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
MCOLN2	255231	broad.mit.edu	37	1	85424250	85424250	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:85424250C>G	uc001dkm.2	-	3	614	c.373G>C	c.(373-375)GAG>CAG	p.E125Q	MCOLN2_uc001dkn.2_RNA	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	mucolipin 2	125						integral to membrane	ion channel activity			ovary(3)|upper_aerodigestive_tract(1)	4				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TAGGCATCCTCTTGAGTATAT	0.353000												
POLR3C	10623	broad.mit.edu	37	1	145608112	145608112	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:145608112C>G	uc001eoh.2	-	4	746	c.585G>C	c.(583-585)TTG>TTC	p.L195F	NBPF10_uc001emp.3_Intron|RNF115_uc001eoj.2_5'Flank|RNF115_uc001eok.2_5'Flank|RNF115_uc009wiy.2_5'Flank|POLR3C_uc001eog.2_Missense_Mutation_p.L208F|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Missense_Mutation_p.L195F	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	195					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CCTTACCTATCAAGCTGAGTT	0.413000												
F11R	50848	broad.mit.edu	37	1	160970514	160970514	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:160970514C>G	uc009wtt.2	-	4	565	c.295G>C	c.(295-297)GTG>CTG	p.V99L	F11R_uc010pjv.1_Intron|F11R_uc001fxe.3_Missense_Mutation_p.V99L|F11R_uc009wtu.2_Missense_Mutation_p.V99L|F11R_uc010pjw.1_Missense_Mutation_p.V103L|F11R_uc001fxf.3_Missense_Mutation_p.V99L	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	99	Extracellular (Potential).|Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TCCCGTGTCACGGACTTGAAG	0.537000												
LHX9	56956	broad.mit.edu	37	1	197898303	197898303	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:197898303A>G	uc001guk.1	+	5	1545	c.1108A>G	c.(1108-1110)ATC>GTC	p.I370V	LHX9_uc001gui.1_Missense_Mutation_p.I361V|LHX9_uc001guj.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	370					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						CAATCCCACTATCACTGTAGT	0.532000												
OR2W5	441932	broad.mit.edu	37	1	247654603	247654603	+	Silent	SNP	C	C	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:247654603C>A	uc001icz.1	+	1	174	c.174C>A	c.(172-174)CCC>CCA	p.P58P		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	58	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCCACACACCCATGTACTTCT	0.498000												
OR2L13	284521	broad.mit.edu	37	1	248262671	248262671	+	Translation_Start_Site	SNP	A	A	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:248262671A>T	uc001ids.2	+	3	331	c.-6A>T	c.(-8--4)AAAGT>AATGT			NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TACAGCAGAAAGTTTTCATGG	0.259000												
DMBT1	1755	broad.mit.edu	37	10	124377716	124377716	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr10:124377716A>G	uc001lgk.1	+	38	4794	c.4688A>G	c.(4687-4689)CAG>CGG	p.Q1563R	DMBT1_uc001lgl.1_Missense_Mutation_p.Q1553R|DMBT1_uc001lgm.1_Missense_Mutation_p.Q935R|DMBT1_uc009xzz.1_Missense_Mutation_p.Q1563R|DMBT1_uc010qtx.1_Missense_Mutation_p.Q414R|DMBT1_uc009yab.1_Missense_Mutation_p.Q266R|DMBT1_uc009yac.1_5'Flank	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	1563	SRCR 12.				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)				GGAAATGCCCAGTTTGGCCAG	0.612000												
OR4A47	403253	broad.mit.edu	37	11	48510989	48510989	+	Silent	SNP	T	T	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr11:48510989T>C	uc010rhx.1	+	1	645	c.645T>C	c.(643-645)TCT>TCC	p.S215S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A,	215	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2						TACTCATCTCTTATGGTGTCA	0.463000												
OR5M3	219482	broad.mit.edu	37	11	56237826	56237826	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr11:56237826T>C	uc010rjk.1	-	1	148	c.148A>G	c.(148-150)AGT>GGT	p.S50G		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	50	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					AGCTGAGGACTGACCTTGATT	0.433000												
LRRK2	120892	broad.mit.edu	37	12	40692056	40692056	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:40692056T>G	uc001rmg.3	+	24	3229	c.3108T>G	c.(3106-3108)AGT>AGG	p.S1036R	LRRK2_uc001rmh.1_Missense_Mutation_p.S658R|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1036	LRR 3.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTCTGAAGAGTTTGACACATT	0.333000												
C12orf66	144577	broad.mit.edu	37	12	64587772	64587772	+	Silent	SNP	G	G	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:64587772G>C	uc001srw.3	-	3	1247	c.1188C>G	c.(1186-1188)ACC>ACG	p.T396T	C12orf66_uc009zql.2_Silent_p.T343T	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	396										ovary(1)	1						GTTCCGGGCGGGTTAGGAAGT	0.448000												
PLBD2	196463	broad.mit.edu	37	12	113812717	113812717	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:113812717G>A	uc001tve.2	+	5	799	c.764G>A	c.(763-765)AGT>AAT	p.S255N	PLBD2_uc001tvf.2_Missense_Mutation_p.S255N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	255					lipid catabolic process	lysosomal lumen	hydrolase activity				0						CCTGGCCAGAGTGACCTCCTG	0.582000												
GCN1L1	10985	broad.mit.edu	37	12	120575538	120575538	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:120575538C>G	uc001txo.2	-	49	6487	c.6474G>C	c.(6472-6474)GAG>GAC	p.E2158D		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis	2158					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			ovary(4)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGCGGGTGGCCTCCAGCAGAT	0.572000												
RIMBP2	23504	broad.mit.edu	37	12	130898838	130898838	+	Silent	SNP	T	T	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr12:130898838T>C	uc001uil.2	-	14	2648	c.2484A>G	c.(2482-2484)CGA>CGG	p.R828R		NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	828						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AAAGGCGGTCTCGCCCGTAAT	0.572000												
C14orf145	145508	broad.mit.edu	37	14	81251532	81251532	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr14:81251532G>C	uc001xux.2	-	14	2089	c.1918C>G	c.(1918-1920)CTG>GTG	p.L640V	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	640	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		ATGGCACTCAGGTCCTTGATG	0.478000												
C15orf26	161502	broad.mit.edu	37	15	81428957	81428957	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr15:81428957G>A	uc002bgb.2	+	3	287	c.260G>A	c.(259-261)CGT>CAT	p.R87H	C15orf26_uc010blp.1_Missense_Mutation_p.R62H	NM_173528	NP_775799	Q6P656	CO026_HUMAN	hypothetical protein LOC161502	87											0						GTGTTTCTGCGTGGGGACCTG	0.473000												
RANBP10	57610	broad.mit.edu	37	16	67763622	67763622	+	Missense_Mutation	SNP	G	G	C	rs142221372		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr16:67763622G>C	uc002eud.2	-	9	1224	c.1108C>G	c.(1108-1110)CCC>GCC	p.P370A	RANBP10_uc010ceo.2_Missense_Mutation_p.P141A|RANBP10_uc010vju.1_Missense_Mutation_p.P314A|RANBP10_uc010vjv.1_Missense_Mutation_p.P253A|RANBP10_uc010vjw.1_Missense_Mutation_p.P31A	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	RAN binding protein 10	370	Ser-rich.									ovary(1)	1		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCATGTCGGGGACTGAGGCTG	0.602000												
WFIKKN2	124857	broad.mit.edu	37	17	48917788	48917788	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr17:48917788G>A	uc002isv.3	+	2	1833	c.1139G>A	c.(1138-1140)AGC>AAC	p.S380N	WFIKKN2_uc010dbu.2_Missense_Mutation_p.S287N	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	380						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GCCTGCATGAGCGGGCCGCTG	0.662000												
LAMA1	284217	broad.mit.edu	37	18	7080363	7080363	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr18:7080363A>T	uc002knm.2	-	2	249	c.155T>A	c.(154-156)CTT>CAT	p.L52H	LAMA1_uc010wzj.1_Translation_Start_Site	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	52	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTCCACAAGTTTGCAGAA	0.562000												
CEP192	55125	broad.mit.edu	37	18	13087566	13087566	+	Missense_Mutation	SNP	A	A	T	rs138701530		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr18:13087566A>T	uc010xac.1	+	32	5994	c.5914A>T	c.(5914-5916)ATC>TTC	p.I1972F	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.I1497F|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.I394F|CEP192_uc002krw.2_Missense_Mutation_p.I121F|CEP192_uc002krx.2_5'UTR|CEP192_uc002kry.2_5'Flank	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1972										ovary(4)|pancreas(1)	5						AGACAGAGGAATCAATAATAA	0.284000												
DOK6	220164	broad.mit.edu	37	18	67406320	67406320	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr18:67406320A>T	uc002lkl.2	+	6	909	c.719A>T	c.(718-720)GAA>GTA	p.E240V		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	docking protein 6	240							insulin receptor binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TTAATGCTAGAAATGGAACAG	0.458000												
ZNF714	148206	broad.mit.edu	37	19	21300801	21300801	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr19:21300801G>C	uc002npo.3	+	6	1694	c.1334G>C	c.(1333-1335)AGA>ACA	p.R445T	ZNF714_uc002npl.2_Missense_Mutation_p.R290T|ZNF714_uc010ecp.1_Missense_Mutation_p.R396T|ZNF714_uc002npn.2_RNA	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	445	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ACACATAAGAGAATTCACACT	0.368000												
PNMAL2	57469	broad.mit.edu	37	19	46997109	46997109	+	Silent	SNP	C	C	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr19:46997109C>T	uc002pes.2	-	1	2061	c.1614G>A	c.(1612-1614)GCG>GCA	p.A538A	uc002peu.1_5'Flank	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	538										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGGCCGTGCGCGCCCTCTTGG	0.761000												
RAD51AP2	729475	broad.mit.edu	37	2	17699573	17699573	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:17699573C>T	uc002rcl.1	-	1	134	c.110G>A	c.(109-111)TGT>TAT	p.C37Y	RAD51AP2_uc010exn.1_Missense_Mutation_p.C28Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	37										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTCCTCAAGACAGAGCCGCTT	0.612000												
DGUOK	1716	broad.mit.edu	37	2	74173903	74173903	+	Nonsense_Mutation	SNP	C	C	T	rs104893630		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:74173903C>T	uc002sjx.2	+	3	398	c.313C>T	c.(313-315)CGA>TGA	p.R105*	DGUOK_uc002sjy.2_Nonsense_Mutation_p.R105*|DGUOK_uc002sjz.2_RNA	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	deoxyguanosine kinase isoform a precursor	105					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor				0						GGAGCCAGCACGATGGTCCTA	0.478000												
ZAP70	7535	broad.mit.edu	37	2	98351812	98351812	+	Silent	SNP	C	C	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:98351812C>T	uc002syd.1	+	10	1389	c.1182C>T	c.(1180-1182)GAC>GAT	p.D394D	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Silent_p.D284D|ZAP70_uc002syf.1_Silent_p.D87D	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain associated protein kinase 70kDa	394	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						ACCAGCTGGACAACCCCTACA	0.632000												
OBFC2A	64859	broad.mit.edu	37	2	192543750	192543750	+	Silent	SNP	G	G	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:192543750G>C	uc002usx.2	+	2	606	c.126G>C	c.(124-126)GTG>GTC	p.V42V	OBFC2A_uc002usw.2_5'UTR|OBFC2A_uc002usy.2_RNA|OBFC2A_uc002usz.2_RNA|OBFC2A_uc002uta.2_5'UTR	NM_001031716	NP_001026886	Q96AH0	SOSB2_HUMAN	oligonucleotide/oligosaccharide-binding fold	42	OB.				double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			GCCATGAAGTGAGATCGTGCA	0.463000												
ERBB4	2066	broad.mit.edu	37	2	212566719	212566719	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:212566719G>A	uc002veg.1	-	12	1560	c.1462C>T	c.(1462-1464)CGG>TGG	p.R488W	ERBB4_uc002veh.1_Missense_Mutation_p.R488W|ERBB4_uc010zji.1_Missense_Mutation_p.R488W|ERBB4_uc010zjj.1_Missense_Mutation_p.R488W|ERBB4_uc010fut.1_Missense_Mutation_p.R488W	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	488	Extracellular (Potential).				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGTTGTCCCGGATTACTATT	0.343000										TSP Lung(8;0.080)		
SPHKAP	80309	broad.mit.edu	37	2	228882483	228882483	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr2:228882483T>A	uc002vpq.2	-	7	3134	c.3087A>T	c.(3085-3087)GAA>GAT	p.E1029D	SPHKAP_uc002vpp.2_Missense_Mutation_p.E1029D|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1029D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	1029						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGGACATCTTCAAGGTTCA	0.512000												
CLDN8	9073	broad.mit.edu	37	21	31587611	31587611	+	Silent	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr21:31587611G>A	uc002ynu.1	-	1	708	c.633C>T	c.(631-633)ACC>ACT	p.T211T		NM_199328	NP_955360	P56748	CLD8_HUMAN	claudin 8	211	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity				0						ACTTCTTTCCGGTGTGATAAC	0.403000												
RFPL2	10739	broad.mit.edu	37	22	32588982	32588982	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr22:32588982G>A	uc003amg.3	-	4	1399	c.463C>T	c.(463-465)CGG>TGG	p.R155W	RFPL2_uc003ame.3_Missense_Mutation_p.R94W|RFPL2_uc003amf.3_Missense_Mutation_p.R65W|RFPL2_uc003amh.3_Missense_Mutation_p.R65W	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	155							zinc ion binding			skin(1)	1						TCTAGCTGCCGATTGCGCCTG	0.517000												
KCNH8	131096	broad.mit.edu	37	3	19498281	19498281	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:19498281C>G	uc003cbk.1	+	11	2042	c.1847C>G	c.(1846-1848)GCA>GGA	p.A616G	KCNH8_uc010hex.1_Missense_Mutation_p.A77G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	616	cNMP.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TTAATTGGAGCAAATCTATCA	0.378000												
PHLDB2	90102	broad.mit.edu	37	3	111603422	111603422	+	Silent	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:111603422G>A	uc010hqa.2	+	2	909	c.498G>A	c.(496-498)GGG>GGA	p.G166G	PHLDB2_uc003dyc.2_Silent_p.G193G|PHLDB2_uc003dyd.2_Silent_p.G166G|PHLDB2_uc003dyg.2_Silent_p.G166G|PHLDB2_uc003dyh.2_Silent_p.G166G|PHLDB2_uc003dye.3_Silent_p.G166G|PHLDB2_uc003dyf.3_Silent_p.G166G	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	166						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						CTCTTGGAGGGCTGGAAGGTC	0.557000												
ZBTB38	253461	broad.mit.edu	37	3	141161650	141161650	+	Silent	SNP	A	A	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:141161650A>G	uc003etw.2	+	8	1402	c.420A>G	c.(418-420)GAA>GAG	p.E140E	ZBTB38_uc010hun.2_Silent_p.E137E|ZBTB38_uc010huo.2_Silent_p.E140E|ZBTB38_uc003ety.2_Silent_p.E140E|ZBTB38_uc010hup.2_Silent_p.E141E	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	140					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						GTATTACTGAAAAGGGAGTGG	0.418000												
AGTR1	185	broad.mit.edu	37	3	148459062	148459062	+	Silent	SNP	T	T	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:148459062T>G	uc003ewg.2	+	4	686	c.240T>G	c.(238-240)ACT>ACG	p.T80T	AGTR1_uc003ewh.2_Silent_p.T80T|AGTR1_uc003ewi.2_Silent_p.T80T|AGTR1_uc003ewj.2_Silent_p.T80T|AGTR1_uc003ewk.2_Silent_p.T80T	NM_031850	NP_114038	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	80	Helical; Name=2; (Potential).				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity				0			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTTTACTGACTTTGCCACTAT	0.433000												
SERPINI2	5276	broad.mit.edu	37	3	167189651	167189651	+	Translation_Start_Site	SNP	A	A	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr3:167189651A>C	uc003fer.1	-	1	30	c.-28T>G	c.(-30--26)ATTTT>ATGTT		SERPINI2_uc003fes.1_Intron|SERPINI2_uc003fet.1_Intron	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),						cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3						TTTAAATCAAAATATATTCAT	0.343000												
TLR6	10333	broad.mit.edu	37	4	38829331	38829331	+	Silent	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr4:38829331G>A	uc003gtm.2	-	1	1830	c.1764C>T	c.(1762-1764)ATC>ATT	p.I588I	TLR6_uc010ifg.1_Silent_p.I588I	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6 precursor	588	Helical; (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			ovary(2)	2						CGATGGTGACGATCAGCAGAG	0.493000												
PRDM9	56979	broad.mit.edu	37	5	23522495	23522495	+	Silent	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr5:23522495G>A	uc003jgo.2	+	7	773	c.591G>A	c.(589-591)CCG>CCA	p.P197P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	197					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6						TCAGCGAGCCGCAGGATGATG	0.443000										HNSCC(3;0.000094)		
OCLN	4950	broad.mit.edu	37	5	68809860	68809860	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr5:68809860A>G	uc003jwu.2	+	4	1251	c.815A>G	c.(814-816)GAC>GGC	p.D272G	OCLN_uc003jwv.3_Missense_Mutation_p.D272G	NM_002538	NP_002529			occludin												0		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGAAAGATGGACAGGTATGAC	0.393000												
PCDHA12	56137	broad.mit.edu	37	5	140257093	140257093	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr5:140257093C>T	uc003lic.2	+	1	2163	c.2036C>T	c.(2035-2037)TCG>TTG	p.S679L	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.S679L	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	679	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)			CCAAAGACGTCGTCGCGGGCC	0.657000												
NQO2	4835	broad.mit.edu	37	6	3017158	3017158	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:3017158C>G	uc003mus.2	+	6	796	c.458C>G	c.(457-459)GCC>GGC	p.A153G	NQO2_uc003mut.2_Missense_Mutation_p.A153G	NM_000904	NP_000895	P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	153						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			ovary(1)	1	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	GGAGGCACGGCCGAGATGTAC	0.527000												
LRRC1	55227	broad.mit.edu	37	6	53764636	53764636	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:53764636T>A	uc003pcd.1	+	8	1011	c.734T>A	c.(733-735)TTA>TAA	p.L245*		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	245	LRR 11.					cytoplasm|membrane				ovary(1)	1	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGACTTCATTAACGGATTTA	0.403000												
FAM46A	55603	broad.mit.edu	37	6	82461589	82461589	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:82461589G>T	uc003pjg.2	-	2	588	c.270C>A	c.(268-270)TTC>TTA	p.F90L	FAM46A_uc003pjf.2_Missense_Mutation_p.F109L|FAM46A_uc003pjh.1_Missense_Mutation_p.F90L	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN	hypothetical protein LOC55603	90											0		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CGAGCGTGGGGAAGTTGCCGC	0.667000												
MIOS	54468	broad.mit.edu	37	7	7612723	7612723	+	Missense_Mutation	SNP	G	G	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:7612723G>C	uc003srf.2	+	4	925	c.617G>C	c.(616-618)CGT>CCT	p.R206P	MIOS_uc010ktp.1_Missense_Mutation_p.R206P	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	206	WD 3.										0						GGTATGCATCGTAACCTAGCT	0.413000												
WBSCR17	64409	broad.mit.edu	37	7	70800605	70800605	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:70800605T>C	uc003tvy.2	+	2	308	c.308T>C	c.(307-309)CTT>CCT	p.L103P	WBSCR17_uc003tvz.2_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	103	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCTACTCTTTCCCCGGCT	0.463000												
CFTR	1080	broad.mit.edu	37	7	117267653	117267653	+	Silent	SNP	C	C	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:117267653C>T	uc003vjd.2	+	22	3678	c.3546C>T	c.(3544-3546)TAC>TAT	p.Y1182Y	CFTR_uc011knq.1_Silent_p.Y588Y	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	1182	Cytoplasmic (Potential).				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CCAAACCATACAAGAATGGCC	0.403000									Cystic_Fibrosis			
CNTNAP2	26047	broad.mit.edu	37	7	146536859	146536859	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:146536859T>G	uc003weu.1	+	3	781	c.265T>G	c.(265-267)TTT>GTT	p.F89V		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	89	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGGTTGACTTTGGCAATCG	0.488000										HNSCC(39;0.1)		
ERLIN2	11160	broad.mit.edu	37	8	37611483	37611483	+	Silent	SNP	T	T	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr8:37611483T>A	uc003xke.3	+	12	985	c.870T>A	c.(868-870)GCT>GCA	p.A290A		NM_007175	NP_009106	O94905	ERLN2_HUMAN	ER lipid raft associated 2 isoform 1	290	Interaction with ERLIN1.|Lumenal (Potential).				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding				0		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AGGCCATTGCTTCCAACAGCA	0.418000												
LAMC3	10319	broad.mit.edu	37	9	133901754	133901754	+	Silent	SNP	C	C	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr9:133901754C>T	uc004caa.1	+	2	554	c.456C>T	c.(454-456)CGC>CGT	p.R152R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	152	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGCGCAGCCGCGCCGACGGCC	0.642000												
MAGEB1	4112	broad.mit.edu	37	X	30269583	30269583	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chrX:30269583C>T	uc004dcc.2	+	4	1293	c.973C>T	c.(973-975)CGT>TGT	p.R325C	MAGEB1_uc004dcd.2_Missense_Mutation_p.R325C|MAGEB1_uc004dce.2_Missense_Mutation_p.R325C	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325											0						TAGAGCCAGGCGTCGCACTAC	0.527000												
WAS	7454	broad.mit.edu	37	X	48544341	48544341	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chrX:48544341G>A	uc004dkm.3	+	5	527	c.470G>A	c.(469-471)CGC>CAC	p.R157H		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	157					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)				ACAGACAGACGCCAGCTACCC	0.567000			Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome			
MRVI1	10335	broad.mit.edu	37	11	10650316	10650316	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr11:10650316delT	uc010rcc.1	-	6	1020	c.634delA	c.(634-636)ACAfs	p.T212fs	MRVI1_uc001miw.2_Frame_Shift_Del_p.T203fs|MRVI1_uc010rcb.1_Frame_Shift_Del_p.T203fs|MRVI1_uc009ygb.1_5'UTR|MRVI1_uc001mix.2_5'UTR|MRVI1_uc001miz.2_Frame_Shift_Del_p.T121fs|MRVI1_uc009ygc.1_Frame_Shift_Del_p.T121fs|MRVI1_uc010rcd.1_Frame_Shift_Del_p.T212fs|MRVI1_uc009ygd.1_5'UTR|MRVI1_uc010rce.1_RNA	NM_001100167	NP_001093637	Q9Y6F6	MRVI1_HUMAN	JAW1-related protein isoform c	203					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GTGGGGACTGTAAGTGAGTTG	0.607												
CAV2	858	broad.mit.edu	37	7	116140362	116140365	+	Frame_Shift_Del	DEL	GACA	GACA	-			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr7:116140362_116140365delGACA	uc003vid.2	+	2	591_594	c.199_202delGACA	c.(199-204)GACAAAfs	p.D67fs	CAV2_uc003vhv.2_Intron|CAV2_uc003vhw.2_Intron|CAV2_uc003vhx.2_Intron|CAV2_uc010lkb.1_Intron|CAV2_uc010lkc.2_RNA|CAV2_uc003vib.2_Intron|CAV2_uc003vhz.2_RNA|CAV2_uc003via.2_RNA|CAV1_uc010lkd.1_Intron|CAV1_uc010lke.1_Intron|CAV2_uc003vie.2_Intron	NM_001233	NP_001224	P51636	CAV2_HUMAN	caveolin 2 isoform a and b	67_68	Cytoplasmic (Potential).				caveola assembly|endoplasmic reticulum organization|mitochondrion organization|negative regulation of endothelial cell proliferation|positive regulation of dopamine receptor signaling pathway|regulation of mitosis|skeletal muscle fiber development|vesicle docking|vesicle fusion	caveola|extrinsic to internal side of plasma membrane|Golgi membrane|integral to plasma membrane|membrane fraction|nucleus|perinuclear region of cytoplasm|transport vesicle	D1 dopamine receptor binding|protein homodimerization activity				0	all_epithelial(6;1.53e-06)|Lung NSC(10;0.00592)|all_lung(10;0.00642)		STAD - Stomach adenocarcinoma(10;0.00878)			GCACTCCTTTGACAAAGTGTGGAT	0.569												
OBSCN	84033	broad.mit.edu	37	1	228430943	228430944	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr1:228430942_228430943A>AG	uc009xez.1	+	9	3032_3033	c.2988_2989A>AG	c.(2986-2991)gcagggfs	p.A996fs	OBSCN_uc001hsn.3_Frame_Shift_Ins_p.A996fs	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	996	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGGCAGGGGCCAGTGC	0.589												
SYNCRIP	10492	broad.mit.edu	37	6	86328634	86328635	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr6:86328633_86328634C>CT	uc003pla.2	-	9	1723_1724	c.1182_1183G>AG	c.(1180-1185)aaagacfs	p.K394fs	SYNCRIP_uc003pku.3_Frame_Shift_Ins_p.K394fs|SYNCRIP_uc003pkv.3_Frame_Shift_Ins_p.K394fs|SYNCRIP_uc003pkw.3_Frame_Shift_Ins_p.K359fs|SYNCRIP_uc003pkx.3_Frame_Shift_Ins_p.K242fs|SYNCRIP_uc003pky.3_Frame_Shift_Ins_p.K296fs|SYNCRIP_uc003pkz.2_Frame_Shift_Ins_p.K359fs	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	394	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCCTCCAAGTCTTTGCCATTCA	0.312												
NEIL1	79661	broad.mit.edu	37	15	75641581	75641582	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr15:75641580_75641581CTA>C	uc002bae.3	+	1	745_746	c.592_593CTA>C	c.(592-594)ctafs	p.L198fs	NEIL1_uc002bad.3_Frame_Shift_Del_p.L112fs	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	112					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						CCGGCTCGCCCTATGTTTCGTG	0.683								Base excision repair (BER), DNA glycosylases				
TP53	7157	broad.mit.edu	37	17	7577554	7577562	+	In_Frame_Del	DEL	TGCAGGAAC	TGCAGGAAC	-	rs121912655		TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr17:7577553_7577561ATGCAGGAAC>A	uc002gim.2	-	6	914_922	c.720_728GTTCCTGCAT>T	c.(718-729)agttcctgcatg>agTg	p.SCM241del	TP53_uc002gig.1_In_Frame_Del_p.SCM241del|TP53_uc002gih.3_In_Frame_Del_p.SCM241del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.SCM109del|TP53_uc010cnf.1_In_Frame_Del_p.SCM109del|TP53_uc002gii.1_In_Frame_Del_p.SCM109del|TP53_uc010cni.1_In_Frame_Del_p.SCM241del|TP53_uc010cnh.1_In_Frame_Del_p.SCM241del|TP53_uc002gij.2_In_Frame_Del_p.SCM241del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.SCM148del|TP53_uc002gio.2_In_Frame_Del_p.SCM109del|DL476309_uc021tpg.1_5'UTR|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|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|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.C242F(156)|p.C242Y(85)|p.C242S(53)|p.S241C(50)|p.C242fs*5(32)|p.C242R(24)|p.M243L(20)|p.S241fs*6(18)|p.S241A(17)|p.S240R(16)|p.S241Y(16)|p.S240G(14)|p.C242W(14)|p.S241T(14)|p.S241del(10)|p.M243T(10)|p.0?(8)|p.M243I(7)|p.N239_C242delNSSC(6)|p.S241P(6)|p.M243V(6)|p.C242*(6)|p.S241S(6)|p.C149F(6)|p.S240I(6)|p.?(5)|p.S148F(4)|p.S240S(4)|p.C242C(4)|p.C242G(4)|p.M243R(4)|p.M243K(4)|p.N239_S240delNS(4)|p.S241fs*22(4)|p.S240C(3)|p.C242fs*20(2)|p.C242fs*23(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.S240>CSC(2)|p.C238_M246delCNSSCMGGM(2)|p.S240P(2)|p.S241_C242insX(2)|p.S240T(2)|p.M243fs*4(2)|p.C242fs*98(2)|p.S240fs*7(2)|p.M243fs*18(2)|p.S241fs*7(2)|p.C149Y(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240insX(2)|p.S241fs*23(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.S148T(1)|p.M243_G244>IC(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.S240fs*26(1)|p.S148C(1)|p.N239_S240insN(1)|p.S240fs*23(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		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)		CATGCCGCCCATGCAGGAACTGTTACACA	0.579		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	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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)		
BZRAP1	9256	broad.mit.edu	37	17	56386384	56386385	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr17:56386383_56386384C>CT	uc002ivx.4	-	21	5120_5121	c.4249_4250G>AG	c.(4249-4251)agcfs	p.S1417fs	BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1417						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGCCTGCGGCTTGGGGGCTTC	0.653												
MUC16	94025	broad.mit.edu	37	19	9045953	9045954	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr19:9045952_9045953CAG>C	uc002mkp.3	-	4	35882_35883	c.35678_35679CTG>G	c.(35677-35679)ctgfs	p.L11893fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11895	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAAACAGTCAGAGTTAGAGT	0.480												
KDELR3	11015	broad.mit.edu	37	22	38877230	38877233	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs142887079	byFrequency	TCGA-BR-8295-01A-11D-2340-08	TCGA-BR-8295-10A-01D-2340-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6bcaea6-ed22-4d55-9dc5-287205bea705	bf645fb4-90f8-4f80-93d4-59f6b049116a	g.chr22:38877229_38877232TTCTC>T	uc003avu.3	+	3	520_523	c.364_367TTCTC>T	c.(364-369)ttctctfs	p.F122fs	KDELR3_uc003avv.3_Frame_Shift_Del_p.F122fs	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	122					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTCTGGACTTTCTCTATCTATCT	0.451