>TAT	p.H289Y		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	289	NACHT.					cytoplasm	ATP binding			skin(4)|ovary(2)|breast(1)	7		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGTTTTGGATGCCGCAACATA	0.383												
ZNF667	63934	broad.mit.edu	37	19	56953331	56953331	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:56953331G>T	uc002qnd.2	-	5	1195	c.1033C>A	c.(1033-1035)CTG>ATG	p.L345M	ZNF667_uc010etl.2_Missense_Mutation_p.L127M|ZNF667_uc002qne.2_Missense_Mutation_p.L345M|ZNF667_uc010etm.2_Missense_Mutation_p.L288M	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	345	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		TGAAGCATCAGGGGTGAAATC	0.393												
ZNF548	147694	broad.mit.edu	37	19	57910578	57910578	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:57910578C>T	uc002qom.2	+	3	1173	c.923C>T	c.(922-924)CCG>CTG	p.P308L	ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.P311L	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGAAAGGCCGTATGAGTGC	0.448												
ZNF274	10782	broad.mit.edu	37	19	58723003	58723003	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:58723003C>T	uc002qrq.1	+	9	1389	c.930C>T	c.(928-930)ACC>ACT	p.T310T	ZNF274_uc002qrr.1_Silent_p.T278T|ZNF274_uc002qrs.1_Silent_p.T205T|ZNF274_uc010eum.1_Silent_p.T69T	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	310	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		CACAGAGGACCGAGTACCGCG	0.607												
ZNF324	25799	broad.mit.edu	37	19	58980632	58980632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:58980632G>A	uc002qsw.1	+	2	174	c.80G>A	c.(79-81)CGC>CAC	p.R27H	ZNF324_uc002qsx.1_5'Flank	NM_014347	NP_055162	O75467	Z324A_HUMAN	zinc finger protein 324	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCCCTGTACCGCCGCGTGATG	0.572												
RNF144A	9781	broad.mit.edu	37	2	7170255	7170255	+	Splice_Site	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:7170255A>G	uc002qys.2	+	8	1100	c.658_splice	c.e8-2	p.D220_splice	RNF144A_uc002qyt.2_Splice_Site_p.D69_splice	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144							Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCCCCTCACAGGATGATTTC	0.527												
SMC6	79677	broad.mit.edu	37	2	17922967	17922967	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:17922967A>G	uc002rco.2	-	4	446	c.150T>C	c.(148-150)AGT>AGC	p.S50S	SMC6_uc010exo.2_Silent_p.S50S|SMC6_uc002rcn.2_Silent_p.S50S|SMC6_uc002rcp.1_Silent_p.S50S|SMC6_uc002rcq.2_Silent_p.S50S|SMC6_uc002rcr.1_Silent_p.S50S	NM_001142286	NP_001135758	Q96SB8	SMC6_HUMAN	SMC6 protein	50					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAGGTGAATACTCTCAATTA	0.328												
MSGN1	343930	broad.mit.edu	37	2	17998310	17998310	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:17998310C>T	uc010yjt.1	+	1	525	c.525C>T	c.(523-525)ATC>ATT	p.I175I		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	mesogenin 1	175	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAAGTACATCGGGGAACTCA	0.597												
NT5C1B	93034	broad.mit.edu	37	2	18764262	18764262	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:18764262G>A	uc002rcz.2	-	7	1177	c.1073C>T	c.(1072-1074)GCA>GTA	p.A358V	NT5C1B_uc002rcy.2_Missense_Mutation_p.A358V|NT5C1B_uc010exr.2_Missense_Mutation_p.A300V|NT5C1B_uc010yju.1_Missense_Mutation_p.A298V|NT5C1B_uc002rda.2_Missense_Mutation_p.A298V|NT5C1B_uc010yjv.1_Missense_Mutation_p.A375V|NT5C1B_uc010yjw.1_Missense_Mutation_p.A341V|NT5C1B_uc010exs.2_Missense_Mutation_p.A360V	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN	5' nucleotidase, cytosolic IB isoform 1	358					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			skin(2)|ovary(1)	3	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATACTGTAGTGCCTGCAGGTT	0.463												
SDC1	6382	broad.mit.edu	37	2	20403769	20403769	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:20403769C>A	uc002rdo.1	-	3	731	c.432G>T	c.(430-432)ACG>ACT	p.T144T	SDC1_uc002rdp.1_Silent_p.T144T|SDC1_uc010exv.2_Silent_p.T144T|SDC1_uc010exw.1_RNA	NM_002997	NP_002988	P18827	SDC1_HUMAN	syndecan 1 precursor	144	Extracellular (Potential).				lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			ovary(4)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GCTCCTGGGCCGTGGTGGCTG	0.687												
C2orf44	80304	broad.mit.edu	37	2	24260710	24260710	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:24260710T>C	uc002rep.2	-	2	1786	c.1655A>G	c.(1654-1656)AAG>AGG	p.K552R	C2orf44_uc010eya.2_Missense_Mutation_p.K552R	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	hypothetical protein LOC80304 isoform 1	552							protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAAGTTTCCTTTTCACTTTG	0.473												
C2orf16	84226	broad.mit.edu	37	2	27805111	27805111	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:27805111T>C	uc002rkz.3	+	1	5723	c.5672T>C	c.(5671-5673)ATG>ACG	p.M1891T	ZNF512_uc010ylv.1_5'Flank|ZNF512_uc010ylw.1_5'Flank|ZNF512_uc002rlb.2_5'Flank|ZNF512_uc010ylx.1_5'Flank|ZNF512_uc002rlc.2_5'Flank|ZNF512_uc002rla.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	1891	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)					CCCTCCGGGATGAGGCAAGGG	0.592												
VIT	5212	broad.mit.edu	37	2	37041497	37041497	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:37041497G>T	uc002rpl.2	+	16	2296	c.2075G>T	c.(2074-2076)CGG>CTG	p.R692L	VIT_uc002rpm.2_Missense_Mutation_p.R670L|VIT_uc010ezv.2_Missense_Mutation_p.R648L|VIT_uc010ezw.2_Missense_Mutation_p.R649L	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	677						proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)				TCACAGCCTCGGAACTGAATT	0.522												
SLC8A1	6546	broad.mit.edu	37	2	40657163	40657163	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:40657163G>A	uc002rrx.2	-	1	282	c.258C>T	c.(256-258)GTC>GTT	p.V86V	SLC8A1_uc002rry.2_Silent_p.V86V|SLC8A1_uc002rrz.2_Silent_p.V86V|SLC8A1_uc002rsa.2_Silent_p.V86V|SLC8A1_uc002rsd.3_Silent_p.V86V|SLC8A1_uc002rsb.1_Silent_p.V86V|SLC8A1_uc010fan.1_Silent_p.V86V|SLC8A1_uc002rsc.1_Silent_p.V86V	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	86	Helical; (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GAAACATGTAGACCATGGCCA	0.403												
PLEKHH2	130271	broad.mit.edu	37	2	43958705	43958705	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:43958705C>T	uc010yny.1	+	19	2990	c.2907C>T	c.(2905-2907)TCC>TCT	p.S969S	PLEKHH2_uc002rtf.3_Silent_p.S968S	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	969	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTACCTTCCGAAGCCCTGC	0.328												
SIX3	6496	broad.mit.edu	37	2	45169750	45169750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:45169750G>A	uc002run.1	+	1	714	c.507G>A	c.(505-507)TGG>TGA	p.W169*		NM_005413	NP_005404	O95343	SIX3_HUMAN	SIX homeobox 3	169					visual perception	nucleus					0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGCCATGTGGCTCGAGGCGC	0.647												
SERTAD2	9792	broad.mit.edu	37	2	64863063	64863063	+	Nonstop_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:64863063A>C	uc002sde.1	-	2	1240	c.943T>G	c.(943-945)TAA>GAA	p.*315E		NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	315					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0						CCTGGGTCTTAGGACCCAACA	0.552												
ZNF638	27332	broad.mit.edu	37	2	71635329	71635329	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:71635329T>C	uc002shx.2	+	20	3532	c.3213T>C	c.(3211-3213)GGT>GGC	p.G1071G	ZNF638_uc010yqw.1_Silent_p.G650G|ZNF638_uc002shy.2_Silent_p.G1071G|ZNF638_uc002shz.2_Silent_p.G1071G|ZNF638_uc002sia.2_Silent_p.G1071G|ZNF638_uc002sib.1_Silent_p.G1071G|ZNF638_uc010fed.2_RNA|ZNF638_uc002sic.2_Silent_p.G168G	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	1071					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4						AAAATATTGGTGACCATATGT	0.333												
NAT8	9027	broad.mit.edu	37	2	73868171	73868171	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:73868171C>G	uc002sji.1	-	2	752	c.585G>C	c.(583-585)AAG>AAC	p.K195N		NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8	195	N-acetyltransferase.				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			ovary(1)	1						ACTGGCCCGTCTTCTTGAAGC	0.542												
MOBKL1B	55233	broad.mit.edu	37	2	74386330	74386330	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:74386330C>T	uc002skh.3	-	5	655	c.461G>A	c.(460-462)CGT>CAT	p.R154H		NM_018221	NP_060691	Q9H8S9	MOL1B_HUMAN	Mob4B protein	154					hippo signaling cascade		metal ion binding|protein binding				0						CCTGAACAGACGCTTTAGAAT	0.393												
CAPG	822	broad.mit.edu	37	2	85628441	85628441	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85628441C>T	uc002spl.1	-	5	613	c.363G>A	c.(361-363)GTG>GTA	p.V121V	CAPG_uc002spm.1_Silent_p.V121V|CAPG_uc010ysq.1_Silent_p.V121V|CAPG_uc010fgi.1_Silent_p.V121V|CAPG_uc010fgj.1_Silent_p.V15V	NM_001747	NP_001738	P40121	CAPG_HUMAN	gelsolin-like capping protein	121					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding				0						ATGCTGACTCCACACCACCTT	0.602												
TMEM150A	129303	broad.mit.edu	37	2	85829045	85829045	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85829045G>A	uc002spw.1	-	1	748	c.27C>T	c.(25-27)GTC>GTT	p.V9V	USP39_uc002sqb.2_5'Flank|TMEM150A_uc002spx.1_5'UTR|TMEM150A_uc002spz.1_5'UTR|TMEM150A_uc002sqa.1_5'UTR|TMEM150A_uc002spy.1_Silent_p.V9V	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	transmembrane protein 150A isoform 1	9						integral to membrane|plasma membrane					0						CTGACAGGCTGACAGGCAGGA	0.612												
SFTPB	6439	broad.mit.edu	37	2	85890528	85890528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85890528G>A	uc002sqh.2	-	8	949	c.943C>T	c.(943-945)CAG>TAG	p.Q315*	SFTPB_uc002sqi.2_Nonsense_Mutation_p.Q323*|SFTPB_uc002sqj.2_Nonsense_Mutation_p.Q315*|SFTPB_uc010ysw.1_5'Flank	NM_198843	NP_942140	P07988	PSPB_HUMAN	surfactant, pulmonary-associated protein B	315	Saposin B-type 3.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				ovary(1)|central_nervous_system(1)	2						GGTATGGCCTGCTCGCTGCTG	0.632												
POLR1A	25885	broad.mit.edu	37	2	86305040	86305040	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:86305040G>A	uc002sqs.2	-	11	1701	c.1322C>T	c.(1321-1323)GCG>GTG	p.A441V		NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	441					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						GACTGAGCGCGCAGCGTAGTC	0.353												
VPS24	51652	broad.mit.edu	37	2	86756342	86756342	+	Silent	SNP	G	G	T	rs140980165		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:86756342G>T	uc002srj.2	-	3	414	c.285C>A	c.(283-285)CTC>CTA	p.L95L	VPS24_uc002srk.2_Silent_p.L29L|VPS24_uc002srl.2_Intron|VPS24_uc010ytl.1_Silent_p.L124L	NM_016079	NP_057163	Q9Y3E7	CHMP3_HUMAN	vacuolar protein sorting 24 isoform 1	95	Intramolecular interaction with C- terminus.				cell cycle|cell division|cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)	1						CAGCCTTACCGAGCTGGTTCT	0.468												
ZNF514	84874	broad.mit.edu	37	2	95818899	95818899	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:95818899A>C	uc002sue.1	-	3	474	c.100T>G	c.(100-102)TTC>GTC	p.F34V	ZNF514_uc002sud.1_Missense_Mutation_p.F107V	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	zinc finger protein 514	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AAGTTCCTGAAGTTCTCCAGC	0.532												
PROM2	150696	broad.mit.edu	37	2	95947910	95947910	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:95947910C>T	uc002suh.1	+	14	1797	c.1664C>T	c.(1663-1665)GCG>GTG	p.A555V	PROM2_uc002sui.2_Missense_Mutation_p.A555V|PROM2_uc002suj.2_Missense_Mutation_p.A209V|PROM2_uc002suk.2_Missense_Mutation_p.A555V|PROM2_uc002sul.2_Missense_Mutation_p.A81V|PROM2_uc002sum.2_RNA	NM_144707	NP_653308	Q8N271	PROM2_HUMAN	prominin 2 precursor	555	Extracellular (Potential).					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				ovary(1)	1						GAAGGGGCAGCGCTCTGGACA	0.627												
SNRNP200	23020	broad.mit.edu	37	2	96956091	96956091	+	Silent	SNP	G	G	A	rs138641050		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:96956091G>A	uc002svu.2	-	20	2801	c.2715C>T	c.(2713-2715)ATC>ATT	p.I905I	SNRNP200_uc002svw.1_5'Flank	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	905	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.I905I(1)		ovary(5)|skin(4)|large_intestine(1)	10						TTCCTAGCACGATTTCTGCAT	0.512												
ZAP70	7535	broad.mit.edu	37	2	98351166	98351166	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:98351166G>A	uc002syd.1	+	9	1280	c.1073G>A	c.(1072-1074)CGC>CAC	p.R358H	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R248H|ZAP70_uc002syf.1_Missense_Mutation_p.R51H	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	358	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						GGCGTGTACCGCATGCGCAAG	0.637												
TSGA10	80705	broad.mit.edu	37	2	99721883	99721883	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:99721883G>A	uc002szg.3	-	7	1026	c.398C>T	c.(397-399)GCA>GTA	p.A133V	TSGA10_uc002szh.3_Missense_Mutation_p.A133V|TSGA10_uc002szi.3_Missense_Mutation_p.A133V|TSGA10_uc010fin.1_Missense_Mutation_p.A133V|TSGA10_uc010yvn.1_Missense_Mutation_p.A133V	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	testis specific, 10	133					spermatogenesis	cytoplasm|nuclear membrane				ovary(1)|central_nervous_system(1)	2						CTCATTAAATGCTGTCTCTTG	0.308												
TBC1D8	11138	broad.mit.edu	37	2	101624428	101624428	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:101624428A>G	uc010fiv.2	-	20	3409	c.3278T>C	c.(3277-3279)CTG>CCG	p.L1093P	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.3_Missense_Mutation_p.L850P	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	1093					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3						CTGTTCAGTCAGAAGTGAAGC	0.433												
GCC2	9648	broad.mit.edu	37	2	109088197	109088197	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:109088197T>C	uc002tec.2	+	6	2566	c.2412T>C	c.(2410-2412)CGT>CGC	p.R804R	GCC2_uc002ted.2_Silent_p.R703R	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain-containing 2	804	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						CTTTTCAGCGTGATGAAAAAG	0.378												
RANBP2	5903	broad.mit.edu	37	2	109380502	109380502	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:109380502T>C	uc002tem.3	+	20	3633	c.3507T>C	c.(3505-3507)GGT>GGC	p.G1169G		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	1169					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18						ATGATGACGGTCCTCACTTTG	0.438												
CCDC93	54520	broad.mit.edu	37	2	118764370	118764370	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:118764370C>T	uc002tlj.2	-	3	305	c.179G>A	c.(178-180)TGT>TAT	p.C60Y	CCDC93_uc010fld.1_Missense_Mutation_p.C60Y	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	60										large_intestine(1)|ovary(1)	2						AGTGGTGATACACCAAGTCAT	0.348												
GLI2	2736	broad.mit.edu	37	2	121747109	121747109	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:121747109C>T	uc010flp.2	+	13	3649	c.3619C>T	c.(3619-3621)CCC>TCC	p.P1207S	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Missense_Mutation_p.P879S|GLI2_uc002tmu.3_Missense_Mutation_p.P862S	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1207					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)				ACACCTGCAGCCCCGCAGCGG	0.667												
R3HDM1	23518	broad.mit.edu	37	2	136481597	136481597	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:136481597G>A	uc002tuo.2	+	26	3405	c.3035G>A	c.(3034-3036)GGC>GAC	p.G1012D	R3HDM1_uc010fni.2_Missense_Mutation_p.G1011D|R3HDM1_uc002tup.2_Missense_Mutation_p.G957D|R3HDM1_uc010zbh.1_Missense_Mutation_p.G760D	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	1012							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTTAAAATTGGCGCCAAGATC	0.512												
LCT	3938	broad.mit.edu	37	2	136566593	136566593	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:136566593G>A	uc002tuu.1	-	8	3335	c.3324C>T	c.(3322-3324)TAC>TAT	p.Y1108Y		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1108	3.|Extracellular (Potential).|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATTTCTCATCGTACGTGTGAT	0.582												
MCM6	4175	broad.mit.edu	37	2	136614442	136614442	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:136614442G>A	uc002tuw.2	-	11	1558	c.1482C>T	c.(1480-1482)AAC>AAT	p.N494N		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	494	MCM.				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|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ACGTCCGGGCGTTCAGAGTAG	0.294												
LRP1B	53353	broad.mit.edu	37	2	141130589	141130589	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:141130589T>G	uc002tvj.1	-	69	11728	c.10756A>C	c.(10756-10758)AGC>CGC	p.S3586R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3586	Extracellular (Potential).|LDL-receptor class A 27.				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)		GGCTCACAGCTTTTCTCATCT	0.368										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	141272329	141272329	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:141272329G>T	uc002tvj.1	-	51	9134	c.8162C>A	c.(8161-8163)TCT>TAT	p.S2721Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2721	Extracellular (Potential).|LDL-receptor class A 16.				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)		TTGGTTCCAAGAGCAAGAAGA	0.303										TSP Lung(27;0.18)		
MBD5	55777	broad.mit.edu	37	2	149247765	149247765	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:149247765C>T	uc002twm.3	+	12	4853	c.3865C>T	c.(3865-3867)CAC>TAC	p.H1289Y	MBD5_uc010zbs.1_Intron|MBD5_uc010fns.2_Missense_Mutation_p.H1289Y|MBD5_uc002two.2_Missense_Mutation_p.H547Y|MBD5_uc002twp.2_Missense_Mutation_p.H339Y	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1289						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AAGATGTGCACACATAAATGG	0.428												
RIF1	55183	broad.mit.edu	37	2	152320331	152320331	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:152320331G>T	uc002txm.2	+	30	4427	c.4297G>T	c.(4297-4299)GAT>TAT	p.D1433Y	RIF1_uc002txl.2_Missense_Mutation_p.D1433Y|RIF1_uc002txn.2_Missense_Mutation_p.D1433Y|RIF1_uc002txo.2_Missense_Mutation_p.D1433Y|RIF1_uc002txp.2_RNA	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	RAP1 interacting factor 1	1433					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGAAAGCCAAGATAAGGAAAA	0.383												
FMNL2	114793	broad.mit.edu	37	2	153471416	153471416	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:153471416C>A	uc002tye.2	+	12	1481	c.1114C>A	c.(1114-1116)CTG>ATG	p.L372M		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	formin-like 2	372	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|ovary(1)	3						CCAGGCTTACCTGGACAATGT	0.428												
RPRM	56475	broad.mit.edu	37	2	154334842	154334842	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:154334842G>A	uc002tyq.1	-	1	481	c.238C>T	c.(238-240)CTG>TTG	p.L80L		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	reprimo, TP53 dependant G2 arrest mediator	80					cell cycle arrest	cytoplasm|integral to membrane	protein binding				0						TTGATGAGCAGATTGCAGCCG	0.607												
GALNT13	114805	broad.mit.edu	37	2	155252628	155252628	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:155252628T>C	uc002tyr.3	+	10	1849	c.1282T>C	c.(1282-1284)TAC>CAC	p.Y428H	GALNT13_uc002tyt.3_Missense_Mutation_p.Y428H|GALNT13_uc010foc.1_Missense_Mutation_p.Y247H|GALNT13_uc010fod.2_Missense_Mutation_p.Y181H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	428	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						AAGACGTTATTACTCACTTGG	0.338												
TANC1	85461	broad.mit.edu	37	2	159922470	159922470	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:159922470C>T	uc002uag.2	+	3	322	c.48C>T	c.(46-48)GGC>GGT	p.G16G	TANC1_uc010fol.1_Silent_p.G16G|TANC1_uc010zcm.1_Silent_p.G16G|TANC1_uc010fom.1_Silent_p.G16G	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and	16						cell junction|postsynaptic density|postsynaptic membrane	binding			ovary(2)|central_nervous_system(1)	3						GAAAGGGAGGCAAGAAGGAAG	0.488												
TTC21B	79809	broad.mit.edu	37	2	166747442	166747442	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:166747442C>T	uc002udk.2	-	23	3140	c.3007G>A	c.(3007-3009)GAG>AAG	p.E1003K	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1003						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5						GGGACATCCTCGAGTTTTCCA	0.348												
SCN9A	6335	broad.mit.edu	37	2	167133718	167133718	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:167133718G>A	uc010fpl.2	-	16	2957	c.2616C>T	c.(2614-2616)GTC>GTT	p.V872V	uc002udp.2_RNA	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	883	II.|Helical; Name=S5 of repeat II; (Potential).					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTGCATGCCGACCACAGCAA	0.463												
CHRNA1	1134	broad.mit.edu	37	2	175618367	175618367	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:175618367G>A	uc002ujd.2	-	7	795	c.717C>T	c.(715-717)CCC>CCT	p.P239P	uc002uiw.2_Intron|CHRNA1_uc002uje.2_Silent_p.P214P|CHRNA1_uc002ujf.3_Silent_p.P214P	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	nicotinic cholinergic receptor alpha 1 isoform a	239	Extracellular.				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(2)|central_nervous_system(1)|skin(1)	4						AGGGGGTGTCGGGGCAGCAGG	0.592												
OSBPL6	114880	broad.mit.edu	37	2	179247806	179247806	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:179247806G>A	uc002ulx.2	+	17	2055	c.1677G>A	c.(1675-1677)CTG>CTA	p.L559L	OSBPL6_uc002uly.2_Silent_p.L584L|OSBPL6_uc010zfe.1_Silent_p.L528L|OSBPL6_uc002ulz.2_Silent_p.L523L|OSBPL6_uc002uma.2_Silent_p.L563L	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	oxysterol-binding protein-like protein 6 isoform	559					lipid transport		lipid binding			pancreas(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGCATGCCTGCCAGCTCCTT	0.493												
TTN	7273	broad.mit.edu	37	2	179645895	179645895	+	Missense_Mutation	SNP	C	C	T	rs149883066		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:179645895C>T	uc010zfg.1	-	21	3700	c.3476G>A	c.(3475-3477)CGC>CAC	p.R1159H	TTN_uc010zfh.1_Missense_Mutation_p.R1113H|TTN_uc010zfi.1_Missense_Mutation_p.R1113H|TTN_uc010zfj.1_Missense_Mutation_p.R1113H|TTN_uc002unb.2_Missense_Mutation_p.R1159H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1159							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)			ATGCTTATTGCGAACAACAAT	0.388												
WDR75	84128	broad.mit.edu	37	2	190320086	190320086	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:190320086A>G	uc002uql.1	+	5	474	c.414A>G	c.(412-414)TCA>TCG	p.S138S	WDR75_uc002uqm.1_Silent_p.S74S|WDR75_uc002uqn.1_5'UTR|WDR75_uc002uqo.1_5'Flank	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	138						nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			CAAAATCCTCAAGCCAGGAAG	0.388												
WDR75	84128	broad.mit.edu	37	2	190329974	190329974	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:190329974C>T	uc002uql.1	+	12	1343	c.1283C>T	c.(1282-1284)ACA>ATA	p.T428I	WDR75_uc002uqm.1_Missense_Mutation_p.T364I|WDR75_uc002uqn.1_Missense_Mutation_p.T206I|WDR75_uc002uqo.1_Missense_Mutation_p.T206I	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	428						nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AATAAGAAAACACAAGGGTAA	0.348												
NAB1	4664	broad.mit.edu	37	2	191524622	191524622	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:191524622T>C	uc002usb.2	+	4	1292	c.720T>C	c.(718-720)GAT>GAC	p.D240D	NAB1_uc010fsc.2_Silent_p.D240D|NAB1_uc010fsd.2_Silent_p.D240D|NAB1_uc002usc.2_Silent_p.D240D|NAB1_uc010zgh.1_Silent_p.D240D	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	240	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			AGATGAACGATGATGATCCAC	0.418												
SF3B1	23451	broad.mit.edu	37	2	198262811	198262811	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:198262811C>A	uc002uue.2	-	22	3212	c.3164G>T	c.(3163-3165)TGG>TTG	p.W1055L		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1055	HEAT 9.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATCCTCATCCACTCTCTTGC	0.333												
BZW1	9689	broad.mit.edu	37	2	201681849	201681849	+	Silent	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:201681849T>G	uc010zhg.1	+	6	571	c.519T>G	c.(517-519)GGT>GGG	p.G173G	BZW1_uc002uwc.2_Silent_p.G141G|BZW1_uc010zhh.1_Silent_p.G141G	NM_014670	NP_055485	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding				0						TCTTGAAGGGTTTTTCAGAGT	0.373												
WDR12	55759	broad.mit.edu	37	2	203745590	203745590	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:203745590C>T	uc002uzl.2	-	13	2015	c.1265G>A	c.(1264-1266)GGG>GAG	p.G422E	WDR12_uc010ftt.2_3'UTR	NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	WD repeat domain 12 protein	422	Sufficient for nucleolar localization.|WD 7.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0						CTTTCATGCCCCAACATGGGA	0.368												
PIKFYVE	200576	broad.mit.edu	37	2	209198113	209198113	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:209198113T>C	uc002vcz.2	+	24	4196	c.4038T>C	c.(4036-4038)TAT>TAC	p.Y1346Y	PIKFYVE_uc002vcy.1_Silent_p.Y1290Y	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1346					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						TTAGGTTTTATGGGCACCAGT	0.438												
MAP2	4133	broad.mit.edu	37	2	210560646	210560646	+	Missense_Mutation	SNP	G	G	A	rs142649637	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:210560646G>A	uc002vde.1	+	7	4000	c.3752G>A	c.(3751-3753)CGC>CAC	p.R1251H	MAP2_uc002vdc.1_Missense_Mutation_p.R1251H|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.R1247H	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1251					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)	CTGCTCTTCCGCTCAGACACC	0.488												
ERBB4	2066	broad.mit.edu	37	2	212251610	212251610	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:212251610T>C	uc002veg.1	-	27	3547	c.3449A>G	c.(3448-3450)TAC>TGC	p.Y1150C	ERBB4_uc002veh.1_Missense_Mutation_p.Y1134C|ERBB4_uc010zji.1_Missense_Mutation_p.Y1140C|ERBB4_uc010zjj.1_Missense_Mutation_p.Y1124C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	1150	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)		AGGAGTCATGTAACCTTCCTC	0.498										TSP Lung(8;0.080)		
ABCA12	26154	broad.mit.edu	37	2	215823125	215823125	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:215823125G>A	uc002vew.2	-	41	6213	c.5993C>T	c.(5992-5994)TCT>TTT	p.S1998F	ABCA12_uc002vev.2_Missense_Mutation_p.S1680F|ABCA12_uc010zjn.1_Missense_Mutation_p.S925F	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1998	Helical; (Potential).				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGTGGTGACAGAGTAGCCCAT	0.438												
FN1	2335	broad.mit.edu	37	2	216236932	216236932	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216236932C>A	uc002vfa.2	-	40	6680	c.6414G>T	c.(6412-6414)GGG>GGT	p.G2138G	FN1_uc002vfb.2_Silent_p.G1957G|FN1_uc002vfc.2_Silent_p.G1932G|FN1_uc002vfd.2_Silent_p.G2113G|FN1_uc002vfe.2_Silent_p.G2047G|FN1_uc002vff.2_Silent_p.G2022G|FN1_uc002vfg.2_Silent_p.G1957G|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Silent_p.G2138G|FN1_uc002vfj.2_Intron|FN1_uc002vez.2_Silent_p.G332G|FN1_uc010zjp.1_Silent_p.G675G|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Silent_p.G229G	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	2047	Connecting strand 3 (CS-3) (V region).				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)	TCATTTGTTGCCCAACACTGG	0.532												
FN1	2335	broad.mit.edu	37	2	216249629	216249629	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216249629A>G	uc002vfa.2	-	29	4949	c.4683T>C	c.(4681-4683)GCT>GCC	p.A1561A	FN1_uc002vfb.2_Silent_p.A1470A|FN1_uc002vfc.2_Silent_p.A1470A|FN1_uc002vfd.2_Silent_p.A1561A|FN1_uc002vfe.2_Silent_p.A1470A|FN1_uc002vff.2_Silent_p.A1470A|FN1_uc002vfg.2_Silent_p.A1470A|FN1_uc002vfh.2_Silent_p.A1470A|FN1_uc002vfi.2_Silent_p.A1561A|FN1_uc002vfj.2_Silent_p.A1561A|FN1_uc002vez.2_5'UTR|FN1_uc010zjp.1_Silent_p.A188A|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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)	TGACAGCAGGAGCATCCCAGC	0.448												
TMEM169	92691	broad.mit.edu	37	2	216960851	216960851	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216960851C>T	uc010zjr.1	+	3	491	c.165C>T	c.(163-165)TAC>TAT	p.Y55Y	TMEM169_uc010zjs.1_Silent_p.Y55Y|TMEM169_uc002vfw.2_Silent_p.Y55Y|TMEM169_uc002vfv.3_Silent_p.Y55Y	NM_001142310	NP_001135782	Q96HH4	TM169_HUMAN	transmembrane protein 169	55	Extracellular (Potential).					integral to membrane				ovary(1)	1		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCATCTACCGCTCAGACA	0.527												
XRCC5	7520	broad.mit.edu	37	2	216992311	216992311	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:216992311T>A	uc002vfy.2	+	8	991	c.851T>A	c.(850-852)CTA>CAA	p.L284Q	XRCC5_uc002vfz.2_Missense_Mutation_p.L170Q	NM_021141	NP_066964	P13010	XRCC5_HUMAN	ATP-dependent DNA helicase II	284	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			lung(1)|kidney(1)	2		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCAAAAACCCTAAAAAAAGAA	0.313								Direct_reversal_of_damage|NHEJ				
NHEJ1	79840	broad.mit.edu	37	2	219941148	219941148	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:219941148C>T	uc002vjp.3	-	8	1001	c.855G>A	c.(853-855)CAG>CAA	p.Q285Q	NHEJ1_uc002vjq.3_RNA	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	285					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			lung(1)	1		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		CCTTTGACAGCTGAGGTCTCT	0.468								Direct_reversal_of_damage|NHEJ				
PAX3	5077	broad.mit.edu	37	2	223086050	223086050	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:223086050C>T	uc010fwo.2	-	6	1215	c.849G>A	c.(847-849)CTG>CTA	p.L283L	PAX3_uc002vmt.1_Silent_p.L283L|PAX3_uc002vmy.1_Silent_p.L282L|PAX3_uc002vmv.1_Silent_p.L283L|PAX3_uc002vmw.1_Silent_p.L283L|PAX3_uc002vmx.1_Silent_p.L283L	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	283					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAAAGCCATCAGTTGATTGG	0.493			T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
ARMC9	80210	broad.mit.edu	37	2	232156155	232156155	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:232156155C>T	uc002vrq.3	+	18	1828	c.1716C>T	c.(1714-1716)TCC>TCT	p.S572S	ARMC9_uc002vrp.3_Silent_p.S572S|ARMC9_uc002vrr.1_RNA	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	572							binding			ovary(1)	1		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		AGCTAAATTCCGGTCAGTTTG	0.378												
ECEL1	9427	broad.mit.edu	37	2	233348873	233348873	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:233348873C>T	uc002vsv.2	-	7	1450	c.1245G>A	c.(1243-1245)CCG>CCA	p.P415P	ECEL1_uc010fya.1_Silent_p.P415P|ECEL1_uc010fyb.1_Silent_p.P122P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	415	Lumenal (Potential).				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	p.P415L(1)		central_nervous_system(2)	2		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACGGAATGGCGGGGACAGGT	0.647												
AGAP1	116987	broad.mit.edu	37	2	236817445	236817445	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:236817445G>A	uc002vvs.2	+	11	1814	c.1219G>A	c.(1219-1221)GGG>AGG	p.G407R	AGAP1_uc002vvt.2_Missense_Mutation_p.G407R	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	407	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3						GAAAGTCCCAGGGAAGAGGCC	0.473												
COL6A3	1293	broad.mit.edu	37	2	238262045	238262045	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:238262045C>T	uc002vwl.2	-	25	6914	c.6629G>A	c.(6628-6630)GGC>GAC	p.G2210D	COL6A3_uc002vwo.2_Missense_Mutation_p.G2004D|COL6A3_uc010znj.1_Missense_Mutation_p.G1603D|COL6A3_uc002vwp.1_Missense_Mutation_p.G31D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2210	Triple-helical region.|Collagen-like 3.				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)		GCCCTTGTTGCCCTTTGAAAT	0.547												
LRRFIP1	9208	broad.mit.edu	37	2	238668757	238668757	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:238668757C>T	uc002vxe.2	+	10	1090	c.798C>T	c.(796-798)TCC>TCT	p.S266S	LRRFIP1_uc002vxc.2_Silent_p.S456S|LRRFIP1_uc010znm.1_Silent_p.S210S|LRRFIP1_uc002vxd.2_Silent_p.S242S|LRRFIP1_uc002vxf.2_Silent_p.S210S	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting	266					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			breast(3)	3		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		GAGAGACTTCCGACACCCTCA	0.398												
PER2	8864	broad.mit.edu	37	2	239162026	239162026	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:239162026C>T	uc002vyc.2	-	19	2875	c.2638G>A	c.(2638-2640)GCT>ACT	p.A880T	PER2_uc010znv.1_Missense_Mutation_p.A880T	NM_022817	NP_073728	O15055	PER2_HUMAN	period 2	880	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		ACGGGCACAGCAGGCACTGTG	0.632												
MYEOV2	150678	broad.mit.edu	37	2	241066248	241066248	+	Missense_Mutation	SNP	G	G	A	rs137993079		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:241066248G>A	uc002vyu.1	-	5	491	c.491C>T	c.(490-492)CCG>CTG	p.P164L		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		GCCACACAGCGGATGTTCTCT	0.532												
TMC2	117532	broad.mit.edu	37	20	2593878	2593878	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:2593878G>A	uc002wgf.1	+	14	1797	c.1782G>A	c.(1780-1782)ACG>ACA	p.T594T	TMC2_uc002wgg.1_Silent_p.T578T|TMC2_uc010zpw.1_Silent_p.T426T|TMC2_uc010zpx.1_Silent_p.T425T	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	594	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3						TGCTGGTAACGTACATCACCA	0.557												
ISM1	140862	broad.mit.edu	37	20	13273089	13273089	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:13273089G>A	uc010gce.1	+	5	862	c.856G>A	c.(856-858)GCC>ACC	p.A286T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	286						extracellular region					0						GGAGTTTAATGCCACCAAACT	0.408												
SEL1L2	80343	broad.mit.edu	37	20	13971151	13971151	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:13971151T>C	uc010gcf.2	-	1	112	c.30A>G	c.(28-30)ATA>ATG	p.I10M	SEL1L2_uc002woq.3_Translation_Start_Site|SEL1L2_uc010zrl.1_Missense_Mutation_p.I10M|SEL1L2_uc002wor.2_Intron	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 precursor	10						integral to membrane	binding			ovary(2)	2						GAATTATCAATATCTCTATTA	0.423												
MACROD2	140733	broad.mit.edu	37	20	13976403	13976403	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:13976403C>T	uc002wou.2	+	1	258	c.-6C>T	c.(-8--4)CACGG>CATGG		MACROD2_uc002wot.2_Translation_Start_Site|SEL1L2_uc002wor.2_5'Flank|MACROD2_uc002wos.2_RNA	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1												0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCCACCCCCACGGCAACATGT	0.443												
PCSK2	5126	broad.mit.edu	37	20	17462302	17462302	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:17462302C>T	uc002wpm.2	+	12	1824	c.1504C>T	c.(1504-1506)CGC>TGC	p.R502C	PCSK2_uc002wpl.2_Missense_Mutation_p.R483C|PCSK2_uc010zrm.1_Missense_Mutation_p.R467C|PCSK2_uc002wpn.2_Missense_Mutation_p.R156C	NM_002594	NP_002585	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	502					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	7					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAATTTTGTCCGCTACCTGGA	0.517												
SNX5	27131	broad.mit.edu	37	20	17937586	17937586	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:17937586C>T	uc002wqc.2	-	2	233	c.147G>A	c.(145-147)GTG>GTA	p.V49V	SNX5_uc002wqb.2_RNA|SNX5_uc002wqd.2_Silent_p.V49V|SNX5_uc002wqe.2_5'UTR|SNX5_uc010zrt.1_Silent_p.V49V	NM_014426	NP_055241	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	49	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			large_intestine(1)	1						CCTTTGTGTGCACTGTAAATT	0.438												
C20orf72	92667	broad.mit.edu	37	20	17956339	17956339	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:17956339A>G	uc002wqh.2	+	3	606	c.524A>G	c.(523-525)CAA>CGA	p.Q175R	C20orf72_uc010gco.2_Intron|C20orf72_uc010gcp.2_RNA	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	hypothetical protein LOC92667	175											0						GTCTTTTTACAAGGGAAACGG	0.408												
RALGAPA2	57186	broad.mit.edu	37	20	20493316	20493316	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:20493316C>T	uc002wrz.2	-	32	4840	c.4697G>A	c.(4696-4698)CGC>CAC	p.R1566H	RALGAPA2_uc010gcx.2_Missense_Mutation_p.R1270H|RALGAPA2_uc010zsg.1_Missense_Mutation_p.R1014H|RALGAPA2_uc002wsa.1_Missense_Mutation_p.R338H	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1566					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1						AGCATTTTGGCGCAAAATGAC	0.473												
GGTLC1	92086	broad.mit.edu	37	20	23965921	23965921	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:23965921C>T	uc002wts.2	-	6	743	c.610G>A	c.(610-612)GTC>ATC	p.V204I	GGTLC1_uc002wtu.2_Missense_Mutation_p.V204I	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	204							gamma-glutamyltransferase activity			ovary(1)	1						GCCATGCGGACGATGGCTTGC	0.622												
HCK	3055	broad.mit.edu	37	20	30659469	30659469	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:30659469G>A	uc002wxh.2	+	2	238	c.67G>A	c.(67-69)GGG>AGG	p.G23R	HCK_uc010gdy.2_Missense_Mutation_p.G2R|HCK_uc002wxi.2_Missense_Mutation_p.G2R	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	23				G->A: Myristoylation and palmitoylation are abolished, cytoplasmic and no calveolar localization; in isoform p59- HCK.	interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGCAGGATGGGGTGCATGAA	0.587												
KIAA0406	9675	broad.mit.edu	37	20	36640099	36640099	+	Missense_Mutation	SNP	C	C	T	rs141770247	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:36640099C>T	uc002xhl.2	-	3	2329	c.2120G>A	c.(2119-2121)CGT>CAT	p.R707H	KIAA0406_uc002xhm.2_Missense_Mutation_p.R707H	NM_014657	NP_055472	O43156	TTI1_HUMAN	hypothetical protein LOC9675	707							binding				0		Myeloproliferative disorder(115;0.00874)				AGCCAGATGACGCAGATTTAA	0.483												
LPIN3	64900	broad.mit.edu	37	20	39986566	39986566	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:39986566T>C	uc002xjx.2	+	17	2175	c.2084T>C	c.(2083-2085)ATG>ACG	p.M695T	LPIN3_uc010ggh.2_Missense_Mutation_p.M696T|LPIN3_uc010zwf.1_RNA	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	lipin 3	695	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(115;0.000739)				GCCATTGGCATGGCGGACCTC	0.632												
CHD6	84181	broad.mit.edu	37	20	40033290	40033290	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:40033290T>C	uc002xka.1	-	37	8269	c.8091A>G	c.(8089-8091)GAA>GAG	p.E2697E	CHD6_uc002xjz.1_Silent_p.E234E	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2697					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14		Myeloproliferative disorder(115;0.00425)				GTGCCCCATGTTCTCTCTCTG	0.522												
PTPRT	11122	broad.mit.edu	37	20	40727077	40727077	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:40727077T>A	uc002xkg.2	-	27	4014	c.3830A>T	c.(3829-3831)GAG>GTG	p.E1277V	PTPRT_uc010ggj.2_Missense_Mutation_p.E1296V|PTPRT_uc010ggi.2_Missense_Mutation_p.E480V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1277	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				AGTGTCCATCTCATTCAGCAT	0.607												
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:40735471G>A	uc002xkg.2	-	24	3529	c.3345C>T	c.(3343-3345)TGC>TGT	p.C1115C	PTPRT_uc010ggj.2_Silent_p.C1134C|PTPRT_uc010ggi.2_Silent_p.C318C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1115	Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential).				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			skin(8)|ovary(7)|lung(5)	20		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582												
SERINC3	10955	broad.mit.edu	37	20	43138579	43138579	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:43138579G>A	uc002xme.2	-	5	700	c.566C>T	c.(565-567)TCA>TTA	p.S189L	SERINC3_uc002xmf.1_Missense_Mutation_p.S189L|SERINC3_uc010ggs.1_Missense_Mutation_p.S182L|SERINC3_uc010zwp.1_Missense_Mutation_p.S134L	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	189	Cytoplasmic (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATTTACCCATGATTCATTCCA	0.458												
ADA	100	broad.mit.edu	37	20	43248966	43248966	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:43248966T>C	uc002xmj.2	-	11	1180	c.1052A>G	c.(1051-1053)TAT>TGT	p.Y351C	ADA_uc010ggt.2_RNA	NM_000022	NP_000013	P00813	ADA_HUMAN	adenosine deaminase	351					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			pancreas(2)|ovary(1)	3		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGGCATCCCATAGGCTTTATA	0.537									Adenosine_Deaminase_Deficiency			
PREX1	57580	broad.mit.edu	37	20	47266542	47266542	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:47266542G>A	uc002xtw.1	-	24	3043	c.3020C>T	c.(3019-3021)CCG>CTG	p.P1007L	PREX1_uc002xtv.1_Missense_Mutation_p.P304L	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,	1007					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			ACCTTGCTCCGGGTCAAGGCC	0.448												
ZNFX1	57169	broad.mit.edu	37	20	47879934	47879934	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:47879934T>C	uc002xui.2	-	6	2485	c.2238A>G	c.(2236-2238)GAA>GAG	p.E746E		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	746							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGGTACTGTTCCCGTAGGA	0.522												
SPATA2	9825	broad.mit.edu	37	20	48523040	48523040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:48523040G>A	uc010gie.2	-	3	1029	c.679C>T	c.(679-681)CGA>TGA	p.R227*	SPATA2_uc002xuw.2_Nonsense_Mutation_p.R227*|SPATA2_uc010zyn.1_Nonsense_Mutation_p.R90*	NM_001135773	NP_001129245	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	227					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|skin(1)	2	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AGTGCCACTCGTGACATGGAG	0.672												
SNAI1	6615	broad.mit.edu	37	20	48600381	48600381	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:48600381T>A	uc002xuz.2	+	2	173	c.103T>A	c.(103-105)TAC>AAC	p.Y35N		NM_005985	NP_005976	O95863	SNAI1_HUMAN	snail 1 homolog	35					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCAGCAGCCCTACGACCAGGC	0.582												
FAM65C	140876	broad.mit.edu	37	20	49219090	49219090	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:49219090C>T	uc002xvm.2	-	13	1484	c.1166G>A	c.(1165-1167)CGG>CAG	p.R389Q	FAM65C_uc010zyt.1_Missense_Mutation_p.R393Q|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.R389Q	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	389										ovary(2)	2						GCTGGGACCCCGGAGGTCGCT	0.637												
NFATC2	4773	broad.mit.edu	37	20	50133334	50133334	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:50133334G>A	uc002xwd.2	-	3	1541	c.1321C>T	c.(1321-1323)CCT>TCT	p.P441S	NFATC2_uc002xwc.2_Missense_Mutation_p.P441S|NFATC2_uc010zyv.1_Missense_Mutation_p.P222S|NFATC2_uc010zyw.1_Missense_Mutation_p.P222S|NFATC2_uc010zyx.1_Missense_Mutation_p.P421S|NFATC2_uc010zyy.1_Missense_Mutation_p.P222S|NFATC2_uc010zyz.1_Missense_Mutation_p.P222S|NFATC2_uc002xwe.2_Missense_Mutation_p.P421S	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells,	441	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Hepatocellular(150;0.248)					TGAACCACAGGGTGGCCTCCA	0.532												
CDH26	60437	broad.mit.edu	37	20	58567530	58567530	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:58567530G>A	uc002ybe.2	+	10	1681	c.1381G>A	c.(1381-1383)GTA>ATA	p.V461I	CDH26_uc002ybf.1_Missense_Mutation_p.V41I|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	461	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCCCCTCATGTAAATAACAG	0.428												
CDH4	1002	broad.mit.edu	37	20	60448951	60448951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:60448951C>T	uc002ybn.1	+	7	1059	c.1045C>T	c.(1045-1047)CGA>TGA	p.R349*	CDH4_uc002ybp.1_Nonsense_Mutation_p.R275*	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	349	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGGCCTGGACCGAGAGGTGAG	0.662												
LAMA5	3911	broad.mit.edu	37	20	60888776	60888776	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:60888776C>T	uc002ycq.2	-	63	8654	c.8587G>A	c.(8587-8589)GCA>ACA	p.A2863T		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	2863	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCCCTCTGCCCCAGGGGCC	0.617												
ZNF512B	57473	broad.mit.edu	37	20	62595544	62595544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:62595544G>A	uc002yhl.1	-	8	1414	c.1360C>T	c.(1360-1362)CGA>TGA	p.R454*		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGGTGAACTCGGGCCTTGTCC	0.657												
LIPI	149998	broad.mit.edu	37	21	15561475	15561475	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:15561475T>G	uc002yjm.2	-	2	385	c.375A>C	c.(373-375)GAA>GAC	p.E125D	LIPI_uc010gkw.1_Missense_Mutation_p.E58D	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	lipase, member I	104					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			ovary(2)	2				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CATTCATATCTTCTTCATTCA	0.393												
TMPRSS15	5651	broad.mit.edu	37	21	19770545	19770545	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:19770545T>C	uc002ykw.2	-	2	278	c.247A>G	c.(247-249)AAA>GAA	p.K83E		NM_002772	NP_002763	P98073	ENTK_HUMAN	enterokinase precursor	83	Extracellular (Potential).|SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						GCAAGAACTTTGAAATCCACT	0.378												
RNF160	26046	broad.mit.edu	37	21	30329691	30329691	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:30329691C>T	uc002ymr.2	-	15	3006	c.2993G>A	c.(2992-2994)AGT>AAT	p.S998N		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	952							ligase activity|zinc ion binding				0						TTCCCATTCACTGTCGTTCGG	0.378												
CLDN17	26285	broad.mit.edu	37	21	31538770	31538770	+	Nonsense_Mutation	SNP	G	G	A	rs148594408		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:31538770G>A	uc011acv.1	-	1	166	c.166C>T	c.(166-168)CGA>TGA	p.R56*		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	56	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						CTGGCTTGTCGGATGCAATTC	0.547												
KRTAP19-1	337882	broad.mit.edu	37	21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:31852407C>T	uc011acx.1	-	1	230	c.230G>A	c.(229-231)CGC>CAC	p.R77H		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament					0						GTACGATGGGCGGCAGCAGCC	0.488												
IFNGR2	3460	broad.mit.edu	37	21	34809262	34809262	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:34809262C>T	uc002yrp.3	+	7	1655	c.1007C>T	c.(1006-1008)ACG>ATG	p.T336M	IFNGR2_uc002yrq.3_Missense_Mutation_p.T355M|IFNGR2_uc010gma.2_Missense_Mutation_p.T257M|IFNGR2_uc002yrr.3_Missense_Mutation_p.T257M|TMEM50B_uc002yrs.1_Intron	NM_005534	NP_005525	P38484	INGR2_HUMAN	interferon gamma receptor 2 precursor	336	Cytoplasmic (Potential).				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity				0					Interferon gamma-1b(DB00033)	GTTCTCCAAACGCTTTGAACC	0.507												
RUNX1	861	broad.mit.edu	37	21	36171728	36171728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:36171728C>T	uc002yuh.2	-	5	2334	c.756G>A	c.(754-756)TGG>TGA	p.W252*	RUNX1_uc002yui.2_Nonsense_Mutation_p.W188*|RUNX1_uc010gmu.2_Nonsense_Mutation_p.W279*|RUNX1_uc010gmv.2_Nonsense_Mutation_p.W279*|RUNX1_uc002yuj.3_Nonsense_Mutation_p.W147*|RUNX1_uc002yuk.3_Nonsense_Mutation_p.W279*|RUNX1_uc002yul.1_Nonsense_Mutation_p.W44*|RUNX1_uc002yum.1_Nonsense_Mutation_p.W83*	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN	runt-related transcription factor 1 isoform	252	Pro/Ser/Thr-rich.			Missing: No DNA-binding.	myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						GATCGTAGGACCACGGTGGGG	0.478			T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies			
FAM3B	54097	broad.mit.edu	37	21	42694964	42694964	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:42694964G>A	uc002yzb.1	+	2	280	c.134G>A	c.(133-135)CGC>CAC	p.R45H	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Intron|FAM3B_uc002yzd.1_Missense_Mutation_p.R68H|FAM3B_uc011aeq.1_Missense_Mutation_p.R59H	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	45					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				TATAGCATCCGCAGCATCGGG	0.597												
RIPK4	54101	broad.mit.edu	37	21	43161902	43161902	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:43161902C>T	uc002yzn.1	-	8	1499	c.1451G>A	c.(1450-1452)CGG>CAG	p.R484Q		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	484						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CACGACACCCCGCACCCTCCT	0.637												
ZNF295	49854	broad.mit.edu	37	21	43411221	43411221	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:43411221T>C	uc002zab.3	-	3	3198	c.2984A>G	c.(2983-2985)AAG>AGG	p.K995R	ZNF295_uc002yzz.3_Missense_Mutation_p.K794R|ZNF295_uc002yzy.3_Missense_Mutation_p.K995R|ZNF295_uc002zaa.3_Missense_Mutation_p.K995R	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	995					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						AGGCTGGATCTTGGGCAGTGG	0.562												
UMODL1	89766	broad.mit.edu	37	21	43504209	43504209	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:43504209G>T	uc002zaf.1	+	3	335	c.335G>T	c.(334-336)GGG>GTG	p.G112V	UMODL1_uc002zad.1_Missense_Mutation_p.G40V|UMODL1_uc002zae.1_Missense_Mutation_p.G40V|UMODL1_uc002zag.1_Missense_Mutation_p.G112V|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1 isoform 1 precursor	112	Extracellular (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			ovary(2)|skin(1)	3						AATCAGTCCGGGCAGTTCACG	0.557												
ITGB2	3689	broad.mit.edu	37	21	46326963	46326963	+	Silent	SNP	C	C	T	rs149429459	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:46326963C>T	uc002zgd.2	-	3	239	c.195G>A	c.(193-195)CGG>CGA	p.R65R	ITGB2_uc002zge.2_Silent_p.R65R|ITGB2_uc002zgf.3_Silent_p.R65R|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Silent_p.R65R|ITGB2_uc002zgg.2_Silent_p.R65R	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	65	Extracellular (Potential).				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCAGCTGTGGCCGGGTGTCGC	0.652												
MCM3AP	8888	broad.mit.edu	37	21	47680751	47680751	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:47680751G>A	uc002zir.1	-	15	3573	c.3537C>T	c.(3535-3537)CGC>CGT	p.R1179R	MCM3AP_uc002zip.1_5'Flank|MCM3AP_uc002ziq.1_Silent_p.R106R	NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	1179					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)					CCATCATCACGCGTTCCATCA	0.522												
CCT8L2	150160	broad.mit.edu	37	22	17073106	17073106	+	Missense_Mutation	SNP	G	G	A	rs147878859		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:17073106G>A	uc002zlp.1	-	1	595	c.335C>T	c.(334-336)ACG>ATG	p.T112M		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	112					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CAAGGCTTCCGTCAGCAGAAC	0.667												
SMARCB1	6598	broad.mit.edu	37	22	24135750	24135750	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:24135750C>T	uc002zyb.2	+	3	444	c.237C>T	c.(235-237)CAC>CAT	p.H79H	SMARCB1_uc002zyg.2_Silent_p.H79H|SMARCB1_uc011ajb.1_Silent_p.H70H|SMARCB1_uc002zya.2_Silent_p.H79H|SMARCB1_uc002zyc.2_Silent_p.H70H|SMARCB1_uc002zyd.2_Silent_p.H70H|SMARCB1_uc002zye.1_Silent_p.H42H|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	79					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TTACAGATCACGGATACACGA	0.537			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
SMARCB1	6598	broad.mit.edu	37	22	24145518	24145518	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:24145518C>T	uc002zyb.2	+	5	744	c.537C>T	c.(535-537)AAC>AAT	p.N179N	SMARCB1_uc002zya.2_Silent_p.N179N|SMARCB1_uc002zyc.2_Silent_p.N170N|SMARCB1_uc002zyd.2_Silent_p.N188N|SMARCB1_uc002zye.1_Silent_p.N105N|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_RNA	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	179	DNA-binding (Potential).				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(5)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				TCCATGAGAACGCATCTCAGC	0.552			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
PIWIL3	440822	broad.mit.edu	37	22	25151789	25151789	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:25151789C>T	uc003abd.1	-	6	1071	c.654G>A	c.(652-654)TCG>TCA	p.S218S	PIWIL3_uc011ajx.1_Silent_p.S109S|PIWIL3_uc011ajy.1_Silent_p.S109S|PIWIL3_uc010gut.1_Silent_p.S218S	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	piwi-like 3	218					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4						GGCAATCTGGCGACGTGGGCG	0.403												
MN1	4330	broad.mit.edu	37	22	28193441	28193441	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:28193441C>T	uc003adj.2	-	1	4046	c.3091G>A	c.(3091-3093)GGG>AGG	p.G1031R		NM_002430	NP_002421	Q10571	MN1_HUMAN	meningioma  1	1031							binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10						GACTTGGCCCCGCCGTCCAGG	0.647			T	ETV6	AML|meningioma							
MTMR3	8897	broad.mit.edu	37	22	30418067	30418067	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:30418067G>A	uc003agv.3	+	18	3603	c.3275G>A	c.(3274-3276)CGC>CAC	p.R1092H	MTMR3_uc003agu.3_Intron|MTMR3_uc003agw.3_Intron	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	myotubularin-related protein 3 isoform c	1092					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|ovary(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGTTTGTCTCGCTGCAGCACA	0.498												
SMTN	6525	broad.mit.edu	37	22	31495882	31495882	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:31495882A>G	uc003ajl.1	+	19	2821	c.2603A>G	c.(2602-2604)GAG>GGG	p.E868G	SMTN_uc003ajk.1_Missense_Mutation_p.E868G|SMTN_uc003ajm.1_Missense_Mutation_p.E868G|SMTN_uc011ale.1_Missense_Mutation_p.E953G|SMTN_uc011alf.1_Missense_Mutation_p.E924G|SMTN_uc003ajn.1_Missense_Mutation_p.E891G|SMTN_uc011alg.1_Missense_Mutation_p.E324G|SMTN_uc003ajo.1_Missense_Mutation_p.E391G|SMTN_uc010gwe.1_Missense_Mutation_p.E248G|SMTN_uc003ajp.1_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	smoothelin isoform c	868	CH.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			large_intestine(2)|pancreas(1)	3						TCATCTGCGGAGTAAGTGTGG	0.617												
C1QTNF6	114904	broad.mit.edu	37	22	37578581	37578581	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:37578581T>C	uc003aqw.1	-	2	932	c.427A>G	c.(427-429)ACG>GCG	p.T143A	C1QTNF6_uc003aqx.1_Missense_Mutation_p.T162A|C1QTNF6_uc003aqy.1_Missense_Mutation_p.T162A|C1QTNF6_uc003aqz.1_RNA	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	143	C1q.					collagen					0						AAGAGCAGCGTCTGGAAGTCC	0.627												
TRIOBP	11078	broad.mit.edu	37	22	38119208	38119208	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:38119208C>T	uc003atr.2	+	7	916	c.645C>T	c.(643-645)GGC>GGT	p.G215G	TRIOBP_uc003atu.2_Silent_p.G43G|TRIOBP_uc003atq.1_Silent_p.G215G|TRIOBP_uc003ats.1_Silent_p.G43G	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	215					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					GCGGTGGGGGCCGGAGCGCAG	0.617												
TRIOBP	11078	broad.mit.edu	37	22	38122069	38122069	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:38122069G>A	uc003atr.2	+	7	3777	c.3506G>A	c.(3505-3507)CGG>CAG	p.R1169Q	TRIOBP_uc003atu.2_Missense_Mutation_p.R997Q|TRIOBP_uc003atq.1_Missense_Mutation_p.R1169Q|TRIOBP_uc003ats.1_Missense_Mutation_p.R997Q	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	1169					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)					ATTGGGCACCGGGATGCACCC	0.637												
GCAT	23464	broad.mit.edu	37	22	38211178	38211178	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:38211178G>A	uc003atz.2	+	5	642	c.622G>A	c.(622-624)GAT>AAT	p.D208N	GCAT_uc003aua.1_Missense_Mutation_p.D234N	NM_014291	NP_055106	O75600	KBL_HUMAN	glycine C-acetyltransferase precursor	208					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups				0	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTTTTCCATGGATGGCGACAT	0.597												
MCHR1	2847	broad.mit.edu	37	22	41076969	41076969	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:41076969G>A	uc003ayz.2	+	2	574	c.306G>A	c.(304-306)ACG>ACA	p.T102T	MCHR1_uc003aza.2_5'UTR	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	G protein-coupled receptor 24	102	Extracellular (Potential).				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity				0						CTCCTCGCACGGGGAGCATCT	0.572												
EP300	2033	broad.mit.edu	37	22	41527639	41527639	+	Splice_Site	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:41527639T>C	uc003azl.3	+	6	1923	c.1528_splice	c.e6+2	p.S510_splice		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300						apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						GCAACATGAGTAAGTTTGTGT	0.438			T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome			
SREBF2	6721	broad.mit.edu	37	22	42276824	42276824	+	Silent	SNP	C	C	T	rs141892188		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:42276824C>T	uc003bbi.2	+	10	2035	c.1866C>T	c.(1864-1866)AAC>AAT	p.N622N	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	sterol regulatory element-binding transcription	622	Cytoplasmic (Potential).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			breast(2)|ovary(1)|central_nervous_system(1)	4						TCTCCTGGAACGTGATCCGCT	0.642												
EFCAB6	64800	broad.mit.edu	37	22	44028036	44028036	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:44028036G>T	uc003bdy.1	-	19	2396	c.2181C>A	c.(2179-2181)ACC>ACA	p.T727T	EFCAB6_uc003bdz.1_Silent_p.T575T|EFCAB6_uc010gzi.1_Silent_p.T575T|EFCAB6_uc010gzj.1_Silent_p.T25T|EFCAB6_uc010gzk.1_RNA	NM_022785	NP_073622	Q5THR3	EFCB6_HUMAN	CAP-binding protein complex interacting protein	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	7		Ovarian(80;0.0247)|all_neural(38;0.025)				ATTCTTCTGCGGTGATAAAGT	0.537												
ALG12	79087	broad.mit.edu	37	22	50301525	50301525	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:50301525A>G	uc003biy.2	-	7	1110	c.836T>C	c.(835-837)ATC>ACC	p.I279T		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	alpha-1,6-mannosyltransferase ALG12	279	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane					0		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCAGGGGGATGAAGAGCAG	0.652												
CPT1B	1375	broad.mit.edu	37	22	51015369	51015369	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:51015369G>C	uc003bmk.3	-	3	538	c.376C>G	c.(376-378)CAA>GAA	p.Q126E	CPT1B_uc003bml.2_Missense_Mutation_p.Q126E|CPT1B_uc003bmm.2_Missense_Mutation_p.Q126E|CPT1B_uc003bmo.2_Missense_Mutation_p.Q126E|CPT1B_uc011asa.1_Missense_Mutation_p.Q126E|CPT1B_uc003bmn.2_Missense_Mutation_p.Q126E|CPT1B_uc011asb.1_Missense_Mutation_p.Q126E|CHKB-CPT1B_uc003bmp.2_5'UTR	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	126	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TTCAGGGTTTGGCGGAAGAAG	0.587											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SRGAP3	9901	broad.mit.edu	37	3	9034632	9034632	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:9034632G>A	uc003brf.1	-	20	3192	c.2516C>T	c.(2515-2517)ACG>ATG	p.T839M	SRGAP3_uc003brg.1_Missense_Mutation_p.T815M	NM_014850	NP_055665	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	839					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(4)	central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GATGTGCTCCGTGGGGGACTG	0.562			T	RAF1	pilocytic astrocytoma							
SETD5	55209	broad.mit.edu	37	3	9483295	9483295	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:9483295A>G	uc003brt.2	+	9	1264	c.829A>G	c.(829-831)ACT>GCT	p.T277A	SETD5_uc003brs.1_Missense_Mutation_p.T258A|SETD5_uc003bru.2_Missense_Mutation_p.T179A|SETD5_uc003brv.2_Missense_Mutation_p.T166A|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	277	SET.									ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAGAGTCACTCGTGTTCA	0.398												
SLC6A1	6529	broad.mit.edu	37	3	11064133	11064133	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:11064133G>T	uc010hdq.2	+	7	1104	c.693G>T	c.(691-693)AAG>AAT	p.K231N		NM_003042	NP_003033	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter	231					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)|skin(1)	2		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GTATCTGGAAGGGTGTTGGCT	0.547												
C3orf31	132001	broad.mit.edu	37	3	11885643	11885643	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:11885643C>T	uc003bwh.2	-	2	420	c.178G>A	c.(178-180)GCA>ACA	p.A60T	C3orf31_uc003bwj.2_Missense_Mutation_p.A60T|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.A60T|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA	NM_138807	NP_620162	Q96BW9	MMP37_HUMAN	MMP37-like protein, mitochondrial precursor	60					protein import into mitochondrial matrix	extrinsic to mitochondrial inner membrane					0						GAATGCCATGCGACAGGGTCA	0.408												
CAND2	23066	broad.mit.edu	37	3	12875478	12875478	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:12875478C>T	uc003bxk.2	+	15	3757	c.3708C>T	c.(3706-3708)AGC>AGT	p.S1236S	CAND2_uc003bxj.2_Silent_p.S1119S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	TBP-interacting protein isoform 1	1236	HEAT 26.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			skin(3)|pancreas(1)	4						TGGAGCTCAGCTAGTCCCCTC	0.567												
C3orf19	51244	broad.mit.edu	37	3	14711585	14711585	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:14711585G>A	uc003byw.2	+	10	1188	c.1097G>A	c.(1096-1098)CGC>CAC	p.R366H	C3orf19_uc010hej.2_Missense_Mutation_p.R195H	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	hypothetical protein LOC51244	366											0						GAGTGGGACCGCGGAAAAGGT	0.512												
ANKRD28	23243	broad.mit.edu	37	3	15749455	15749455	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:15749455G>A	uc003caj.1	-	14	1576	c.1433C>T	c.(1432-1434)GCA>GTA	p.A478V	ANKRD28_uc003cai.1_Missense_Mutation_p.A324V|ANKRD28_uc011avz.1_Missense_Mutation_p.A324V|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.A508V|ANKRD28_uc003cam.2_Missense_Mutation_p.A511V	NM_015199	NP_056014	O15084	ANR28_HUMAN	ankyrin repeat domain 28	478	ANK 14.					nucleoplasm	protein binding			breast(1)	1						TGATGTAGCTGCATAGTGCAG	0.463												
KCNH8	131096	broad.mit.edu	37	3	19492689	19492689	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:19492689A>G	uc003cbk.1	+	10	1813	c.1618A>G	c.(1618-1620)ATG>GTG	p.M540V	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.M1V|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	540	Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TGACATCACTATGCACTTGAA	0.438												
NR1D2	9975	broad.mit.edu	37	3	24004097	24004097	+	Splice_Site	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:24004097G>A	uc003ccs.2	+	5	1465	c.1146_splice	c.e5+1	p.L382_splice	NR1D2_uc010hfd.2_Splice_Site|NR1D2_uc011awk.1_Splice_Site_p.L307_splice	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						AATGCATCTGGTATAGTGAAA	0.373												
GOLGA4	2803	broad.mit.edu	37	3	37368531	37368531	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:37368531T>C	uc003cgv.2	+	14	5458	c.5154T>C	c.(5152-5154)TAT>TAC	p.Y1718Y	GOLGA4_uc010hgr.1_Silent_p.Y1279Y|GOLGA4_uc003cgw.2_Silent_p.Y1740Y|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Silent_p.Y1599Y	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	golgi autoantigen, golgin subfamily a, 4	1718	Potential.|Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			ovary(2)|breast(1)|central_nervous_system(1)	4						TGGCAGCATATACTGAACAAG	0.353												
XYLB	9942	broad.mit.edu	37	3	38438615	38438615	+	Missense_Mutation	SNP	C	C	T	rs2234625		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:38438615C>T	uc003cic.2	+	17	1512	c.1403C>T	c.(1402-1404)TCG>TTG	p.S468L	XYLB_uc011ayp.1_Missense_Mutation_p.S331L|XYLB_uc003cid.1_Missense_Mutation_p.S390L	NM_005108	NP_005099	O75191	XYLB_HUMAN	xylulokinase	468					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		ACTGCCAACTCGGCCTGTGTG	0.542												
TGM4	7047	broad.mit.edu	37	3	44943299	44943299	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:44943299G>T	uc003coc.3	+	8	920	c.847G>T	c.(847-849)GGC>TGC	p.G283C		NM_003241	NP_003232	P49221	TGM4_HUMAN	transglutaminase 4 (prostate)	283					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GAGAGCGTTGGGCATCCCAGC	0.577												
LIMD1	8994	broad.mit.edu	37	3	45637492	45637492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:45637492G>A	uc003coq.2	+	1	1170	c.1121G>A	c.(1120-1122)TGC>TAC	p.C374Y		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	374					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AAGCCTGGCTGCACAGACCTT	0.612												
FYCO1	79443	broad.mit.edu	37	3	46009351	46009351	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:46009351C>T	uc003cpb.3	-	8	1681	c.1475G>A	c.(1474-1476)CGG>CAG	p.R492Q	FYCO1_uc011bal.1_Missense_Mutation_p.R492Q	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	492	Potential.				transport	integral to membrane	metal ion binding|protein binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTTTTTCTCCCGCCTCAACTC	0.622												
CELSR3	1951	broad.mit.edu	37	3	48699642	48699642	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:48699642G>A	uc003cul.2	-	1	707	c.426C>T	c.(424-426)TGC>TGT	p.C142C	CELSR3_uc003cuf.1_Silent_p.C212C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	142	Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCCGCCCGCAAGAGGAGA	0.622												
QARS	5859	broad.mit.edu	37	3	49139862	49139862	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49139862T>C	uc003cvx.2	-	6	565	c.560A>G	c.(559-561)AAG>AGG	p.K187R	QARS_uc011bcd.1_Missense_Mutation_p.K42R|QARS_uc003cvy.2_Missense_Mutation_p.K42R|QARS_uc011bce.1_Missense_Mutation_p.K176R|QARS_uc011bcf.1_Missense_Mutation_p.K187R	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	187					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTTGAACTTCTTCTCCAGATC	0.572												
CCDC71	64925	broad.mit.edu	37	3	49200881	49200881	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49200881T>C	uc003cwg.3	-	2	899	c.761A>G	c.(760-762)CAC>CGC	p.H254R		NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	254										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTGCTCTGGTGCCCAGAGCC	0.632												
BSN	8927	broad.mit.edu	37	3	49688509	49688509	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49688509G>A	uc003cxe.3	+	4	2097	c.1983G>A	c.(1981-1983)GCG>GCA	p.A661A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	661					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)		GTGGGGAGGCGGAGGTCAGTC	0.597												
MON1A	84315	broad.mit.edu	37	3	49947986	49947986	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:49947986C>T	uc003cxz.2	-	4	1362	c.1236G>A	c.(1234-1236)GCG>GCA	p.A412A	MON1A_uc003cya.2_Silent_p.A250A|MON1A_uc003cyb.2_Silent_p.A250A	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	MON1 homolog A isoform a	315							protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCAGGCTGCGCGCACGCGCCT	0.692												
NT5DC2	64943	broad.mit.edu	37	3	52559266	52559266	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:52559266G>A	uc003deo.2	-	11	1478	c.1054C>T	c.(1054-1056)CGC>TGC	p.R352C	NT5DC2_uc003dem.2_Missense_Mutation_p.R222C|NT5DC2_uc003den.2_Missense_Mutation_p.R389C|NT5DC2_uc010hmi.2_Missense_Mutation_p.R364C|NT5DC2_uc010hmj.2_Missense_Mutation_p.R168C	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2 isoform 2	352							hydrolase activity|metal ion binding				0				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		TAGAGCACGCGGGGGCCACGC	0.642												
PBRM1	55193	broad.mit.edu	37	3	52595943	52595943	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:52595943G>T	uc003des.2	-	25	4140	c.4128C>A	c.(4126-4128)GGC>GGA	p.G1376G	PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.G1376G|PBRM1_uc003der.2_Silent_p.G1344G|PBRM1_uc003det.2_Silent_p.G1391G|PBRM1_uc003deu.2_Silent_p.G1391G|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.G1376G|PBRM1_uc010hmk.1_Silent_p.G1351G|PBRM1_uc003dey.2_Silent_p.G1324G|PBRM1_uc003dez.1_Silent_p.G1375G	NM_181042	NP_060635	Q86U86	PB1_HUMAN	polybromo 1 isoform 4	1376					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			kidney(136)|breast(4)	140				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCCGTTTGGAGCCTTCCTTCT	0.463			Mis|N|F|S|D|O		clear cell renal carcinoma|breast							
IL17RB	55540	broad.mit.edu	37	3	53899191	53899191	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:53899191C>T	uc003dha.2	+	11	1404	c.1365C>T	c.(1363-1365)GAC>GAT	p.D455D		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	interleukin 17B receptor precursor	455	SEFIR.|Cytoplasmic (Potential).			Missing (in Ref. 2; AA sequence).	defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ATACAAAAGACGATTACAATG	0.463												
LRTM1	57408	broad.mit.edu	37	3	54952709	54952709	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:54952709T>A	uc003dhl.2	-	3	949	c.815A>T	c.(814-816)GAG>GTG	p.E272V	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	272	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GGGTTTGAGCTCGCACTCCAA	0.607												
FAM107A	11170	broad.mit.edu	37	3	58555555	58555555	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:58555555G>A	uc003dkm.2	-	3	592	c.33C>T	c.(31-33)GAC>GAT	p.D11D	FAM107A_uc003dko.2_Silent_p.D42D|FAM107A_uc003dkn.2_Silent_p.D11D|FAM107A_uc010hnm.2_Silent_p.D39D|FAM107A_uc003dkp.1_Silent_p.D11D	NM_007177	NP_009108	O95990	F107A_HUMAN	downregulated in renal cell carcinoma	11					regulation of cell growth	nucleus	protein binding				0				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		GGCCCCCAATGTCTGCCCGCT	0.597												
LRIG1	26018	broad.mit.edu	37	3	66467669	66467669	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:66467669G>A	uc003dmx.2	-	4	401	c.387C>T	c.(385-387)AGC>AGT	p.S129S	LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Silent_p.S129S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	129	Extracellular (Potential).|LRR 3.					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCCCTCCACGCTGCGAATCT	0.488												
KBTBD8	84541	broad.mit.edu	37	3	67053771	67053771	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:67053771C>T	uc003dmy.2	+	3	433	c.380C>T	c.(379-381)GCT>GTT	p.A127V	KBTBD8_uc011bfv.1_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	T-cell activation kelch repeat protein	127										ovary(2)|large_intestine(1)|breast(1)	4		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		TTCACTGCAGCTAGCATCTTC	0.418												
GXYLT2	727936	broad.mit.edu	37	3	72971426	72971426	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:72971426A>G	uc003dpg.2	+	3	540	c.540A>G	c.(538-540)GGA>GGG	p.G180G		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	180	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						TTTCTGTTGGAAACCCTCAGG	0.453												
CNTN3	5067	broad.mit.edu	37	3	74420384	74420384	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:74420384C>T	uc003dpm.1	-	5	701	c.621G>A	c.(619-621)GTG>GTA	p.V207V		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	207	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GAGAGCCCAGCACTCGGGCAT	0.493												
VGLL3	389136	broad.mit.edu	37	3	87027811	87027811	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:87027811G>T	uc003dqn.2	-	2	632	c.268C>A	c.(268-270)CTT>ATT	p.L90I		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	colon carcinoma related protein	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TAAGTGAAAAGGACACAGCGA	0.408												
EPHA3	2042	broad.mit.edu	37	3	89499360	89499360	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:89499360C>T	uc003dqy.2	+	15	2755	c.2530C>T	c.(2530-2532)CCA>TCA	p.P844S	EPHA3_uc010hon.1_RNA	NM_005233	NP_005224	P29320	EPHA3_HUMAN	ephrin receptor EphA3 isoform a precursor	844	Cytoplasmic (Potential).|Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTATCGACTGCCACCCCCCAT	0.468										TSP Lung(6;0.00050)		
IMPG2	50939	broad.mit.edu	37	3	100949961	100949961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:100949961G>A	uc003duq.1	-	16	3465	c.3262C>T	c.(3262-3264)CGA>TGA	p.R1088*	IMPG2_uc011bhe.1_Nonsense_Mutation_p.R951*|IMPG2_uc010hpj.1_Intron	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1088	Extracellular (Potential).|EGF-like 2.|Hyaluronan-binding motif involved in chondroitin sulfate C-binding (By similarity).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						TGCTTGCCTCGGTACCACCAG	0.493												
MYH15	22989	broad.mit.edu	37	3	108183492	108183492	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:108183492G>A	uc003dxa.1	-	16	1841	c.1784C>T	c.(1783-1785)GCA>GTA	p.A595V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	595	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7						CACCACTCCTGCATAATGGAC	0.408												
WDR52	55779	broad.mit.edu	37	3	113092397	113092397	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113092397A>G	uc003eae.1	-	18	2351	c.2305T>C	c.(2305-2307)TAT>CAT	p.Y769H		NM_018338	NP_060808	Q96MT7	WDR52_HUMAN	WD repeat domain 52 isoform 2	769										central_nervous_system(1)	1						CCAGAATCATAGCCACCCTAG	0.333												
SIDT1	54847	broad.mit.edu	37	3	113285337	113285337	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113285337G>A	uc003eak.2	+	2	944	c.293G>A	c.(292-294)CGC>CAC	p.R98H	SIDT1_uc011bif.1_RNA|SIDT1_uc003eaj.1_Missense_Mutation_p.R98H|SIDT1_uc011big.1_5'UTR	NM_017699	NP_060169	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1 precursor	98	Extracellular (Potential).					integral to membrane				ovary(3)|pancreas(1)|skin(1)	5						GTTGTGGTTCGCCAGCAGAAA	0.493												
KIAA2018	205717	broad.mit.edu	37	3	113378994	113378994	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113378994T>G	uc003eam.2	-	7	1946	c.1535A>C	c.(1534-1536)CAG>CCG	p.Q512P	KIAA2018_uc003eal.2_Missense_Mutation_p.Q456P	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	512					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3						AACTTGTGGCTGGGCAATTAG	0.438												
KIAA1407	57577	broad.mit.edu	37	3	113697052	113697052	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:113697052C>T	uc003eax.2	-	16	2734	c.2587G>A	c.(2587-2589)GCA>ACA	p.A863T	KIAA1407_uc011bin.1_RNA	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	863										ovary(2)	2						TGCTCCGCTGCAATCTCATGC	0.418												
STXBP5L	9515	broad.mit.edu	37	3	121132132	121132132	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:121132132C>T	uc003eec.3	+	25	3288	c.3148C>T	c.(3148-3150)CGG>TGG	p.R1050W	STXBP5L_uc011bji.1_Missense_Mutation_p.R1026W	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1050	WD 14.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		TGAAATTCAGCGGTTAACATA	0.383												
CD86	942	broad.mit.edu	37	3	121825268	121825268	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:121825268T>C	uc003eet.2	+	4	740	c.624T>C	c.(622-624)CCT>CCC	p.P208P	CD86_uc011bjo.1_Silent_p.P126P|CD86_uc011bjp.1_Silent_p.P96P|CD86_uc003eeu.2_Silent_p.P202P	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	208	Ig-like C2-type.|Extracellular (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTCATTCCCTGATGTTACGA	0.398												
ZNF148	7707	broad.mit.edu	37	3	124951370	124951370	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:124951370G>A	uc003ehx.3	-	9	2686	c.2200C>T	c.(2200-2202)CGT>TGT	p.R734C	SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.R734C|ZNF148_uc010hsa.2_Missense_Mutation_p.R734C|ZNF148_uc003eia.3_Missense_Mutation_p.R734C|ZNF148_uc003ehy.2_Missense_Mutation_p.R71C	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	734					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						TAGGGAGCACGGAAGGGCTGT	0.493												
ACAD9	28976	broad.mit.edu	37	3	128621403	128621403	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:128621403T>C	uc003ela.3	+	9	1092	c.890T>C	c.(889-891)ATG>ACG	p.M297T	ACAD9_uc010hsw.1_Missense_Mutation_p.M174T|ACAD9_uc011bks.1_Missense_Mutation_p.M174T|ACAD9_uc003elb.2_Missense_Mutation_p.M174T|ACAD9_uc003elc.1_Missense_Mutation_p.M115T|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_5'Flank	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	297						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						CAGGTGGCCATGAACATCCTC	0.612												
NPHP3	27031	broad.mit.edu	37	3	132403635	132403635	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:132403635T>C	uc003epe.1	-	24	3410	c.3333A>G	c.(3331-3333)ACA>ACG	p.T1111T	NPHP3_uc003eoz.1_5'UTR|NPHP3_uc003epd.1_Silent_p.T353T	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	nephrocystin 3	1111	TPR 7.				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|Wnt receptor signaling pathway	cilium	protein binding			ovary(1)	1						ACTGGTCAGCTGTTCTGTGAA	0.418												
CEP63	80254	broad.mit.edu	37	3	134278244	134278244	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:134278244G>A	uc003eqo.1	+	15	2375	c.1926G>A	c.(1924-1926)ATG>ATA	p.M642I	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	centrosomal protein 63 isoform a	642					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			ovary(1)	1						CTGAGAGTATGAATGACCAAG	0.333												
ZBTB38	253461	broad.mit.edu	37	3	141161920	141161920	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:141161920A>C	uc003etw.2	+	8	1672	c.690A>C	c.(688-690)GAA>GAC	p.E230D	ZBTB38_uc010hun.2_Missense_Mutation_p.E227D|ZBTB38_uc010huo.2_Missense_Mutation_p.E230D|ZBTB38_uc003ety.2_Missense_Mutation_p.E230D|ZBTB38_uc010hup.2_Missense_Mutation_p.E231D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	230					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3						CCGTAGCTGAAGCTTACAGAA	0.532												
FAM194A	131831	broad.mit.edu	37	3	150416589	150416589	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:150416589T>C	uc003eyg.2	-	3	599	c.542A>G	c.(541-543)AAA>AGA	p.K181R	FAM194A_uc003eyh.2_Missense_Mutation_p.K35R	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	hypothetical protein LOC131831	181										skin(2)|ovary(1)	3						CGATTGCACTTTATCAGACAA	0.269												
RSRC1	51319	broad.mit.edu	37	3	157920896	157920896	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:157920896G>A	uc003fbt.2	+	4	467	c.356G>A	c.(355-357)CGT>CAT	p.R119H	RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.R119H|RSRC1_uc003fbv.2_Intron	NM_016625	NP_057709	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	119	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding				0			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTCATAGTCGTAGCAGTGAA	0.378												
WDR49	151790	broad.mit.edu	37	3	167246886	167246886	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:167246886A>C	uc003fev.1	-	10	1610	c.1304T>G	c.(1303-1305)CTT>CGT	p.L435R	WDR49_uc003feu.1_Missense_Mutation_p.L260R|WDR49_uc011bpd.1_Missense_Mutation_p.L499R|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	WD repeat domain 49	435	WD 7.									large_intestine(1)|ovary(1)|skin(1)	3						TCCTGTGGTAAGGTATCGATT	0.338												
GOLIM4	27333	broad.mit.edu	37	3	167750557	167750557	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:167750557A>G	uc003ffe.2	-	9	1271	c.927T>C	c.(925-927)CAT>CAC	p.H309H	GOLIM4_uc011bpe.1_Silent_p.H309H|GOLIM4_uc011bpf.1_Silent_p.H281H|GOLIM4_uc011bpg.1_Silent_p.H281H	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	309	Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5						CTGCCTCCTTATGGGTGGGAG	0.512												
NAALADL2	254827	broad.mit.edu	37	3	174814591	174814591	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:174814591G>A	uc003fit.2	+	2	142	c.55G>A	c.(55-57)GCC>ACC	p.A19T	NAALADL2_uc003fiu.1_Missense_Mutation_p.A12T	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	19	Cytoplasmic (Potential).				proteolysis	integral to membrane	peptidase activity			pancreas(1)	1	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TAAAAAGATGGCCTATCAGAA	0.343												
TBL1XR1	79718	broad.mit.edu	37	3	176756101	176756101	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:176756101C>T	uc003fiw.3	-	11	1307	c.1047G>A	c.(1045-1047)ACG>ACA	p.T349T	TBL1XR1_uc003fix.3_Silent_p.T349T|TBL1XR1_uc011bpz.1_Silent_p.T21T	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	349	WD 5.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GGTTTCTTACCGTATGTCCTT	0.343												
KCNMB3	27094	broad.mit.edu	37	3	178977011	178977011	+	Translation_Start_Site	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:178977011G>T	uc003fjo.2	-	1	669	c.-273C>A	c.(-275--271)GCCTG>GCATG		KCNMB3_uc003fjl.3_RNA|KCNMB3_uc011bqc.1_Intron|KCNMB3_uc003fjp.1_Intron	NM_171829	NP_741980	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3						detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			CTGCTTCACAGGCATCACTAA	0.458												
EIF2B5	8893	broad.mit.edu	37	3	183859721	183859721	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:183859721G>A	uc003fmp.2	+	8	1529	c.1165G>A	c.(1165-1167)GTG>ATG	p.V389M	EIF2B5_uc003fmq.2_Missense_Mutation_p.V110M|EIF2B5_uc003fmr.2_5'Flank	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B,	389					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			ovary(5)	5	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGGTGATAACGTGGTGCTGGA	0.572												
ADIPOQ	9370	broad.mit.edu	37	3	186572260	186572260	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:186572260A>G	uc003fra.2	+	3	586	c.502A>G	c.(502-504)ATG>GTG	p.M168V	ADIPOQ_uc010hyy.2_Missense_Mutation_p.M168V	NM_004797	NP_004788	Q15848	ADIPO_HUMAN	adiponectin precursor	168	C1q.				brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor	collagen|endoplasmic reticulum|extracellular space	cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity			ovary(1)	1	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		CACAGTCTATATGAAGGATGT	0.463												
LPP	4026	broad.mit.edu	37	3	188327061	188327061	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:188327061A>G	uc003frs.1	+	6	788	c.542A>G	c.(541-543)AAA>AGA	p.K181R	LPP_uc011bsg.1_Missense_Mutation_p.K181R|LPP_uc011bsi.1_Missense_Mutation_p.K181R|LPP_uc003frt.2_Missense_Mutation_p.K181R|LPP_uc011bsj.1_Missense_Mutation_p.K18R	NM_005578	NP_005569	Q93052	LPP_HUMAN	LIM domain containing preferred translocation	181	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCTACATTGAAACCACAGCCT	0.577			T	HMGA2|MLL|C12orf9	lipoma|leukemia							
IL1RAP	3556	broad.mit.edu	37	3	190366420	190366420	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:190366420C>T	uc003fsm.1	+	12	1845	c.1639C>T	c.(1639-1641)CCA>TCA	p.P547S	IL1RAP_uc010hzg.1_Missense_Mutation_p.P547S|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.P547S|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein isoform	547	Cytoplasmic (Potential).|TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				ovary(1)	1	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GGTGGCCATGCCAGTGAAGAA	0.473												
ATP13A4	84239	broad.mit.edu	37	3	193160315	193160315	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:193160315G>A	uc003ftd.2	-	19	2291	c.2183C>T	c.(2182-2184)GCC>GTC	p.A728V	ATP13A4_uc003fte.1_Missense_Mutation_p.A728V|ATP13A4_uc011bsr.1_Missense_Mutation_p.A199V|ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	728	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATTTTCTGGCCACTGTTAT	0.413												
GP5	2814	broad.mit.edu	37	3	194118478	194118478	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:194118478C>T	uc003ftv.1	-	2	565	c.534G>A	c.(532-534)TCG>TCA	p.S178S		NM_004488	NP_004479	P40197	GPV_HUMAN	glycoprotein V (platelet) precursor	178	Extracellular (Potential).|LRR 5.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				skin(2)|breast(1)	3	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GGTTGTTTCCCGATAAATCCA	0.532												
PAK2	5062	broad.mit.edu	37	3	196554107	196554107	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:196554107A>G	uc003fwy.3	+	14	1713	c.1391A>G	c.(1390-1392)CAG>CGG	p.Q464R		NM_002577	NP_002568	Q13177	PAK2_HUMAN	p21-activated kinase 2	464	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			ovary(1)|lung(1)	2	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|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;0.00405)		CCAGAACTTCAGAATCCAGAG	0.388												
KIAA1530	57654	broad.mit.edu	37	4	1373950	1373950	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:1373950C>T	uc003gde.3	+	11	2131	c.1684C>T	c.(1684-1686)CCT>TCT	p.P562S	KIAA1530_uc010ibv.2_Missense_Mutation_p.P113S	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	562											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			GAAGTTTGAGCCTGTGCAGCA	0.672												
HTT	3064	broad.mit.edu	37	4	3224185	3224185	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:3224185G>A	uc011bvq.1	+	55	7592	c.7447G>A	c.(7447-7449)GTG>ATG	p.V2483M		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	2481					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCAGCCCCTCGTGATGGAGCA	0.542												
EVC2	132884	broad.mit.edu	37	4	5567005	5567005	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:5567005C>A	uc003gij.2	-	21	3693	c.3639G>T	c.(3637-3639)TGG>TGT	p.W1213C	EVC2_uc011bwb.1_Missense_Mutation_p.W653C|EVC2_uc003gik.2_Missense_Mutation_p.W1133C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	1213						integral to membrane				large_intestine(3)|ovary(2)	5						TCTTGCGGGCCCACAGCATCT	0.572												
WFS1	7466	broad.mit.edu	37	4	6303640	6303640	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:6303640C>T	uc003giy.2	+	8	2284	c.2118C>T	c.(2116-2118)TAC>TAT	p.Y706Y	WFS1_uc003gix.2_Silent_p.Y706Y|WFS1_uc003giz.2_Silent_p.Y524Y	NM_001145853	NP_001139325	O76024	WFS1_HUMAN	wolframin	706					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)	2				Colorectal(103;0.0512)		GCTTCAAGTACGTCCGCGTGA	0.652												
DRD5	1816	broad.mit.edu	37	4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:9783925C>T	uc003gmb.3	+	1	668	c.272C>T	c.(271-273)GCG>GTG	p.A91V		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	91	Helical; Name=2; (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				skin(1)	1					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTTCGTGGCGCTGCTGGTC	0.632												
ZNF518B	85460	broad.mit.edu	37	4	10446426	10446426	+	Silent	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:10446426A>C	uc003gmn.2	-	3	2014	c.1527T>G	c.(1525-1527)GCT>GCG	p.A509A		NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)	4						AACAAACAGCAGCTTTATATG	0.408												
BOD1L	259282	broad.mit.edu	37	4	13604645	13604645	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:13604645C>A	uc003gmz.1	-	10	3996	c.3879G>T	c.(3877-3879)AGG>AGT	p.R1293S	BOD1L_uc010idr.1_Missense_Mutation_p.R630S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	1293							DNA binding			ovary(5)|breast(1)	6						CATACGATTCCCTCAGAGGCA	0.468												
CPEB2	132864	broad.mit.edu	37	4	15009022	15009022	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:15009022C>T	uc003gni.1	+	2	532	c.445C>T	c.(445-447)CGT>TGT	p.R149C	CPEB2_uc003gnj.1_Missense_Mutation_p.R149C|CPEB2_uc003gnk.1_Missense_Mutation_p.R149C|CPEB2_uc003gnl.1_Missense_Mutation_p.R149C|CPEB2_uc003gnm.1_Missense_Mutation_p.R149C|CPEB2_uc003gnn.1_Missense_Mutation_p.R149C	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	149					regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						CAGAGATCATCGTAGAACCGG	0.488												
DCAF16	54876	broad.mit.edu	37	4	17805438	17805438	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:17805438T>C	uc003gpn.2	-	3	1388	c.327A>G	c.(325-327)CCA>CCG	p.P109P	DCAF16_uc003gpo.2_RNA	NM_017741	NP_060211	Q9NXF7	DCA16_HUMAN	DDB1 and CUL4 associated factor 16	109						CUL4 RING ubiquitin ligase complex				ovary(1)	1						ATTCAGGAATTGGTTCCAGTT	0.488												
STIM2	57620	broad.mit.edu	37	4	27010595	27010595	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:27010595A>C	uc003gsh.3	+	11	1961	c.1745A>C	c.(1744-1746)GAC>GCC	p.D582A	STIM2_uc003gsg.3_Missense_Mutation_p.D574A|STIM2_uc010iex.2_Missense_Mutation_p.D574A|STIM2_uc010iey.2_Missense_Mutation_p.D198A	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	487	Cytoplasmic (Potential).				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			central_nervous_system(1)|skin(1)	2		Breast(46;0.0503)				TTAGATGAAGACACACCCCCA	0.428												
WDR19	57728	broad.mit.edu	37	4	39254779	39254779	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:39254779G>C	uc003gtv.2	+	25	2897	c.2743G>C	c.(2743-2745)GTT>CTT	p.V915L	WDR19_uc011byi.1_Missense_Mutation_p.V755L|WDR19_uc003gtw.1_Missense_Mutation_p.V512L	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	915	TPR 4.				cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CAAAGAAGCTGTTGTAGCTTA	0.323												
APBB2	323	broad.mit.edu	37	4	40827943	40827943	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:40827943C>T	uc003gvl.2	-	15	2404	c.1774G>A	c.(1774-1776)GTG>ATG	p.V592M	APBB2_uc010ifu.2_Missense_Mutation_p.V164M|APBB2_uc003gvm.2_Missense_Mutation_p.V570M|APBB2_uc003gvn.2_Missense_Mutation_p.V593M|APBB2_uc003gvk.2_Missense_Mutation_p.V44M	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,	592	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						AAGTACTGCACGTGGAACTTC	0.458												
APBB2	323	broad.mit.edu	37	4	40832595	40832595	+	Splice_Site	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:40832595C>A	uc003gvl.2	-	13	2157	c.1527_splice	c.e13-1	p.R509_splice	APBB2_uc010ifu.2_Splice_Site_p.R81_splice|APBB2_uc003gvm.2_Splice_Site_p.R488_splice|APBB2_uc003gvn.2_Splice_Site_p.R510_splice|APBB2_uc003gvk.2_Splice_Site	NM_173075	NP_775098	Q92870	APBB2_HUMAN	amyloid beta A4 precursor protein-binding,						cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			ovary(2)|large_intestine(1)	3						AGCAAAATCCCTGTGCAAGCA	0.393												
GUF1	60558	broad.mit.edu	37	4	44699460	44699460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:44699460G>A	uc003gww.3	+	16	2078	c.1871G>A	c.(1870-1872)TGT>TAT	p.C624Y	GUF1_uc011bza.1_Missense_Mutation_p.C31Y	NM_021927	NP_068746	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog	624					translation	mitochondrial inner membrane	GTP binding|GTPase activity			upper_aerodigestive_tract(1)	1						TTGGCAAAATGTGTATGTATC	0.289												
FRYL	285527	broad.mit.edu	37	4	48559087	48559087	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:48559087G>A	uc003gyh.1	-	35	4779	c.4174C>T	c.(4174-4176)CTT>TTT	p.L1392F	FRYL_uc003gyk.2_Missense_Mutation_p.L1392F|FRYL_uc003gyg.1_Missense_Mutation_p.L88F|FRYL_uc003gyi.1_Missense_Mutation_p.L281F	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	1392					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						CCATCTGCAAGTGTGGTCCAC	0.433												
KDR	3791	broad.mit.edu	37	4	55958789	55958789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:55958789G>A	uc003has.2	-	22	3366	c.3064C>T	c.(3064-3066)CGA>TGA	p.R1022*	KDR_uc003hat.1_Nonsense_Mutation_p.R1022*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	kinase insert domain receptor precursor	1022	Protein kinase.|Cytoplasmic (Potential).				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTTACCTTTCGCGATGCCAAG	0.458			Mis		NSCLC|angiosarcoma				Familial_Infantile_Hemangioma	TSP Lung(20;0.16)		
AASDH	132949	broad.mit.edu	37	4	57244433	57244433	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:57244433G>A	uc003hbn.2	-	4	702	c.549C>T	c.(547-549)CAC>CAT	p.H183H	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.H30H|AASDH_uc003hbo.2_Silent_p.H83H|AASDH_uc011cab.1_Intron|AASDH_uc010ihc.2_Silent_p.H183H|AASDH_uc003hbp.2_Silent_p.H183H	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	183					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCAGATCCATGTGTTCTTCTG	0.368												
ENAM	10117	broad.mit.edu	37	4	71508780	71508780	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:71508780C>T	uc011caw.1	+	9	1918	c.1637C>T	c.(1636-1638)GCT>GTT	p.A546V		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	546					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			TATCAGCCTGCTGTATACCCT	0.418												
ENAM	10117	broad.mit.edu	37	4	71509090	71509090	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:71509090C>T	uc011caw.1	+	9	2228	c.1947C>T	c.(1945-1947)GTC>GTT	p.V649V		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	649					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			AGGAGATAGTCCCTTATAATG	0.458												
ENAM	10117	broad.mit.edu	37	4	71509960	71509960	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:71509960G>T	uc011caw.1	+	9	3098	c.2817G>T	c.(2815-2817)AGG>AGT	p.R939S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	enamelin precursor	939					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			ovary(3)	3			Lung(101;0.235)			CAGAGAAGAGGGAAAGCCAAA	0.458												
G3BP2	9908	broad.mit.edu	37	4	76587173	76587173	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:76587173G>A	uc003hir.2	-	2	202	c.37C>T	c.(37-39)CGG>TGG	p.R13W	G3BP2_uc003his.2_Missense_Mutation_p.R13W|G3BP2_uc003hit.2_Missense_Mutation_p.R13W	NM_012297	NP_036429	Q9UN86	G3BP2_HUMAN	Ras-GTPase activating protein SH3 domain-binding	13	NTF2.				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)			ACAAACTCCCGCCCTACAAGC	0.358												
SCARB2	950	broad.mit.edu	37	4	77095377	77095377	+	Missense_Mutation	SNP	G	G	A	rs148588727	by1000genomes	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:77095377G>A	uc003hju.1	-	7	1253	c.914C>T	c.(913-915)ACG>ATG	p.T305M	SCARB2_uc011cbu.1_Missense_Mutation_p.T162M	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	305	Lumenal (Potential).				cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity				0			Lung(101;0.196)			ATTGTCTGACGTATTGGCTAA	0.463												
CCDC158	339965	broad.mit.edu	37	4	77283437	77283437	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:77283437C>T	uc003hkb.3	-	12	2015	c.1862G>A	c.(1861-1863)CGG>CAG	p.R621Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	621	Potential.									skin(3)|ovary(2)|pancreas(1)	6						CTCAAGCTCCCGGATCTTTGC	0.388												
ANKRD56	345079	broad.mit.edu	37	4	77816758	77816758	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:77816758T>G	uc003hki.2	-	1	2245	c.2245A>C	c.(2245-2247)AGC>CGC	p.S749R		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	749											0						ATTTCCTTGCTCTTGGCCTTT	0.483												
WDFY3	23001	broad.mit.edu	37	4	85645698	85645698	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:85645698T>C	uc003hpd.2	-	46	7730	c.7322A>G	c.(7321-7323)TAC>TGC	p.Y2441C	WDFY3_uc003hpe.1_Missense_Mutation_p.Y52C	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	2441						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGTCGCATGTAGTACTCTTT	0.448												
PTPN13	5783	broad.mit.edu	37	4	87680177	87680177	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:87680177T>C	uc003hpz.2	+	23	3984	c.3504T>C	c.(3502-3504)CCT>CCC	p.P1168P	PTPN13_uc003hpy.2_Silent_p.P1168P|PTPN13_uc003hqa.2_Silent_p.P1149P|PTPN13_uc003hqb.2_Silent_p.P977P	NM_080683	NP_542414	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type	1168	PDZ 1.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity			ovary(4)|breast(1)|kidney(1)	6		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAAATGCACCTGAAGATGTGA	0.383												
KLHL8	57563	broad.mit.edu	37	4	88104415	88104415	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:88104415T>C	uc011cdb.1	-	4	1277	c.892A>G	c.(892-894)AGC>GGC	p.S298G	KLHL8_uc003hql.1_Missense_Mutation_p.S298G|KLHL8_uc003hqm.1_Missense_Mutation_p.S222G|KLHL8_uc003hqn.1_Missense_Mutation_p.S115G|KLHL8_uc010ikj.1_Intron	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	kelch-like 8	298											0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		ACTGCTCTGCTACTCAAGTGA	0.388												
IBSP	3381	broad.mit.edu	37	4	88732603	88732603	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:88732603C>T	uc003hqx.3	+	7	593	c.495C>T	c.(493-495)AGC>AGT	p.S165S		NM_004967	NP_004958	P21815	SIAL_HUMAN	integrin-binding sialoprotein precursor	165	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification						0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		acgaagaaagcgaagcagaag	0.338												
TSPAN5	10098	broad.mit.edu	37	4	99407915	99407915	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:99407915G>A	uc003hub.2	-	3	603	c.253C>T	c.(253-255)CGG>TGG	p.R85W	TSPAN5_uc011cdz.1_Missense_Mutation_p.R14W	NM_005723	NP_005714	P62079	TSN5_HUMAN	transmembrane 4 superfamily member 9	85	Cytoplasmic (Potential).					integral to membrane					0				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GTGTTTTCCCGTAGCGCTCCA	0.478												
EIF4E	1977	broad.mit.edu	37	4	99823101	99823101	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:99823101T>C	uc003hue.2	-	2	1574	c.51A>G	c.(49-51)ACA>ACG	p.T17T	EIF4E_uc011cea.1_Silent_p.T37T|EIF4E_uc011ceb.1_Silent_p.T17T|EIF4E_uc011cec.1_Silent_p.T17T	NM_001968	NP_001959	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	17					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			lung(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		TCTCCTCTTCTGTAGTCGGGG	0.373												
MTTP	4547	broad.mit.edu	37	4	100530094	100530094	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:100530094G>A	uc003hvc.3	+	13	1985	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T	MTTP_uc011cej.1_Missense_Mutation_p.A604T	NM_000253	NP_000244	P55157	MTP_HUMAN	microsomal triglyceride transfer protein large	577	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			ovary(3)|central_nervous_system(1)	4				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATACATGCTCGCCATTGTTCA	0.398												
CYP2U1	113612	broad.mit.edu	37	4	108870669	108870669	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:108870669G>A	uc003hyp.2	+	4	1535	c.1452G>A	c.(1450-1452)GGG>GGA	p.G484G	CYP2U1_uc011cfi.1_Silent_p.G275G	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U,	484					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TTCCTTTTGGGATAGGTCAGT	0.303												
CFI	3426	broad.mit.edu	37	4	110673647	110673647	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:110673647A>T	uc003hzr.3	-	8	1125	c.917T>A	c.(916-918)ATT>AAT	p.I306N	CFI_uc003hzq.2_Missense_Mutation_p.I103N|CFI_uc011cft.1_Missense_Mutation_p.I314N|CFI_uc003hzs.3_Missense_Mutation_p.I299N	NM_000204	NP_000195	P05156	CFAI_HUMAN	complement factor I preproprotein	306					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGCAGTCAAAATTTCTGTTTC	0.279												
PITX2	5308	broad.mit.edu	37	4	111539779	111539779	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:111539779G>A	uc003iad.2	-	5	1038	c.456C>T	c.(454-456)TGC>TGT	p.C152C	PITX2_uc003iac.2_Silent_p.C159C|PITX2_uc003iae.2_Silent_p.C106C|PITX2_uc010iml.2_Silent_p.C23C|PITX2_uc003iaf.2_Silent_p.C152C	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	152					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		AGCCATTCTTGCATAGCTCGG	0.577												
UGT8	7368	broad.mit.edu	37	4	115597196	115597196	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:115597196C>A	uc003ibs.2	+	6	1900	c.1378C>A	c.(1378-1380)CTA>ATA	p.L460I	UGT8_uc003ibt.2_Missense_Mutation_p.L460I|UGT8_uc011cge.1_RNA	NM_001128174	NP_001121646	Q16880	CGT_HUMAN	UDP-galactose-ceramide galactosyltransferase 8	460					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			ovary(1)|skin(1)	2		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGCCCATCACCTACGTGCCGC	0.418												
FAT4	79633	broad.mit.edu	37	4	126328260	126328260	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:126328260G>A	uc003ifj.3	+	3	5533	c.5533G>A	c.(5533-5535)GTG>ATG	p.V1845M	FAT4_uc011cgp.1_Missense_Mutation_p.V143M	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1845	Cadherin 18.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TTCCAGACCCGTGTACTCTTT	0.408												
FAT4	79633	broad.mit.edu	37	4	126411935	126411935	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:126411935G>T	uc003ifj.3	+	17	13958	c.13958G>T	c.(13957-13959)AGG>ATG	p.R4653M	FAT4_uc011cgp.1_Missense_Mutation_p.R2894M|FAT4_uc003ifi.1_Missense_Mutation_p.R2130M	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4653	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						TCAATCCAGAGGCACAGTCCC	0.507												
HSPA4L	22824	broad.mit.edu	37	4	128739575	128739575	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:128739575G>T	uc003ifm.2	+	13	1927	c.1674G>T	c.(1672-1674)AAG>AAT	p.K558N	HSPA4L_uc010iny.1_Missense_Mutation_p.K517N|HSPA4L_uc011cgr.1_Missense_Mutation_p.K525N	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	558					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						CCAAAACAAAGGTTTGGTTTA	0.313												
ZNF827	152485	broad.mit.edu	37	4	146807029	146807029	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:146807029G>A	uc003ikn.2	-	4	1596	c.1548C>T	c.(1546-1548)GGC>GGT	p.G516G	ZNF827_uc003ikm.2_Silent_p.G516G|ZNF827_uc010iox.2_Silent_p.G166G	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)					AAGGCGAGACGCCAGCCCCTC	0.597												
NR3C2	4306	broad.mit.edu	37	4	149002580	149002580	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:149002580G>A	uc003ilj.3	-	9	3204	c.2870C>T	c.(2869-2871)CCC>CTC	p.P957L	NR3C2_uc003ilk.3_Missense_Mutation_p.P840L|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	957	Steroid-binding.			P->A: Slightly reduces aldosterone binding and transcription transactivation.	regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CAGCATTGCGGGGAACTCTAC	0.602												
DCLK2	166614	broad.mit.edu	37	4	151023845	151023845	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:151023845C>T	uc003ilm.3	+	2	737	c.637C>T	c.(637-639)CGG>TGG	p.R213W	DCLK2_uc003iln.3_Missense_Mutation_p.R213W|DCLK2_uc003ilo.3_Missense_Mutation_p.R213W|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	213	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					AAAAGCCGTGCGGATCCTTCT	0.418												
DCLK2	166614	broad.mit.edu	37	4	151114360	151114360	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:151114360A>G	uc003ilm.3	+	3	927	c.827A>G	c.(826-828)TAT>TGT	p.Y276C	DCLK2_uc003iln.3_Missense_Mutation_p.Y276C|DCLK2_uc003ilo.3_Missense_Mutation_p.Y276C|DCLK2_uc003ilp.3_RNA	NM_001040260	NP_001035350	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2 isoform a	276	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			ovary(3)	3	all_hematologic(180;0.151)					AAATTTCGTTATGCCCAAGAT	0.368												
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:153247366C>T	uc003ims.2	-	10	1585	c.1436G>A	c.(1435-1437)CGA>CAA	p.R479Q	FBXW7_uc011cii.1_Missense_Mutation_p.R479Q|FBXW7_uc003imt.2_Missense_Mutation_p.R479Q|FBXW7_uc011cih.1_Missense_Mutation_p.R303Q|FBXW7_uc003imq.2_Missense_Mutation_p.R399Q|FBXW7_uc003imr.2_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	479	WD 3.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			Mis|N|D|F		colorectal|endometrial|T-ALL							
FHDC1	85462	broad.mit.edu	37	4	153897541	153897541	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:153897541C>T	uc003inf.2	+	11	3173	c.3098C>T	c.(3097-3099)CCG>CTG	p.P1033L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1033					actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)					CCCCGTGTCCCGAGCTTTGCC	0.632												
PPID	5481	broad.mit.edu	37	4	159630906	159630906	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:159630906A>G	uc003iqc.2	-	10	1207	c.1095T>C	c.(1093-1095)TAT>TAC	p.Y365Y		NM_005038	NP_005029	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	365					protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity				0	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		ACATTTTTGCATATACTGCCT	0.303												
RAPGEF2	9693	broad.mit.edu	37	4	160253767	160253767	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:160253767G>A	uc003iqg.3	+	11	1880	c.1570G>A	c.(1570-1572)GCC>ACC	p.A524T		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	524					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)		AAAAAGTAAAGCCAACACTGT	0.408												
FSTL5	56884	broad.mit.edu	37	4	162307355	162307355	+	Silent	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:162307355A>T	uc003iqh.2	-	16	2524	c.2088T>A	c.(2086-2088)ACT>ACA	p.T696T	FSTL5_uc003iqi.2_Silent_p.T695T|FSTL5_uc010iqv.2_Silent_p.T686T|uc010iqu.1_RNA	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	696						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGACATATGGAGTGCCCGTCA	0.488												
MFAP3L	9848	broad.mit.edu	37	4	170926737	170926737	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:170926737C>T	uc003isp.3	-	2	470	c.292G>A	c.(292-294)GGA>AGA	p.G98R	MFAP3L_uc003isn.3_5'Flank	NM_021647	NP_067679	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like isoform	98	Extracellular (Potential).|Ig-like C2-type.					integral to membrane|plasma membrane				ovary(1)	1		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTACCTCCTCCTCTCTCCTTC	0.408												
AADAT	51166	broad.mit.edu	37	4	171008379	171008379	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:171008379C>A	uc003isr.2	-	3	599	c.257G>T	c.(256-258)TGG>TTG	p.W86L	AADAT_uc003iss.2_Missense_Mutation_p.W86L|AADAT_uc003ist.2_Missense_Mutation_p.W90L	NM_016228	NP_057312	Q8N5Z0	AADAT_HUMAN	kynurenine aminotransferase II	86					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)	CTGTTTTAGCCAGGACAAAAG	0.343												
SORBS2	8470	broad.mit.edu	37	4	186545449	186545449	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:186545449G>A	uc003iyl.2	-	13	1980	c.1122C>T	c.(1120-1122)ACC>ACT	p.T374T	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.T474T|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.T278T|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.T488T|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	374						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TGGGAGAGACGGTTTCTTCCG	0.542												
FAT1	2195	broad.mit.edu	37	4	187524858	187524858	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:187524858C>A	uc003izf.2	-	19	11010	c.10822G>T	c.(10822-10824)GGG>TGG	p.G3608W		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3608	Extracellular (Potential).|Cadherin 33.				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						AGGTATTGCCCTATGTCTAGC	0.483										HNSCC(5;0.00058)		
ZFP42	132625	broad.mit.edu	37	4	188924151	188924151	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:188924151G>A	uc003izg.1	+	3	435	c.190G>A	c.(190-192)GGA>AGA	p.G64R	ZFP42_uc003izh.1_Missense_Mutation_p.G64R|ZFP42_uc003izi.1_Missense_Mutation_p.G64R	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	64					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TCAGGCTCTCGGAGGGGATGA	0.507												
ADCY2	108	broad.mit.edu	37	5	7626360	7626360	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:7626360G>A	uc003jdz.1	+	4	718	c.651G>A	c.(649-651)CAG>CAA	p.Q217Q		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	217	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						TCGCTCTTCAGCAAACATATC	0.438												
CTNND2	1501	broad.mit.edu	37	5	11364843	11364843	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:11364843G>A	uc003jfa.1	-	8	1482	c.1337C>T	c.(1336-1338)CCG>CTG	p.P446L	CTNND2_uc010itt.2_Missense_Mutation_p.P355L|CTNND2_uc011cmy.1_Missense_Mutation_p.P109L|CTNND2_uc011cmz.1_Missense_Mutation_p.P13L|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P13L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	446					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						GTGTGCTGGCGGCAGAGGGTC	0.622												
TRIO	7204	broad.mit.edu	37	5	14504649	14504649	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:14504649C>T	uc003jff.2	+	55	8565	c.8559C>T	c.(8557-8559)GTC>GTT	p.V2853V	TRIO_uc003jfg.2_RNA	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2853	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587												
ZNF622	90441	broad.mit.edu	37	5	16465635	16465635	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:16465635A>G	uc003jfq.2	-	1	260	c.140T>C	c.(139-141)TTC>TCC	p.F47S		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	zinc finger protein 622	47						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(1)	1						TCGCTCCTGGAAGCCCTCGGC	0.662												
CDH10	1008	broad.mit.edu	37	5	24537611	24537611	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:24537611C>A	uc003jgr.1	-	3	736	c.404G>T	c.(403-405)AGA>ATA	p.R135I	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	135	Cadherin 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		CCTCAGAGTTCTTCTGTTAAT	0.393										HNSCC(23;0.051)		
AGXT2	64902	broad.mit.edu	37	5	35025913	35025913	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:35025913G>T	uc003jjf.2	-	9	997	c.918C>A	c.(916-918)GCC>GCA	p.A306A	AGXT2_uc003jje.1_5'UTR|AGXT2_uc011com.1_Silent_p.A306A	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	alanine-glyoxylate aminotransferase 2 precursor	306					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			ovary(3)|skin(1)	4	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	CCAGCTCAAAGGCTTCCTTTA	0.493												
C5orf34	375444	broad.mit.edu	37	5	43488034	43488034	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:43488034A>C	uc003jnz.1	-	13	2014	c.1697T>G	c.(1696-1698)CTT>CGT	p.L566R		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	566										breast(1)	1	Lung NSC(6;2.07e-05)					TATCTTTTCAAGTTCAGAAGC	0.318												
HCN1	348980	broad.mit.edu	37	5	45262407	45262407	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:45262407C>T	uc003jok.2	-	8	2314	c.2289G>A	c.(2287-2289)CCG>CCA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	763	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1						CTTCATTTTTCGGCGTGGAGC	0.443												
ISL1	3670	broad.mit.edu	37	5	50685764	50685764	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:50685764A>G	uc003jor.2	+	4	1311	c.763A>G	c.(763-765)ACT>GCT	p.T255A		NM_002202	NP_002193	P61371	ISL1_HUMAN	islet-1	255	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3		Lung NSC(810;0.000845)|Breast(144;0.0411)				CAATGACAAAACTGTGAGTGG	0.577												
ANKRD55	79722	broad.mit.edu	37	5	55407543	55407543	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:55407543G>A	uc003jqu.2	-	10	1184	c.1032C>T	c.(1030-1032)AAC>AAT	p.N344N	ANKRD55_uc003jqt.2_Silent_p.N56N	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55 isoform 1	343										skin(1)	1		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GGTTGAGCACGTTGAACCGTC	0.512												
GPBP1	65056	broad.mit.edu	37	5	56546862	56546862	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:56546862A>G	uc003jrh.3	+	10	2328	c.1054A>G	c.(1054-1056)ATT>GTT	p.I352V	GPBP1_uc010iwg.2_Missense_Mutation_p.I372V|GPBP1_uc003jri.3_Missense_Mutation_p.I181V|GPBP1_uc003jrj.3_Missense_Mutation_p.I344V|GPBP1_uc003jrk.3_Missense_Mutation_p.I359V|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGAAAATGAAATTCCTCAAGA	0.383												
ACTBL2	345651	broad.mit.edu	37	5	56778014	56778014	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:56778014T>C	uc003jrm.2	-	1	623	c.521A>G	c.(520-522)CAT>CGT	p.H174R		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	actin, beta-like 2	174						cytoplasm|cytoskeleton	ATP binding			ovary(3)	3		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TAGAATGGCATGAGGCAGGGC	0.552												
RNF180	285671	broad.mit.edu	37	5	63509571	63509571	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:63509571C>T	uc003jti.2	+	4	528	c.418C>T	c.(418-420)CAT>TAT	p.H140Y	RNF180_uc003jth.3_Missense_Mutation_p.H140Y|RNF180_uc010iws.2_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	ring finger protein 180 isoform 1	140	Cytoplasmic (Potential).					integral to membrane|nuclear envelope	zinc ion binding				0		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		ATACTTGTCACATCCTAGAGT	0.473												
TRIM23	373	broad.mit.edu	37	5	64887740	64887740	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:64887740A>G	uc003jty.2	-	11	1667	c.1581T>C	c.(1579-1581)ACT>ACC	p.T527T	TRIM23_uc003jtw.2_Silent_p.T527T|TRIM23_uc003jtx.2_Silent_p.T527T	NM_001656	NP_001647	P36406	TRI23_HUMAN	ADP-ribosylation factor domain protein 1 isoform	527	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|lung(1)	4		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TGAGTAGTTCAGTGATTTCTT	0.398												
SV2C	22987	broad.mit.edu	37	5	75597266	75597266	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:75597266T>A	uc003kei.1	+	12	2030	c.1896T>A	c.(1894-1896)AGT>AGA	p.S632R		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	632	Extracellular (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)		TCGGCACCAGTGAATCCATGA	0.498												
ARSB	411	broad.mit.edu	37	5	78077720	78077720	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:78077720C>T	uc003kfq.2	-	7	2577	c.1291G>A	c.(1291-1293)GCT>ACT	p.A431T		NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	431					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		CTAATTGCAGCATGGACAGAT	0.473												
MTX3	345778	broad.mit.edu	37	5	79279521	79279521	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:79279521G>A	uc010jag.2	-	9	952	c.925C>T	c.(925-927)CGG>TGG	p.R309W	MTX3_uc010jah.2_3'UTR|MTX3_uc003kge.3_Missense_Mutation_p.R248W	NM_001010891	NP_001010891	Q5HYI7	MTX3_HUMAN	metaxin 3	309					protein targeting to mitochondrion	mitochondrial outer membrane					0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGCGAAAGCCGTTGGAAGGAA	0.443												
FAM151B	167555	broad.mit.edu	37	5	79837534	79837534	+	Silent	SNP	C	C	T	rs138264758	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:79837534C>T	uc003kgv.1	+	6	857	c.714C>T	c.(712-714)TCC>TCT	p.S238S	FAM151B_uc010jal.1_RNA	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	hypothetical protein LOC167555	238											0		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		ATAACTATTCCGTTGAAGATT	0.323												
RASGRF2	5924	broad.mit.edu	37	5	80521544	80521544	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:80521544G>A	uc003kha.1	+	27	3669	c.3669G>A	c.(3667-3669)ACG>ACA	p.T1223T	RNU5E_uc011cto.1_Intron|RASGRF2_uc011ctn.1_RNA	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Ras protein-specific guanine	1223	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATGAAGATACGCTATATGAGC	0.468												
CKMT2	1160	broad.mit.edu	37	5	80550855	80550855	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:80550855G>A	uc003khc.3	+	6	733	c.491G>A	c.(490-492)CGG>CAG	p.R164Q	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Missense_Mutation_p.R164Q|CKMT2_uc003khd.3_Missense_Mutation_p.R164Q|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	164	Phosphagen kinase C-terminal.|ATP.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGTCTTCTCGGGTGCGCACT	0.652												
SSBP2	23635	broad.mit.edu	37	5	80724431	80724431	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:80724431A>T	uc003kho.2	-	16	1240	c.1029T>A	c.(1027-1029)AAT>AAA	p.N343K	RNU5E_uc011cto.1_Intron|SSBP2_uc010jar.2_Missense_Mutation_p.N228K|SSBP2_uc003khn.2_Missense_Mutation_p.N217K|SSBP2_uc003khp.2_Missense_Mutation_p.N351K|SSBP2_uc011ctp.1_Missense_Mutation_p.N323K|SSBP2_uc011ctq.1_Missense_Mutation_p.N321K|SSBP2_uc011ctr.1_Intron	NM_012446	NP_036578	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	343					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	haematopoietic_and_lymphoid_tissue(4)|skin(1)	5		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GATTTAAGAAATTTCCCCCCA	0.363												
TMEM161B	153396	broad.mit.edu	37	5	87502851	87502851	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:87502851T>C	uc003kjc.2	-	6	718	c.593A>G	c.(592-594)GAA>GGA	p.E198G	TMEM161B_uc011cty.1_Missense_Mutation_p.E187G|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctz.1_Missense_Mutation_p.E65G|TMEM161B_uc011ctx.1_Missense_Mutation_p.E16G	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	198						integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		ATTACCTGTTTCAAGTCCAAA	0.289												
ANKRD32	84250	broad.mit.edu	37	5	94030563	94030563	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:94030563C>T	uc003kkr.3	+	21	2803	c.2723C>T	c.(2722-2724)GCT>GTT	p.A908V	ANKRD32_uc003kks.2_Missense_Mutation_p.A272V	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	908										ovary(2)	2		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGAGGAATGCTAAGGGAGAA	0.368												
ST8SIA4	7903	broad.mit.edu	37	5	100191911	100191911	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:100191911T>G	uc003knk.2	-	4	1021	c.693A>C	c.(691-693)AAA>AAC	p.K231N		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	231	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTCTCCTCCTTTGACCATGA	0.418												
YTHDC2	64848	broad.mit.edu	37	5	112862461	112862461	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:112862461T>C	uc003kqn.2	+	4	837	c.654T>C	c.(652-654)ACT>ACC	p.T218T	YTHDC2_uc010jce.1_Silent_p.T218T|YTHDC2_uc010jcf.1_Intron	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	218	Helicase ATP-binding.|ATP (By similarity).						ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TAGGAGAAACTGGGTCTGGAA	0.249												
LMNB1	4001	broad.mit.edu	37	5	126168436	126168436	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:126168436G>A	uc003kud.1	+	10	2030	c.1662G>A	c.(1660-1662)GAG>GAA	p.E554E	LMNB1_uc010jdb.1_RNA|LMNB1_uc011cxb.1_Silent_p.E344E	NM_005573	NP_005564	P20700	LMNB1_HUMAN	lamin B1	554	Glu-rich (highly acidic; could be involved in chromatin binding).|Tail.				cellular component disassembly involved in apoptosis	lamin filament|nuclear inner membrane	protein binding|structural molecule activity			kidney(1)|central_nervous_system(1)	2		all_cancers(142;0.103)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.033)|OV - Ovarian serous cystadenocarcinoma(64;0.0398)|all cancers(49;0.0903)		CTGAAGAAGAGGAGGAGGAGG	0.318												
FBN2	2201	broad.mit.edu	37	5	127599223	127599223	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:127599223C>T	uc003kuu.2	-	63	8525	c.8086G>A	c.(8086-8088)GTG>ATG	p.V2696M		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	2696	EGF-like 47; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACTCATTCACGTCGTGGCAG	0.607												
SLC27A6	28965	broad.mit.edu	37	5	128365383	128365383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:128365383C>T	uc003kuy.2	+	10	2062	c.1666C>T	c.(1666-1668)CGA>TGA	p.R556*	SLC27A6_uc003kuz.2_Nonsense_Mutation_p.R556*	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	556					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCTTGTCCACGATTTTTAAG	0.294												
ACSL6	23305	broad.mit.edu	37	5	131326646	131326646	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:131326646T>C	uc010jdo.1	-	3	293	c.210A>G	c.(208-210)GCA>GCG	p.A70A	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Silent_p.A95A|ACSL6_uc003kvy.1_Silent_p.A95A|ACSL6_uc003kwb.2_Silent_p.A60A|ACSL6_uc003kvz.1_Silent_p.A35A|ACSL6_uc003kwa.1_Silent_p.A81A|ACSL6_uc003kwc.1_Silent_p.A35A|ACSL6_uc003kwd.1_Silent_p.A70A|ACSL6_uc010jdn.1_Silent_p.A70A	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	70	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGATCGCCGTGCCCCGCCAC	0.607												
SLC22A4	6583	broad.mit.edu	37	5	131647935	131647935	+	Missense_Mutation	SNP	G	G	A	rs11568509	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:131647935G>A	uc003kwq.2	+	2	640	c.475G>A	c.(475-477)GTG>ATG	p.V159M	SLC22A4_uc010jdq.1_RNA|uc003kwr.3_RNA	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	159	Helical; Name=2; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CGGCTCCTTCGTGTCCGGGCA	0.577												
RAD50	10111	broad.mit.edu	37	5	131926968	131926968	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:131926968T>C	uc003kxi.2	+	10	1892	c.1505T>C	c.(1504-1506)ATG>ACG	p.M502T	RAD50_uc003kxh.2_Missense_Mutation_p.M363T	NM_005732	NP_005723	Q92878	RAD50_HUMAN	RAD50 homolog isoform 1	502	Potential.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTTAAAAATGGAAGTAATA	0.368								Homologous_recombination				
PCBD2	84105	broad.mit.edu	37	5	134246093	134246093	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:134246093A>G	uc010jdz.2	+	2	173	c.153A>G	c.(151-153)GGA>GGG	p.G51G	PCBD2_uc011cxw.1_Silent_p.G51G	NM_032151	NP_115527	Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase 2	51					positive regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process		4-alpha-hydroxytetrahydrobiopterin dehydratase activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGCAGCAGGATGGTCGGAAT	0.393												
DNAJC18	202052	broad.mit.edu	37	5	138758500	138758500	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:138758500A>G	uc003len.2	-	6	681	c.676T>C	c.(676-678)TAT>CAT	p.Y226H	DNAJC18_uc010jff.2_Missense_Mutation_p.Y164H	NM_152686	NP_689899	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	226					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			ovary(1)|kidney(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AATGCAGAATATGTAGTCTGA	0.239												
NRG2	9542	broad.mit.edu	37	5	139260458	139260458	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:139260458C>T	uc003lex.1	-	3	1199	c.974G>A	c.(973-975)CGG>CAG	p.R325Q	NRG2_uc003lev.1_Missense_Mutation_p.R325Q|NRG2_uc003lew.1_Missense_Mutation_p.R325Q|NRG2_uc003ley.1_Missense_Mutation_p.R325Q	NM_004883	NP_004874	O14511	NRG2_HUMAN	neuregulin 2 isoform 1	325	Ig-like C2-type.|Extracellular (Potential).				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			pancreas(2)|breast(2)|ovary(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTAAAGCCGGCCCCGGAC	0.632												
PCDHA1	56147	broad.mit.edu	37	5	140167635	140167635	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140167635C>T	uc003lhb.2	+	1	1760	c.1760C>T	c.(1759-1761)GCG>GTG	p.A587V	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.A587V	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1 isoform 1 precursor	587	Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTGGGTGCGGGTCATGTG	0.672												
PCDHA2	56146	broad.mit.edu	37	5	140176220	140176220	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140176220C>T	uc003lhd.2	+	1	1777	c.1671C>T	c.(1669-1671)GAC>GAT	p.D557D	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Silent_p.D557D|PCDHA2_uc011czy.1_Silent_p.D557D	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687												
PCDHA8	56140	broad.mit.edu	37	5	140222221	140222221	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140222221G>A	uc003lhs.2	+	1	1315	c.1315G>A	c.(1315-1317)GCC>ACC	p.A439T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.A439T	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	439	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCCACCGCCAGCTTGTC	0.667												
PCDHA12	56137	broad.mit.edu	37	5	140256301	140256301	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140256301G>A	uc003lic.2	+	1	1371	c.1244G>A	c.(1243-1245)CGC>CAC	p.R415H	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.R415H	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	415	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGACCGCGAGAGCGTG	0.612												
PCDHB2	56133	broad.mit.edu	37	5	140474624	140474624	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140474624G>A	uc003lil.2	+	1	388	c.250G>A	c.(250-252)GGG>AGG	p.G84R	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	84	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGCAGACCGGGGATTTGTT	0.507												
PCDHB7	56129	broad.mit.edu	37	5	140554636	140554636	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140554636C>T	uc003lit.2	+	1	2394	c.2220C>T	c.(2218-2220)ACC>ACT	p.T740T	PCDHB8_uc011dai.1_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	740	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGGCACCGGGACCCTAT	0.617												
PCDHB8	56128	broad.mit.edu	37	5	140558582	140558582	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140558582A>G	uc011dai.1	+	1	1153	c.967A>G	c.(967-969)AGA>GGA	p.R323G	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	323	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCGAGGCGAGAGATGCTGG	0.413												
PCDHGA1	56114	broad.mit.edu	37	5	140711018	140711018	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140711018C>A	uc003lji.1	+	1	767	c.767C>A	c.(766-768)CCG>CAG	p.P256Q	PCDHGA1_uc011dan.1_Missense_Mutation_p.P256Q	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	256	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAACGTGCCGCTGGGTACT	0.493												
PCDHGA6	56109	broad.mit.edu	37	5	140753898	140753898	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140753898G>A	uc003ljy.1	+	1	248	c.248G>A	c.(247-249)AGC>AAC	p.S83N	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Missense_Mutation_p.S83N	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	83	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAAACGGCAGCTTGGTCACC	0.567												
PCDHGB6	56100	broad.mit.edu	37	5	140789013	140789013	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140789013C>T	uc003lkj.1	+	1	1244	c.1244C>T	c.(1243-1245)ACA>ATA	p.T415I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.T415I	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6 isoform 1	415	Extracellular (Potential).|Cadherin 4.				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)			CGAGAGCAGACACCAGAATAC	0.458												
PCDHGB7	56099	broad.mit.edu	37	5	140799786	140799786	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140799786T>C	uc003lkn.1	+	1	2505	c.2360T>C	c.(2359-2361)CTA>CCA	p.L787P	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_uc003lkm.2_Missense_Mutation_p.L787P|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7 isoform 1	787	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATAGCATGCTACTGGCTAGC	0.333												
DIAPH1	1729	broad.mit.edu	37	5	140955848	140955848	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:140955848A>G	uc003llb.3	-	14	1551	c.1410T>C	c.(1408-1410)GAT>GAC	p.D470D	DIAPH1_uc003llc.3_Silent_p.D461D|DIAPH1_uc010jgc.1_5'Flank	NM_005219	NP_005210	O60610	DIAP1_HUMAN	diaphanous 1 isoform 1	470	Potential.				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)			CCTTTGTCTTATCAATCATTT	0.373												
KCTD16	57528	broad.mit.edu	37	5	143586874	143586874	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:143586874C>A	uc003lnm.1	+	3	1226	c.597C>A	c.(595-597)TCC>TCA	p.S199S	KCTD16_uc003lnn.1_Silent_p.S199S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	potassium channel tetramerisation domain	199						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(2)|ovary(1)|skin(1)	4		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GAAGGATTTCCTTGGCAAAAG	0.473												
PLAC8L1	153770	broad.mit.edu	37	5	145483816	145483816	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:145483816A>G	uc003lnv.2	-	1	131	c.59T>C	c.(58-60)ATA>ACA	p.I20T	PLAC8L1_uc011dbp.1_RNA	NM_001029869	NP_001025040	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	20											0			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTGAGTATATGTTGAGTAA	0.403												
SPINK5	11005	broad.mit.edu	37	5	147473990	147473990	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147473990G>A	uc003lox.2	+	9	813	c.740G>A	c.(739-741)CGT>CAT	p.R247H	SPINK5_uc010jgq.1_RNA|SPINK5_uc010jgs.1_Missense_Mutation_p.R219H|SPINK5_uc010jgr.2_Missense_Mutation_p.R228H|SPINK5_uc003low.2_Missense_Mutation_p.R247H|SPINK5_uc003loy.2_Missense_Mutation_p.R247H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	247	Kazal-like 4.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCAGTCCGTGGCCCTGAC	0.403												
SPINK14	408187	broad.mit.edu	37	5	147554938	147554938	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147554938T>C	uc003loz.1	+	4	271	c.271T>C	c.(271-273)TTT>CTT	p.F91L		NM_001001325	NP_001001325	Q6IE38	ISK14_HUMAN	Kazal type serine protease inhibitor 5-like 2	91	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity				0						AAGAATCAGGTTTTACCATGA	0.269												
HTR4	3360	broad.mit.edu	37	5	147928374	147928374	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147928374C>T	uc003lpn.2	-	4	374	c.210G>A	c.(208-210)TCG>TCA	p.S70S	HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Silent_p.S70S|HTR4_uc003lpj.1_Silent_p.S70S|HTR4_uc003lpk.2_Silent_p.S70S|HTR4_uc011dby.1_Silent_p.S70S|HTR4_uc003lpl.2_Silent_p.S70S|HTR4_uc003lpm.2_Silent_p.S70S|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Silent_p.S70S	NM_000870	NP_000861	Q13639	5HT4R_HUMAN	serotonin 5-HT4 receptor isoform b	70	Helical; Name=2; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	TCACCAGCACCGAAACCAGCA	0.383												
SH3TC2	79628	broad.mit.edu	37	5	148392271	148392271	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:148392271A>G	uc003lpu.2	-	13	3232	c.3080T>C	c.(3079-3081)ATC>ACC	p.I1027T	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.I671T|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.I574T|SH3TC2_uc010jgx.2_Missense_Mutation_p.I1020T	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1027	TPR 4.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCTCCTTGATGCATGTGAG	0.577												
SH3TC2	79628	broad.mit.edu	37	5	148406142	148406142	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:148406142T>C	uc003lpu.2	-	12	3198	c.3046A>G	c.(3046-3048)ACC>GCC	p.T1016A	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.T660A|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.T563A|SH3TC2_uc010jgx.2_Missense_Mutation_p.T1009A|SH3TC2_uc003lpv.1_3'UTR|SH3TC2_uc011dbz.1_3'UTR	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1016	TPR 4.						binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCTGGCGGTATTTAGGTTC	0.542												
SH3TC2	79628	broad.mit.edu	37	5	148407408	148407408	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:148407408G>A	uc003lpu.2	-	11	2039	c.1887C>T	c.(1885-1887)AGC>AGT	p.S629S	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.S273S|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.S176S|SH3TC2_uc010jgx.2_Silent_p.S622S|SH3TC2_uc003lpv.1_Silent_p.S176S|SH3TC2_uc011dbz.1_Silent_p.S514S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	629							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCAGCGGGCTGCTGCCCA	0.672												
FAT2	2196	broad.mit.edu	37	5	150924599	150924599	+	Missense_Mutation	SNP	C	C	T	rs145039507		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:150924599C>T	uc003lue.3	-	9	6102	c.6089G>A	c.(6088-6090)CGG>CAG	p.R2030Q	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	2030	Extracellular (Potential).|Cadherin 17.				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)			CTGCTGCTCCCGGTCAAACGC	0.512												
FAT2	2196	broad.mit.edu	37	5	150930358	150930358	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:150930358A>G	uc003lue.3	-	7	4384	c.4371T>C	c.(4369-4371)GTT>GTC	p.V1457V	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1457	Extracellular (Potential).|Cadherin 13.				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)			TGTCCTGGGGAACTCTGACTT	0.527												
NMUR2	56923	broad.mit.edu	37	5	151784474	151784474	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:151784474G>A	uc003luv.2	-	1	367	c.201C>T	c.(199-201)TGC>TGT	p.C67C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	67	Helical; Name=1; (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAATCACCAGGCACACCAGGA	0.587												
RNF145	153830	broad.mit.edu	37	5	158621757	158621757	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:158621757G>T	uc003lxp.2	-	3	573	c.260C>A	c.(259-261)GCT>GAT	p.A87D	RNF145_uc011ddy.1_Missense_Mutation_p.A101D|RNF145_uc003lxo.1_Missense_Mutation_p.A115D|RNF145_uc011ddz.1_Missense_Mutation_p.A104D|RNF145_uc010jiq.1_Missense_Mutation_p.A117D|RNF145_uc011dea.1_Missense_Mutation_p.A103D	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	87	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGAGCAGAGCAGTCAAAAA	0.343												
CCNJL	79616	broad.mit.edu	37	5	159738871	159738871	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:159738871G>A	uc003lyb.1	-	2	312	c.60C>T	c.(58-60)CGC>CGT	p.R20R	CCNJL_uc011dee.1_Silent_p.R20R|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Silent_p.R20R	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	cyclin J-like	20	Cyclin N-terminal.					nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGACCTTCTCGCGCAGGGTGC	0.637												
MAT2B	27430	broad.mit.edu	37	5	162943622	162943622	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:162943622A>G	uc003lzk.2	+	5	733	c.625A>G	c.(625-627)AAG>GAG	p.K209E	MAT2B_uc003lzj.2_Missense_Mutation_p.K198E|MAT2B_uc003lzl.1_Missense_Mutation_p.K209E|MAT2B_uc003lzm.2_5'Flank	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	methionine adenosyltransferase II, beta isoform	209					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			upper_aerodigestive_tract(1)	1	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GTTCAGCAACAAGTCAGCAAA	0.473												
MSX2	4488	broad.mit.edu	37	5	174156184	174156184	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:174156184C>T	uc003mcy.2	+	2	490	c.402C>T	c.(400-402)TGC>TGT	p.C134C		NM_002449	NP_002440	P35548	MSX2_HUMAN	msh homeobox 2	134					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTACCACCTGCACCCTGAGGA	0.498												
DDX41	51428	broad.mit.edu	37	5	176942974	176942974	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:176942974C>A	uc003mho.2	-	5	411	c.390G>T	c.(388-390)AAG>AAT	p.K130N	DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_Translation_Start_Site|DDX41_uc003mhp.2_Translation_Start_Site|DDX41_uc003mhq.1_Translation_Start_Site	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	DEAD-box protein abstrakt	130					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding				0	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TAGCCATCTCCTTCACTGACA	0.512												
ZNF454	285676	broad.mit.edu	37	5	178392951	178392951	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:178392951A>G	uc003mjo.1	+	5	1817	c.1546A>G	c.(1546-1548)AGA>GGA	p.R516G	ZNF454_uc010jkz.1_Missense_Mutation_p.R516G	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	516	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		TCAGCATCAGAGACATCATAT	0.383												
C5orf45	51149	broad.mit.edu	37	5	179271187	179271187	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:179271187C>T	uc003mla.2	-	4	300	c.256G>A	c.(256-258)GTG>ATG	p.V86M	C5orf45_uc003mky.2_Missense_Mutation_p.V83M|C5orf45_uc011dgt.1_Missense_Mutation_p.V86M|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.2_Intron|C5orf45_uc003mlb.2_Translation_Start_Site	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	hypothetical protein LOC51149 isoform 1	86											0						TGGTGTCCCACGTTTTCTTCT	0.483												
TBC1D9B	23061	broad.mit.edu	37	5	179290918	179290918	+	Missense_Mutation	SNP	C	C	T	rs113335971	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:179290918C>T	uc003mlh.2	-	22	3320	c.3283G>A	c.(3283-3285)GCA>ACA	p.A1095T	TBC1D9B_uc003mli.2_Missense_Mutation_p.A1078T|TBC1D9B_uc003mlj.2_Missense_Mutation_p.A1077T|TBC1D9B_uc003mlf.2_Missense_Mutation_p.A169T|TBC1D9B_uc003mlg.2_Missense_Mutation_p.A254T|TBC1D9B_uc011dgv.1_Missense_Mutation_p.A254T	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1095						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCTGGCTGCGTCCTGATGC	0.647												
RREB1	6239	broad.mit.edu	37	6	7226757	7226757	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:7226757G>A	uc003mxc.2	+	9	1155	c.765G>A	c.(763-765)GCG>GCA	p.A255A	RREB1_uc003mxb.2_Silent_p.A255A|RREB1_uc010jnx.2_Silent_p.A255A	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	255	C2H2-type 5.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCACAACGCGCTTGTCCACA	0.498												
RNF182	221687	broad.mit.edu	37	6	13977897	13977897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:13977897C>T	uc003nbe.2	+	3	965	c.547C>T	c.(547-549)CGG>TGG	p.R183W	RNF182_uc003nbf.2_Missense_Mutation_p.R183W|RNF182_uc003nbg.2_Missense_Mutation_p.R183W	NM_152737	NP_689950	Q8N6D2	RN182_HUMAN	ring finger protein 182	183						cytoplasm|integral to membrane|intracellular membrane-bounded organelle	protein binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GACATCCATCCGGGTGTTAGT	0.488												
ATXN1	6310	broad.mit.edu	37	6	16306697	16306697	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:16306697T>C	uc003nbt.2	-	9	3282	c.2311A>G	c.(2311-2313)AAG>GAG	p.K771E	ATXN1_uc010jpi.2_Missense_Mutation_p.K771E|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	771	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CACCTCCTCTTCCTCGTTGCC	0.532												
KIF13A	63971	broad.mit.edu	37	6	17826310	17826310	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:17826310C>T	uc003ncg.3	-	15	1683	c.1578G>A	c.(1576-1578)TGG>TGA	p.W526*	KIF13A_uc003ncf.2_Nonsense_Mutation_p.W526*|KIF13A_uc003nch.3_Nonsense_Mutation_p.W526*|KIF13A_uc003nci.3_Nonsense_Mutation_p.W526*|KIF13A_uc003ncj.2_Nonsense_Mutation_p.W202*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	kinesin family member 13A isoform a	526					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTCACCATGCCACAGCTGGG	0.418												
NHLRC1	378884	broad.mit.edu	37	6	18122083	18122083	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:18122083C>T	uc003ncl.1	-	1	769	c.755G>A	c.(754-756)CGG>CAG	p.R252Q		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	252	NHL 4.				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TTCAGTTCTCCGAAGGACCCC	0.627												
GPLD1	2822	broad.mit.edu	37	6	24460553	24460553	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:24460553T>C	uc003ned.1	-	12	1073	c.962A>G	c.(961-963)AAC>AGC	p.N321S	GPLD1_uc010jpr.1_Missense_Mutation_p.N158S|GPLD1_uc010jps.1_Missense_Mutation_p.N321S	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	321						extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3						TTCAGTATAGTTTATATTCCT	0.363												
SLC17A2	10246	broad.mit.edu	37	6	25914895	25914895	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:25914895A>T	uc011dkb.1	-	10	1298	c.1215T>A	c.(1213-1215)TAT>TAA	p.Y405*	SLC17A2_uc011dkc.1_Missense_Mutation_p.M356K|SLC17A2_uc003nfl.2_Missense_Mutation_p.M356K			O00624	NPT3_HUMAN	SubName: Full=Solute carrier family 17 (Sodium phosphate), member 2, isoform CRA_b; SubName: Full=Putative uncharacterized protein SLC17A2;	405					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			ovary(1)	1						GGAAACTTGCATATCTGTGGG	0.428												
ZNF165	7718	broad.mit.edu	37	6	28053645	28053645	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:28053645A>C	uc003nkg.2	+	3	1471	c.387A>C	c.(385-387)AGA>AGC	p.R129S	ZNF165_uc003nkh.2_Missense_Mutation_p.R129S|ZNF165_uc003nki.3_Missense_Mutation_p.R129S	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	129					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						ATTTGGAGAGAGGCACTGATG	0.522												
GABBR1	2550	broad.mit.edu	37	6	29589896	29589896	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:29589896G>A	uc003nmt.3	-	9	1386	c.1050C>T	c.(1048-1050)CCC>CCT	p.P350P	GABBR1_uc003nmp.3_Silent_p.P233P|GABBR1_uc003nms.3_Silent_p.P233P|GABBR1_uc003nmu.3_Silent_p.P288P|GABBR1_uc011dlr.1_Silent_p.P173P|GABBR1_uc011dls.1_Silent_p.P350P	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor 1	350	Extracellular (Potential).				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.P350L(1)		ovary(5)|liver(1)|skin(1)	7					Baclofen(DB00181)|Progabide(DB00837)	GGTTTTTGACGGGCACAGCTG	0.557												
BAT2	7916	broad.mit.edu	37	6	31602535	31602535	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:31602535T>C	uc003nvb.3	+	21	5190	c.4941T>C	c.(4939-4941)AGT>AGC	p.S1647S	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.S1647S	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1647	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0						CTCAGATGAGTCAGTCTGACA	0.552												
CLIC1	1192	broad.mit.edu	37	6	31701700	31701700	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:31701700T>C	uc003nwr.2	-	3	452	c.188A>G	c.(187-189)CAG>CGG	p.Q63R	CLIC1_uc003rje.2_Missense_Mutation_p.Q63R	NM_001288	NP_001279	O00299	CLIC1_HUMAN	chloride intracellular channel 1	63	Required for insertion into the membrane.			Q -> E (in Ref. 1; AAC25675 and 3; AAD26137).	signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			ovary(1)|central_nervous_system(1)	2						GAATGGGAGCTGCCCCCCTGG	0.562												
HLA-DMA	3108	broad.mit.edu	37	6	32917066	32917066	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:32917066G>A	uc003ocm.2	-	4	849	c.763C>T	c.(763-765)CGG>TGG	p.R255W		NM_006120	NP_006111	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM	255						integral to membrane|MHC class II protein complex					0						CAAGGCTTCCGGAAGTAGATG	0.567												
HLA-DOA	3111	broad.mit.edu	37	6	32977255	32977255	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:32977255G>A	uc003ocr.2	-	1	135	c.59C>T	c.(58-60)CCG>CTG	p.P20L	HLA-DOA_uc010juj.2_5'UTR|HLA-DOA_uc010jui.2_Missense_Mutation_p.P20L	NM_002119	NP_002110	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO	20					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0						TGCCTCCTGCGGGCTCAGGAG	0.612												
HLA-DPB1	3115	broad.mit.edu	37	6	33048483	33048483	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:33048483C>T	uc003ocu.1	+	2	194	c.135C>T	c.(133-135)TAC>TAT	p.Y45Y	HLA-DPA1_uc003oct.1_5'UTR|HLA-DPB1_uc011dqn.1_RNA|HLA-DPB1_uc011dqo.1_RNA|HLA-DPB1_uc011dqp.1_Silent_p.Y44Y|HLA-DPB1_uc011dqq.1_Translation_Start_Site	NM_002121	NP_002112	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP	45	Extracellular (Potential).|Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				ovary(1)	1						AGGAATGCTACGCGTTTAATG	0.597												
FKBP5	2289	broad.mit.edu	37	6	35547992	35547992	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:35547992T>C	uc011dte.1	-	9	1050	c.847A>G	c.(847-849)AAA>GAA	p.K283E	FKBP5_uc003okx.2_Missense_Mutation_p.K283E|FKBP5_uc011dtf.1_Missense_Mutation_p.K104E|FKBP5_uc003oky.2_Missense_Mutation_p.K283E	NM_001145776	NP_001139248	Q13451	FKBP5_HUMAN	FK506 binding protein 5 isoform 1	283	TPR 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			ovary(1)	1						TGCATGTATTTGCCTCCCTAG	0.423												
LHFPL5	222662	broad.mit.edu	37	6	35773711	35773711	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:35773711C>A	uc003olg.1	+	1	641	c.264C>A	c.(262-264)TCC>TCA	p.S88S		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	88						integral to membrane				skin(1)	1						ACTTCTCCTCCATCCCCTCTA	0.557												
SLC26A8	116369	broad.mit.edu	37	6	35960350	35960350	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:35960350G>A	uc003olm.2	-	6	840	c.729C>T	c.(727-729)TCC>TCT	p.S243S	SLC26A8_uc003oln.2_Silent_p.S243S|SLC26A8_uc003oll.2_Intron	NM_052961	NP_443193	Q96RN1	S26A8_HUMAN	solute carrier family 26, member 8 isoform a	243	Helical; (Potential).				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2						AAGTCAGCTGGGACAGCATGA	0.453												
BRPF3	27154	broad.mit.edu	37	6	36168494	36168494	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:36168494C>T	uc003olv.3	+	2	619	c.395C>T	c.(394-396)CCG>CTG	p.P132L	BRPF3_uc010jwb.2_Missense_Mutation_p.P132L|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.P132L	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	132					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			ovary(1)|skin(1)	2						GAAGCACCCCCGCTGCCTGCT	0.567												
DNAH8	1769	broad.mit.edu	37	6	38781845	38781845	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:38781845G>A	uc003ooe.1	+	23	3222	c.2622G>A	c.(2620-2622)AAG>AAA	p.K874K		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						ATGGGCGAAAGCAGTCAGAAG	0.323												
TCTE1	202500	broad.mit.edu	37	6	44250020	44250020	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:44250020C>T	uc003oxi.2	-	4	1279	c.1123G>A	c.(1123-1125)GAG>AAG	p.E375K	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	375	LRR 3.									ovary(2)|skin(2)	4	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCATCCTCGATGCAGTTG	0.612												
RUNX2	860	broad.mit.edu	37	6	45405710	45405710	+	Missense_Mutation	SNP	G	G	A	rs147009083		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:45405710G>A	uc011dvx.1	+	5	817	c.607G>A	c.(607-609)GTC>ATC	p.V203I	RUNX2_uc011dvy.1_Missense_Mutation_p.V203I|RUNX2_uc003oxt.2_Missense_Mutation_p.V189I	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	203	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						GACCATAACCGTCTTCACAAA	0.393												
HCRTR2	3062	broad.mit.edu	37	6	55142277	55142277	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:55142277G>A	uc003pcl.2	+	5	1177	c.862G>A	c.(862-864)GCT>ACT	p.A288T	HCRTR2_uc010jzv.2_RNA	NM_001526	NP_001517	O43614	OX2R_HUMAN	orexin receptor 2	288	Cytoplasmic (Potential).				feeding behavior	integral to plasma membrane	neuropeptide receptor activity			ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1)	6	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCGGATGAGCGCTGTGGCGGC	0.502												
DST	667	broad.mit.edu	37	6	56496731	56496731	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:56496731G>T	uc003pdf.2	-	28	3842	c.3814C>A	c.(3814-3816)CTG>ATG	p.L1272M	DST_uc003pcz.3_Missense_Mutation_p.L1094M|DST_uc011dxj.1_Missense_Mutation_p.L1123M|DST_uc011dxk.1_Missense_Mutation_p.L1134M|DST_uc003pcy.3_Missense_Mutation_p.L768M|DST_uc003pdb.2_Missense_Mutation_p.L768M|DST_uc003pdc.3_Missense_Mutation_p.L768M|DST_uc003pdd.3_Missense_Mutation_p.L768M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	1094					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCTTTCCAGGGGAGTTCGA	0.383												
COL9A1	1297	broad.mit.edu	37	6	70990716	70990716	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:70990716C>T	uc003pfg.3	-	9	1062	c.903G>A	c.(901-903)CCG>CCA	p.P301P	COL9A1_uc003pfe.3_5'Flank|COL9A1_uc003pff.3_Silent_p.P58P	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	301	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4						CCGGGGGGCCCGGGGGGCCCT	0.572												
COL12A1	1303	broad.mit.edu	37	6	75861629	75861629	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:75861629T>C	uc003phs.2	-	20	4120	c.3954A>G	c.(3952-3954)GCA>GCG	p.A1318A	COL12A1_uc003pht.2_Silent_p.A154A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	1318	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TCTTTGAAGGTGCTTCAACAT	0.473												
COL12A1	1303	broad.mit.edu	37	6	75899338	75899338	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:75899338C>T	uc003phs.2	-	6	754	c.588G>A	c.(586-588)CAG>CAA	p.Q196Q	COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	196	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						TTTGGTAGTACTGATTTAAGT	0.358												
TTK	7272	broad.mit.edu	37	6	80718203	80718203	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:80718203T>A	uc003pjc.2	+	4	537	c.463T>A	c.(463-465)TCA>ACA	p.S155T	TTK_uc003pjb.3_Missense_Mutation_p.S155T	NM_003318	NP_003309	P33981	TTK_HUMAN	TTK protein kinase	155					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1)	11		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATTTGAACTGTCACAAGGTAA	0.299												
UBE2CBP	90025	broad.mit.edu	37	6	83667139	83667139	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:83667139G>A	uc003pjp.2	-	9	1149	c.1041C>T	c.(1039-1041)AGC>AGT	p.S347S	UBE2CBP_uc011dyx.1_RNA	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	ubiquitin-conjugating enzyme E2C binding	347						cytoplasm	ligase activity			ovary(1)	1		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)		BRCA - Breast invasive adenocarcinoma(397;0.0944)		GCGGGTGGACGCTGATGTCAC	0.423												
PGM3	5238	broad.mit.edu	37	6	83884176	83884176	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:83884176T>C	uc003pjv.2	-	10	1199	c.1159A>G	c.(1159-1161)ATA>GTA	p.I387V	PGM3_uc003pjw.2_Missense_Mutation_p.I306V|PGM3_uc011dyz.1_Missense_Mutation_p.I415V	NM_015599	NP_056414	O95394	AGM1_HUMAN	phosphoglucomutase 3	387					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity				0		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GATTGTTTTATCTTCATTTCA	0.348												
ZNF292	23036	broad.mit.edu	37	6	87964590	87964590	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:87964590C>G	uc003plm.3	+	8	1284	c.1243C>G	c.(1243-1245)CAG>GAG	p.Q415E		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCAGCCAGACCAGAAATATGA	0.383												
GABRR2	2570	broad.mit.edu	37	6	90024926	90024927	+	Missense_Mutation	DNP	CT	CT	GG			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:90024926_90024927CT>GG	uc003pnb.2	-	1	41_42	c.33_34AG>CC	c.(31-36)ACAGGC>ACCCGC	p.G12R		NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	12					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		TTCCAGTAGCCTGTGGCAGAGC	0.515												
MDN1	23195	broad.mit.edu	37	6	90494779	90494779	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:90494779A>T	uc003pnn.1	-	9	1517	c.1401T>A	c.(1399-1401)TAT>TAA	p.Y467*	MDN1_uc003pno.1_Translation_Start_Site|MDN1_uc003pnp.1_Nonsense_Mutation_p.Y467*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	467					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)		TTTTGGTCCAATATTTGTCTA	0.443												
USP45	85015	broad.mit.edu	37	6	99958034	99958034	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:99958034A>G	uc003ppx.2	-	2	596	c.63T>C	c.(61-63)ACT>ACC	p.T21T	USP45_uc003ppw.2_5'Flank|USP45_uc003ppy.2_RNA|USP45_uc010kcq.1_Silent_p.T21T|USP45_uc003ppz.2_Silent_p.T21T|USP45_uc003pqa.2_Silent_p.T21T	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	21					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|breast(1)	2		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CATGAGGTACAGTAGGCCTTT	0.343												
SIM1	6492	broad.mit.edu	37	6	100838636	100838636	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:100838636C>T	uc003pqj.3	-	11	2109	c.1902G>A	c.(1900-1902)CAG>CAA	p.Q634Q	SIM1_uc010kcu.2_Silent_p.Q634Q	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	634	Single-minded C-terminal.				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)		CCTCTCTCTGCTGGATATGGT	0.488												
ASCC3	10973	broad.mit.edu	37	6	101075830	101075830	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:101075830A>G	uc003pqk.2	-	28	4738	c.4409T>C	c.(4408-4410)GTA>GCA	p.V1470A		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1470	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTTCGAGATACAATGACCTC	0.408												
SCML4	256380	broad.mit.edu	37	6	108066255	108066255	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:108066255G>T	uc010kdf.2	-	5	831	c.580C>A	c.(580-582)CGA>AGA	p.R194R	SCML4_uc003prz.3_Silent_p.R136R|SCML4_uc011eam.1_Silent_p.R194R|SCML4_uc003psa.3_Silent_p.R165R	NM_198081	NP_932347	Q8N228	SCML4_HUMAN	sex comb on midleg-like 4	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		AGGAGGCTTCGGCACAGCTTG	0.587												
REV3L	5980	broad.mit.edu	37	6	111710360	111710360	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:111710360G>A	uc003puy.3	-	7	1134	c.811C>T	c.(811-813)CGG>TGG	p.R271W	REV3L_uc003pux.3_Missense_Mutation_p.R193W|REV3L_uc003puz.3_Missense_Mutation_p.R193W	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	271					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)		TTTCTTCGCCGTTGCTTTTCA	0.358								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
DSE	29940	broad.mit.edu	37	6	116747852	116747852	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:116747852C>A	uc003pws.2	+	3	726	c.532C>A	c.(532-534)CTT>ATT	p.L178I	DSE_uc011ebf.1_Missense_Mutation_p.L178I|DSE_uc011ebg.1_Missense_Mutation_p.L197I|DSE_uc003pwt.2_Missense_Mutation_p.L178I	NM_001080976	NP_001074445	Q9UL01	DSE_HUMAN	dermatan sulfate epimerase precursor	178					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			ovary(1)	1		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		GGAGAAGTTTCTTGAAGTGAT	0.463												
STX7	8417	broad.mit.edu	37	6	132781989	132781989	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:132781989G>A	uc003qdg.2	-	10	944	c.694C>T	c.(694-696)CGC>TGC	p.R232C	STX7_uc011ecg.1_RNA|STX7_uc011ech.1_Missense_Mutation_p.R57C	NM_003569	NP_003560	O15400	STX7_HUMAN	syntaxin 7	232	Cytoplasmic (Potential).				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity				0	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		CTGGATTTGCGCTGCAGACGC	0.353												
TNFAIP3	7128	broad.mit.edu	37	6	138196150	138196150	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:138196150C>T	uc003qhr.2	+	3	530	c.464C>T	c.(463-465)ACG>ATG	p.T155M	TNFAIP3_uc003qhs.2_Missense_Mutation_p.T155M	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	155	TRAF-binding.|OTU.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)|p.T155T(1)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TTTGTTGAAACGGGGCTTTGC	0.512			D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma							
SHPRH	257218	broad.mit.edu	37	6	146243472	146243472	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:146243472A>G	uc003qlf.2	-	20	4131	c.3732T>C	c.(3730-3732)TGT>TGC	p.C1244C	SHPRH_uc003qld.2_Silent_p.C1248C|SHPRH_uc003qle.2_Silent_p.C1248C|SHPRH_uc003qlg.1_Silent_p.C800C|SHPRH_uc003qlh.2_Silent_p.C169C|SHPRH_uc003qli.1_Silent_p.C169C	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase isoform a	1244					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CATCAGCTTTACAAAAGACAC	0.299												
RAB32	10981	broad.mit.edu	37	6	146865142	146865142	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:146865142C>T	uc003qln.1	+	1	315	c.135C>T	c.(133-135)TAC>TAT	p.Y45Y		NM_006834	NP_006825	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	45					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding				0		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		TCAAGCGCTACGTCCACCAGC	0.557												
ZC3H12D	340152	broad.mit.edu	37	6	149777945	149777945	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:149777945G>A	uc003qmn.1	-	3	607	c.537C>T	c.(535-537)GAC>GAT	p.D179D	PPIL4_uc010kic.2_Intron|ZC3H12D_uc003qmm.2_Silent_p.D179D|ZC3H12D_uc010kid.2_Silent_p.D179D	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	179						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding				0		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TGTAGCGGTCGTCGTAGCAGA	0.657												
SYNE1	23345	broad.mit.edu	37	6	152718029	152718029	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:152718029T>G	uc010kiw.2	-	50	8039	c.7437A>C	c.(7435-7437)AAA>AAC	p.K2479N	SYNE1_uc003qot.3_Missense_Mutation_p.K2486N|SYNE1_uc003qou.3_Missense_Mutation_p.K2479N|SYNE1_uc010kjb.1_Missense_Mutation_p.K2462N	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2479	Spectrin 4.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGACAATTTGTTTAGACAAAT	0.383										HNSCC(10;0.0054)		
TIAM2	26230	broad.mit.edu	37	6	155578187	155578187	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:155578187G>A	uc003qqb.2	+	29	6311	c.5038G>A	c.(5038-5040)GTC>ATC	p.V1680I	TIAM2_uc003qqe.2_Missense_Mutation_p.V1680I|TIAM2_uc010kjj.2_Missense_Mutation_p.V1242I|TIAM2_uc003qqf.2_Missense_Mutation_p.V1056I|TIAM2_uc011efl.1_Missense_Mutation_p.V1024I|TIAM2_uc003qqg.2_Missense_Mutation_p.V992I|TIAM2_uc003qqh.2_Missense_Mutation_p.V605I|uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1680					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			ovary(3)|breast(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGAATTCAGTGTCCAGAGTTT	0.428												
ARID1B	57492	broad.mit.edu	37	6	157405929	157405929	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:157405929C>T	uc003qqn.2	+	5	2110	c.1958C>T	c.(1957-1959)GCG>GTG	p.A653V	ARID1B_uc003qqo.2_Missense_Mutation_p.A666V|ARID1B_uc003qqp.2_Missense_Mutation_p.A653V|ARID1B_uc003qqq.1_Missense_Mutation_p.A95V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	711	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCCCACATGCGTCCCCTCAT	0.612												
TULP4	56995	broad.mit.edu	37	6	158923930	158923930	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:158923930G>A	uc003qrf.2	+	13	4592	c.3235G>A	c.(3235-3237)GAC>AAC	p.D1079N	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1079					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCGCCCGCGACCGCACCGA	0.687												
RPS6KA2	6196	broad.mit.edu	37	6	166864694	166864694	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:166864694T>C	uc003qvb.1	-	13	1322	c.1103A>G	c.(1102-1104)AAC>AGC	p.N368S	RPS6KA2_uc011ego.1_Missense_Mutation_p.N279S|RPS6KA2_uc010kkl.1_Missense_Mutation_p.N279S|RPS6KA2_uc003qvc.1_Missense_Mutation_p.N376S|RPS6KA2_uc003qvd.1_Missense_Mutation_p.N393S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	368	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GTGATGAGCGTTTGCACTCGG	0.532												
KIF25	3834	broad.mit.edu	37	6	168430309	168430309	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:168430309G>T	uc003qwk.1	+	2	306	c.44G>T	c.(43-45)AGG>ATG	p.R15M	KIF25_uc010kkt.1_RNA|KIF25_uc003qwl.1_Missense_Mutation_p.R15M	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	kinesin family member 25 isoform 1	15	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(1)|pancreas(1)	2		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		AAGCAGGCCAGGCCTGGGTCT	0.587												
INTS1	26173	broad.mit.edu	37	7	1527082	1527082	+	Silent	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:1527082C>G	uc003skn.2	-	20	2621	c.2520G>C	c.(2518-2520)GGG>GGC	p.G840G	INTS1_uc003skp.1_Silent_p.G187G	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	840					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCGGGGGGGCCCCCTGAGGG	0.677												
EIF3B	8662	broad.mit.edu	37	7	2418770	2418770	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:2418770A>G	uc003slx.2	+	17	2317	c.2234A>G	c.(2233-2235)GAA>GGA	p.E745G	EIF3B_uc003sly.2_Missense_Mutation_p.E745G|EIF3B_uc003sma.2_Missense_Mutation_p.E473G|EIF3B_uc003smb.2_RNA	NM_003751	NP_003742	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3,	745					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity				0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CATGCATAGGAATTGGTGGAG	0.547												
SDK1	221935	broad.mit.edu	37	7	4218194	4218194	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:4218194G>A	uc003smx.2	+	35	5213	c.5074G>A	c.(5074-5076)GTG>ATG	p.V1692M	SDK1_uc010kso.2_Missense_Mutation_p.V948M|SDK1_uc003smy.2_Missense_Mutation_p.V179M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1692	Fibronectin type-III 10.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGCGCGCCCGTGGAGGTCTT	0.592												
GLCCI1	113263	broad.mit.edu	37	7	8062115	8062115	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:8062115A>G	uc003srk.2	+	3	1171	c.612A>G	c.(610-612)ACA>ACG	p.T204T		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	204											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		ttttaaaGACACCTAGCTGTT	0.343												
ICA1	3382	broad.mit.edu	37	7	8198199	8198199	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:8198199C>T	uc003srm.2	-	7	730	c.663G>A	c.(661-663)GCG>GCA	p.A221A	ICA1_uc010ktr.2_Silent_p.A221A|ICA1_uc003srl.2_Silent_p.A209A|ICA1_uc003srn.3_Silent_p.A147A|ICA1_uc003srp.3_Silent_p.A220A|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Silent_p.A221A|ICA1_uc003srr.2_Silent_p.A220A|ICA1_uc003sro.3_Silent_p.A221A|ICA1_uc011jxg.1_Silent_p.A221A|ICA1_uc003srs.1_Silent_p.A221A	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	221	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TGCATCTGCTCGCTCCAAGAA	0.373												
PHF14	9678	broad.mit.edu	37	7	11080314	11080314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:11080314G>A	uc003sry.1	+	12	2527	c.2092G>A	c.(2092-2094)GCA>ACA	p.A698T	PHF14_uc011jxi.1_Missense_Mutation_p.A413T|PHF14_uc003srz.2_Missense_Mutation_p.A698T|PHF14_uc011jxj.1_Missense_Mutation_p.A413T	NM_014660	NP_055475	O94880	PHF14_HUMAN	PHD finger protein 14 isoform 2	698							zinc ion binding			kidney(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GAATATACCGGCAATTTTGCG	0.348												
SCIN	85477	broad.mit.edu	37	7	12668796	12668796	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:12668796A>G	uc003ssn.3	+	9	1478	c.1268A>G	c.(1267-1269)GAC>GGC	p.D423G	SCIN_uc010ktt.2_RNA|SCIN_uc003sso.3_Missense_Mutation_p.D176G	NM_001112706	NP_001106177	Q9Y6U3	ADSV_HUMAN	scinderin isoform 1	423	Ca(2+)-dependent actin binding.|Gelsolin-like 4.				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)		TATGGTGGTGACTGCTACATC	0.408												
ABCB5	340273	broad.mit.edu	37	7	20793131	20793131	+	Splice_Site	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:20793131T>C	uc003suw.3	+	18	2787	c.2241_splice	c.e18+2	p.K747_splice	ABCB5_uc010kuh.2_Splice_Site_p.K1192_splice	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5						regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						AGTGAGAAGGTAACATCATTT	0.373												
DNAH11	8701	broad.mit.edu	37	7	21742378	21742378	+	Silent	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:21742378T>A	uc003svc.2	+	38	6283	c.6252T>A	c.(6250-6252)GCT>GCA	p.A2084A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2084					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TGGTTGTGGCTGGATCTCTGA	0.403									Kartagener_syndrome			
HOXA3	3200	broad.mit.edu	37	7	27148111	27148111	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:27148111C>T	uc011jzl.1	-	3	955	c.755G>A	c.(754-756)GGC>GAC	p.G252D	HOXA3_uc011jzk.1_Missense_Mutation_p.G94D|HOXA3_uc003syk.2_Missense_Mutation_p.G252D	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	252					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2						CATGCCCTTGCCCTTCTGATC	0.592												
TAX1BP1	8887	broad.mit.edu	37	7	27855995	27855995	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:27855995G>A	uc003szl.2	+	14	1950	c.1792G>A	c.(1792-1794)GCA>ACA	p.A598T	TAX1BP1_uc011jzo.1_Missense_Mutation_p.A598T|TAX1BP1_uc003szk.2_Missense_Mutation_p.A598T|TAX1BP1_uc011jzp.1_Missense_Mutation_p.A441T	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	598	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			AGAAAATCCAGCAGAAAGGAA	0.323												
PDE1C	5137	broad.mit.edu	37	7	31862835	31862835	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:31862835G>A	uc003tcm.1	-	14	1903	c.1434C>T	c.(1432-1434)GCC>GCT	p.A478A	PDE1C_uc003tcn.1_Silent_p.A478A|PDE1C_uc003tco.1_Silent_p.A538A|PDE1C_uc003tcr.2_Silent_p.A478A|PDE1C_uc003tcs.2_Silent_p.A478A	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	phosphodiesterase 1C	478	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			skin(3)|central_nervous_system(1)	4			GBM - Glioblastoma multiforme(11;0.216)			CTGATCGCTTGGCATCTGACG	0.443												
ELMO1	9844	broad.mit.edu	37	7	37251045	37251045	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:37251045G>A	uc003tfk.1	-	13	1339	c.1032C>T	c.(1030-1032)AGC>AGT	p.S344S	ELMO1_uc011kbc.1_Silent_p.S248S|ELMO1_uc010kxg.1_Silent_p.S344S	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	344	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						GTTTCTCCATGCTGCCACTGC	0.468												
CDK13	8621	broad.mit.edu	37	7	40132819	40132819	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:40132819C>A	uc003thh.3	+	13	3953	c.3671C>A	c.(3670-3672)CCT>CAT	p.P1224H	CDK13_uc003thi.3_Missense_Mutation_p.P1164H|CDK13_uc003thj.2_Missense_Mutation_p.P275H|CDK13_uc003thk.2_Missense_Mutation_p.P157H	NM_003718	NP_003709	Q14004	CDK13_HUMAN	cell division cycle 2-like 5 isoform 1	1224					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			lung(2)|skin(2)|ovary(1)	5						CCTCCAGAACCTAGCACTCCG	0.453												
AEBP1	165	broad.mit.edu	37	7	44153301	44153301	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:44153301T>C	uc003tkb.2	+	21	3223	c.2918T>C	c.(2917-2919)ATC>ACC	p.I973T	AEBP1_uc003tkc.3_Missense_Mutation_p.I548T|AEBP1_uc003tkd.2_Missense_Mutation_p.I223T	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	973	Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GACTATGACATCGGGGCCACT	0.592												
GCK	2645	broad.mit.edu	37	7	44187337	44187337	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:44187337C>T	uc003tkl.2	-	7	1245	c.775G>A	c.(775-777)GCC>ACC	p.A259T	GCK_uc003tkh.1_5'Flank|GCK_uc003tki.1_5'Flank|GCK_uc003tkj.1_Missense_Mutation_p.A258T|GCK_uc003tkk.1_Missense_Mutation_p.A260T	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	259			A -> T (in MODY2).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4						TCCCCGAAGGCGCCCCACTCG	0.642												
COBL	23242	broad.mit.edu	37	7	51098597	51098597	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:51098597T>C	uc003tpr.3	-	9	1601	c.1416A>G	c.(1414-1416)AAA>AAG	p.K472K	COBL_uc003tps.2_Silent_p.K529K|COBL_uc011kcl.1_Silent_p.K472K|COBL_uc003tpp.3_Silent_p.K258K|COBL_uc003tpq.3_Silent_p.K413K|COBL_uc003tpo.3_Silent_p.K14K	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	472										skin(3)|ovary(2)	5	Glioma(55;0.08)					CTGTGACAGCTTTTTCAGTTC	0.413												
SEC61G	23480	broad.mit.edu	37	7	54823470	54823470	+	Splice_Site	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:54823470A>G	uc003tqf.2	-	3	288	c.197_splice	c.e3+1	p.V66_splice	SEC61G_uc003tqg.2_Splice_Site_p.V66_splice	NM_001012456	NP_001012474	P60059	SC61G_HUMAN	Sec61 gamma subunit						protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			lung(1)	1	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			AAGTTTACTTACACAATGATG	0.333												
ZNF138	7697	broad.mit.edu	37	7	64275387	64275387	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:64275387T>C	uc011kdp.1	+	2	271	c.95T>C	c.(94-96)GTG>GCG	p.V32A	ZNF138_uc003ttg.2_5'UTR|ZNF138_uc011kdq.1_Missense_Mutation_p.V32A|ZNF138_uc003tth.2_Intron|ZNF138_uc010kzs.2_Missense_Mutation_p.V26A	NM_001160183	NP_001153655	B4DFX2	B4DFX2_HUMAN	zinc finger protein 138 isoform 2	32					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding				0		Lung NSC(55;0.0795)|all_lung(88;0.18)				TATAGGCATGTGATGTTAGAG	0.393												
TYW1	55253	broad.mit.edu	37	7	66479405	66479405	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:66479405C>A	uc003tvn.2	+	5	576	c.427C>A	c.(427-429)CTA>ATA	p.L143I	TYW1_uc010lai.2_RNA	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	radical S-adenosyl methionine and flavodoxin	143	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			skin(1)	1		Lung NSC(55;0.0846)|all_lung(88;0.183)				CACTGACGGCCTACCAACTGA	0.408												
SPDYE5	442590	broad.mit.edu	37	7	75131017	75131017	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:75131017C>T	uc011kfy.1	+	6	1028	c.892C>T	c.(892-894)CGG>TGG	p.R298W		NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	speedy homolog E5	298	Arg-rich.										0						CCAGAAACGTCGGTTCCAGTT	0.597												
FGL2	10875	broad.mit.edu	37	7	76825822	76825822	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:76825822C>T	uc003ugb.2	-	2	1134	c.1094G>A	c.(1093-1095)CGA>CAA	p.R365Q	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	fibrinogen-like 2 precursor	365	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			skin(2)	2						AGAAGGATATCGATCATTGTC	0.398												
PCLO	27445	broad.mit.edu	37	7	82580130	82580130	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:82580130C>T	uc003uhx.2	-	6	10063	c.9774G>A	c.(9772-9774)GAG>GAA	p.E3258E	PCLO_uc003uhv.2_Silent_p.E3258E|PCLO_uc010lec.2_Silent_p.E223E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3189	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						ACTGCAGCTCCTCCAACTTTT	0.458												
PCLO	27445	broad.mit.edu	37	7	82584742	82584742	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:82584742G>A	uc003uhx.2	-	5	5816	c.5527C>T	c.(5527-5529)CGT>TGT	p.R1843C	PCLO_uc003uhv.2_Missense_Mutation_p.R1843C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	1774					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						GCAGCCTGACGTAACTCTTCT	0.448												
STEAP4	79689	broad.mit.edu	37	7	87913386	87913386	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:87913386A>G	uc003ujs.2	-	2	304	c.199T>C	c.(199-201)TAT>CAT	p.Y67H	STEAP4_uc010lek.2_Missense_Mutation_p.Y67H|STEAP4_uc003ujt.2_Missense_Mutation_p.Y67H	NM_024636	NP_078912	Q687X5	STEA4_HUMAN	tumor necrosis factor, alpha-induced protein 9	67					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0	Esophageal squamous(14;0.00802)					GCTTCTGAATAGCTCAAGACT	0.428												
CCDC132	55610	broad.mit.edu	37	7	92926504	92926504	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:92926504T>C	uc003umo.2	+	16	1438	c.1310T>C	c.(1309-1311)TTA>TCA	p.L437S	CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.L407S|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.L157S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132 isoform a	437											0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTGAAGTTTTACAGGAATCT	0.313												
OCM2	4951	broad.mit.edu	37	7	97617763	97617763	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:97617763G>A	uc003upc.2	-	2	159	c.159C>T	c.(157-159)AAC>AAT	p.N53N		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	53	EF-hand 1.|1 (Potential).						calcium ion binding				0						CGCTCTGGTCGTTGTCTATGA	0.537												
CYP3A5	1577	broad.mit.edu	37	7	99262895	99262895	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:99262895T>C	uc003urq.2	-	7	651	c.564A>G	c.(562-564)TCA>TCG	p.S188S	ZNF498_uc003urn.2_Intron|CYP3A5_uc003urp.2_Silent_p.S8S|CYP3A5_uc003urr.2_Silent_p.S75S|CYP3A5_uc011kiy.1_Silent_p.S178S|CYP3A5_uc003urs.2_Intron|CYP3A5_uc010lgg.2_Intron	NM_000777	NP_000768	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A,	188					alkaloid catabolic process|drug catabolic process|oxidative demethylation|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding				0	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				Alfentanil(DB00802)|Clopidogrel(DB00758)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Indinavir(DB00224)|Irinotecan(DB00762)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Mephenytoin(DB00532)|Midazolam(DB00683)|Mifepristone(DB00834)|Phenytoin(DB00252)|Quinine(DB00468)|Saquinavir(DB01232)|Tacrolimus(DB00864)|Troleandomycin(DB01361)|Verapamil(DB00661)|Vincristine(DB00541)	TCACTCCAAATGATGTGCCAG	0.413												
OR2AE1	81392	broad.mit.edu	37	7	99474306	99474306	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:99474306G>A	uc003usc.1	-	1	351	c.351C>T	c.(349-351)GTC>GTT	p.V117V		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CATAGGACATGACAGCTAAGA	0.478												
ZNF3	7551	broad.mit.edu	37	7	99669329	99669329	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:99669329C>T	uc003usq.2	-	6	1085	c.778G>A	c.(778-780)GAT>AAT	p.D260N	ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.D260N|ZNF3_uc010lgj.2_Missense_Mutation_p.D224N|ZNF3_uc003uss.2_Missense_Mutation_p.D267N|ZNF3_uc003ust.3_Missense_Mutation_p.D260N	NM_032924	NP_116313	P17036	ZNF3_HUMAN	zinc finger protein 3 isoform 2	260	C2H2-type 3.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACAATCACTACATTCA	0.483												
C7orf51	222950	broad.mit.edu	37	7	100086071	100086071	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100086071G>A	uc003uvd.1	+	4	886	c.727G>A	c.(727-729)GGC>AGC	p.G243S	C7orf51_uc003uve.1_Missense_Mutation_p.G25S	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	243	Poly-Gly.									skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGGTGGGGGCCCGACCCC	0.647												
EPHB4	2050	broad.mit.edu	37	7	100420130	100420130	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100420130G>A	uc003uwn.1	-	4	1062	c.571C>T	c.(571-573)CAC>TAC	p.H191Y	EPHB4_uc003uwm.1_Missense_Mutation_p.H98Y|EPHB4_uc010lhj.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkf.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkg.1_Missense_Mutation_p.H191Y|EPHB4_uc011kkh.1_Missense_Mutation_p.H191Y	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	191	Extracellular (Potential).|Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)					TAGAAGAGGTGCAGGGATAGC	0.612												
SLC12A9	56996	broad.mit.edu	37	7	100453458	100453458	+	Silent	SNP	C	C	T	rs140479354	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100453458C>T	uc003uwp.2	+	4	589	c.447C>T	c.(445-447)GCC>GCT	p.A149A	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank|SLC12A9_uc003uwv.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	149	Extracellular (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCTTCGGGGCCGGTCTGTGCT	0.617												
SRRT	51593	broad.mit.edu	37	7	100478930	100478930	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100478930C>T	uc003uwy.2	+	4	415	c.147C>T	c.(145-147)CGC>CGT	p.R49R	SRRT_uc010lhl.1_Silent_p.R49R|SRRT_uc003uxa.2_Silent_p.R49R|SRRT_uc003uwz.2_Silent_p.R49R	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	49	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						GCCGTGAGCGCCGTAGTCGGG	0.448												
MUC17	140453	broad.mit.edu	37	7	100682851	100682851	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:100682851C>T	uc003uxp.1	+	3	8207	c.8154C>T	c.(8152-8154)GAC>GAT	p.D2718D	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2718	Extracellular (Potential).|43.|59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCTGTTGACACCAGCACAC	0.483												
ORAI2	80228	broad.mit.edu	37	7	102087353	102087353	+	Missense_Mutation	SNP	G	G	A	rs149386719		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:102087353G>A	uc010lhz.1	+	4	854	c.619G>A	c.(619-621)GTG>ATG	p.V207M	ORAI2_uc003uzj.2_Missense_Mutation_p.V207M|ORAI2_uc003uzk.2_Missense_Mutation_p.V207M|ORAI2_uc011kks.1_Missense_Mutation_p.V130M	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	207	Helical; (Potential).					integral to membrane	protein binding			ovary(1)|kidney(1)	2						CATGGTGCCCGTGGGCCTCAT	0.672												
CDHR3	222256	broad.mit.edu	37	7	105653434	105653434	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:105653434G>A	uc003vdl.3	+	9	1289	c.1181G>A	c.(1180-1182)GGC>GAC	p.G394D	CDHR3_uc003vdk.2_Missense_Mutation_p.G42D|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Missense_Mutation_p.G381D|CDHR3_uc011klt.1_Missense_Mutation_p.G306D|CDHR3_uc003vdn.2_Missense_Mutation_p.G111D	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	hypothetical protein LOC222256 precursor	394	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						GTGGGGAGCGGCAGCAGATTT	0.473												
LAMB1	3912	broad.mit.edu	37	7	107580698	107580698	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:107580698G>A	uc003vew.2	-	25	3832	c.3497C>T	c.(3496-3498)ACG>ATG	p.T1166M	LAMB1_uc003vev.2_Missense_Mutation_p.T1190M	NM_002291	NP_002282	P07942	LAMB1_HUMAN	laminin, beta 1 precursor	1166	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	8					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTACCCTCGCGTGCACTTGTC	0.602												
NRCAM	4897	broad.mit.edu	37	7	107807442	107807442	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:107807442T>C	uc003vfb.2	-	30	3861	c.3390A>G	c.(3388-3390)ACA>ACG	p.T1130T	NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Intron|NRCAM_uc003vfd.2_Intron|NRCAM_uc003vfe.2_Intron|NRCAM_uc011kmj.1_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	1130	Fibronectin type-III 5.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5						CTTTGTATGCTGTTCCTGGCA	0.453												
LRRN3	54674	broad.mit.edu	37	7	110764283	110764283	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:110764283C>T	uc003vft.3	+	4	2501	c.1455C>T	c.(1453-1455)GGC>GGT	p.G485G	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.G485G|LRRN3_uc003vfs.3_Silent_p.G485G	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	485	Extracellular (Potential).|Ig-like C2-type.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATATAAATGGCGTAACTCCCA	0.408												
CTTNBP2	83992	broad.mit.edu	37	7	117417627	117417627	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:117417627T>C	uc003vjf.2	-	8	2808	c.2716A>G	c.(2716-2718)ATT>GTT	p.I906V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	906										ovary(4)|central_nervous_system(1)	5	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCGTGGTTAATGAGGTCTGCA	0.502												
CPA5	93979	broad.mit.edu	37	7	130008355	130008355	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:130008355G>A	uc010lmd.1	+	14	1848	c.1228G>A	c.(1228-1230)GCC>ACC	p.A410T	CPA5_uc003vps.2_Missense_Mutation_p.A410T|CPA5_uc003vpt.2_Silent_p.R381R|CPA5_uc010lme.1_Missense_Mutation_p.A410T|CPA5_uc003vpu.1_Missense_Mutation_p.A410T|uc003vpv.1_RNA	NM_001127441	NP_001120913	Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5 isoform 1	410					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2	Melanoma(18;0.0435)					CCTGCTGCCGGCCACACAGAT	0.612												
PLXNA4	91584	broad.mit.edu	37	7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:131859587G>A	uc003vra.3	-	21	4196	c.3967C>T	c.(3967-3969)CGG>TGG	p.R1323W		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1323	Cytoplasmic (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1						AACAGCACCCGCATGGTGTAA	0.512												
NUP205	23165	broad.mit.edu	37	7	135301989	135301989	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:135301989T>C	uc003vsw.2	+	26	3715	c.3684T>C	c.(3682-3684)AAT>AAC	p.N1228N	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1228					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						CAGTCTGCAATGTCAAGGTGA	0.403												
KIAA1549	57670	broad.mit.edu	37	7	138603265	138603265	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:138603265C>T	uc011kql.1	-	2	1156	c.1107G>A	c.(1105-1107)GCG>GCA	p.A369A	KIAA1549_uc003vuk.3_Silent_p.A319A|KIAA1549_uc011kqj.1_Silent_p.A369A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN	hypothetical protein LOC57670 isoform 1	369						integral to membrane			KIAA1549/BRAF(229)	central_nervous_system(229)|pancreas(1)	230						AAGCAGAGGACGCAAATGCAA	0.512			O	BRAF	pilocytic astrocytoma							
HIPK2	28996	broad.mit.edu	37	7	139416405	139416405	+	Silent	SNP	G	G	A	rs113824554		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:139416405G>A	uc003vvf.3	-	2	603	c.429C>T	c.(427-429)AGC>AGT	p.S143S	HIPK2_uc003vvd.3_Silent_p.S143S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2 isoform	143	Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			ovary(3)|central_nervous_system(3)|skin(1)	7	Melanoma(164;0.205)					TGATCTGCACGCTGCTTGTGT	0.532												
EPHA1	2041	broad.mit.edu	37	7	143096842	143096842	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:143096842C>T	uc003wcz.2	-	4	824	c.737G>A	c.(736-738)CGC>CAC	p.R246H		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	246	Extracellular (Potential).|Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GCAGTGCATGCGGGGTGCACC	0.667												
OR2F1	26211	broad.mit.edu	37	7	143657708	143657708	+	Silent	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:143657708T>G	uc003wds.1	+	1	689	c.645T>G	c.(643-645)CTT>CTG	p.L215L		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3	Melanoma(164;0.0903)					GCCTGGTTCTTTTGTCCTACA	0.498												
OR2A2	442361	broad.mit.edu	37	7	143806951	143806951	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:143806951C>A	uc011ktz.1	+	1	276	c.276C>A	c.(274-276)TCC>TCA	p.S92S		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A,	92	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.0783)					GAACCATCTCCTTTGTTCCAT	0.423												
ARHGEF5	7984	broad.mit.edu	37	7	144070331	144070331	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:144070331C>T	uc003wel.2	+	10	4212	c.4094C>T	c.(4093-4095)ACA>ATA	p.T1365I	ARHGEF5_uc003wek.2_Missense_Mutation_p.T1365I|ARHGEF5_uc003wem.2_Missense_Mutation_p.T220I	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	rho guanine nucleotide exchange factor 5	1365					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			skin(2)	2	Melanoma(164;0.14)					ATGCGACGGACAGAGGAACTA	0.517												
EZH2	2146	broad.mit.edu	37	7	148507436	148507436	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:148507436T>C	uc003wfd.1	-	17	2169	c.2003A>G	c.(2002-2004)AAC>AGC	p.N668S	EZH2_uc011kug.1_Missense_Mutation_p.N617S|EZH2_uc003wfb.1_Missense_Mutation_p.N673S|EZH2_uc003wfc.1_Missense_Mutation_p.N629S|EZH2_uc011kuh.1_Missense_Mutation_p.N659S	NM_004456	NP_004447	Q15910	EZH2_HUMAN	enhancer of zeste 2 isoform a	668	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTGTTCAAGTTGAACAGAAA	0.438			Mis		DLBCL							
ZNF398	57541	broad.mit.edu	37	7	148851131	148851131	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:148851131C>T	uc003wfl.2	+	2	394	c.119C>T	c.(118-120)GCT>GTT	p.A40V	ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.A45V	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	zinc finger 398 isoform a	40					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGACAGCAGCTATCTCTCTG	0.587												
ABP1	26	broad.mit.edu	37	7	150554063	150554063	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:150554063A>G	uc003why.1	+	3	4723	c.505A>G	c.(505-507)ACC>GCC	p.T169A	ABP1_uc003whz.1_Missense_Mutation_p.T169A|ABP1_uc003wia.1_Missense_Mutation_p.T169A	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	169					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTTCCTCAATACCACAGGCTT	0.602												
ABP1	26	broad.mit.edu	37	7	150554734	150554734	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:150554734G>A	uc003why.1	+	3	5394	c.1176G>A	c.(1174-1176)CCG>CCA	p.P392P	ABP1_uc003whz.1_Silent_p.P392P|ABP1_uc003wia.1_Silent_p.P392P	NM_001091	NP_001082	P19801	ABP1_HUMAN	amiloride binding protein 1 precursor	392					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			ovary(2)|breast(2)|skin(2)	6	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TCGACTGCCCGGAGACCGCCA	0.607												
MLL3	58508	broad.mit.edu	37	7	151860524	151860524	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:151860524G>A	uc003wla.2	-	43	10357	c.10138C>T	c.(10138-10140)CCA>TCA	p.P3380S	MLL3_uc003wkz.2_Missense_Mutation_p.P2441S|MLL3_uc003wky.2_Missense_Mutation_p.P889S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3380	Gln-rich.|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)		ACCCGAGGTGGTGGTCCACTC	0.458			N		medulloblastoma							
MLL3	58508	broad.mit.edu	37	7	151962206	151962206	+	Silent	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:151962206A>G	uc003wla.2	-	8	1320	c.1101T>C	c.(1099-1101)CAT>CAC	p.H367H		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	367	PHD-type 1.|RING-type.				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)		GGCACATTCCATGATAGTGCT	0.443			N		medulloblastoma							
CSMD1	64478	broad.mit.edu	37	8	2820754	2820754	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:2820754G>A	uc011kwk.1	-	60	9837	c.9447C>T	c.(9445-9447)CCC>CCT	p.P3149P	CSMD1_uc011kwj.1_Silent_p.P2478P|CSMD1_uc010lrg.2_Silent_p.P1040P	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3149	Sushi 25.|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)		GGAGACACTGGGGGATCTCTC	0.552												
CSMD1	64478	broad.mit.edu	37	8	2830689	2830689	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:2830689C>T	uc011kwk.1	-	57	9266	c.8876G>A	c.(8875-8877)CGC>CAC	p.R2959H	CSMD1_uc011kwj.1_Missense_Mutation_p.R2288H|CSMD1_uc010lrg.2_Missense_Mutation_p.R969H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	2959	Extracellular (Potential).|Sushi 22.					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)		CAAACACGTGCGTTCAGGGGA	0.542												
MCPH1	79648	broad.mit.edu	37	8	6338243	6338243	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:6338243A>G	uc003wqi.2	+	11	2050	c.1982A>G	c.(1981-1983)AAT>AGT	p.N661S		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	661	BRCT 2.					microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGAAAGCAGAATGTCGTCATC	0.423												
XKR6	286046	broad.mit.edu	37	8	10755778	10755778	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:10755778C>T	uc003wtk.1	-	3	1637	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related	537						integral to membrane				ovary(1)|skin(1)	2				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CTGGGTCCCCCGGTACCCAGG	0.617												
GATA4	2626	broad.mit.edu	37	8	11614510	11614510	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:11614510C>G	uc003wuc.2	+	6	1618	c.1064C>G	c.(1063-1065)ACC>AGC	p.T355S	GATA4_uc003wub.1_Missense_Mutation_p.T149S|GATA4_uc011kxc.1_Missense_Mutation_p.T356S	NM_002052	NP_002043	P43694	GATA4_HUMAN	GATA binding protein 4	355					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)		AACGCCACCACCAGCAGCAGC	0.622												
NEIL2	252969	broad.mit.edu	37	8	11637250	11637250	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:11637250G>A	uc003wug.2	+	3	957	c.282G>A	c.(280-282)GGG>GGA	p.G94G	NEIL2_uc003wue.2_Silent_p.G94G|NEIL2_uc003wuf.2_Silent_p.G33G|NEIL2_uc011kxd.1_Intron	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	94					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGCCCAGCGGGCAGAAGACCC	0.612								BER_DNA_glycosylases				
C8orf79	57604	broad.mit.edu	37	8	12878931	12878931	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:12878931G>A	uc010lsq.2	+	5	1235	c.743G>A	c.(742-744)CGT>CAT	p.R248H	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.R161H|C8orf79_uc010lsr.2_Missense_Mutation_p.R122H	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	248							methyltransferase activity				0						AAATCGTTTCGTTCCTGGTTT	0.413												
STC1	6781	broad.mit.edu	37	8	23709885	23709885	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:23709885C>T	uc003xdw.1	-	2	415	c.131G>A	c.(130-132)CGT>CAT	p.R44H		NM_003155	NP_003146	P52823	STC1_HUMAN	stanniocalcin 1 precursor	44					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.R44C(1)		skin(3)|upper_aerodigestive_tract(1)	4		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GTTGAGGCAACGAACCACTTC	0.502												
FZD3	7976	broad.mit.edu	37	8	28413394	28413394	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:28413394C>T	uc003xgx.2	+	7	2171	c.1693C>T	c.(1693-1695)CTG>TTG	p.L565L	FZD3_uc010lvb.2_Silent_p.L565L	NM_017412	NP_059108	Q9NPG1	FZD3_HUMAN	frizzled 3 precursor	565	Cytoplasmic (Potential).				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTCAACTCAGCTGGCTATGGT	0.493												
C8orf41	80185	broad.mit.edu	37	8	33367337	33367337	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:33367337A>G	uc003xjl.3	-	2	1286	c.761T>C	c.(760-762)GTC>GCC	p.V254A	C8orf41_uc003xjk.3_Missense_Mutation_p.V254A|C8orf41_uc010lvv.2_Missense_Mutation_p.V254A|C8orf41_uc003xjm.3_Missense_Mutation_p.V254A|C8orf41_uc003xjn.1_Missense_Mutation_p.V254A	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	254							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		ATCTGAAATGACCAATGATGC	0.473												
WHSC1L1	54904	broad.mit.edu	37	8	38139077	38139077	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:38139077C>T	uc003xli.2	-	20	4044	c.3526G>A	c.(3526-3528)GGT>AGT	p.G1176S	WHSC1L1_uc011lbm.1_Missense_Mutation_p.G1176S|WHSC1L1_uc010lwe.2_Missense_Mutation_p.G1127S|WHSC1L1_uc003xlh.2_5'Flank	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	1176	SET.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ATTAATTCACCGACGTATTCA	0.323			T	NUP98	AML							
ANK1	286	broad.mit.edu	37	8	41525866	41525866	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:41525866G>T	uc003xok.2	-	39	5397	c.5313C>A	c.(5311-5313)TCC>TCA	p.S1771S	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.S925S|ANK1_uc003xoi.2_Silent_p.S1771S|ANK1_uc003xoj.2_Silent_p.S1771S|ANK1_uc003xol.2_Silent_p.S1609S|ANK1_uc003xom.2_Silent_p.S1812S	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1771	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTCGGCCTGGGAGCTCTCAG	0.617												
SGK196	84197	broad.mit.edu	37	8	42958705	42958705	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:42958705C>T	uc003xpw.2	+	4	273	c.14C>T	c.(13-15)CCC>CTC	p.P5L		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	5						integral to membrane	ATP binding|protein kinase activity				0						GAAAAGCAGCCCCAGAACAGC	0.512												
PRKDC	5591	broad.mit.edu	37	8	48706944	48706944	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:48706944G>A	uc003xqi.2	-	75	10634	c.10577C>T	c.(10576-10578)CCG>CTG	p.P3526L	PRKDC_uc003xqj.2_Missense_Mutation_p.P3526L|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3526	FAT.				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)				AATAGCCTGCGGGTAGTTATC	0.458								NHEJ				
ATP6V1H	51606	broad.mit.edu	37	8	54730032	54730032	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:54730032G>A	uc003xrl.2	-	5	517	c.365C>T	c.(364-366)GCG>GTG	p.A122V	ATP6V1H_uc003xrk.2_Missense_Mutation_p.A82V|ATP6V1H_uc003xrm.2_Missense_Mutation_p.A122V|ATP6V1H_uc003xrn.2_Missense_Mutation_p.A122V|ATP6V1H_uc011ldv.1_Missense_Mutation_p.A42V|ATP6V1H_uc010lyd.2_Missense_Mutation_p.A58V	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	122					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GTAGGGCCACGCAGTGTTCTT	0.338												
SOX17	64321	broad.mit.edu	37	8	55372486	55372486	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:55372486C>T	uc003xsb.3	+	2	1380	c.1176C>T	c.(1174-1176)CAC>CAT	p.H392H		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	392	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCGACAGCCACGGGGCCATTT	0.607												
RP1	6101	broad.mit.edu	37	8	55540063	55540063	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:55540063T>C	uc003xsd.1	+	4	3769	c.3621T>C	c.(3619-3621)GAT>GAC	p.D1207D	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1207					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTCCAATAGATCTTTCTGCAA	0.428												
CYP7A1	1581	broad.mit.edu	37	8	59404099	59404099	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:59404099C>T	uc003xtm.3	-	6	1513	c.1450G>A	c.(1450-1452)GCA>ACA	p.A484T		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	484					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCCAAGCCTGCCCGGGACTGG	0.383									Neonatal_Giant_Cell_Hepatitis			
CHD7	55636	broad.mit.edu	37	8	61743037	61743037	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:61743037A>G	uc003xue.2	+	15	4156	c.3679A>G	c.(3679-3681)ACA>GCA	p.T1227A		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1227					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAATTTCACATTTCTTTC	0.393												
ARMC1	55156	broad.mit.edu	37	8	66517566	66517566	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:66517566C>T	uc003xvl.2	-	6	824	c.589G>A	c.(589-591)GCA>ACA	p.A197T	ARMC1_uc011leo.1_Missense_Mutation_p.A95T	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	197					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ATTGCTGATGCCAAAGCCTAA	0.333												
ADHFE1	137872	broad.mit.edu	37	8	67364208	67364208	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:67364208C>A	uc003xwb.3	+	9	789	c.755C>A	c.(754-756)ACC>AAC	p.T252N	ADHFE1_uc003xwd.3_RNA|ADHFE1_uc003xwc.3_Missense_Mutation_p.T204N|ADHFE1_uc003xwe.3_RNA|ADHFE1_uc003xwf.3_RNA|ADHFE1_uc011les.1_Missense_Mutation_p.T182N|ADHFE1_uc011leq.1_RNA|ADHFE1_uc011ler.1_RNA	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	252					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			ovary(1)|lung(1)|breast(1)|skin(1)	4		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GAGTCATACACCACCCTGCCC	0.522												
PREX2	80243	broad.mit.edu	37	8	69104648	69104648	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:69104648T>C	uc003xxv.1	+	37	4519	c.4492T>C	c.(4492-4494)TGT>CGT	p.C1498R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1498					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						CACAGCTGCCTGTGCAAACAC	0.527												
TRAM1	23471	broad.mit.edu	37	8	71495964	71495964	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:71495964T>A	uc003xyo.1	-	9	981	c.811A>T	c.(811-813)ACT>TCT	p.T271S	TRAM1_uc011lfc.1_Missense_Mutation_p.T240S	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	271	Helical; (Potential).|TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAACCAACAGTCAGTACTGAA	0.373												
KCNB2	9312	broad.mit.edu	37	8	73849496	73849496	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:73849496G>A	uc003xzb.2	+	3	2494	c.1906G>A	c.(1906-1908)GAC>AAC	p.D636N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related	636	Cytoplasmic (Potential).				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1)	7	Breast(64;0.137)		Epithelial(68;0.105)			GTTCCCAACCGACCTCCCAGG	0.597												
ZFHX4	79776	broad.mit.edu	37	8	77767139	77767139	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:77767139G>A	uc003yav.2	+	10	8234	c.7847G>A	c.(7846-7848)AGG>AAG	p.R2616K	ZFHX4_uc003yau.1_Missense_Mutation_p.R2661K|ZFHX4_uc003yaw.1_Missense_Mutation_p.R2616K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2616	Homeobox 3.					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)			GCGCGGGAGAGGAAAGGCCAG	0.522										HNSCC(33;0.089)		
CNBD1	168975	broad.mit.edu	37	8	87951921	87951921	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:87951921T>G	uc003ydy.2	+	4	418	c.370T>G	c.(370-372)TTA>GTA	p.L124V		NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	124										ovary(3)	3						TGGCCATATTTTATATAGACC	0.338												
NBN	4683	broad.mit.edu	37	8	90990491	90990491	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:90990491G>T	uc003yej.1	-	5	651	c.541C>A	c.(541-543)CTG>ATG	p.L181M	NBN_uc003yei.1_Missense_Mutation_p.L99M|NBN_uc011lgb.1_Missense_Mutation_p.L181M	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	181	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ACTGCTTTCAGGAATTCAGTA	0.313								Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome			
RUNX1T1	862	broad.mit.edu	37	8	92998448	92998448	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:92998448G>A	uc003yfd.2	-	8	1267	c.1183C>T	c.(1183-1185)CGG>TGG	p.R395W	RUNX1T1_uc003yfc.1_Missense_Mutation_p.R368W|RUNX1T1_uc003yfe.1_Missense_Mutation_p.R358W|RUNX1T1_uc010mao.2_Missense_Mutation_p.R368W|RUNX1T1_uc011lgi.1_Missense_Mutation_p.R406W|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.R358W	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	395			R -> W (in a colorectal cancer sample; somatic mutation).		generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R358W(1)		lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCACTGTACCGCCGGATCCAG	0.512												
TSPYL5	85453	broad.mit.edu	37	8	98289167	98289167	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:98289167C>T	uc003yhy.2	-	1	1010	c.906G>A	c.(904-906)CCG>CCA	p.P302P		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	TSPY-like 5	302					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			large_intestine(1)|ovary(1)	2	Breast(36;2.56e-06)					TTTGGAAATACGGGTTGCGAT	0.488												
KCNS2	3788	broad.mit.edu	37	8	99441361	99441361	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:99441361C>T	uc003yin.2	+	2	1504	c.1154C>T	c.(1153-1155)ACG>ATG	p.T385M		NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel,	385	Extracellular (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCAGGGACCACGGCAGGAAAG	0.597												
VPS13B	157680	broad.mit.edu	37	8	100147902	100147902	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:100147902C>T	uc003yiv.2	+	11	1615	c.1504C>T	c.(1504-1506)CGA>TGA	p.R502*	VPS13B_uc003yiw.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yit.2_Nonsense_Mutation_p.R502*|VPS13B_uc003yiu.1_Nonsense_Mutation_p.R502*|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	502					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)			GTTTGATTACCGAAGCCCAGA	0.338												
RGS22	26166	broad.mit.edu	37	8	101065081	101065081	+	Silent	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:101065081G>T	uc003yjb.1	-	10	1833	c.1638C>A	c.(1636-1638)ACC>ACA	p.T546T	RGS22_uc003yja.1_Silent_p.T365T|RGS22_uc003yjc.1_Silent_p.T534T|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	546					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATGGCAAGAGGGTTGCCATTT	0.418												
UBR5	51366	broad.mit.edu	37	8	103293613	103293613	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:103293613A>G	uc003ykr.1	-	41	5864	c.5831T>C	c.(5830-5832)TTG>TCG	p.L1944S	UBR5_uc003yks.1_Missense_Mutation_p.L1944S	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1944					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)			CACATGCTTCAATGAGCAAAC	0.393												
ODF1	4956	broad.mit.edu	37	8	103572812	103572812	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:103572812G>A	uc003ykt.2	+	2	561	c.453G>A	c.(451-453)TCG>TCA	p.S151S		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	151					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TATGTGTGTCGGCTGAGCGGG	0.488												
ZFPM2	23414	broad.mit.edu	37	8	106813750	106813750	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:106813750C>A	uc003ymd.2	+	8	1463	c.1440C>A	c.(1438-1440)GCC>GCA	p.A480A	ZFPM2_uc011lhs.1_Silent_p.A211A	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	480					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAGACTTGCCTCATCTCCAG	0.448												
EIF3E	3646	broad.mit.edu	37	8	109215314	109215314	+	Silent	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:109215314T>C	uc003ymu.2	-	12	1225	c.1197A>G	c.(1195-1197)TCA>TCG	p.S399S	EIF3E_uc003ymt.2_Silent_p.S350S|EIF3E_uc003ymv.2_Silent_p.S306S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	399	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GCTGATAGGGTGAGACTGCAT	0.388												
TRHR	7201	broad.mit.edu	37	8	110100047	110100047	+	Silent	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:110100047T>G	uc003ymz.3	+	1	322	c.306T>G	c.(304-306)ACT>ACG	p.T102T		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	102	Helical; Name=3; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTGCATTACTTACCTCCAGT	0.468												
PKHD1L1	93035	broad.mit.edu	37	8	110476610	110476610	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:110476610A>G	uc003yne.2	+	49	7653	c.7549A>G	c.(7549-7551)ATT>GTT	p.I2517V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2517	PbH1 1.|Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGAGAGGAATATTATATATGA	0.358										HNSCC(38;0.096)		
CSMD3	114788	broad.mit.edu	37	8	113267597	113267597	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:113267597T>C	uc003ynu.2	-	62	10081	c.9922A>G	c.(9922-9924)ATA>GTA	p.I3308V	CSMD3_uc003yns.2_Missense_Mutation_p.I2510V|CSMD3_uc003ynt.2_Missense_Mutation_p.I3268V|CSMD3_uc011lhx.1_Missense_Mutation_p.I3139V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3308	Extracellular (Potential).|Sushi 26.					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						GACTGGTATATAAAGCTTTTG	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
EXT1	2131	broad.mit.edu	37	8	118819472	118819472	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:118819472C>T	uc003yok.1	-	9	2640	c.1867G>A	c.(1867-1869)GCT>ACT	p.A623T		NM_000127	NP_000118	Q16394	EXT1_HUMAN	exostosin 1	623	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)			TAAATAGCAGCTCCTGTCAAC	0.473			Mis|N|F|S			exostoses|osteosarcoma			Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome			
NOV	4856	broad.mit.edu	37	8	120435303	120435303	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:120435303C>T	uc003yoq.2	+	5	1226	c.1005C>T	c.(1003-1005)ACC>ACT	p.T335T		NM_002514	NP_002505	P48745	NOV_HUMAN	nephroblastoma overexpressed precursor	335	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			ovary(2)|skin(2)|kidney(1)	5	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGTCACACCAACTGTCCTA	0.512												
ZHX1	11244	broad.mit.edu	37	8	124267603	124267603	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:124267603C>T	uc003yqe.2	-	3	1014	c.584G>A	c.(583-585)CGG>CAG	p.R195Q	C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R195Q|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R195Q	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	195					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)			AACTGCAATCCGTTTATTTTC	0.353												
TRIB1	10221	broad.mit.edu	37	8	126448362	126448362	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:126448362C>A	uc003yrx.2	+	3	1350	c.768C>A	c.(766-768)ACC>ACA	p.T256T	TRIB1_uc011lis.1_Silent_p.T90T|TRIB1_uc010mdn.2_Silent_p.T25T	NM_025195	NP_079471	Q96RU8	TRIB1_HUMAN	G-protein-coupled receptor induced protein	256	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			lung(1)	1	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			TCCTCAACACCACTGGGACCT	0.537												
KCNQ3	3786	broad.mit.edu	37	8	133146585	133146585	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:133146585T>G	uc003ytj.2	-	13	1976	c.1751A>C	c.(1750-1752)AAG>ACG	p.K584T	KCNQ3_uc010mdt.2_Missense_Mutation_p.K584T	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	584					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)			TTTCTGAGACTTCTTGTGTTT	0.483												
FAM135B	51059	broad.mit.edu	37	8	139153505	139153505	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:139153505C>T	uc003yuy.2	-	17	3897	c.3726G>A	c.(3724-3726)ACG>ACA	p.T1242T	FAM135B_uc003yux.2_Silent_p.T1143T|FAM135B_uc003yuz.2_RNA	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1242										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GTGACAGGAACGTGTGGAGTT	0.507										HNSCC(54;0.14)		
PTK2	5747	broad.mit.edu	37	8	141803473	141803473	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:141803473C>A	uc003yvu.2	-	13	1334	c.1104G>T	c.(1102-1104)CGG>CGT	p.R368R	PTK2_uc011ljq.1_Silent_p.R29R|PTK2_uc003yvp.2_Silent_p.R29R|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Silent_p.R267R|PTK2_uc003yvs.2_Silent_p.R368R|PTK2_uc003yvt.2_Silent_p.R390R|PTK2_uc003yvv.2_Silent_p.R255R|PTK2_uc011ljr.1_Silent_p.R368R	NM_153831	NP_722560	Q05397	FAK1_HUMAN	PTK2 protein tyrosine kinase 2 isoform a	368					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGGCAAAGCCCGTTCACCTT	0.373												
ZFP41	286128	broad.mit.edu	37	8	144332457	144332457	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:144332457C>T	uc003yxw.2	+	2	802	c.444C>T	c.(442-444)TGC>TGT	p.C148C	ZFP41_uc003yxv.2_RNA	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	zinc finger protein 41 homolog	148	C2H2-type 3.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCGGGGAGTGCGGGAAAGCCT	0.577												
GRINA	2907	broad.mit.edu	37	8	145066937	145066937	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:145066937G>A	uc003zan.1	+	7	1210	c.1044G>A	c.(1042-1044)GCG>GCA	p.A348A	GRINA_uc003zao.1_Silent_p.A348A|GRINA_uc003zap.1_Silent_p.A348A	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl	348	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTTGCTGCGCTGAACCTGT	0.572												
SPATC1	375686	broad.mit.edu	37	8	145095846	145095846	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:145095846C>T	uc011lkw.1	+	3	1246	c.1144C>T	c.(1144-1146)CCT>TCT	p.P382S	SPATC1_uc011lkx.1_Missense_Mutation_p.P382S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	382										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)			CCCCCACTGTCCTCCACACAA	0.612												
CPSF1	29894	broad.mit.edu	37	8	145623823	145623823	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:145623823G>A	uc003zcj.2	-	19	1838	c.1763C>T	c.(1762-1764)ACG>ATG	p.T588M		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1,	588					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			skin(1)	1	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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCTGCCCCGTCTGCAGGAT	0.672												
FOXD4	2298	broad.mit.edu	37	9	117535	117535	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:117535C>T	uc003zfz.2	-	1	883	c.585G>A	c.(583-585)CGG>CGA	p.R195R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	195	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCTTCCTACGCCGGAGAAAGC	0.687												
GLDC	2731	broad.mit.edu	37	9	6604759	6604759	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:6604759A>C	uc003zkc.2	-	7	1080	c.887T>G	c.(886-888)CTT>CGT	p.L296R		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	296					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAAAGCTAAAAGGTCAGTAGC	0.522												
PTPRD	5789	broad.mit.edu	37	9	8319960	8319960	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:8319960G>A	uc003zkk.2	-	44	6252	c.5541C>T	c.(5539-5541)GGC>GGT	p.G1847G	PTPRD_uc003zkp.2_Silent_p.G1441G|PTPRD_uc003zkq.2_Silent_p.G1440G|PTPRD_uc003zkr.2_Silent_p.G1431G|PTPRD_uc003zks.2_Silent_p.G1440G|PTPRD_uc003zkl.2_Silent_p.G1838G|PTPRD_uc003zkm.2_Silent_p.G1834G|PTPRD_uc003zkn.2_Silent_p.G1436G|PTPRD_uc003zko.2_Silent_p.G1437G	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1847	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCTTCCAACGCCCGCGCTGC	0.438										TSP Lung(15;0.13)		
KIAA1797	54914	broad.mit.edu	37	9	20988425	20988425	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:20988425C>T	uc003zog.1	+	43	5364	c.5001C>T	c.(4999-5001)GAC>GAT	p.D1667D	KIAA1797_uc003zoh.1_Silent_p.D1103D	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	hypothetical protein LOC54914	1667						integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)		CGGCTCTTGACAAGGTAAAAT	0.284												
TLN1	7094	broad.mit.edu	37	9	35706102	35706102	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:35706102C>T	uc003zxt.2	-	41	5722	c.5368G>A	c.(5368-5370)GCT>ACT	p.A1790T		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	1790	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTGTGAGCTGCTTGCTGT	0.582												
GNE	10020	broad.mit.edu	37	9	36227249	36227249	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:36227249A>G	uc010mlh.2	-	7	1492	c.1277T>C	c.(1276-1278)ATG>ACG	p.M426T	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M426T|GNE_uc011lpl.1_Missense_Mutation_p.M316T|GNE_uc010mli.2_Missense_Mutation_p.M457T|GNE_uc010mlj.2_Missense_Mutation_p.M421T	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	426	UDP-N-acetylglucosamine 2-epimerase.|N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			TTTTACCTTCATGCTGACTAT	0.368												
MAMDC2	256691	broad.mit.edu	37	9	72833435	72833435	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:72833435T>G	uc004ahm.2	+	12	2451	c.1834T>G	c.(1834-1836)TTA>GTA	p.L612V	MAMDC2_uc004ahn.2_RNA|uc004ahq.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	612	MAM 4.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2						AGAGTCCCTCTTATGGAGGAG	0.468												
ALDH1A1	216	broad.mit.edu	37	9	75545795	75545795	+	Silent	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:75545795C>A	uc004ajd.2	-	3	365	c.312G>T	c.(310-312)GCG>GCT	p.A104A	ALDH1A1_uc011lsh.1_Silent_p.A25A	NM_000689	NP_000680	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1A1	104					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			ovary(3)|lung(1)	4					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAATACTCACCGCCAGCAGCA	0.458												
PRUNE2	158471	broad.mit.edu	37	9	79323912	79323912	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:79323912C>T	uc010mpk.2	-	8	3402	c.3278G>A	c.(3277-3279)CGA>CAA	p.R1093Q		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1093					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TGTGAGTTGTCGGTTTGTTTC	0.512												
VPS13A	23230	broad.mit.edu	37	9	79841516	79841516	+	Splice_Site	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:79841516T>C	uc004akr.2	+	15	1617	c.1357_splice	c.e15+2	p.T453_splice	VPS13A_uc004akp.3_Splice_Site_p.T453_splice|VPS13A_uc004akq.3_Splice_Site_p.T453_splice|VPS13A_uc004aks.2_Splice_Site_p.T453_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						AACCTGAAAGTATGTCCATTT	0.328												
FLJ46321	389763	broad.mit.edu	37	9	84607460	84607460	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:84607460G>A	uc004amn.2	+	4	2122	c.2075G>A	c.(2074-2076)CGA>CAA	p.R692Q		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	692						integral to membrane					0						CAACACATTCGAAGGAGGCTC	0.493												
RASEF	158158	broad.mit.edu	37	9	85607893	85607893	+	Silent	SNP	A	A	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:85607893A>T	uc004amo.1	-	15	2229	c.1968T>A	c.(1966-1968)GCT>GCA	p.A656A		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	656	GTP (By similarity).				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						CACGAATGTCAGCCTTGTTTC	0.473												
RMI1	80010	broad.mit.edu	37	9	86616999	86616999	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:86616999C>G	uc004anq.3	+	3	1506	c.1098C>G	c.(1096-1098)TGC>TGG	p.C366W	RMI1_uc004anr.3_Missense_Mutation_p.C366W|RMI1_uc004anp.3_Missense_Mutation_p.C366W|RMI1_uc004ans.3_Missense_Mutation_p.C366W	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	RMI1, RecQ mediated genome instability 1,	366					DNA replication	nucleus					0						CTTTGACTTGCAAAAATGGAA	0.323												
SEMA4D	10507	broad.mit.edu	37	9	92020286	92020286	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:92020286C>T	uc004aqo.1	-	5	658	c.86G>A	c.(85-87)CGG>CAG	p.R29Q	SEMA4D_uc011ltm.1_Missense_Mutation_p.R29Q|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Missense_Mutation_p.R27Q	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	29	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2						CCAGGTGATCCGGGGTATGGG	0.617												
FBP2	8789	broad.mit.edu	37	9	97321299	97321299	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:97321299C>T	uc004auv.2	-	7	1008	c.941G>A	c.(940-942)CGA>CAA	p.R314Q	uc004aus.1_RNA|uc004aut.1_RNA|uc004auu.2_RNA	NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	314					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				GAGGGGGACTCGCTGGTGAAT	0.582												
FBP2	8789	broad.mit.edu	37	9	97355861	97355861	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:97355861G>A	uc004auv.2	-	1	215	c.148C>T	c.(148-150)CGC>TGC	p.R50C		NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	50					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				CCGGCCTTGCGCACAGCCGAG	0.642												
CTSL2	1515	broad.mit.edu	37	9	99800233	99800233	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:99800233C>T	uc004awt.2	-	2	290	c.93G>A	c.(91-93)CAG>CAA	p.Q31Q	CTSL2_uc010msi.2_Silent_p.Q31Q|CTSL2_uc004awu.2_Translation_Start_Site|CTSL2_uc010msj.1_Translation_Start_Site|CTSL2_uc010msk.2_Translation_Start_Site	NM_001333	NP_001324	O60911	CATL2_HUMAN	cathepsin L2 preproprotein	31						lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(62;0.0559)				TTGCCTTCCACTGGTACCACT	0.463												
ALDOB	229	broad.mit.edu	37	9	104187169	104187169	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:104187169C>T	uc004bbk.2	-	8	1037	c.955G>A	c.(955-957)GCA>ACA	p.A319T		NM_000035	NP_000026	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	319					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCCTTGTTTGCAGCCTTGCCA	0.527												
EPB41L4B	54566	broad.mit.edu	37	9	112017804	112017804	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:112017804G>A	uc004bdz.1	-	11	1451	c.1156C>T	c.(1156-1158)CGC>TGC	p.R386C	EPB41L4B_uc004bea.2_Missense_Mutation_p.R386C	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	386						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						AATCTGAAGCGAGAGCCCAGC	0.453												
PTPN3	5774	broad.mit.edu	37	9	112144688	112144688	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:112144688C>T	uc004bed.2	-	24	2534	c.2422G>A	c.(2422-2424)GCA>ACA	p.A808T	PTPN3_uc004beb.2_Missense_Mutation_p.A677T|PTPN3_uc004bec.2_Missense_Mutation_p.A632T|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.A763T|PTPN3_uc011lwh.1_Missense_Mutation_p.A654T|PTPN3_uc011lwd.1_Missense_Mutation_p.A276T|PTPN3_uc011lwe.1_Missense_Mutation_p.A521T|PTPN3_uc011lwf.1_Missense_Mutation_p.A476T	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	808	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3						TCAGGCCATGCGACGTACTGG	0.572												
DNAJC25	548645	broad.mit.edu	37	9	114415422	114415422	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:114415422G>A	uc004bfl.2	+	4	1059	c.1003G>A	c.(1003-1005)GCA>ACA	p.A335T	DNAJC25-GNG10_uc004bfn.2_Intron|DNAJC25_uc004bfm.2_Missense_Mutation_p.A213T	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	335					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding				0						GAAAAAGTTGGCAAATGACCC	0.398												
HSDL2	84263	broad.mit.edu	37	9	115166406	115166406	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:115166406T>G	uc004bga.1	+	2	242	c.149T>G	c.(148-150)CTT>CGT	p.L50R	HSDL2_uc011lwv.1_Intron|HSDL2_uc004bgb.1_5'UTR|HSDL2_uc004bgc.1_Missense_Mutation_p.L50R|HSDL2_uc011lww.1_5'UTR	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	50						peroxisome	oxidoreductase activity|sterol binding				0						CATCCAAAACTTCTAGGCACA	0.428												
CDK5RAP2	55755	broad.mit.edu	37	9	123334315	123334315	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:123334315G>T	uc004bkf.2	-	2	245	c.64C>A	c.(64-66)CTT>ATT	p.L22I	CDK5RAP2_uc004bkg.2_Missense_Mutation_p.L22I|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.L22I	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	22					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			ovary(2)|lung(1)|skin(1)	4						CTGGGAACAAGGCCACTAGGA	0.468												
OR1Q1	158131	broad.mit.edu	37	9	125377600	125377600	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:125377600A>G	uc011lyy.1	+	1	584	c.584A>G	c.(583-585)AAC>AGC	p.N195S		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	195	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						ACCTACCTCAACACCCTTATG	0.502												
OR1K1	392392	broad.mit.edu	37	9	125563309	125563309	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:125563309G>A	uc011lze.1	+	1	908	c.908G>A	c.(907-909)CGA>CAA	p.R303Q		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	303	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GGGGCACTCCGAGCCCTTCTC	0.582												
CRB2	286204	broad.mit.edu	37	9	126132851	126132851	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:126132851C>A	uc004bnx.1	+	7	1611	c.1519C>A	c.(1519-1521)CTG>ATG	p.L507M	CRB2_uc004bnw.1_Missense_Mutation_p.L507M	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	507	Extracellular (Potential).|Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1						TGTGCTTGTCCTGAGACTGCC	0.597												
NEK6	10783	broad.mit.edu	37	9	127089654	127089654	+	Silent	SNP	C	C	T	rs147517890		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:127089654C>T	uc004bog.2	+	7	701	c.552C>T	c.(550-552)GGC>GGT	p.G184G	NEK6_uc004bof.2_Silent_p.G202G|NEK6_uc004boh.2_Silent_p.G218G|NEK6_uc010mwj.2_Silent_p.G137G|NEK6_uc010mwk.2_Silent_p.G184G|NEK6_uc004boi.2_Silent_p.G184G	NM_014397	NP_055212	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6 isoform 2	184	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			ovary(2)|kidney(1)	3						CAGCCACGGGCGTCGTGAAGC	0.632												
GOLGA1	2800	broad.mit.edu	37	9	127650643	127650643	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:127650643G>A	uc004bpc.2	-	19	2136	c.1794C>T	c.(1792-1794)TTC>TTT	p.F598F	GOLGA1_uc010mws.2_RNA	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	golgin 97	598	Potential.					Golgi cisterna membrane				ovary(1)	1						TTGGAAGCTGGAACACAGGGT	0.552												
ZBTB43	23099	broad.mit.edu	37	9	129595614	129595614	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:129595614G>A	uc004bql.2	+	3	1099	c.826G>A	c.(826-828)GTG>ATG	p.V276M	ZBTB43_uc010mxf.2_Missense_Mutation_p.V276M	NM_014007	NP_054726	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						CATCAACACCGTGCAGACAGA	0.572												
SPTAN1	6709	broad.mit.edu	37	9	131395517	131395517	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:131395517C>T	uc004bvl.3	+	56	7436	c.7323C>T	c.(7321-7323)TGC>TGT	p.C2441C	SPTAN1_uc004bvm.3_Silent_p.C2446C|SPTAN1_uc004bvn.3_Silent_p.C2421C|SPTAN1_uc004bvo.3_Silent_p.C208C|SPTAN1_uc004bvp.3_Silent_p.C184C	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2441					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						CCGACTACTGCGTCTCCCACA	0.622												
LRRC8A	56262	broad.mit.edu	37	9	131670897	131670897	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:131670897C>T	uc004bwl.3	+	3	1708	c.1454C>T	c.(1453-1455)GCG>GTG	p.A485V	LRRC8A_uc010myp.2_Missense_Mutation_p.A485V|LRRC8A_uc010myq.2_Missense_Mutation_p.A485V	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	485	LRR 5.				pre-B cell differentiation	integral to membrane					0						AAGATTGAAGCGCCCGCGCTG	0.612												
BAT2L1	84726	broad.mit.edu	37	9	134340174	134340174	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:134340174C>T	uc004can.3	+	11	1484	c.1429C>T	c.(1429-1431)CGG>TGG	p.R477W	BAT2L1_uc010mzj.1_Missense_Mutation_p.R60W	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	HLA-B associated transcript 2-like	477							protein binding				0						CAGCATGTTCCGGCAACAGTC	0.582												
SETX	23064	broad.mit.edu	37	9	135139706	135139706	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:135139706G>T	uc004cbk.2	-	26	8137	c.7954C>A	c.(7954-7956)CAC>AAC	p.H2652N	SETX_uc004cbj.2_Missense_Mutation_p.H2300N|SETX_uc010mzt.2_Missense_Mutation_p.H2238N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	2652					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTCCTGGTGTGATGGGTCTCG	0.537												
GTF3C4	9329	broad.mit.edu	37	9	135555180	135555180	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:135555180G>T	uc010mzv.2	+	2	2432	c.2174G>T	c.(2173-2175)AGA>ATA	p.R725I	GTF3C4_uc010mzw.2_RNA	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC 4	725					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			ovary(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TATGATGACAGAACTGCACGG	0.408												
CAMSAP1	157922	broad.mit.edu	37	9	138714112	138714112	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:138714112C>T	uc004cgr.3	-	11	2395	c.2395G>A	c.(2395-2397)GCC>ACC	p.A799T	CAMSAP1_uc004cgq.3_Missense_Mutation_p.A689T|CAMSAP1_uc010nbg.2_Missense_Mutation_p.A521T	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	799						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATCTGAGAGGCTGTGCTCAGG	0.577												
EDF1	8721	broad.mit.edu	37	9	139757844	139757844	+	Missense_Mutation	SNP	G	G	A	rs139723037		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:139757844G>A	uc004cjt.1	-	3	215	c.187C>T	c.(187-189)CGG>TGG	p.R63W	EDF1_uc004cju.1_Missense_Mutation_p.R63W	NM_003792	NP_003783	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	63	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|protein binding|sequence-specific DNA binding|transcription coactivator activity				0	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTGTCTCCCGGTCCAGCTTG	0.572												
CSF2RA	1438	broad.mit.edu	37	X	1401634	1401634	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:1401634T>C	uc010nct.2	+	4	360	c.38T>C	c.(37-39)TTA>TCA	p.L13S	CSF2RA_uc011mhb.1_Missense_Mutation_p.L13S|CSF2RA_uc004cpq.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpn.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpo.2_Missense_Mutation_p.L13S|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Missense_Mutation_p.L13S|CSF2RA_uc010ncv.2_Missense_Mutation_p.L13S|CSF2RA_uc004cpr.2_Missense_Mutation_p.L13S	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	13						extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTCTGTGAGTTACCACACCCA	0.522												
ZRSR2	8233	broad.mit.edu	37	X	15822297	15822297	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:15822297C>T	uc004cxg.3	+	5	421	c.376C>T	c.(376-378)CGA>TGA	p.R126*		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 2	126					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)	3	Hepatocellular(33;0.183)					ggagcagaaacgacaggagaa	0.209												
USP9X	8239	broad.mit.edu	37	X	41029259	41029259	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:41029259G>C	uc004dfb.2	+	19	3281	c.2648G>C	c.(2647-2649)GGT>GCT	p.G883A	USP9X_uc004dfc.2_Missense_Mutation_p.G883A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	883					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						GCATTCCGCGGTAAACACCTC	0.413												
DUSP21	63904	broad.mit.edu	37	X	44703423	44703423	+	Silent	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:44703423G>A	uc004dgd.2	+	1	175	c.45G>A	c.(43-45)CAG>CAA	p.Q15Q		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	15						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)	2						AGGGTGTCCAGCAGCCCTCCA	0.537												
ARAF	369	broad.mit.edu	37	X	47424708	47424708	+	Silent	SNP	G	G	A	rs56202823		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:47424708G>A	uc011mlq.1	+	6	649	c.516G>A	c.(514-516)TCG>TCA	p.S172S	ARAF_uc011mln.1_RNA|ARAF_uc011mlo.1_Silent_p.S38S|ARAF_uc011mlp.1_Silent_p.S172S|ARAF_uc004dic.1_5'UTR	NM_001654	NP_001645	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene	172					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			large_intestine(3)|lung(2)|ovary(1)|skin(1)	7					Adenosine triphosphate(DB00171)	AGGCTCCCTCGAACCGCCCCC	0.572												
PPP1R3F	89801	broad.mit.edu	37	X	49143388	49143388	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:49143388G>A	uc004dnh.1	+	4	2252	c.2236G>A	c.(2236-2238)GCA>ACA	p.A746T	PPP1R3F_uc011mnd.1_Missense_Mutation_p.A417T|PPP1R3F_uc004dni.2_Missense_Mutation_p.A400T|PPP1R3F_uc004dnj.1_Missense_Mutation_p.A400T	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory (inhibitor)	746	Extracellular (Potential).					integral to membrane				ovary(2)|skin(1)	3	Ovarian(276;0.236)					TCCCACCCTAGCAGTCCCTGC	0.612												
ZDHHC15	158866	broad.mit.edu	37	X	74651314	74651314	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:74651314G>A	uc004ecg.2	-	5	899	c.421C>T	c.(421-423)CGC>TGC	p.R141C	ZDHHC15_uc004ech.2_Missense_Mutation_p.R132C|ZDHHC15_uc011mqo.1_RNA	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15 isoform 1	141	DHHC-type.					integral to membrane	zinc ion binding			ovary(2)	2						TGGTGGCAGCGGTCTGGCTTG	0.453												
HDX	139324	broad.mit.edu	37	X	83616610	83616610	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:83616610C>T	uc004eek.1	-	5	1425	c.1316G>A	c.(1315-1317)CGC>CAC	p.R439H	HDX_uc011mqv.1_Missense_Mutation_p.R439H|HDX_uc004eel.1_Missense_Mutation_p.R381H	NM_144657	NP_653258	Q7Z353	HDX_HUMAN	highly divergent homeobox	439	Homeobox 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)|ovary(1)	2						GAACTGAGTGCGGTCCTGTAG	0.378												
KLHL4	56062	broad.mit.edu	37	X	86919768	86919768	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:86919768G>T	uc004efb.2	+	10	2112	c.1930G>T	c.(1930-1932)GAT>TAT	p.D644Y	KLHL4_uc004efa.2_Missense_Mutation_p.D644Y	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN	kelch-like 4 isoform 1	644	Kelch 5.					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						TTTAAGGTATGATCCAAAAGG	0.403												
PCDH11X	27328	broad.mit.edu	37	X	91132491	91132491	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:91132491C>A	uc004efk.1	+	2	2097	c.1252C>A	c.(1252-1254)CTG>ATG	p.L418M	PCDH11X_uc004efl.1_Missense_Mutation_p.L418M|PCDH11X_uc004efo.1_Missense_Mutation_p.L418M|PCDH11X_uc010nmv.1_Missense_Mutation_p.L418M|PCDH11X_uc004efm.1_Missense_Mutation_p.L418M|PCDH11X_uc004efn.1_Missense_Mutation_p.L418M|PCDH11X_uc004efh.1_Missense_Mutation_p.L418M|PCDH11X_uc004efj.1_Missense_Mutation_p.L418M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	418	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2						TCAGTTCCTCCTGGAGACTGC	0.438												
ZMAT1	84460	broad.mit.edu	37	X	101139336	101139336	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:101139336T>A	uc004eim.2	-	2	4048	c.550A>T	c.(550-552)AGA>TGA	p.R184*	ZMAT1_uc011mrl.1_Nonsense_Mutation_p.R355*|ZMAT1_uc004ein.2_Nonsense_Mutation_p.R184*|ZMAT1_uc011mrm.1_Nonsense_Mutation_p.R184*	NM_032441	NP_115817	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin type 1 isoform 3	184						nucleus	zinc ion binding			ovary(1)	1						TGTGAAAATCTTTGCTCACAC	0.448												
GPRASP1	9737	broad.mit.edu	37	X	101911911	101911911	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:101911911G>A	uc004ejj.3	+	5	3871	c.3070G>A	c.(3070-3072)GCC>ACC	p.A1024T	GPRASP1_uc004eji.3_Missense_Mutation_p.A1024T|GPRASP1_uc010nod.2_Missense_Mutation_p.A1024T	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	1024	OPRD1-binding.					cytoplasm	protein binding			ovary(1)|lung(1)	2						CGTGTTCAGGGCCATTTGCAG	0.542												
MORC4	79710	broad.mit.edu	37	X	106185215	106185215	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:106185215C>T	uc004emu.3	-	16	2856	c.2613G>A	c.(2611-2613)CAG>CAA	p.Q871Q	MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Silent_p.Q871Q|MORC4_uc004emw.3_Silent_p.Q619Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	zinc finger, CW type with coiled-coil domain 2	871	Potential.						ATP binding|zinc ion binding			ovary(1)	1						CCTGAGCCTTCTGCAGCATTT	0.453												
CHRDL1	91851	broad.mit.edu	37	X	109931837	109931837	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:109931837C>T	uc004eou.3	-	9	1322	c.973G>A	c.(973-975)GGT>AGT	p.G325S	CHRDL1_uc004eov.2_Missense_Mutation_p.E319K|CHRDL1_uc004eow.2_Missense_Mutation_p.G324S|CHRDL1_uc010nps.2_Missense_Mutation_p.G324S|CHRDL1_uc004eot.2_Missense_Mutation_p.G245S|CHRDL1_uc011mss.1_Missense_Mutation_p.G239S	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	318					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						GCTTTTTTACCTGGACACACC	0.428												
CHRDL1	91851	broad.mit.edu	37	X	110005996	110005996	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:110005996C>T	uc004eou.3	-	3	483	c.134G>A	c.(133-135)AGA>AAA	p.R45K	CHRDL1_uc004eov.2_Missense_Mutation_p.R39K|CHRDL1_uc004eow.2_Missense_Mutation_p.R45K|CHRDL1_uc010nps.2_Missense_Mutation_p.R45K|CHRDL1_uc004eot.2_Missense_Mutation_p.R45K|CHRDL1_uc011mss.1_Missense_Mutation_p.R39K|CHRDL1_uc004eox.3_Missense_Mutation_p.R39K	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	39	VWFC 1.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0						CTCACCCACTCTGTACTTCTT	0.423												
HTR2C	3358	broad.mit.edu	37	X	114141456	114141456	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:114141456C>T	uc004epu.1	+	6	1583	c.855C>T	c.(853-855)AAC>AAT	p.N285N	HTR2C_uc010nqc.1_Silent_p.N285N|HTR2C_uc004epv.1_3'UTR	NM_000868	NP_000859	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C	285	Cytoplasmic (By similarity).				cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			ovary(3)	3					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	AAGACCAGAACGCACGCCGAA	0.498												
ZCCHC12	170261	broad.mit.edu	37	X	117960020	117960020	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:117960020C>T	uc004equ.2	+	4	1286	c.813C>T	c.(811-813)GAC>GAT	p.D271D		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						ATACCCTCGACGACTCCGATG	0.582												
OCRL	4952	broad.mit.edu	37	X	128724180	128724180	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:128724180C>A	uc004euq.2	+	24	2804	c.2639C>A	c.(2638-2640)ACT>AAT	p.T880N	OCRL_uc004eur.2_Missense_Mutation_p.T872N|OCRL_uc010nrb.2_RNA	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	880	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4						GCAAGACAGACTCCAAGTGAC	0.483												
RBMX2	51634	broad.mit.edu	37	X	129546425	129546425	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:129546425G>A	uc004evt.2	+	6	636	c.572G>A	c.(571-573)CGC>CAC	p.R191H		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	191	Lys-rich.						nucleotide binding|RNA binding			breast(3)|ovary(1)	4						TCACCCAGACGCAAGACAGTA	0.453												
IGSF1	3547	broad.mit.edu	37	X	130408789	130408789	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:130408789T>C	uc004ewd.2	-	18	3773	c.3535A>G	c.(3535-3537)ATC>GTC	p.I1179V	IGSF1_uc004ewe.3_Missense_Mutation_p.I1173V|IGSF1_uc004ewf.2_Missense_Mutation_p.I1159V	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	1179	Extracellular (Potential).|Ig-like C2-type 12.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5						TGAAGGGTGATGTCCTTCCCT	0.493												
MAGEC1	9947	broad.mit.edu	37	X	140995387	140995387	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:140995387G>T	uc004fbt.2	+	4	2483	c.2197G>T	c.(2197-2199)GGG>TGG	p.G733W	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	733							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCAGGGGGAGGACTT	0.547										HNSCC(15;0.026)		
SLITRK2	84631	broad.mit.edu	37	X	144904763	144904763	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:144904763A>G	uc004fcd.2	+	5	1810	c.820A>G	c.(820-822)AGG>GGG	p.R274G	SLITRK2_uc010nsp.2_Missense_Mutation_p.R274G|SLITRK2_uc010nso.2_Missense_Mutation_p.R274G|SLITRK2_uc011mwq.1_Missense_Mutation_p.R274G|SLITRK2_uc011mwr.1_Missense_Mutation_p.R274G|SLITRK2_uc011mws.1_Missense_Mutation_p.R274G|SLITRK2_uc004fcg.2_Missense_Mutation_p.R274G|SLITRK2_uc011mwt.1_Missense_Mutation_p.R274G	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	274	Extracellular (Potential).					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGTCAGAGGGGCAGCCA	0.557												
GABRA3	2556	broad.mit.edu	37	X	151376568	151376568	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:151376568T>G	uc010ntk.1	-	7	923	c.683A>C	c.(682-684)AAC>ACC	p.N228T		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	228	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACGGATTTGTTCTTTCCGAG	0.438												
NSDHL	50814	broad.mit.edu	37	X	152037483	152037483	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:152037483T>A	uc004fgt.1	+	9	1206	c.945T>A	c.(943-945)AGT>AGA	p.S315R	NSDHL_uc004fgs.1_Missense_Mutation_p.S315R	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	315	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity				0	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TGGTGATCAGTCCTGTCATCC	0.587												
DNASE1L1	1774	broad.mit.edu	37	X	153631964	153631964	+	Splice_Site	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:153631964C>T	uc004fks.1	-	5	503	c.312_splice	c.e5-1	p.R104_splice	RPL10_uc004fkq.1_RNA|RPL10_uc004fkr.1_3'UTR|DNASE1L1_uc004fkt.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fku.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fkv.1_Splice_Site_p.R104_splice|DNASE1L1_uc004fkw.1_Splice_Site_p.R104_splice	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor						DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTTGTGTGACCTGGGAGGACA	0.567												
IL9R	3581	broad.mit.edu	37	X	155232611	155232611	+	Silent	SNP	C	C	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:155232611C>T	uc004fnv.1	+	2	248	c.69C>T	c.(67-69)GGC>GGT	p.G23G	IL9R_uc010nvn.2_Silent_p.G2G|IL9R_uc004fnu.1_Silent_p.G70G	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	23					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				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)					GAGACATGGGCACCTGGCTCC	0.612												
NLGN4Y	22829	broad.mit.edu	37	Y	16953056	16953056	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrY:16953056A>G	uc004ftg.2	+	6	2617	c.2365A>G	c.(2365-2367)ATG>GTG	p.M789V	NLGN4Y_uc004fte.2_Missense_Mutation_p.M621V|NLGN4Y_uc011nas.1_Missense_Mutation_p.M809V|NLGN4Y_uc004ftf.2_Missense_Mutation_p.M482V|NLGN4Y_uc004fth.2_Missense_Mutation_p.M789V	NM_014893	NP_055708	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked isoform 1	789	Cytoplasmic (Potential).				brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity				0						ATTGATGGGGATGCAGCCTTT	0.483												
TMEM143	55260	broad.mit.edu	37	19	48835272	48835272	+	RNA	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:48835272delA	uc002piw.1	-	6		c.2395delT						Q96AN5	TM143_HUMAN	Homo sapiens cDNA FLJ10922 fis, clone OVARC1000420.							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)		tctcaagaacaaaaaaaaaTC	0.229												
CCNL2	81669	broad.mit.edu	37	1	1325840	1325840	+	Splice_Site	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:1325839_1325839CT>C	uc001afi.2	-	7	896	c.864_splice	c.e7+1	p.K288_splice	CCNL2_uc010nym.1_Splice_Site|CCNL2_uc001aff.1_Splice_Site_p.K66_splice|CCNL2_uc001afg.1_Splice_Site_p.K66_splice|CCNL2_uc001afj.2_Splice_Site_p.K66_splice	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	288					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433												
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408												
AKNAD1	254268	broad.mit.edu	37	1	109369927	109369927	+	Splice_Site	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:109369926_109369926TA>T	uc001dwa.3	-	11	2108	c.1839_splice	c.e11-1	p.W613_splice	AKNAD1_uc010ovb.2_Splice_Site_p.W320_splice|AKNAD1_uc001dwb.3_Splice_Site	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTGCTTCCTAAAAAAAGGT	0.378												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	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												
SLC17A1	6568	broad.mit.edu	37	6	25830753	25830754	+	Splice_Site	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:25830752_25830753C>CT	uc003nfh.4	-	2	150	c.34_splice	c.e2+1	p.V12_splice	SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.V12_splice|SLC17A1_uc010jqc.1_Splice_Site_p.V10_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	12					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.K11K(1)|p.V12L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGTGCTACCTTTTTTGGGAG	0.401												
MYOF	26509	broad.mit.edu	37	10	95113648	95113648	+	Splice_Site	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343												
MCRS1	10445	broad.mit.edu	37	12	49959312	49959314	+	Splice_Site	DEL	CTT	CTT	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49959311_49959313CCTT>C	uc001rui.1	-	3	327	c.327_splice	c.e3+1	p.K109_splice	MCRS1_uc001ruj.2_Splice_Site_p.K83_splice|MCRS1_uc001ruk.1_Splice_Site_p.K96_splice|MCRS1_uc009zlj.1_Splice_Site	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	96					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAATTCCTCACCTTCTTCTTCTC	0.581												
ERN2	10595	broad.mit.edu	37	16	23702513	23702524	+	Splice_Site	DEL	CAGATCTGTGGA	CAGATCTGTGGA	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:23702512_23702523TCAGATCTGTGGA>T	uc002dma.4	-	21	2814	c.2645_splice	c.e21-1	p.D882_splice	ERN2_uc010bxp.3_Splice_Site_p.D830_splice	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	834	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGGAACTTTCTCAGATCTGTGGACAGGGAATT	0.608												
NDRG3	57446	broad.mit.edu	37	20	35284817	35284817	+	Splice_Site	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:35284816_35284816TG>T	uc002xfw.3	-	15	1037	c.895_splice	c.e15-1	p.P299_splice	NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	299					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTCCCAGGCTGGGGGGATAA	0.423												
ZC3H4	23211	broad.mit.edu	37	19	47570462	47570462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:47570462delG	uc002pga.3	-	15	3101	c.3063delC	c.(3061-3063)CCCfs	p.P1021fs	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1021							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGGGCGTTGGGGGGCCCTG	0.701												
GCM2	9247	broad.mit.edu	37	6	10876680	10876681	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:10876680_10876681insA	uc003mzn.3	-	3	525_526	c.453_454insT	c.(451-456)TTTCAGfs	p.F151fs	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	151_152	GCM.				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)				TGACCTACCTGAAAAAAGATCG	0.500												
CCNL2	81669	broad.mit.edu	37	1	1325840	1325840	+	Splice_Site	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:1325839_1325839CT>C	uc001afi.2	-	7	896	c.864_splice	c.e7+1	p.K288_splice	CCNL2_uc010nym.1_Splice_Site|CCNL2_uc001aff.1_Splice_Site_p.K66_splice|CCNL2_uc001afg.1_Splice_Site_p.K66_splice|CCNL2_uc001afj.2_Splice_Site_p.K66_splice	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	Homo sapiens cyclin L2 (CCNL2), transcript variant 1, mRNA.	288					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433												
TNFRSF9	3604	broad.mit.edu	37	1	7998254	7998254	+	Splice_Site	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:7998253_7998253CT>C	uc001aot.3	-	5	607	c.346_splice	c.e5+1	p.G116_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	116					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G116S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GCAAACGTACCTTTTTTTGTC	0.408												
UBR4	23352	broad.mit.edu	37	1	19433102	19433103	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:19433101_19433102A>AG	uc001bbi.3	-	82	12358_12359	c.12354_12355T>CT	c.(12352-12357)cccttgfs	p.P4118fs	UBR4_uc001bbg.3_5'Flank|UBR4_uc001bbh.3_5'Flank	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4118					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)		TTGAGATCCAAGGGGGAGGTCC	0.554												
ARID1A	8289	broad.mit.edu	37	1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:27100175_27100175AC>A	uc001bmv.1	+	15	4344	c.3971_3971AC>A	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324fs*1(2)|p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTAGCCGCTACCCCCCgcag	0.602			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
ARID1A	8289	broad.mit.edu	37	1	27105931	27105931	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:27105930_27105930TG>T	uc001bmv.1	+	19	5914	c.5541_5541TG>T	c.(5539-5541)ggtfs	p.G1847fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G89fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1848fs*6(3)|p.G1847fs*36(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACA	0.582			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
MAP7D1	55700	broad.mit.edu	37	1	36636764	36636765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:36636763_36636764G>GC	uc001bzz.3	+	1	454_455	c.238_239G>GC	c.(238-240)gccfs	p.A80fs	MAP7D1_uc001caa.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cab.3_Frame_Shift_Ins_p.A80fs|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	80	Pro-rich.					cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				GCCTAGGCCAGCCCCCCCGCAG	0.653												
PIK3R3	8503	broad.mit.edu	37	1	46521525	46521525	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:46521524_46521524AT>A	uc010olw.2	-	6	1039	c.1022_1022AT>T	c.(1021-1023)atgfs	p.M341fs	PIK3R3_uc001cpb.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc009vyb.3_Intron|PIK3R3_uc009vyc.3_Frame_Shift_Del_p.M312fs|PIK3R3_uc001cpc.4_Frame_Shift_Del_p.M295fs|PIK3R3_uc010olv.2_Frame_Shift_Del_p.M85fs	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	295					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding	p.M295T(2)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGCTATTCATTTTTTTATC	0.428												
FAAH	2166	broad.mit.edu	37	1	46871336	46871336	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:46871335_46871335AG>A	uc001cpu.2	+	4	736	c.654_654AG>A	c.(652-654)tcafs	p.S218fs	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	218					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity	p.S218S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGGGCTCCTCAGGGGGTGAAG	0.622												
WLS	79971	broad.mit.edu	37	1	68603558	68603558	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:68603557_68603557GA>G	uc001dee.3	-	10	1718	c.1416_1416TC>C	c.(1414-1416)ttcfs	p.F472fs	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Frame_Shift_Del_p.F474fs|WLS_uc001deg.2_Frame_Shift_Del_p.F383fs|WLS_uc009wbf.1_Frame_Shift_Del_p.F429fs	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	474					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of canonical Wnt receptor signaling pathway	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						AGATGCCTGTGAAAAAGGCAC	0.458												
HIAT1	64645	broad.mit.edu	37	1	100534034	100534034	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:100534033_100534033TA>T	uc001dst.3	+	6	710	c.710_710TA>T	c.(709-711)ttafs	p.L237fs		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	237					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCTAGTCCTTAAAAAAAGTC	0.388												
NTNG1	22854	broad.mit.edu	37	1	107937876	107937878	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:107937875_107937877CAAG>C	uc001dvh.4	+	3	1705_1707	c.987_989CAAG>C	c.(985-990)tgcaag>tgCg	p.K331del	NTNG1_uc001dvc.4_In_Frame_Del_p.K331del|NTNG1_uc010out.2_In_Frame_Del_p.K331del|NTNG1_uc001dvf.4_In_Frame_Del_p.K331del|NTNG1_uc001dvi.3_5'UTR|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Non-coding_Transcript|NTNG1_uc001dvg.3_Non-coding_Transcript|NTNG1_uc009wem.3_In_Frame_Del_p.Q2del|NTNG1_uc001dvd.1_In_Frame_Del_p.K331del	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	331	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GTGGGAAATGCAAGAAGAATTAT	0.473												
ADCY10	55811	broad.mit.edu	37	1	167778958	167778959	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:167778957_167778958G>GT	uc001ger.3	-	32	5088_5089	c.4790_4791C>AC	c.(4789-4791)aacfs	p.N1597fs	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Frame_Shift_Ins_p.N1444fs|ADCY10_uc009wvk.3_Frame_Shift_Ins_p.N1505fs	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1597					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCAGGAATTTGTTTTTTTGAAG	0.351												
C1orf114	57821	broad.mit.edu	37	1	169388360	169388360	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:169388359_169388359CT>C	uc001gga.1	-	3	1275	c.1107_1107AG>G	c.(1105-1107)aagfs	p.K369fs	C1orf114_uc001gfz.1_Frame_Shift_Del_p.K369fs|C1orf114_uc009wvq.1_Frame_Shift_Del_p.K369fs|C1orf114_uc001ggb.3_Frame_Shift_Del_p.K369fs	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	369										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					CATTCTCTCTCTTTTTTTCTT	0.328												
NCF2	4688	broad.mit.edu	37	1	183559359	183559359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:183559358_183559358TG>T	uc001gqj.4	-	0	382	c.107_107CA>A	c.(106-108)cacfs	p.H36fs	NCF2_uc010pod.2_Frame_Shift_Del_p.H36fs|NCF2_uc010poe.2_Frame_Shift_Del_p.H36fs|NCF2_uc001gqk.4_Frame_Shift_Del_p.H36fs	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	36					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						AATCCGGGAGTGGGGGTCCTG	0.577												
ZBTB41	360023	broad.mit.edu	37	1	197144238	197144238	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr1:197144237_197144237CT>C	uc001gtx.1	-	7	1957	c.1888_1888AG>G	c.(1888-1890)gctfs	p.A630fs	ZBTB41_uc009wyz.1_Non-coding_Transcript	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CACTGATGAGCTTTTTCACCT	0.348												
GGCX	2677	broad.mit.edu	37	2	85780609	85780611	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:85780608_85780610TAGG>T	uc002sps.3	-	7	1006_1008	c.900_902CCTA>A	c.(898-903)tcctac>tcAc	p.Y301del	GGCX_uc010yss.2_In_Frame_Del_p.Y140del|GGCX_uc010yst.2_In_Frame_Del_p.Y244del	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	301					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CAGCATGACGTAGGAGAACATAC	0.552												
ANKRD23	200539	broad.mit.edu	37	2	97507821	97507822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:97507820_97507821T>TG	uc002sxa.3	-	2	305_306	c.276_277A>CA	c.(274-279)cccaggfs	p.P92fs	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Frame_Shift_Ins_p.P92fs	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	92						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TCAGGTTTCCTGGGGGGGACTC	0.530												
TMEM131	23505	broad.mit.edu	37	2	98475776	98475777	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:98475775_98475776G>GA	uc002syh.4	-	4	703_704	c.474_475C>TC	c.(472-477)tttcaafs	p.F158fs	TMEM131_uc010yvg.1_Non-coding_Transcript	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	158						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCCTATTTTGAAAAAATGATG	0.297												
MKI67IP	84365	broad.mit.edu	37	2	122494356	122494356	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:122494355_122494355CT>C	uc002tnk.3	-	0	149	c.72_72AG>G	c.(70-72)aagfs	p.K24fs	MKI67IP_uc010fls.3_Frame_Shift_Del_p.K24fs	NM_032390	NP_115766	Q9BYG3	MK67I_HUMAN	Homo sapiens MKI67 (FHA domain) interacting nucleolar phosphoprotein (MKI67IP), mRNA.	24					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						GCGCCACCTCCTTTTGAAACT	0.627												
LRP2	4036	broad.mit.edu	37	2	170127462	170127462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:170127461_170127461GA>G	uc002ues.3	-	15	2486	c.2273_2273TC>C	c.(2272-2274)tcafs	p.S758fs	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	758					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGACATATCTGAAAAAAAGAT	0.418												
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:204150379_204150379CA>C	uc010zif.2	+	8	1541	c.919_919CA>C	c.(919-921)caafs	p.Q307fs	CYP20A1_uc002uzv.4_Frame_Shift_Del_p.Q299fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.Q29fs	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TGAAGAAGTTCAAAAAAAATT	0.348												
ERBB4	2066	broad.mit.edu	37	2	213403254	213403254	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:213403253_213403253AT>A	uc002veg.1	-	0	100	c.2_2AT>T	c.(1-3)atgfs	p.M1fs	ERBB4_uc002veh.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zji.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010zjj.1_Frame_Shift_Del_p.M1fs|ERBB4_uc010fut.1_Frame_Shift_Del_p.M1fs	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1					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			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		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)		CGCCGGCTTCATTTTTTGGAA	0.612										TSP Lung(8;0.080)		
IRS1	3667	broad.mit.edu	37	2	227661341	227661341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:227661340_227661340GC>G	uc021vxn.1	-	0	2115	c.2115_2115GC>C	c.(2113-2115)ggcfs	p.G705fs	IRS1_uc002voh.4_Frame_Shift_Del_p.G705fs	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	705					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.G704R(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GAGAGTGGTGGCCCCCTACCC	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TRIP12	9320	broad.mit.edu	37	2	230724116	230724117	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:230724115_230724116G>GT	uc002vpx.1	-	3	508_509	c.399_400C>AC	c.(397-402)aaaccafs	p.K133fs	TRIP12_uc021vxw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Frame_Shift_Ins_p.K91fs|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Frame_Shift_Ins_p.K91fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	91					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGTGCTTTTGGTTTTTTTGCAG	0.436												
HDLBP	3069	broad.mit.edu	37	2	242179467	242179467	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr2:242179466_242179466GC>G	uc002waz.3	-	17	2414	c.2241_2241GC>C	c.(2239-2241)ggcfs	p.G747fs	HDLBP_uc002wba.3_Frame_Shift_Del_p.G747fs|HDLBP_uc021vzg.1_Frame_Shift_Del_p.G714fs	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	747	KH 9.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		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)		GAATTTTGCCGCCCCCCTTGC	0.547												
TATDN2	9797	broad.mit.edu	37	3	10312539	10312539	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:10312538_10312538TG>T	uc011atr.2	+	3	2253	c.1672_1672TG>T	c.(1672-1674)tggfs	p.W558fs	TATDN2_uc003bvg.2_Frame_Shift_Del_p.W558fs|TATDN2_uc003bvf.3_Frame_Shift_Del_p.W558fs|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	558						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGATCTGGTCTGGGGGGCCTT	0.507												
TMEM43	79188	broad.mit.edu	37	3	14175292	14175293	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:14175291_14175292A>AG	uc003byk.2	+	6	819_820	c.565_566A>AG	c.(565-567)aggfs	p.R189fs	TMEM43_uc003byl.1_Frame_Shift_Ins_p.R69fs	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	189						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						CCAAATTGGCAGGTTTTTCCTC	0.589												
KCNH8	131096	broad.mit.edu	37	3	19492702	19492704	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:19492701_19492703AAGG>A	uc003cbk.1	+	9	1825_1827	c.1630_1632AAGG>A	c.(1630-1632)aag>A	p.K544del	KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_In_Frame_Del_p.K5del|KCNH8_uc011awf.1_3'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	544						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCACTTGAACAAGGAGATCTTAC	0.463												
EOMES	8320	broad.mit.edu	37	3	27761703	27761703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:27761702_27761702GC>G	uc003cdy.3	-	1	996	c.996_996GC>C	c.(994-996)ggcfs	p.G332fs	EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	332					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCACCCATTTGCCCCCCTGGA	0.577												
TTC21A	199223	broad.mit.edu	37	3	39177852	39177852	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:39177851_39177851AT>A	uc003cjc.2	+	22	3146	c.2969_2969AT>A	c.(2968-2970)aatfs	p.N990fs	TTC21A_uc011ayx.1_Frame_Shift_Del_p.N942fs|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Frame_Shift_Del_p.N111fs	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	990							binding	p.P989T(1)|p.P989Q(1)|p.P989K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATTTTAGACAATTTTTTGGTA	0.438												
ROBO2	6092	broad.mit.edu	37	3	77684125	77684125	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	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												
DHX36	170506	broad.mit.edu	37	3	154010357	154010358	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:154010356_154010357TTC>T	uc003ezy.4	-	14	1878_1879	c.1797_1798GAA>A	c.(1795-1800)agaaaafs	p.R599fs	DHX36_uc010hvq.3_Frame_Shift_Del_p.R585fs|DHX36_uc003ezz.4_Frame_Shift_Del_p.R599fs	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	599	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCTCGACCTTTTCTCTGTTTGG	0.366												
LRRC31	79782	broad.mit.edu	37	3	169557805	169557805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr3:169557804_169557804CT>C	uc003fgc.1	-	8	1690	c.1625_1625AG>G	c.(1624-1626)agafs	p.R542fs	LRRC31_uc010hwp.1_Frame_Shift_Del_p.R486fs	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	542										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GTGAATGCTTCTTTTTTTATC	0.408												
SLC30A9	10463	broad.mit.edu	37	4	42037307	42037307	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:42037306_42037306CA>C	uc003gwl.3	+	6	771	c.625_625CA>C	c.(625-627)caafs	p.Q209fs	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	209					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATTTAGAAACCAAAAAATATT	0.303												
SRD5A3	79644	broad.mit.edu	37	4	56225516	56225516	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:56225515_56225515AT>A	uc003hau.3	+	1	340	c.224_224AT>A	c.(223-225)tatfs	p.Y75fs		NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	75					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			TTTTGCAGATATTTTTCCCAC	0.433												
SRP72	6731	broad.mit.edu	37	4	57340350	57340350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:57340349_57340349GA>G	uc003hbv.3	+	3	524	c.484_484GA>G	c.(484-486)gaafs	p.E162fs	SRP72_uc010ihe.3_Frame_Shift_Del_p.E162fs	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	162					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AAGCAATTGGGAAAAAGTGGT	0.398												
TRAM1L1	133022	broad.mit.edu	37	4	118005517	118005518	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:118005516_118005517C>CT	uc003ibv.4	-	0	1220_1221	c.1033_1034G>AG	c.(1033-1035)agafs	p.R345fs		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGAA	0.386												
MAD2L1	4085	broad.mit.edu	37	4	120981393	120981393	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:120981392_120981392AT>A	uc003idl.2	-	4	623	c.499_499AT>T	c.(499-501)tggfs	p.W167fs	MAD2L1_uc003idm.2_3'UTR	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA.	167	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	p.W167L(1)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GACTCTTCCCATTTTTCAGGT	0.358												
HMGB2	3148	broad.mit.edu	37	4	174254712	174254714	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:174254711_174254713TTTC>T	uc011ckc.1	-	0	208_210	c.88_90GAAA>A	c.(88-90)aaa>A	p.K30del	HMGB2_uc003ita.3_In_Frame_Del_p.K30del|HMGB2_uc003itb.2_In_Frame_Del_p.K30del	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	30					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGTCCGGGTGTTTCTTCTTGTGC	0.567												
TLR3	7098	broad.mit.edu	37	4	186997805	186997806	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr4:186997804_186997805T>TG	uc003iyq.3	+	1	132_133	c.31_32T>TG	c.(31-33)tggfs	p.W11fs		NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	11					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446												
ZNF608	57507	broad.mit.edu	37	5	123984684	123984684	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:123984683_123984683GC>G	uc003ktq.1	-	3	1577	c.1394_1394GC>C	c.(1393-1395)gccfs	p.A465fs	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Frame_Shift_Del_p.A465fs|ZNF608_uc003ktt.1_Frame_Shift_Del_p.A465fs	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	465						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTCCCATTGGCCCCCCCTCT	0.627												
SPINK5	11005	broad.mit.edu	37	5	147478860	147478860	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:147478859_147478859GA>G	uc003lox.2	+	11	1146	c.1073_1073GA>G	c.(1072-1074)ggafs	p.G358fs	SPINK5_uc010jgs.1_Frame_Shift_Del_p.G330fs|SPINK5_uc010jgr.2_Frame_Shift_Del_p.G339fs|SPINK5_uc003low.2_Frame_Shift_Del_p.G358fs|SPINK5_uc003loy.2_Frame_Shift_Del_p.G358fs	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	358					anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGAATCTGGAAAAGCAACC	0.378												
SLC26A2	1836	broad.mit.edu	37	5	149357647	149357647	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:149357646_149357646CT>C	uc003lrh.3	+	1	699	c.431_431CT>C	c.(430-432)tctfs	p.S144fs		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	144						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGTACACATCTTTTTTTGCC	0.463												
WWC1	23286	broad.mit.edu	37	5	167895969	167895969	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr5:167895968_167895968AT>A	uc003lzu.3	+	22	3381	c.3288_3288AT>A	c.(3286-3288)gcafs	p.A1096fs	WWC1_uc003lzv.3_Frame_Shift_Del_p.A1101fs|WWC1_uc011den.2_Frame_Shift_Del_p.A1102fs|WWC1_uc003lzw.3_Frame_Shift_Del_p.A894fs	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	1096	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGAAGATGGCATTTTTCACCC	0.488												
GCM2	9247	broad.mit.edu	37	6	10876681	10876682	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:10876680_10876681G>GA	uc003mzn.4	-	2	525_526	c.453_454C>TC	c.(451-456)tttcagfs	p.F151fs	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	151					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			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGACCTACCTGAAAAAAGATCG	0.500												
KIF13A	63971	broad.mit.edu	37	6	17788023	17788023	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:17788022_17788022CT>C	uc003ncg.4	-	26	3506	c.3346_3346AG>G	c.(3346-3348)gtcfs	p.V1116fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.V1103fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.V1116fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.V1103fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1116					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTATTGCTGACTTTTTTTATC	0.418												
SLC17A1	6568	broad.mit.edu	37	6	25830753	25830754	+	Splice_Site	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:25830752_25830753C>CT	uc003nfh.4	-	2	150	c.34_splice	c.e2+1	p.V12_splice	SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.V12_splice|SLC17A1_uc010jqc.1_Splice_Site_p.V10_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	12					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.K11K(1)|p.V12L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGTGCTACCTTTTTTGGGAG	0.401												
DDX43	55510	broad.mit.edu	37	6	74117732	74117732	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:74117731_74117731TA>T	uc003pgw.3	+	8	1430	c.1086_1086TA>T	c.(1084-1086)cttfs	p.L362fs	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	362	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TAGAAGAGCTTAAAAAAGGTG	0.323												
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767597	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:127767595_127767596T>TC	uc011ebs.2	-	4	2204_2205	c.1868_1869A>GA	c.(1867-1869)ggafs	p.G623fs	KIAA0408_uc003qbc.3_Frame_Shift_Ins_p.G623fs|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Intron|KIAA0408_uc003qbb.3_Frame_Shift_Ins_p.G506fs	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401												
IFNGR1	3459	broad.mit.edu	37	6	137527319	137527320	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:137527318_137527319C>CT	uc003qho.2	-	2	430_431	c.327_328G>AG	c.(325-330)aaagaafs	p.K109fs	IFNGR1_uc011edm.1_Frame_Shift_Ins_p.K81fs|IFNGR1_uc011edn.1_Frame_Shift_Ins_p.K99fs	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	109					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TAGGCAGATTCTTTTTGTCCAA	0.347												
TNFAIP3	7128	broad.mit.edu	37	6	138199674	138199675	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr6:138199673_138199674GGA>G	uc003qhr.3	+	6	1157_1158	c.1091_1092GGA>G	c.(1090-1092)aggfs	p.R364fs	TNFAIP3_uc003qhs.3_Frame_Shift_Del_p.R364fs|TNFAIP3_uc021zfv.1_5'UTR	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	364					B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.R364G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GAGCAGGGGAGGAGAGAGGGGC	0.475			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""							
AHR	196	broad.mit.edu	37	7	17379636	17379636	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:17379635_17379635AC>A	uc011jxz.1	+	9	2799	c.2186_2186AC>A	c.(2185-2187)tacfs	p.Y729fs		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	729					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CCATCCCCATACCCCACTACT	0.393												
RAPGEF5	9771	broad.mit.edu	37	7	22175700	22175700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:22175699_22175699CT>C	uc003svg.3	-	22	2227	c.1914_1914AG>G	c.(1912-1914)aagfs	p.K638fs	RAPGEF5_uc011jyl.1_Frame_Shift_Del_p.K319fs	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	488					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			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGCTTCATCTTTTTGAATG	0.338												
SUN3	256979	broad.mit.edu	37	7	48068494	48068494	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:48068493_48068493TA>T	uc003tof.3	-	1	140	c.43_43TA>A	c.(43-45)agafs	p.R15fs	SUN3_uc003tog.3_Frame_Shift_Del_p.R15fs|SUN3_uc011kcf.2_5'UTR	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	15						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCAACGTCTAAAAAACATG	0.473												
PCLO	27445	broad.mit.edu	37	7	82578856	82578857	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:82578855_82578856C>CT	uc003uhx.2	-	5	11337_11338	c.11048_11049G>AG	c.(11047-11049)aagfs	p.K3683fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K3683fs|PCLO_uc010lec.3_Frame_Shift_Ins_p.K648fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3614					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GACTCAGAGGCTTGGGGTCAGA	0.475												
CBLL1	79872	broad.mit.edu	37	7	107399402	107399402	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:107399401_107399401AC>A	uc003veq.3	+	5	1584	c.1254_1254AC>A	c.(1252-1254)gcafs	p.A418fs	CBLL1_uc011kme.2_Frame_Shift_Del_p.A297fs|CBLL1_uc011kmf.2_Frame_Shift_Del_p.A417fs	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	418	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CTGTAACTGCACCCCCTCCTC	0.517												
CNOT4	4850	broad.mit.edu	37	7	135106951	135106951	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:135106950_135106950GT>G	uc003vsv.2	-	2	658	c.327_327AC>C	c.(325-327)aacfs	p.N109fs	CNOT4_uc011kpy.2_Frame_Shift_Del_p.N109fs|CNOT4_uc011kpz.2_Frame_Shift_Del_p.N109fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.N109fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.N109fs|CNOT4_uc003vsu.2_Frame_Shift_Del_p.N109fs	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	109	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTA	0.353												
NUP205	23165	broad.mit.edu	37	7	135291627	135291628	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:135291626_135291627G>GA	uc003vsw.3	+	20	3064_3065	c.3033_3034G>GA	c.(3031-3036)ttgaaafs	p.L1011fs		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1011					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTTTGAATTGAAAAAACCTGT	0.401												
ZNF282	8427	broad.mit.edu	37	7	148895815	148895815	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr7:148895814_148895814GC>G	uc003wfm.3	+	1	660	c.555_555GC>G	c.(553-555)ctgfs	p.L185fs	ZNF282_uc011kun.1_Frame_Shift_Del_p.L185fs|ZNF282_uc003wfn.3_Frame_Shift_Del_p.L125fs|ZNF282_uc003wfo.3_Frame_Shift_Del_p.L125fs	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	185					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		TCCTGCGGCTGCCCCCGGGCA	0.612												
ZFHX4	79776	broad.mit.edu	37	8	77617547	77617548	+	Frame_Shift_Ins	INS	-	-	G	rs13252403		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr8:77617546_77617547T>TG	uc003yau.2	+	1	1610_1611	c.1223_1224T>TG	c.(1222-1224)ctgfs	p.L408fs	ZFHX4_uc003yat.1_Frame_Shift_Ins_p.L408fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.L408fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	408						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAGTGAATCTGGGGGGGCTGT	0.535										HNSCC(33;0.089)		
C9orf131	138724	broad.mit.edu	37	9	35043650	35043650	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:35043649_35043649AC>A	uc003zvw.3	+	1	1052	c.1023_1023AC>A	c.(1021-1023)ccafs	p.P341fs	C9orf131_uc003zvu.3_Frame_Shift_Del_p.P293fs|C9orf131_uc003zvv.3_Frame_Shift_Del_p.P268fs|C9orf131_uc003zvx.3_Frame_Shift_Del_p.P306fs	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	341										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCCGATGCCACCCCCCTGCC	0.527												
FANCG	2189	broad.mit.edu	37	9	35075485	35075485	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:35075484_35075484CT>C	uc003zwb.1	-	9	1903	c.1411_1411AG>G	c.(1411-1413)gtgfs	p.V471fs	VCP_uc003zvy.2_5'Flank|VCP_uc010mkh.1_5'Flank|FANCG_uc010mkj.1_Frame_Shift_Del_p.V213fs|FANCG_uc011lot.1_Frame_Shift_Del_p.V471fs	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	471					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.V471E(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTAATTGCCACTTTTTGGGCA	0.557			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks				
NOL8	55035	broad.mit.edu	37	9	95069255	95069255	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:95069254_95069254CT>C	uc022bjx.1	-	10	3076	c.2739_2739AG>G	c.(2737-2739)aagfs	p.K913fs	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Frame_Shift_Del_p.K845fs	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	913					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCAGGGCTTTCTTTTTTTCTT	0.343												
ABCA1	19	broad.mit.edu	37	9	107593323	107593324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:107593322_107593323G>GC	uc004bcl.3	-	13	2179_2180	c.1775_1776C>GC	c.(1774-1776)ggcfs	p.G592fs		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	592					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540												
GPR107	57720	broad.mit.edu	37	9	132862925	132862927	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:132862924_132862926TCTC>T	uc004bze.2	+	10	1183_1185	c.956_958TCTC>T	c.(955-960)atctcc>aTcc	p.S321del	GPR107_uc004bzb.2_In_Frame_Del_p.S132del|GPR107_uc011mbx.1_In_Frame_Del_p.S321del|GPR107_uc004bzd.2_In_Frame_Del_p.S321del	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	321						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TACCACTACATCTCCTCCCAGGG	0.419												
NUP214	8021	broad.mit.edu	37	9	134073110	134073110	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:134073109_134073109GT>G	uc004cag.3	+	28	4339	c.4228_4228GT>G	c.(4228-4230)gttfs	p.V1410fs	NUP214_uc004cah.3_Frame_Shift_Del_p.V1400fs|NUP214_uc004cai.3_Frame_Shift_Del_p.V840fs|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Frame_Shift_Del_p.V236fs|NUP214_uc011mcf.1_Frame_Shift_Del_p.V187fs|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1410	11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CTCAACTGCCGTTTTTGGCAG	0.557			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""							
WDR5	11091	broad.mit.edu	37	9	137019598	137019598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr9:137019597_137019597AC>A	uc004cey.3	+	9	812	c.641_641AC>A	c.(640-642)aacfs	p.N214fs	WDR5_uc004cez.3_Frame_Shift_Del_p.N214fs	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	214					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		GATGACGACAACCCCCCCGTG	0.627												
FRMD4A	55691	broad.mit.edu	37	10	13708227	13708227	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:13708226_13708226GT>G	uc001ims.3	-	17	1826	c.1474_1474AC>C	c.(1474-1476)ctgfs	p.L492fs	FRMD4A_uc009xjf.1_Frame_Shift_Del_p.L492fs|FRMD4A_uc001imt.1_Frame_Shift_Del_p.L525fs	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	492						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGTTTCTTCAGTTTTTTGCTG	0.502												
NSUN6	221078	broad.mit.edu	37	10	18834895	18834895	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:18834894_18834894TA>T	uc010qcp.1	-	10	1796	c.1378_1378TA>A	c.(1378-1380)attfs	p.I460fs	NSUN6_uc001iqb.3_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	Homo sapiens NOP2/Sun domain family, member 6 (NSUN6), mRNA.	460							RNA binding|methyltransferase activity			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATTTTGCAATAAAAAAACCT	0.393												
TET1	80312	broad.mit.edu	37	10	70332273	70332273	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:70332272_70332272GA>G	uc001jok.4	+	1	682	c.177_177GA>G	c.(175-177)aagfs	p.K59fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	59					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			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGATGTTAAGAAAAAAACAG	0.413												
PTEN	5728	broad.mit.edu	37	10	89693003	89693003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:89693002_89693002CA>C	uc001kfb.3	+	4	1518	c.486_486CA>C	c.(484-486)gacfs	p.D162fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	162	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.R161I(2)|p.Y27fs*1(2)|p.R161K(2)|p.Y27_N212>Y(2)|p.D162fs*8(2)|p.R161G(1)|p.D162H(1)|p.D162V(1)|p.F56fs*2(1)|p.D162G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACCAGAGACAAAAAGGTAA	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
MYOF	26509	broad.mit.edu	37	10	95113648	95113648	+	Splice_Site	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:95113647_95113647TA>T	uc001kin.3	-	32	3527	c.3404_splice	c.e32-1	p.R1135_splice	MYOF_uc001kio.3_Splice_Site_p.R1122_splice|MYOF_uc009xue.3_Splice_Site	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1135	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGTAGACTCCTAAAAAAACAG	0.343												
ZDHHC6	64429	broad.mit.edu	37	10	114200298	114200298	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr10:114200297_114200297TA>T	uc001kzv.3	-	4	1100	c.676_676TA>A	c.(676-678)atcfs	p.I226fs	ZDHHC6_uc001kzw.3_Frame_Shift_Del_p.I222fs|ZDHHC6_uc009xya.1_Frame_Shift_Del_p.I226fs	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	226						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CTTACCTGGATAAAAAACAAC	0.398												
OR52N2	390077	broad.mit.edu	37	11	5842336	5842336	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:5842335_5842335CT>C	uc010qzp.2	+	0	770	c.770_770CT>C	c.(769-771)gctfs	p.A257fs	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A256A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGTTGCTGCTTTTTTCACT	0.453												
GANAB	23193	broad.mit.edu	37	11	62407174	62407174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:62407173_62407173TA>T	uc001nua.3	-	1	102	c.69_69TA>A	c.(67-69)ttafs	p.L23fs	GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	23					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGCAGACCCCTAAAAAAGCCA	0.478												
APOA1	335	broad.mit.edu	37	11	116707832	116707832	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:116707831_116707831TG>T	uc001ppv.1	-	2	124	c.86_86CA>A	c.(85-87)cagfs	p.Q29fs		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	29					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCAGGGGCTCTGGGGGGGTTC	0.607												
IL10RA	3587	broad.mit.edu	37	11	117864040	117864040	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:117864039_117864039GC>G	uc001prv.3	+	3	528	c.451_451GC>G	c.(451-453)gccfs	p.A151fs	IL10RA_uc010rxl.2_Frame_Shift_Del_p.A131fs|IL10RA_uc010rxm.2_Frame_Shift_Del_p.A131fs|IL10RA_uc010rxn.2_Frame_Shift_Del_p.A2fs|IL10RA_uc001prw.3_Frame_Shift_Del_p.A2fs	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	151						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GCCCAAGATGGCCCCCGCAAA	0.517												
C11orf63	79864	broad.mit.edu	37	11	122817463	122817463	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr11:122817462_122817462GA>G	uc001pym.3	+	5	2188	c.1891_1891GA>G	c.(1891-1893)gaafs	p.E631fs		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	631										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTTTCAACTGGAAAAGGGAAA	0.388												
DYRK4	8798	broad.mit.edu	37	12	4719362	4719362	+	Frame_Shift_Del	DEL	A	A	-	rs80196697		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:4719361_4719361GA>G	uc009zeh.1	+	12	1443	c.1401_1401GA>G	c.(1399-1401)gggfs	p.G467fs	DYRK4_uc001qmx.3_Frame_Shift_Del_p.G352fs|DYRK4_uc001qmy.2_Frame_Shift_Del_p.G352fs|DYRK4_uc021qtq.1_Frame_Shift_Del_p.G206fs|DYRK4_uc001qmz.2_Frame_Shift_Del_p.G66fs|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	352						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G754G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACAACAGGGGGAAAAAAAGAT	0.393												
CMAS	55907	broad.mit.edu	37	12	22214223	22214224	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:22214222_22214223T>TA	uc001rfm.3	+	5	875_876	c.796_797T>TA	c.(796-798)tatfs	p.Y266fs	CMAS_uc001rfn.3_Intron	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	Homo sapiens cytidine monophosphate N-acetylneuraminic acid synthetase (CMAS), mRNA.	266					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						TAGATATGGCTATTTTGGCAAA	0.371												
MCRS1	10445	broad.mit.edu	37	12	49959312	49959314	+	Splice_Site	DEL	CTT	CTT	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:49959311_49959313CCTT>C	uc001rui.1	-	3	327	c.327_splice	c.e3+1	p.K109_splice	MCRS1_uc001ruj.2_Splice_Site_p.K83_splice|MCRS1_uc001ruk.1_Splice_Site_p.K96_splice|MCRS1_uc009zlj.1_Splice_Site	NM_001012300	NP_001012300	Q96EZ8	MCRS1_HUMAN	Homo sapiens microspherule protein 1 (MCRS1), transcript variant 2, mRNA.	96					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|cytoplasm|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						CAATTCCTCACCTTCTTCTTCTC	0.581												
INHBE	83729	broad.mit.edu	37	12	57850545	57850546	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57850544_57850545CCT>C	uc001snw.3	+	1	1190_1191	c.966_967CCT>C	c.(964-969)cccctcfs	p.P322fs		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	322					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CCCGAAGGCCCCTCTCTCTCCT	0.564											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	57860075	57860075	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:57860074_57860074TG>T	uc001snx.3	+	7	908	c.814_814TG>T	c.(814-816)tggfs	p.W272fs	GLI1_uc021qzi.1_Frame_Shift_Del_p.W231fs|GLI1_uc009zpq.3_Frame_Shift_Del_p.W144fs	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	272					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CGTGTGCCACTGGGGGGGCTG	0.597												
MON2	23041	broad.mit.edu	37	12	62960172	62960172	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:62960171_62960171CA>C	uc001sre.3	+	28	4655	c.4264_4264CA>C	c.(4264-4266)caafs	p.Q1422fs	MON2_uc010ssn.2_Frame_Shift_Del_p.Q1416fs|MON2_uc009zqj.3_Frame_Shift_Del_p.Q1422fs|MON2_uc010ssl.2_Frame_Shift_Del_p.Q1350fs|MON2_uc010ssm.2_Frame_Shift_Del_p.Q1393fs|MON2_uc001srf.3_Frame_Shift_Del_p.Q1185fs|MON2_uc001srg.3_Frame_Shift_Del_p.Q291fs	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1423					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		GGATTTATACCAAAAAACAGC	0.358												
C12orf51	283450	broad.mit.edu	37	12	112600860	112600861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr12:112600859_112600860T>TG	uc021reb.1	-	74	13100_13101	c.12704_12705A>CA	c.(12703-12705)ccafs	p.P4235fs		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTGTGCCATCTGGGGGGGCGAT	0.629												
FBXO21	23014	broad.mit.edu	37	12	117624320	117624320	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	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												
SACS	26278	broad.mit.edu	37	13	23906662	23906662	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:23906661_23906661CT>C	uc001uon.2	-	9	11943	c.11354_11354AG>G	c.(11353-11355)aggfs	p.R3785fs	SACS_uc001uoo.2_Frame_Shift_Del_p.R3638fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3785					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACGAAATTCCCTTTTTTCTGC	0.388												
SACS	26278	broad.mit.edu	37	13	23915477	23915477	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:23915476_23915476GT>G	uc001uon.2	-	9	3128	c.2539_2539AC>C	c.(2539-2541)cttfs	p.L847fs	SACS_uc001uoo.2_Frame_Shift_Del_p.L700fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	847					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACCCTCCAAGTTTTTGTACA	0.343												
PABPC3	5042	broad.mit.edu	37	13	25670802	25670802	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:25670801_25670801TA>T	uc001upy.3	+	0	526	c.465_465TA>T	c.(463-465)attfs	p.I155fs		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	155	RRM 2.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGAGCTATTAAAAAAATGA	0.398												
NUFIP1	26747	broad.mit.edu	37	13	45554925	45554925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:45554924_45554924CA>C	uc001uzp.2	-	2	569	c.527_527TG>G	c.(526-528)tgtfs	p.C176fs		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	176					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		ACAGGTATCACAAAAAAAGTG	0.308												
RNF219	79596	broad.mit.edu	37	13	79190057	79190057	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:79190056_79190056GA>G	uc001vkw.1	-	5	1899	c.1840_1840TC>C	c.(1840-1842)ctcfs	p.L614fs	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Frame_Shift_Del_p.L424fs	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	614	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGAGAGAGGAGAAAAAAAGAA	0.368												
SLITRK6	84189	broad.mit.edu	37	13	86368997	86368997	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:86368996_86368996CG>C	uc001vll.1	-	1	2107	c.1648_1648CG>G	c.(1648-1650)gggfs	p.G550fs	SLITRK6_uc021rla.1_Frame_Shift_Del_p.G550fs	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	550	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TCGAGATGCCCGGGGGAAGTG	0.453												
RNF113B	140432	broad.mit.edu	37	13	98828697	98828697	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:98828696_98828696GT>G	uc001vnk.3	-	0	826	c.795_795AC>C	c.(793-795)aacfs	p.N265fs	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	265							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGACGACTGGGTTTTGGAAGG	0.567												
NALCN	259232	broad.mit.edu	37	13	101742086	101742086	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:101742085_101742085CA>C	uc001vox.1	-	29	3607	c.3418_3418TG>G	c.(3418-3420)gtafs	p.V1140fs		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1140						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCCAGGAATACAAAAACATGA	0.353												
FAM70B	348013	broad.mit.edu	37	13	114514859	114514859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:114514858_114514858AC>A	uc001vuh.3	+	8	990	c.963_963AC>A	c.(961-963)ccafs	p.P321fs		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	321	Pro-rich.					integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			GGGAGAAGCCACCCCCCTACG	0.557												
RASA3	22821	broad.mit.edu	37	13	114751195	114751195	+	Frame_Shift_Del	DEL	G	G	-	rs145099620	byFrequency	TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr13:114751194_114751194TG>T	uc001vui.3	-	22	2452	c.2321_2321CA>A	c.(2320-2322)cagfs	p.Q774fs	RASA3_uc010tkk.2_Frame_Shift_Del_p.Q742fs|RASA3_uc001vuj.3_Frame_Shift_Del_p.Q391fs	NM_007368	NP_031394	Q14644	RASA3_HUMAN	Homo sapiens RAS p21 protein activator 3 (RASA3), mRNA.	774					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|calcium-release channel activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GTAGGTCTCCTGGGGGTCGTC	0.567												
SOS2	6655	broad.mit.edu	37	14	50585272	50585274	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:50585271_50585273TAGG>T	uc001wxs.4	-	22	3886_3888	c.3788_3790CCTA>A	c.(3787-3792)cctagc>cAgc	p.1263_1264PS>Q	SOS2_uc010ans.3_In_Frame_Del_p.98_99PS>Q|SOS2_uc010tql.2_In_Frame_Del_p.1230_1231PS>Q|METTL21D_uc001wxn.1_5'Flank|METTL21D_uc001wxp.1_5'Flank|METTL21D_uc001wxq.1_5'Flank|METTL21D_uc001wxo.1_5'Flank	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	1263					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.S1264N(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAGGGTGTGCTAGGAGGAGTGCT	0.512												
ENTPD5	957	broad.mit.edu	37	14	74449797	74449797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:74449796_74449796CT>C	uc010tuo.2	-	5	677	c.366_366AG>G	c.(364-366)aagfs	p.K122fs	ENTPD5_uc001xpi.3_Frame_Shift_Del_p.K122fs	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	122					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		CCACTGGGGTCTTTTTCCAGT	0.483												
YLPM1	56252	broad.mit.edu	37	14	75230817	75230819	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:75230816_75230818ATCC>A	uc001xqj.4	+	0	748_750	c.624_626ATCC>A	c.(622-627)tcatcc>tcAc	p.208_209SS>S		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTTCTTACTCATCCTCCTCCTCT	0.601												
SERPINA1	5265	broad.mit.edu	37	14	94844885	94844885	+	Frame_Shift_Del	DEL	G	G	-	rs121912712		TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:94844884_94844884CG>C	uc001ycy.4	-	6	1713	c.1159_1159CG>G	c.(1159-1161)gagfs	p.E387fs	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auy.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ycz.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auz.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010ava.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydb.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010avb.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc001ydc.4_Frame_Shift_Del_p.E387fs|SERPINA1_uc010auw.3_Frame_Shift_Del_p.E387fs|SERPINA1_uc010aux.3_Frame_Shift_Del_p.E387fs	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	387	RCL.		E -> K (in Christchurch).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AACTTGACCTCGGGGGGGATA	0.488												
BDKRB1	623	broad.mit.edu	37	14	96731011	96731012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:96731010_96731011A>AC	uc021sbj.1	+	0	991_992	c.991_992A>AC	c.(991-993)accfs	p.T331fs	BDKRB1_uc001yfh.3_Frame_Shift_Ins_p.T331fs	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	331					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TAAACAATGCACCCCTAAAAGT	0.426												
BRF1	2972	broad.mit.edu	37	14	105692604	105692604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr14:105692603_105692603GT>G	uc001yqp.2	-	8	1303	c.940_940AC>C	c.(940-942)ctgfs	p.L314fs	BRF1_uc010tyo.1_Frame_Shift_Del_p.L199fs|BRF1_uc010typ.1_Frame_Shift_Del_p.L199fs|BRF1_uc001yql.2_Frame_Shift_Del_p.L110fs|BRF1_uc001yqo.2_Frame_Shift_Del_p.L76fs|BRF1_uc010axg.1_Frame_Shift_Del_p.L287fs|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	314					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACCTCCTCCAGTTTTTTTGAC	0.478												
ZFP106	64397	broad.mit.edu	37	15	42742969	42742970	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:42742968_42742969G>GT	uc001zpw.3	-	1	1759_1760	c.1432_1433C>AC	c.(1432-1434)acafs	p.T478fs	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Frame_Shift_Ins_p.T261fs|ZFP106_uc001zpy.1_Frame_Shift_Ins_p.T501fs	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	478						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)		AAAAAAATTTGTTTTGGTGTTT	0.396												
SLC12A1	6557	broad.mit.edu	37	15	48577440	48577440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:48577439_48577439TA>T	uc001zwn.4	+	20	2838	c.2622_2622TA>T	c.(2620-2622)cctfs	p.P874fs	SLC12A1_uc010uew.1_Frame_Shift_Del_p.P680fs|SLC12A1_uc010bem.3_Frame_Shift_Del_p.P874fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.P645fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.P601fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	874					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AGACAACGCCTAAAAAAGGTA	0.373												
DMXL2	23312	broad.mit.edu	37	15	51780825	51780826	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:51780824_51780825G>GA	uc010ufy.2	-	20	5196_5197	c.4971_4972C>TC	c.(4969-4974)tttcaafs	p.F1657fs	DMXL2_uc002abf.3_Frame_Shift_Ins_p.F1657fs|DMXL2_uc010bfa.3_Frame_Shift_Ins_p.F1021fs	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1657						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTGTTCCTTTGAAAAGAAGCTT	0.332												
KIAA1199	57214	broad.mit.edu	37	15	81173394	81173394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr15:81173393_81173393AT>A	uc002bfw.1	+	4	793	c.533_533AT>A	c.(532-534)tatfs	p.Y178fs	KIAA1199_uc010unn.1_Frame_Shift_Del_p.Y178fs	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	178										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAAGGAGGCTATTTTTTTGAA	0.498												
KIAA0430	9665	broad.mit.edu	37	16	15690614	15690614	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:15690613_15690613CT>C	uc002ddr.3	-	26	5373	c.5166_5166AG>G	c.(5164-5166)aagfs	p.K1722fs	KIAA0430_uc002ddq.3_Frame_Shift_Del_p.K1556fs|KIAA0430_uc010uzv.2_Frame_Shift_Del_p.K1719fs|KIAA0430_uc010uzw.2_Frame_Shift_Del_p.K1722fs	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1721						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TTTTGGGTTGCTTTTTGGCCG	0.512												
ERN2	10595	broad.mit.edu	37	16	23702513	23702524	+	Splice_Site	DEL	CAGATCTGTGGA	CAGATCTGTGGA	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:23702512_23702523TCAGATCTGTGGA>T	uc002dma.4	-	21	2814	c.2645_splice	c.e21-1	p.D882_splice	ERN2_uc010bxp.3_Splice_Site_p.D830_splice	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	834	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGGAACTTTCTCAGATCTGTGGACAGGGAATT	0.608												
CA7	766	broad.mit.edu	37	16	66885451	66885452	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:66885450_66885451G>GT	uc002eqi.3	+	3	551_552	c.442_443G>GT	c.(442-444)gttfs	p.V148fs	AF086125_uc002eqh.3_Intron|CA7_uc002eqj.3_Frame_Shift_Ins_p.V92fs	NM_005182	NP_001014435	P43166	CAH7_HUMAN	Homo sapiens carbonic anhydrase VII (CA7), transcript variant 1, mRNA.	148					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TGTGGTTGGTGTTTTTTTGGAG	0.579												
CTCF	10664	broad.mit.edu	37	16	67645339	67645339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:67645338_67645338CA>C	uc002etl.3	+	2	1047	c.603_603CA>C	c.(601-603)gccfs	p.A201fs	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	201					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGCCACCAGCCAAAAAAACAA	0.473												
ZNF23	7571	broad.mit.edu	37	16	71483562	71483562	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr16:71483561_71483561TA>T	uc002faf.3	-	5	1181	c.367_367TA>A	c.(367-369)agtfs	p.S123fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.S123fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.S65fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.S65fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.S65fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.S162fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GAACTTTGACTAAAAAAACAC	0.443												
TSR1	55720	broad.mit.edu	37	17	2239337	2239339	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:2239336_2239338CCTT>C	uc002fuj.3	-	1	1151_1153	c.194_196AAGG>G	c.(193-198)aaggag>aGag	p.65_66KE>R	SGSM2_uc002fum.4_5'Flank|SGSM2_uc002fun.4_5'Flank|SGSM2_uc010vqw.2_5'Flank	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	65					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTCACCGCCTCCTTCTTCTGCTT	0.567												
RNF43	54894	broad.mit.edu	37	17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:56435160_56435160AC>A	uc002iwf.3	-	7	3933	c.1977_1977GT>T	c.(1975-1977)ggtfs	p.G659fs	RNF43_uc010wnv.2_Frame_Shift_Del_p.G618fs|RNF43_uc002iwh.4_Frame_Shift_Del_p.G659fs|RNF43_uc002iwg.4_Frame_Shift_Del_p.G659fs|RNF43_uc010dcw.3_Frame_Shift_Del_p.G532fs	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTCGGAGGGACCCCCCCGCC	0.597												
TMEM104	54868	broad.mit.edu	37	17	72832361	72832362	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:72832360_72832361T>TCG	uc002jls.4	+	9	1187_1188	c.1025_1026T>TCG	c.(1024-1026)ttcfs	p.F342fs	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Frame_Shift_Ins_p.F342fs	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	342						integral to membrane		p.F342F(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCCTCAACTTCGCGCGCTGTG	0.614												
FOXK2	3607	broad.mit.edu	37	17	80545092	80545092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr17:80545091_80545091CA>C	uc002kfn.3	+	7	1900	c.1729_1729CA>C	c.(1729-1731)caafs	p.Q577fs	FOXK2_uc002kfm.1_Frame_Shift_Del_p.Q577fs|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	577					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			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AACTGTAACACAAAACGGCAC	0.567												
CTAGE1	64693	broad.mit.edu	37	18	19995706	19995706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:19995705_19995705TG>T	uc002ktv.1	-	0	2174	c.2070_2070CA>A	c.(2068-2070)ccafs	p.P690fs		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	690	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					CTGGAGGAGGTGGGGGGAAAG	0.498												
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:34205515_34205515AC>A	uc021uiv.1	+	9	1096	c.999_999AC>A	c.(997-999)ccafs	p.P333fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzt.1_Frame_Shift_Del_p.P333fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P158fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P86fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	333	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCACGGAGCCACCCCCCAGTG	0.677												
WDR7	23335	broad.mit.edu	37	18	54424020	54424020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr18:54424019_54424019CT>C	uc002lgk.1	+	14	2406	c.2195_2195CT>C	c.(2194-2196)tctfs	p.S732fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.S732fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	732										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAAGGGGGCTCTTTTTTAACT	0.428												
PDE4C	5143	broad.mit.edu	37	19	18329753	18329753	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:18329752_18329752GA>G	uc010xqc.2	-	8	1543	c.1063_1063TC>C	c.(1063-1065)cagfs	p.Q355fs	PDE4C_uc002nik.4_Frame_Shift_Del_p.Q355fs|PDE4C_uc002nil.4_Frame_Shift_Del_p.Q355fs|PDE4C_uc002nig.4_Frame_Shift_Del_p.Q125fs|PDE4C_uc002nih.4_Frame_Shift_Del_p.Q125fs|PDE4C_uc010ebk.3_Frame_Shift_Del_p.Q249fs|PDE4C_uc002nii.4_Frame_Shift_Del_p.Q323fs|PDE4C_uc002nif.4_Frame_Shift_Del_p.Q124fs|PDE4C_uc010ebl.3_Frame_Shift_Del_p.Q69fs	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	355					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTAGGTACCTGAAAAATGCTG	0.507												
ZNF626	199777	broad.mit.edu	37	19	20808338	20808338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:20808337_20808337CT>C	uc002npb.1	-	3	496	c.346_346AG>G	c.(346-348)ggafs	p.G116fs	ZNF626_uc002npc.1_Frame_Shift_Del_p.G40fs	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTATACATCCTTTTTTTAAC	0.348												
ZNF43	7594	broad.mit.edu	37	19	21992491	21992491	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:21992490_21992490CT>C	uc002nqj.3	-	3	479	c.349_349AG>G	c.(349-351)gacfs	p.D117fs	ZNF43_uc002nql.3_Frame_Shift_Del_p.D111fs|ZNF43_uc002nqm.3_Frame_Shift_Del_p.D111fs|ZNF43_uc010ecv.3_Frame_Shift_Del_p.D111fs|ZNF43_uc002nqk.3_Frame_Shift_Del_p.D47fs	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		CTTTTATGGTCTTTTTTTAAA	0.348												
RYR1	6261	broad.mit.edu	37	19	38939333	38939334	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:38939332_38939333G>GC	uc002oit.3	+	10	1131_1132	c.1001_1002G>GC	c.(1000-1002)ggcfs	p.G334fs	RYR1_uc002oiu.3_Frame_Shift_Ins_p.G334fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	334					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGGCATGGGCCCCCCTGAGA	0.639												
MAP3K10	4294	broad.mit.edu	37	19	40715080	40715080	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:40715079_40715079GC>G	uc002ona.3	+	5	1793	c.1505_1505GC>G	c.(1504-1506)agcfs	p.S502fs		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	502					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GATGGGGCCAGCCCCCCTGCA	0.547												
C19orf47	126526	broad.mit.edu	37	19	40834399	40834399	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:40834398_40834398TG>T	uc002oni.4	-	5	473	c.472_472CA>A	c.(472-474)aggfs	p.R158fs	C19orf47_uc002ong.3_Frame_Shift_Del_p.R17fs|C19orf47_uc002onh.3_Frame_Shift_Del_p.R91fs	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	158										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			TCCGGGCGCCTGGGGGGTGTG	0.617												
CIC	23152	broad.mit.edu	37	19	42796883	42796884	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:42796882_42796883G>GC	uc002otf.1	+	13	3380_3381	c.3340_3341G>GC	c.(3340-3342)gccfs	p.A1114fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1114	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCATCCCAGGCCCCCCCAAGC	0.683			"""Mis, F, S"""		oligodendroglioma							
IRGQ	126298	broad.mit.edu	37	19	44096194	44096194	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:44096193_44096193AG>A	uc002oww.2	-	1	1975	c.1857_1857CT>T	c.(1855-1857)cctfs	p.P619fs	IRGQ_uc010eiv.2_Frame_Shift_Del_p.P619fs	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	619							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GGGCAGGCTCAGGGGGTGCCA	0.652												
CD3EAP	10849	broad.mit.edu	37	19	45911872	45911872	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:45911871_45911871GA>G	uc002pbr.1	+	2	657	c.651_651GA>G	c.(649-651)aagfs	p.K217fs	PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_Frame_Shift_Del_p.K215fs|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	NM_012099	NP_036231	O15446	RPA34_HUMAN	Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.	215	Poly-Lys.				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	RNA polymerase I transcription factor complex|chromosome	DNA-directed RNA polymerase activity	p.K215N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		AGAAGAAGAAGAAAAAAAATC	0.587												
LENG1	79165	broad.mit.edu	37	19	54660581	54660582	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:54660580_54660581T>TC	uc002qdm.3	-	2	508_509	c.495_496A>GA	c.(493-498)gggaagfs	p.G165fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	165										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGTCTCTTCTTCCCCAGATGCT	0.634												
PTPRH	5794	broad.mit.edu	37	19	55708650	55708650	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:55708649_55708649CG>C	uc002qjq.3	-	8	1899	c.1826_1826CG>G	c.(1825-1827)cggfs	p.R609fs	PTPRH_uc010esv.3_Frame_Shift_Del_p.R431fs|PTPRH_uc002qjs.2_Frame_Shift_Del_p.R616fs	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	609	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTGCCCCCTCCGGGGATGTCC	0.577												
ZNF551	90233	broad.mit.edu	37	19	58264857	58264858	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr19:58264856_58264857G>GA	uc002qpx.3	+	2	581_582	c.358_359G>GA	c.(358-360)gaafs	p.E120fs	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Frame_Shift_Ins_p.E120fs	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGGGCATATGAAAAAAAATTG	0.446												
NDRG3	57446	broad.mit.edu	37	20	35284817	35284817	+	Splice_Site	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:35284816_35284816TG>T	uc002xfw.3	-	15	1037	c.895_splice	c.e15-1	p.P299_splice	NDRG3_uc002xfx.3_Splice_Site_p.P287_splice|NDRG3_uc010zvq.2_Splice_Site_p.P204_splice|NDRG3_uc010zvr.2_Splice_Site_p.P187_splice	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	Homo sapiens NDRG family member 3 (NDRG3), transcript variant 1, mRNA.	299					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTCCCAGGCTGGGGGGATAA	0.423												
RALGAPB	57148	broad.mit.edu	37	20	37182676	37182676	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr20:37182675_37182675CT>C	uc002xiw.3	+	21	3585	c.3328_3328CT>C	c.(3328-3330)cttfs	p.L1110fs	RALGAPB_uc002xix.3_Frame_Shift_Del_p.L1106fs|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Frame_Shift_Del_p.L888fs	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1110					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AACAGCCCGCCTTTTTCTCTC	0.428												
NRIP1	8204	broad.mit.edu	37	21	16339438	16339438	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr21:16339437_16339437AT>A	uc021whl.1	-	0	1077	c.1077_1077AT>T	c.(1075-1077)aatfs	p.N359fs	NRIP1_uc002yjx.2_Frame_Shift_Del_p.N359fs	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	359					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TATAACCTGCATTTTTAGGGG	0.368												
SEZ6L	23544	broad.mit.edu	37	22	26776238	26776239	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:26776237_26776238CAG>C	uc003acb.3	+	16	3247_3248	c.3051_3052CAG>C	c.(3049-3054)accagafs	p.T1017fs	SEZ6L_uc003acd.3_Frame_Shift_Del_p.T942fs|SEZ6L_uc011akd.2_Frame_Shift_Del_p.T1004fs|SEZ6L_uc003ace.3_Frame_Shift_Del_p.T941fs|SEZ6L_uc011akc.2_Frame_Shift_Del_p.T1006fs|SEZ6L_uc003acc.3_Frame_Shift_Del_p.T1016fs|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	1017						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TGCAGGAAACCAGAGAGTATGA	0.465												
TMPRSS6	164656	broad.mit.edu	37	22	37499436	37499436	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chr22:37499435_37499435TG>T	uc003aqt.1	-	1	85	c.23_23CA>A	c.(22-24)cagfs	p.Q8fs	TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.Q17fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.Q8fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	17					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GCCAGCCACCTGGGGGGCCTC	0.657												
TLR8	51311	broad.mit.edu	37	X	12939191	12939191	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:12939190_12939190GT>G	uc004cvd.3	+	2	2255	c.2085_2085GT>G	c.(2083-2085)aagfs	p.K695fs	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Frame_Shift_Del_p.K677fs	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	677					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ATATGTTAAAGTTTTTTAACT	0.368												
HEPH	9843	broad.mit.edu	37	X	65418738	65418741	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:65418737_65418740ATTCT>A	uc011moz.2	+	10	2030_2033	c.1893_1896ATTCT>A	c.(1891-1896)gaattcfs	p.E631fs	HEPH_uc004dwn.3_Frame_Shift_Del_p.E580fs|HEPH_uc004dwo.3_Frame_Shift_Del_p.E310fs|HEPH_uc010nkr.3_Intron|HEPH_uc011mpa.2_Frame_Shift_Del_p.E580fs	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	577	Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P632S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TGGATAAAGAATTCTTTCTTCTCT	0.426												
SLC6A14	11254	broad.mit.edu	37	X	115582770	115582771	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:115582769_115582770A>AT	uc004eqi.3	+	7	1224_1225	c.1093_1094A>AT	c.(1093-1095)attfs	p.I365fs		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	365					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGATTTGCTATTTTTTCTATA	0.332												
USP26	83844	broad.mit.edu	37	X	132160788	132160789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:132160787_132160788C>CA	uc011mvf.2	-	0	1513_1514	c.1461_1462G>TG	c.(1459-1464)tttggafs	p.F487fs	USP26_uc010nrm.1_Frame_Shift_Ins_p.F487fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.G488fs*6(4)|p.F487fs*7(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCTTCTGCTCCAAAAAAAAGAT	0.381												
SAGE1	55511	broad.mit.edu	37	X	134988609	134988609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BR-4256-01A-01D-1126-08	TCGA-BR-4256-11A-01D-1126-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	314e2003-3112-476a-b7c9-ecee8014938a	3537ea7a-6b33-4bdc-9e90-bfd976cdd753	g.chrX:134988608_134988608GA>G	uc004ezh.3	+	6	801	c.634_634GA>G	c.(634-636)gaafs	p.E212fs	SAGE1_uc010nry.1_Frame_Shift_Del_p.E181fs|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	212								p.E212G(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ACAGAAGATGGAAAATGTCCA	0.448												
