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
GPR153	387509	broad.mit.edu	37	1	6314867	6314867	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:6314867G>A	uc001amp.1	-	2	359	c.99C>T	c.(97-99)GGC>GGT	p.G33G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	33	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		TCTGCTTGGCGCCAACGCTGA	0.637000												
CLCN6	1185	broad.mit.edu	37	1	11888593	11888593	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:11888593G>A	uc001ate.3	+	12	1146	c.1033G>A	c.(1033-1035)GGC>AGC	p.G345S	CLCN6_uc009vnh.1_Intron|CLCN6_uc010oat.1_Missense_Mutation_p.G61S|CLCN6_uc010oau.1_Missense_Mutation_p.G323S	NM_001286	NP_001277	P51797	CLCN6_HUMAN	chloride channel 6 isoform ClC-6a	345	Helical; (By similarity).				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATTGGGGGCCTCCTGGG	0.507000												
NPPB	4879	broad.mit.edu	37	1	11918406	11918406	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:11918406C>T	uc001atj.2	-	2	355	c.253G>A	c.(253-255)GAG>AAG	p.E85K		NM_002521	NP_002512	P16860	ANFB_HUMAN	natriuretic peptide precursor B preproprotein	85					body fluid secretion|cGMP biosynthetic process|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	extracellular space	diuretic hormone activity			ovary(2)	2	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;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Carvedilol(DB01136)|Nesiritide(DB04899)|Testosterone(DB00624)	CGGATGCCCTCGGTGGCTACC	0.642000												
SNRNP40	9410	broad.mit.edu	37	1	31764770	31764770	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:31764770T>C	uc001bso.2	-	3	401	c.355A>G	c.(355-357)ACA>GCA	p.T119A	SNRNP40_uc010oge.1_Missense_Mutation_p.T119A	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	WD repeat domain 57 (U5 snRNP specific)	119	WD 2.					catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding				0						CTGCCATCTGTGTTGTAATGC	0.458000												
LEPR	3953	broad.mit.edu	37	1	66101896	66101896	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:66101896T>C	uc001dci.2	+	20	2898	c.2696T>C	c.(2695-2697)TTT>TCT	p.F899S	LEPR_uc009waq.2_Silent_p.L173L	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	899	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAGCATCTTTTTATCAAGCAT	0.333000												
PTGFR	5737	broad.mit.edu	37	1	78958507	78958507	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:78958507C>T	uc001din.2	+	2	345	c.79C>T	c.(79-81)CGG>TGG	p.R27W	PTGFR_uc001dim.2_Missense_Mutation_p.R27W	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	27	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GACGGAAAACCGGCTTTCCGT	0.438000												
S100A9	6280	broad.mit.edu	37	1	153333228	153333228	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:153333228A>C	uc001fbq.2	+	3	302	c.259A>C	c.(259-261)ACC>CCC	p.T87P		NM_002965	NP_002956	P06702	S10A9_HUMAN	S100 calcium-binding protein A9	87	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity				0	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCGAGGCTAACCTGGGCCTC	0.572000												
APOA1BP	128240	broad.mit.edu	37	1	156563293	156563293	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:156563293C>T	uc001fph.2	+	5	649	c.610C>T	c.(610-612)CTG>TTG	p.L204L	APOA1BP_uc001fpg.2_Silent_p.L204L|APOA1BP_uc001fpi.2_Missense_Mutation_p.P185L|APOA1BP_uc001fpj.2_Silent_p.L121L|APOA1BP_uc001fpk.2_Silent_p.L101L|APOA1BP_uc010php.1_Silent_p.L101L	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	204	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCACAGCATCCTGAGTGTCCT	0.572000												
FAM20B	9917	broad.mit.edu	37	1	179033214	179033214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:179033214C>T	uc001gmc.2	+	5	1020	c.727C>T	c.(727-729)CGA>TGA	p.R243*		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor	243	Lumenal (Potential).					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3						CAGGACTTACCGAGAAGGCAA	0.522000												
CENPF	1063	broad.mit.edu	37	1	214818634	214818634	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:214818634C>T	uc001hkm.2	+	13	5895	c.5721C>T	c.(5719-5721)ATC>ATT	p.I1907I		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	2003	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGTAGGATCAGATCGGAGA	0.418000												
URB2	9816	broad.mit.edu	37	1	229771163	229771163	+	Missense_Mutation	SNP	C	C	T	rs114879838	by1000genomes	TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:229771163C>T	uc001hts.1	+	4	939	c.803C>T	c.(802-804)ACG>ATG	p.T268M	URB2_uc009xfd.1_Missense_Mutation_p.T268M	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	268						nucleolus				central_nervous_system(2)|ovary(1)	3						GATGTGAAGACGGGAGCCATG	0.547000												
NID1	4811	broad.mit.edu	37	1	236175230	236175230	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:236175230C>T	uc001hxo.2	-	12	2620	c.2518G>A	c.(2518-2520)GTG>ATG	p.V840M	NID1_uc009xgd.2_Intron|NID1_uc009xgc.2_Translation_Start_Site	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	840	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCTCCGGGCACGCAACGGAAG	0.582000												
EXO1	9156	broad.mit.edu	37	1	242021853	242021853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:242021853C>T	uc001hzh.2	+	8	1129	c.589C>T	c.(589-591)CAA>TAA	p.Q197*	EXO1_uc001hzi.2_Nonsense_Mutation_p.Q197*|EXO1_uc001hzj.2_Nonsense_Mutation_p.Q197*|EXO1_uc009xgq.2_Nonsense_Mutation_p.Q197*	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	197	I-domain.|Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGAAATTGATCAAGCTCGGCT	0.398000								Direct_reversal_of_damage|Editing_and_processing_nucleases				
RBP3	5949	broad.mit.edu	37	10	48388253	48388253	+	Silent	SNP	G	G	A	rs142862418		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr10:48388253G>A	uc001jez.2	-	1	2739	c.2625C>T	c.(2623-2625)GGC>GGT	p.G875G		NM_002900	NP_002891	P10745	RET3_HUMAN	retinol-binding protein 3 precursor	875	4 X approximate tandem repeats.|3.				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)	CAGAGAGTGCGCCTCCGGCCG	0.652000												
CTNNA3	29119	broad.mit.edu	37	10	68940162	68940162	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr10:68940162C>T	uc009xpn.1	-	7	1083	c.960G>A	c.(958-960)ACG>ACA	p.T320T	CTNNA3_uc001jmw.2_Silent_p.T320T|CTNNA3_uc001jmx.3_Silent_p.T320T|CTNNA3_uc009xpo.1_Silent_p.T180T|CTNNA3_uc001jna.2_Silent_p.T332T	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	320					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						GTAAGTCCCTCGTACATGAAG	0.502000												
MUC5B	727897	broad.mit.edu	37	11	1271245	1271245	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:1271245A>C	uc009ycr.1	+	51	14680	c.14554A>C	c.(14554-14556)ACG>CCG	p.T4852P	MUC5B_uc001ltb.2_Missense_Mutation_p.T4382P	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4379	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCAGTTCCACGTCCACCCC	0.657000												
OR52K1	390036	broad.mit.edu	37	11	4511022	4511022	+	Missense_Mutation	SNP	A	A	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:4511022A>T	uc001lza.1	+	1	892	c.892A>T	c.(892-894)ACC>TCC	p.T298S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGAGTCAAGACCAAGCAGAT	0.448000												
OR56B1	387748	broad.mit.edu	37	11	5758490	5758490	+	Missense_Mutation	SNP	C	C	A	rs144847345		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:5758490C>A	uc001mbt.1	+	1	744	c.744C>A	c.(742-744)AGC>AGA	p.S248R	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		AGGCCCTGAGCACTTGTAGTT	0.408000												
MRGPRX2	117194	broad.mit.edu	37	11	19077528	19077528	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:19077528C>T	uc001mph.2	-	2	510	c.422G>A	c.(421-423)CGC>CAC	p.R141H		NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	141	Cytoplasmic (Potential).				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			ovary(1)	1						GTGTCTGGGGCGGCGGCAGCG	0.602000												
RAG1	5896	broad.mit.edu	37	11	36597806	36597806	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:36597806C>G	uc001mwu.3	+	2	3076	c.2952C>G	c.(2950-2952)TGC>TGG	p.C984W	RAG1_uc001mwt.2_Intron	NM_000448	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	984					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)				AGTCCAAATGCTATGAGATGG	0.453000									Familial_Hemophagocytic_Lymphohistiocytosis			
OR5B2	390190	broad.mit.edu	37	11	58189993	58189993	+	Missense_Mutation	SNP	C	C	T	rs140238243		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:58189993C>T	uc010rkg.1	-	1	742	c.742G>A	c.(742-744)GTC>ATC	p.V248I		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	248	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248I(1)		ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCATAGAAGACGGAGACTGCA	0.468000												
LPXN	9404	broad.mit.edu	37	11	58318648	58318648	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:58318648C>A	uc001nmw.2	-	5	521	c.376G>T	c.(376-378)GCC>TCC	p.A126S	LPXN_uc009ymp.2_5'UTR|LPXN_uc010rkj.1_Missense_Mutation_p.A131S|LPXN_uc010rkk.1_Missense_Mutation_p.A106S|LPXN_uc010rkl.1_RNA	NM_004811	NP_004802	O60711	LPXN_HUMAN	leupaxin isoform 2	126					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCCAGGGAGGCCTTGTGATCC	0.537000												
RASGRP2	10235	broad.mit.edu	37	11	64503430	64503430	+	Missense_Mutation	SNP	G	G	A	rs139499587		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:64503430G>A	uc009ypu.2	-	10	1345	c.1118C>T	c.(1117-1119)ACG>ATG	p.T373M	RASGRP2_uc001oat.2_Missense_Mutation_p.T275M|RASGRP2_uc001oau.2_Missense_Mutation_p.T228M|RASGRP2_uc009ypv.2_Missense_Mutation_p.T373M|RASGRP2_uc009ypw.2_Missense_Mutation_p.T373M	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	373	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0						CTCATCCTCCGTCTGATACTG	0.627000												
GRIA4	2893	broad.mit.edu	37	11	105795326	105795326	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:105795326G>A	uc001pix.2	+	12	2124	c.1678G>A	c.(1678-1680)GTG>ATG	p.V560M	GRIA4_uc001piw.2_Missense_Mutation_p.V560M	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	560	Helical; (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	TGGTGTCAGCGTGGTCTTATT	0.473000												
SRPR	6734	broad.mit.edu	37	11	126137202	126137202	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr11:126137202C>T	uc001qdh.2	-	4	445	c.394G>A	c.(394-396)GCT>ACT	p.A132T	SRPR_uc010sbm.1_Missense_Mutation_p.A104T|FOXRED1_uc001qdi.2_5'Flank|FOXRED1_uc010sbn.1_5'Flank|FOXRED1_uc010sbo.1_5'Flank|FOXRED1_uc010sbp.1_5'Flank|FOXRED1_uc010sbq.1_5'Flank|FOXRED1_uc001qdj.2_5'Flank|FOXRED1_uc010sbr.1_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	signal recognition particle receptor	132					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding				0	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GTAGTGGGAGCACGGATCTTA	0.438000												
CCND2	894	broad.mit.edu	37	12	4388038	4388038	+	Missense_Mutation	SNP	C	C	T	rs143681287		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:4388038C>T	uc001qmo.2	+	3	829	c.524C>T	c.(523-525)TCT>TTT	p.S175F		NM_001759	NP_001750	P30279	CCND2_HUMAN	cyclin D2	175					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1)	3			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GAGAAGCTGTCTCTGATCCGC	0.572000			T	IGL@	NHL,CLL							
KRT72	140807	broad.mit.edu	37	12	52981611	52981611	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:52981611C>T	uc001sar.2	-	7	1200	c.1114G>A	c.(1114-1116)GCC>ACC	p.A372T	KRT72_uc001saq.2_Missense_Mutation_p.A372T|KRT72_uc010sns.1_Missense_Mutation_p.A330T|KRT72_uc010snt.1_Missense_Mutation_p.A184T	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	372	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCAGCGTCGGCGATGGCCGTC	0.622000												
OR6C2	341416	broad.mit.edu	37	12	55846401	55846401	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:55846401A>G	uc001sgz.1	+	1	404	c.404A>G	c.(403-405)AAC>AGC	p.N135S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C,	135	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2						GTCATCATGAACAACAGGGTG	0.458000												
E2F7	144455	broad.mit.edu	37	12	77449854	77449854	+	Silent	SNP	T	T	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:77449854T>C	uc001sym.3	-	3	386	c.150A>G	c.(148-150)GAA>GAG	p.E50E	E2F7_uc001syn.2_Silent_p.E50E	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	50					cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						AATCAATTGGTTCATTTTTTA	0.363000												
PLBD2	196463	broad.mit.edu	37	12	113821937	113821937	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr12:113821937A>T	uc001tve.2	+	7	1020	c.985A>T	c.(985-987)AAG>TAG	p.K329*	PLBD2_uc001tvf.2_Nonsense_Mutation_p.K329*	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2 isoform 1	329					lipid catabolic process	lysosomal lumen	hydrolase activity				0						CATTGGCAACAAGAACCCAGC	0.612000												
STARD13	90627	broad.mit.edu	37	13	33741704	33741704	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr13:33741704G>A	uc001uuw.2	-	2	351	c.225C>T	c.(223-225)TAC>TAT	p.Y75Y	STARD13_uc001uuu.2_Silent_p.Y67Y|STARD13_uc001uuv.2_Translation_Start_Site|STARD13_uc001uux.2_Silent_p.Y40Y|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Silent_p.Y60Y	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	75	SAM.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		ATAACTGAGCGTATTGCGGGA	0.473000												
SLITRK6	84189	broad.mit.edu	37	13	86368299	86368299	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr13:86368299A>G	uc001vll.1	-	2	2804	c.2345T>C	c.(2344-2346)CTC>CCC	p.L782P	SLITRK6_uc010afe.1_Missense_Mutation_p.L235P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	782	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCAGGCTGGAGCTGAGCAAT	0.423000												
RTN1	6252	broad.mit.edu	37	14	60063484	60063484	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr14:60063484G>A	uc001xen.1	-	9	2519	c.2310C>T	c.(2308-2310)GGC>GGT	p.G770G	RTN1_uc001xem.1_Silent_p.G350G|RTN1_uc001xek.1_Silent_p.G202G|RTN1_uc001xel.1_RNA|RTN1_uc010apl.1_Silent_p.G187G	NM_021136	NP_066959	Q16799	RTN1_HUMAN	reticulon 1 isoform A	770	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)		GCCTCTTAGCGCCTGGGATTT	0.393000												
TTLL5	23093	broad.mit.edu	37	14	76149995	76149995	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr14:76149995C>G	uc001xrx.2	+	5	572	c.367C>G	c.(367-369)CCC>GCC	p.P123A	TTLL5_uc001xrw.1_Missense_Mutation_p.P123A|TTLL5_uc010ask.1_Missense_Mutation_p.P123A|TTLL5_uc001xrv.2_Missense_Mutation_p.P123A	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	123	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)		TAATCACTTTCCCAGGTAATG	0.423000												
CATSPERB	79820	broad.mit.edu	37	14	92195816	92195816	+	Missense_Mutation	SNP	G	G	A	rs142347440	byFrequency	TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr14:92195816G>A	uc001xzs.1	-	2	148	c.8C>T	c.(7-9)TCG>TTG	p.S3L		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	3					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TATAAGTGGCGATTCCATCTG	0.264000												
CCPG1	9236	broad.mit.edu	37	15	55742448	55742448	+	Translation_Start_Site	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr15:55742448C>T	uc002acy.2	-	5	1010	c.-407G>A	c.(-409--405)TCGTG>TCATG		DYX1C1_uc010ugh.1_RNA|DYX1C1_uc010ugi.1_RNA|DYX1C1_uc002adb.2_Missense_Mutation_p.R252H|DYX1C1_uc002adc.2_Missense_Mutation_p.R252H|DYX1C1_uc002add.2_Missense_Mutation_p.R252H	NM_020739	NP_065790	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1 isoform 2						cell cycle	integral to membrane				ovary(1)	1				all cancers(107;0.0354)		TTGTGATTCACGAAGAGCTGT	0.343000												
SGK269	79834	broad.mit.edu	37	15	77472426	77472426	+	Missense_Mutation	SNP	T	T	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr15:77472426T>C	uc002bcm.2	-	3	2151	c.1843A>G	c.(1843-1845)ACT>GCT	p.T615A	SGK269_uc002bcn.2_Missense_Mutation_p.T615A	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	615					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)		CGAGCATAAGTTGGCTCGTCA	0.348000												
AXIN1	8312	broad.mit.edu	37	16	354351	354351	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:354351G>A	uc002cgp.1	-	5	1384	c.1207C>T	c.(1207-1209)CGG>TGG	p.R403W	AXIN1_uc002cgq.1_Missense_Mutation_p.R403W	NM_003502	NP_003493	O15169	AXIN1_HUMAN	axin 1 isoform a	403	Interaction with GSK3B (By similarity).				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			breast(1)|liver(1)	2		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCGGCCTCCCGCGTGCGCTGC	0.687000												
TELO2	9894	broad.mit.edu	37	16	1552705	1552705	+	Silent	SNP	A	A	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:1552705A>T	uc002cly.2	+	14	2004	c.1713A>T	c.(1711-1713)GGA>GGT	p.G571G		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	571						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)				GTGTGGTGGGATTTGCAGGGC	0.672000												
CIITA	4261	broad.mit.edu	37	16	11001727	11001727	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:11001727T>A	uc002dai.3	+	11	2511	c.2378T>A	c.(2377-2379)CTG>CAG	p.L793Q	CIITA_uc002daj.3_Missense_Mutation_p.L794Q|CIITA_uc002dak.3_Intron|CIITA_uc002dag.2_Missense_Mutation_p.L793Q|CIITA_uc002dah.2_Missense_Mutation_p.L745Q|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	793					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						GCGAGGTACCTGAAGCGGCTG	0.692000			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|							
GPT2	84706	broad.mit.edu	37	16	46960947	46960947	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:46960947C>T	uc002eel.2	+	11	1573	c.1479C>T	c.(1477-1479)TTC>TTT	p.F493F	GPT2_uc002eem.2_Silent_p.F393F|GPT2_uc002een.2_Silent_p.F136F	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase 2 isoform 1	493					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|skin(1)	2		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTTACCACTTCAGGTATGACT	0.552000												
PLCG2	5336	broad.mit.edu	37	16	81944245	81944245	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr16:81944245C>T	uc002fgt.2	+	18	2006	c.1854C>T	c.(1852-1854)CGC>CGT	p.R618R	PLCG2_uc010chg.1_Silent_p.R618R	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	618	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						AGCACTACCGCGAGACGCACC	0.627000												
TOM1L2	146691	broad.mit.edu	37	17	17787971	17787971	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:17787971A>C	uc002grz.3	-	5	635	c.478T>G	c.(478-480)TCT>GCT	p.S160A	TOM1L2_uc002gry.3_Missense_Mutation_p.S110A|TOM1L2_uc010vwy.1_Missense_Mutation_p.S160A|TOM1L2_uc010cpr.2_Intron|TOM1L2_uc010vwz.1_Intron|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc010vxb.1_Missense_Mutation_p.S110A	NM_001082968	NP_001076437	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 isoform 3	160					intracellular protein transport	intracellular					0	all_neural(463;0.228)					TGTATGGGAGACAGAGCGTCC	0.542000												
MYO15A	51168	broad.mit.edu	37	17	18023036	18023036	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:18023036G>A	uc010vxh.1	+	2	1260	c.922G>A	c.(922-924)GGC>AGC	p.G308S		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	308	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.G308D(1)		skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)					CTACGGCTACGGCTACGACGA	0.617000												
KCNJ12	3768	broad.mit.edu	37	17	21318662	21318662	+	Missense_Mutation	SNP	C	C	T	rs143653481	byFrequency	TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:21318662C>T	uc002gyv.1	+	3	713	c.8C>T	c.(7-9)GCG>GTG	p.A3V		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	3	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)	GGGATGACCGCGGCCAGCCGG	0.692000										Prostate(3;0.18)		
FZD2	2535	broad.mit.edu	37	17	42636454	42636454	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:42636454C>T	uc002igx.1	+	1	1530	c.1398C>T	c.(1396-1398)TCC>TCT	p.S466S		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	466	Helical; Name=6; (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGTCTTCTCCGTGCTCTACA	0.627000												
C17orf104	284071	broad.mit.edu	37	17	42744852	42744852	+	Missense_Mutation	SNP	T	T	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:42744852T>G	uc010czv.2	+	5	1573	c.1573T>G	c.(1573-1575)TTA>GTA	p.L525V	C17orf104_uc002igy.1_Missense_Mutation_p.L359V|C17orf104_uc002igz.3_Missense_Mutation_p.L359V|C17orf104_uc010wja.1_RNA|C17orf104_uc002iha.2_Missense_Mutation_p.L359V	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	hypothetical protein LOC284071	525										central_nervous_system(1)	1						ATCCACAAACTTAACCCCAAA	0.338000												
MARCH10	162333	broad.mit.edu	37	17	60813998	60813998	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:60813998G>T	uc010ddr.2	-	6	1469	c.1231C>A	c.(1231-1233)CAA>AAA	p.Q411K	MARCH10_uc002jag.3_Missense_Mutation_p.Q411K|MARCH10_uc010dds.2_Missense_Mutation_p.Q449K|MARCH10_uc002jah.2_Missense_Mutation_p.Q410K|uc002jaj.1_RNA|uc002jak.2_RNA	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	411							ligase activity|zinc ion binding				0						CCAACCTCTTGTCTGGGCTCG	0.478000												
KCNJ2	3759	broad.mit.edu	37	17	68172062	68172062	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:68172062C>T	uc010dfg.2	+	2	1283	c.882C>T	c.(880-882)ATC>ATT	p.I294I	KCNJ2_uc002jir.2_Silent_p.I294I	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	294	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)					ACTTTGAAATCGTGGTCATAC	0.453000												
EPB41L3	23136	broad.mit.edu	37	18	5397408	5397408	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:5397408C>T	uc002kmt.1	-	18	2576	c.2490G>A	c.(2488-2490)ACG>ACA	p.T830T	EPB41L3_uc010wzh.1_Silent_p.T661T|EPB41L3_uc002kmu.1_Silent_p.T608T|EPB41L3_uc010dkq.1_Silent_p.T499T|EPB41L3_uc002kms.1_Silent_p.T65T|EPB41L3_uc010wze.1_Silent_p.T135T|EPB41L3_uc010wzf.1_Silent_p.T127T|EPB41L3_uc010wzg.1_Silent_p.T102T|EPB41L3_uc010dkr.2_Silent_p.T222T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	830	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CACTGGACTCCGTCTTGGTTT	0.537000												
ANKRD12	23253	broad.mit.edu	37	18	9258528	9258528	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:9258528A>G	uc002knv.2	+	9	5520	c.5263A>G	c.(5263-5265)ACA>GCA	p.T1755A	ANKRD12_uc002knw.2_Missense_Mutation_p.T1732A|ANKRD12_uc002knx.2_Missense_Mutation_p.T1732A|ANKRD12_uc010dkx.1_Missense_Mutation_p.T1462A	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12 isoform 1	1755						nucleus				ovary(2)|central_nervous_system(1)	3						TGCTAGCTGTACACTATTATC	0.368000												
KLHL14	57565	broad.mit.edu	37	18	30350466	30350466	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:30350466T>A	uc002kxm.1	-	2	477	c.89A>T	c.(88-90)CAG>CTG	p.Q30L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	30						cytosol|endoplasmic reticulum membrane				ovary(1)	1						GCAAAACAGCTGCTTCCTCCA	0.632000												
CDH20	28316	broad.mit.edu	37	18	59166663	59166663	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr18:59166663A>C	uc010dps.1	+	2	503	c.491A>C	c.(490-492)AAG>ACG	p.K164T	CDH20_uc002lif.2_Missense_Mutation_p.K158T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	164	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)				AATGAGCCCAAGTTCCTGGAC	0.498000												
OR1M1	125963	broad.mit.edu	37	19	9204308	9204308	+	Silent	SNP	T	T	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr19:9204308T>C	uc010xkj.1	+	1	388	c.388T>C	c.(388-390)TTG>CTG	p.L130L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3						CTGCCACCCATTGCACTACGC	0.547000												
DDX39	10212	broad.mit.edu	37	19	14522340	14522340	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr19:14522340G>A	uc010xnp.1	-	4	452	c.407C>T	c.(406-408)TCC>TTC	p.S136F	DDX39_uc002myo.2_Missense_Mutation_p.S136F|DDX39_uc010dzl.2_RNA|DDX39_uc010dzm.1_Missense_Mutation_p.S136F	NM_005804	NP_005795	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39	136	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding				0						CATGTACTTGGAAAAGCGCTC	0.587000												
ZNF91	7644	broad.mit.edu	37	19	23542926	23542926	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr19:23542926G>T	uc002nre.2	-	4	2968	c.2855C>A	c.(2854-2856)ACC>AAC	p.T952N	ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.T920N	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	952	C2H2-type 29.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTAGTAAGGGTTGAGGATTG	0.393000												
EIF2B4	8890	broad.mit.edu	37	2	27587343	27587343	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:27587343A>G	uc002rkb.2	-	13	1639	c.1496T>C	c.(1495-1497)CTG>CCG	p.L499P	EIF2B4_uc002rjz.2_Missense_Mutation_p.L519P|EIF2B4_uc002rka.2_Missense_Mutation_p.L484P|EIF2B4_uc002rkc.2_Missense_Mutation_p.L498P|EIF2B4_uc002rkd.2_Missense_Mutation_p.L293P|EIF2B4_uc002rke.2_Missense_Mutation_p.L468P	NM_001034116	NP_001029288	Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B,	499					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGATCACCAGATCCACAAG	0.517000												
SNRNP200	23020	broad.mit.edu	37	2	96967313	96967313	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:96967313G>A	uc002svu.2	-	4	609	c.523C>T	c.(523-525)CTG>TTG	p.L175L		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	175						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10						TTTTTGCCCAGGTTCACTAGC	0.438000												
TMEM163	81615	broad.mit.edu	37	2	135309655	135309655	+	Silent	SNP	G	G	A	rs145798414		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:135309655G>A	uc002ttx.2	-	3	396	c.330C>T	c.(328-330)TCC>TCT	p.S110S	TMEM163_uc002tty.2_RNA	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	transmembrane protein 163	110						integral to membrane					0				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACCTCATAACGGAGACAGCTA	0.338000												
DFNB59	494513	broad.mit.edu	37	2	179325944	179325944	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:179325944G>A	uc002umi.3	+	7	1358	c.1002G>A	c.(1000-1002)AAG>AAA	p.K334K	DFNB59_uc002umj.3_Silent_p.K334K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	334					sensory perception of sound						0			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATGGTCAGAAGTATGTGAGAC	0.408000												
TTN	7273	broad.mit.edu	37	2	179593239	179593239	+	Missense_Mutation	SNP	A	A	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:179593239A>C	uc010zfg.1	-	63	15906	c.15682T>G	c.(15682-15684)TTA>GTA	p.L5228V	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L1889V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	6155							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)			AGCACTCTTAAGTAGGCATCA	0.418000												
ERBB4	2066	broad.mit.edu	37	2	212576825	212576825	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:212576825G>T	uc002veg.1	-	9	1172	c.1074C>A	c.(1072-1074)AAC>AAA	p.N358K	ERBB4_uc002veh.1_Missense_Mutation_p.N358K|ERBB4_uc010zji.1_Missense_Mutation_p.N358K|ERBB4_uc010zjj.1_Missense_Mutation_p.N358K|ERBB4_uc010fut.1_Missense_Mutation_p.N358K	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	358	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)		TCTTGGTACAGTTTATGAATT	0.363000										TSP Lung(8;0.080)		
IRS1	3667	broad.mit.edu	37	2	227663060	227663060	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr2:227663060C>T	uc002voh.3	-	1	447	c.395G>A	c.(394-396)GGT>GAT	p.G132D		NM_005544	NP_005535	P35568	IRS1_HUMAN	insulin receptor substrate 1	132	Poly-Gly.|Mediates interaction with PHIP (By similarity).				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	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12		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)		GCTGCCCCCACCACCTCCCGC	0.672000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
RALGAPB	57148	broad.mit.edu	37	20	37203564	37203564	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:37203564A>G	uc002xiw.2	+	30	4696	c.4439A>G	c.(4438-4440)TAT>TGT	p.Y1480C	RALGAPB_uc002xix.2_Missense_Mutation_p.Y1477C|RALGAPB_uc002xiy.1_Missense_Mutation_p.I949V|RALGAPB_uc002xiz.2_Missense_Mutation_p.Y1259C	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit	1480					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			pancreas(1)|skin(1)	2						CCAGAGTTTTATACTTCACTT	0.468000												
NCOA3	8202	broad.mit.edu	37	20	46254163	46254163	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:46254163G>A	uc002xtk.2	+	5	500	c.295G>A	c.(295-297)GAT>AAT	p.D99N	NCOA3_uc010ght.1_Missense_Mutation_p.D99N|NCOA3_uc002xtl.2_Missense_Mutation_p.D99N|NCOA3_uc002xtm.2_Missense_Mutation_p.D99N|NCOA3_uc002xtn.2_Missense_Mutation_p.D99N|NCOA3_uc010zyc.1_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	99					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						TCAAAAAGCCGATGTATCTTC	0.363000												
ZNFX1	57169	broad.mit.edu	37	20	47881369	47881369	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:47881369G>A	uc002xui.2	-	5	2282	c.2035C>T	c.(2035-2037)CGG>TGG	p.R679W		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	679							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCACCCACCCGCACAATGCTG	0.547000												
EEF1A2	1917	broad.mit.edu	37	20	62126332	62126332	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr20:62126332G>A	uc002yfd.1	-	3	548	c.447C>T	c.(445-447)ATC>ATT	p.I149I	EEF1A2_uc002yfe.1_Silent_p.I149I|EEF1A2_uc010gkg.1_Silent_p.I149I	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	149						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TCACGCCCACGATGAGCTGCT	0.617000												
TCN2	6948	broad.mit.edu	37	22	31022488	31022488	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr22:31022488C>T	uc003aip.1	+	9	1422	c.1264C>T	c.(1264-1266)CTG>TTG	p.L422L	TCN2_uc003aiq.1_Silent_p.L418L|TCN2_uc003air.1_Silent_p.L395L	NM_000355	NP_000346	P20062	TCO2_HUMAN	transcobalamin II precursor	422					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCATTGAGCTGAGGCTGGT	0.567000												
PDZRN3	23024	broad.mit.edu	37	3	73432887	73432887	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:73432887G>A	uc003dpl.1	-	10	2926	c.2830C>T	c.(2830-2832)CGG>TGG	p.R944W	PDZRN3_uc011bgh.1_Missense_Mutation_p.R601W|PDZRN3_uc010hoe.1_Missense_Mutation_p.R642W|PDZRN3_uc011bgf.1_Missense_Mutation_p.R661W|PDZRN3_uc011bgg.1_Missense_Mutation_p.R664W	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	944							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGCGCTCCCGCAGCAGGCGG	0.677000												
PHLDB2	90102	broad.mit.edu	37	3	111667811	111667811	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:111667811G>A	uc010hqa.2	+	10	2931	c.2520G>A	c.(2518-2520)CCG>CCA	p.P840P	PHLDB2_uc003dyc.2_Silent_p.P824P|PHLDB2_uc003dyd.2_Silent_p.P797P|PHLDB2_uc003dyg.2_Silent_p.P840P|PHLDB2_uc003dyh.2_Silent_p.P797P|PHLDB2_uc003dyi.2_Intron	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	840						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6						TTAATGAGCCGTGTGGCAATT	0.473000												
KTELC1	56983	broad.mit.edu	37	3	119209420	119209420	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:119209420G>A	uc003ecm.2	+	9	904	c.820G>A	c.(820-822)GTA>ATA	p.V274I	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.V115I	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	274						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)		TTTTCGAGGCGTAGCTGCAAG	0.418000												
DNAJC13	23317	broad.mit.edu	37	3	132172210	132172210	+	Silent	SNP	A	A	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr3:132172210A>C	uc003eor.2	+	7	671	c.606A>C	c.(604-606)ATA>ATC	p.I202I	DNAJC13_uc010htq.1_Silent_p.I202I|DNAJC13_uc003eos.1_5'Flank	NM_015268	NP_056083	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	202							heat shock protein binding			ovary(1)|breast(1)	2						GTAACTACATAGGTATTTCAT	0.353000												
STX18	53407	broad.mit.edu	37	4	4543685	4543685	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:4543685C>T	uc003gic.2	-	1	91	c.7G>A	c.(7-9)GTG>ATG	p.V3M	uc003gid.2_5'Flank	NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	syntaxin 18	3	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity				0				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		GTGATGTCCACCGCCATAGCG	0.711000												
SH3TC1	54436	broad.mit.edu	37	4	8229026	8229026	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:8229026C>T	uc003gkv.3	+	12	1706	c.1605C>T	c.(1603-1605)GAC>GAT	p.D535D	SH3TC1_uc003gkw.3_Silent_p.D459D|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	535							binding			large_intestine(2)|pancreas(1)	3						GCTTCAGCGACGAGGAGGAGC	0.687000												
AFM	173	broad.mit.edu	37	4	74367522	74367522	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:74367522G>A	uc003hhb.2	+	13	1696	c.1665G>A	c.(1663-1665)GTG>GTA	p.V555V		NM_001133	NP_001124	P43652	AFAM_HUMAN	afamin precursor	555	Albumin 3.				vitamin transport		vitamin E binding			ovary(2)|central_nervous_system(1)	3	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCAACTTAGTGAAGCTGAAGC	0.388000												
BMP3	651	broad.mit.edu	37	4	81967172	81967172	+	Silent	SNP	T	T	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr4:81967172T>A	uc003hmg.3	+	2	917	c.597T>A	c.(595-597)TCT>TCA	p.S199S		NM_001201	NP_001192	P12645	BMP3_HUMAN	bone morphogenetic protein 3 preproprotein	199					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(4)|central_nervous_system(1)	5						CCTGGCTGTCTAAAGATATCA	0.453000												
NPR3	4883	broad.mit.edu	37	5	32724837	32724837	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:32724837G>A	uc003jhv.2	+	2	1021	c.803G>A	c.(802-804)CGG>CAG	p.R268Q	NPR3_uc010iuo.2_Missense_Mutation_p.R52Q|NPR3_uc011cnz.1_Missense_Mutation_p.R52Q|NPR3_uc003jhu.2_Missense_Mutation_p.R268Q	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	268	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)	GACACCATCCGGAGCATCATG	0.502000												
ERBB2IP	55914	broad.mit.edu	37	5	65349645	65349645	+	Silent	SNP	T	T	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:65349645T>C	uc003juk.1	+	21	2807	c.2499T>C	c.(2497-2499)CCT>CCC	p.P833P	ERBB2IP_uc003jui.1_Silent_p.P833P|ERBB2IP_uc003juj.1_Silent_p.P833P|ERBB2IP_uc011cqx.1_Silent_p.P833P|ERBB2IP_uc011cqy.1_Silent_p.P833P|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Silent_p.P829P|ERBB2IP_uc003jul.1_Silent_p.P829P	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	833					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CCCAGTCTCCTAATAGGACTG	0.408000												
PDLIM4	8572	broad.mit.edu	37	5	131607859	131607859	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:131607859G>A	uc003kwn.2	+	7	1007	c.930G>A	c.(928-930)GTG>GTA	p.V310V	uc003kwm.3_Intron|PDLIM4_uc003kwp.2_3'UTR|PDLIM4_uc003kwo.2_Silent_p.V418V	NM_003687	NP_003678	P50479	PDLI4_HUMAN	PDZ and LIM domain 4 isoform 1	310	LIM zinc-binding.						protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCGCGCGTGAAGCCGCCCG	0.617000												
APBB3	10307	broad.mit.edu	37	5	139938226	139938226	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:139938226C>T	uc003lgd.1	-	12	1779	c.1420G>A	c.(1420-1422)GTC>ATC	p.V474I	SRA1_uc003lfz.2_5'Flank|SRA1_uc010jfm.2_5'Flank|SRA1_uc003lga.2_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.V246I|APBB3_uc003lgc.1_Missense_Mutation_p.V246I|APBB3_uc003lge.1_Missense_Mutation_p.V467I|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.V246I	NM_133172	NP_573418	O95704	APBB3_HUMAN	amyloid beta precursor protein-binding, family	469						actin cytoskeleton|cytoplasm				ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAGAGAAGACACCCCGCTTT	0.602000												
PCDHB2	56133	broad.mit.edu	37	5	140475721	140475721	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:140475721C>T	uc003lil.2	+	1	1485	c.1347C>T	c.(1345-1347)AAC>AAT	p.N449N	PCDHB2_uc003lim.1_Silent_p.N110N	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	449	Extracellular (Potential).|Cadherin 4.				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)			TCAATGACAACGCCCCCGCCT	0.597000												
SOX30	11063	broad.mit.edu	37	5	157073806	157073806	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:157073806C>T	uc003lxb.1	-	3	1568	c.1226G>A	c.(1225-1227)CGT>CAT	p.R409H	SOX30_uc003lxc.1_Missense_Mutation_p.R409H|SOX30_uc011dds.1_Missense_Mutation_p.R104H	NM_178424	NP_848511	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30 isoform a	409					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus|nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			ovary(1)|central_nervous_system(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCCCTGGACGAGGCTGATA	0.348000												
CCDC99	54908	broad.mit.edu	37	5	169021405	169021405	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:169021405G>A	uc003mae.3	+	6	968	c.689G>A	c.(688-690)CGT>CAT	p.R230H	CCDC99_uc010jjj.2_Missense_Mutation_p.R159H|CCDC99_uc011deq.1_Missense_Mutation_p.R47H|CCDC99_uc010jjk.2_Intron	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	coiled-coil domain containing 99	230	Potential.				cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			ovary(1)|liver(1)	2	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAAAGCTCGTGTAGCAAAT	0.358000												
ADAMTS2	9509	broad.mit.edu	37	5	178548684	178548684	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr5:178548684C>T	uc003mjw.2	-	21	3156	c.3156G>A	c.(3154-3156)TCG>TCA	p.S1052S		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1052					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCCGGATGGGCGAGTCGGGGT	0.627000												
DSP	1832	broad.mit.edu	37	6	7586000	7586000	+	Silent	SNP	C	C	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:7586000C>G	uc003mxp.1	+	24	8784	c.8505C>G	c.(8503-8505)TCC>TCG	p.S2835S	DSP_uc003mxq.1_Silent_p.S2236S	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2835	6 X 4 AA tandem repeats of G-S-R-[SR].|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		gatctcgctccggatctcgct	0.393000												
SLC44A4	80736	broad.mit.edu	37	6	31839132	31839132	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:31839132C>A	uc010jti.2	-	9	726	c.660G>T	c.(658-660)AAG>AAT	p.K220N	SLC44A4_uc011dol.1_Missense_Mutation_p.K144N|SLC44A4_uc011dom.1_Missense_Mutation_p.K178N	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	220	Extracellular (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	CTTCAAAGATCTTAACACTGA	0.522000												
DST	667	broad.mit.edu	37	6	56392430	56392430	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:56392430G>A	uc003pdf.2	-	62	11454	c.11426C>T	c.(11425-11427)GCG>GTG	p.A3809V	DST_uc003pcz.3_Missense_Mutation_p.A3631V|DST_uc011dxj.1_Missense_Mutation_p.A3660V|DST_uc011dxk.1_Missense_Mutation_p.A3671V|DST_uc003pcy.3_Missense_Mutation_p.A3305V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5717					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)			AAGCTGCAGCGCCTGTTCCAG	0.448000												
BVES	11149	broad.mit.edu	37	6	105573419	105573419	+	Missense_Mutation	SNP	C	C	T	rs148128379		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:105573419C>T	uc003pqw.2	-	4	543	c.386G>A	c.(385-387)CGG>CAG	p.R129Q	BVES_uc003pqx.2_Missense_Mutation_p.R129Q|BVES_uc003pqy.2_Missense_Mutation_p.R129Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance isoform 5	129	Cytoplasmic (Potential).				epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity				0		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AAACAATCGCCGGTACATGCC	0.443000												
DDO	8528	broad.mit.edu	37	6	110729555	110729555	+	Missense_Mutation	SNP	C	C	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr6:110729555C>G	uc003puc.2	-	3	351	c.347G>C	c.(346-348)GGT>GCT	p.G116A	C6orf186_uc003pub.2_5'UTR|DDO_uc003pud.2_Missense_Mutation_p.G116A	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	88					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CAAATGAACACCAGCATCTCC	0.378000												
CARD11	84433	broad.mit.edu	37	7	2977628	2977628	+	Silent	SNP	C	C	T	rs145169161		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr7:2977628C>T	uc003smv.2	-	8	1460	c.1056G>A	c.(1054-1056)TCG>TCA	p.S352S		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	352	Potential.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTCCCAGGGTCGAGCACTTGA	0.552000			Mis		DLBCL							
LEP	3952	broad.mit.edu	37	7	127894645	127894645	+	Silent	SNP	G	G	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr7:127894645G>T	uc003vml.2	+	3	390	c.333G>T	c.(331-333)CTG>CTT	p.L111L	LEP_uc003vmm.2_Silent_p.L110L	NM_000230	NP_000221	P41159	LEP_HUMAN	leptin precursor	111					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space					0						TTCACGTGCTGGCCTTCTCTA	0.572000												
DOK2	9046	broad.mit.edu	37	8	21767234	21767234	+	Missense_Mutation	SNP	T	T	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:21767234T>A	uc003wzy.1	-	5	920	c.827A>T	c.(826-828)GAC>GTC	p.D276V	DOK2_uc003wzx.1_Missense_Mutation_p.D276V|DOK2_uc003wzz.1_Missense_Mutation_p.D122V|DOK2_uc010lth.1_Missense_Mutation_p.D122V	NM_003974	NP_003965	O60496	DOK2_HUMAN	docking protein 2	276	Pro-rich.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding				0				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		CGGCAGTGAGTCATGCGGCCG	0.692000												
TOX	9760	broad.mit.edu	37	8	59764183	59764183	+	Missense_Mutation	SNP	C	C	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:59764183C>A	uc003xtw.1	-	4	814	c.593G>T	c.(592-594)AGC>ATC	p.S198I		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	198						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGGAACATTGCTTCCTCCCAT	0.498000												
SULF1	23213	broad.mit.edu	37	8	70515533	70515533	+	Missense_Mutation	SNP	G	G	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:70515533G>T	uc010lza.1	+	11	1885	c.1168G>T	c.(1168-1170)GAC>TAC	p.D390Y	SULF1_uc003xyd.2_Missense_Mutation_p.D390Y|SULF1_uc003xye.2_Missense_Mutation_p.D390Y|SULF1_uc003xyf.2_Missense_Mutation_p.D390Y|SULF1_uc003xyg.2_Missense_Mutation_p.D390Y|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	390					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAAACTTCTGGACCCAGAAAA	0.552000												
DECR1	1666	broad.mit.edu	37	8	91063919	91063919	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr8:91063919C>T	uc003yek.1	+	9	1041	c.900C>T	c.(898-900)GAC>GAT	p.D300D	DECR1_uc011lgc.1_Silent_p.D291D|DECR1_uc011lgd.1_RNA	NM_001359	NP_001350	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1 precursor	300					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH				0			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TTAAATTTGACGGTGGAGAGG	0.343000												
PRUNE2	158471	broad.mit.edu	37	9	79441533	79441533	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:79441533G>A	uc010mpk.2	-	5	748	c.624C>T	c.(622-624)ATC>ATT	p.I208I	PRUNE2_uc004akn.2_Silent_p.I208I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	208					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						GGACGTTGATGATGTCCTCTC	0.498000												
PRPF4	9128	broad.mit.edu	37	9	116041256	116041256	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:116041256C>T	uc004bgx.2	+	3	290	c.240C>T	c.(238-240)AGC>AGT	p.S80S	PRPF4_uc004bgy.2_Silent_p.S79S	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	80				HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3						AGCATATCAGCGAGCGACAGG	0.413000												
CRAT	1384	broad.mit.edu	37	9	131857760	131857760	+	Silent	SNP	G	G	A	rs2296770		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:131857760G>A	uc004bxh.2	-	14	2079	c.1797C>T	c.(1795-1797)AAC>AAT	p.N599N	CRAT_uc004bxg.2_Silent_p.N578N|CRAT_uc004bxk.3_Silent_p.N578N	NM_000755	NP_000746	P43155	CACP_HUMAN	carnitine acetyltransferase precursor	599					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GGCGGGCGGCGTTGGTCTCCG	0.667000												
NELF	26012	broad.mit.edu	37	9	140343924	140343924	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr9:140343924C>T	uc004cna.2	-	16	1747	c.1515G>A	c.(1513-1515)ACG>ACA	p.T505T	C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_Silent_p.T302T|NELF_uc010nci.2_Silent_p.T249T|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Silent_p.T482T|NELF_uc004cmz.2_Silent_p.T503T|NELF_uc004cnc.2_Silent_p.T480T|NELF_uc004cnb.2_Silent_p.T475T	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	nasal embryonic LHRH factor isoform a	505						nucleus|plasma membrane					0	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		AGTCAAAGTACGTCTCGATCA	0.667000												
SHOX	6473	broad.mit.edu	37	X	601735	601735	+	Silent	SNP	C	C	T	rs138998412		TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:601735C>T	uc004cph.1	+	5	1237	c.546C>T	c.(544-546)GGC>GGT	p.G182G	SHOX_uc004cpi.2_Silent_p.G182G	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	182					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGACACAGGCGTCATCTTGG	0.597000												
SHROOM2	357	broad.mit.edu	37	X	9862716	9862716	+	Silent	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:9862716C>T	uc004csu.1	+	4	858	c.768C>T	c.(766-768)GGC>GGT	p.G256G		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	256					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				AGGCCGCAGGCGACCCTCAGG	0.672000												
XK	7504	broad.mit.edu	37	X	37586943	37586943	+	Missense_Mutation	SNP	A	A	G			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:37586943A>G	uc004ddq.2	+	3	645	c.563A>G	c.(562-564)AAC>AGC	p.N188S		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	188	Helical; (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)				TTGCGCTGCAACATCCTAGCC	0.473000												
RPS6KA6	27330	broad.mit.edu	37	X	83362033	83362033	+	Missense_Mutation	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:83362033G>A	uc004eej.1	-	14	1204	c.1127C>T	c.(1126-1128)CCA>CTA	p.P376L	RPS6KA6_uc011mqt.1_Missense_Mutation_p.P376L|RPS6KA6_uc011mqu.1_Missense_Mutation_p.P273L	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	376	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						TGCACTGGCTGGCAAACCGGG	0.333000												
DCAF12L2	340578	broad.mit.edu	37	X	125299308	125299308	+	Silent	SNP	G	G	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:125299308G>A	uc004euk.1	-	1	627	c.600C>T	c.(598-600)GTC>GTT	p.V200V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	200	WD 2.									lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						TCAGCCAGGCGACTGCGAAGA	0.652000												
GPR112	139378	broad.mit.edu	37	X	135426978	135426978	+	Silent	SNP	T	T	C			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:135426978T>C	uc004ezu.1	+	6	1404	c.1113T>C	c.(1111-1113)TCT>TCC	p.S371S	GPR112_uc010nsb.1_Silent_p.S166S|GPR112_uc010nsc.1_Silent_p.S138S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	371	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)					CTACACCTTCTAATTTCCTAT	0.358000												
MAGEA10	4109	broad.mit.edu	37	X	151303075	151303075	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:151303075T>A	uc004ffk.2	-	5	1426	c.1018A>T	c.(1018-1020)AGA>TGA	p.R340*	MAGEA10_uc004ffl.2_Nonsense_Mutation_p.R340*	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	340											0	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTGGGCTCTCTCTTCCTCA	0.473000												
GABRQ	55879	broad.mit.edu	37	X	151820033	151820033	+	Missense_Mutation	SNP	C	C	T			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chrX:151820033C>T	uc004ffp.1	+	8	966	c.946C>T	c.(946-948)CGG>TGG	p.R316W		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) receptor, theta	316						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)					CTCACATCTGCGGGATAAGCT	0.458000												
TP53	7157	broad.mit.edu	37	17	7578266	7578267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:7578266_7578267insA	uc002gim.2	-	6	776_777	c.582_583insT	c.(580-585)CTTATCfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gih.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cng.1_Frame_Shift_Ins_p.L62fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L194fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L101fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L62fs|TP53_uc010vug.1_Frame_Shift_Ins_p.L155fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	194_195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (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.L194R(31)|p.L194F(16)|p.I195F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*12(1)|p.I195L(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.?(1)|p.I195fs*14(1)|p.I195_G199delIRVEG(1)|p.L194I(1)|p.I195fs*52(1)|p.H193_I195>AP(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)		TCCACTCGGATAAGATGCTGAG	0.554		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)		
RRP1	8568	broad.mit.edu	37	21	45223595	45223595	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr21:45223595delT	uc002zds.2	+	13	1419	c.1326delT	c.(1324-1326)AGTfs	p.S442fs	RRP1_uc010gpk.1_Frame_Shift_Del_p.S292fs|RRP1_uc010gpl.1_Frame_Shift_Del_p.S340fs|RRP1_uc010gpm.1_Frame_Shift_Del_p.S309fs	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	442					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		CCCTGACCAGTGCCCGAGCAA	0.682												
ARID1A	8289	broad.mit.edu	37	1	27087887	27087905	+	Frame_Shift_Del	DEL	CACCTCGGCCACCCAGTGG	CACCTCGGCCACCCAGTGG	-			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr1:27087886_27087904CCACCTCGGCCACCCAGTGG>C	uc001bmv.1	+	5	2546_2564	c.2173_2191CCACCTCGGCCACCCAGTGG>C	c.(2173-2193)ccacctcggccacccagtggcfs	p.P725fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.P725fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.P725fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.P342fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	725					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.R727fs*12(2)|p.P728fs(2)	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)		CAACCAGATGCCACCTCGGCCACCCAGTGGCCAGTCGGA	0.525			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""							
TP53	7157	broad.mit.edu	37	17	7578267	7578268	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BR-A4J8-01A-11D-A25D-08	TCGA-BR-A4J8-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a23613-19f9-4e3d-a90b-bc147f910427	2905bcb7-677a-4df3-bdf6-e134ef64213b	g.chr17:7578266_7578267T>TA	uc002gim.2	-	5	776_777	c.582_583A>TA	c.(580-585)cttatcfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gih.3_Frame_Shift_Ins_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.L62fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L194fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L101fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L62fs|TP53_uc010vug.2_Frame_Shift_Ins_p.L155fs|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.H193R(72)|p.I195T(67)|p.I195F(38)|p.L194R(37)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.H193P(14)|p.I195N(12)|p.H193D(9)|p.L194P(8)|p.L194L(8)|p.I195fs*52(8)|p.I195fs*14(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.I195S(6)|p.?(6)|p.L194H(6)|p.P191_E198>Q(4)|p.H193N(4)|p.H193fs*16(3)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.L194fs*14(2)|p.H193H(2)|p.I195_G199delIRVEG(2)|p.I195L(2)|p.L194fs*52(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.I102F(1)|p.P98_E105>Q(1)|p.I63F(1)|p.I63fs*>28(1)|p.L194I(1)|p.I63fs*14(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)		TCCACTCGGATAAGATGCTGAG	0.554		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)