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	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	isArtifactMode	oxoGCut
GPATCH3	63906	broad.mit.edu	37	1	27226589	27226589	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:27226589C>G	uc001bne.2	-	1	374	c.345G>C	c.(343-345)CAG>CAC	p.Q115H	GPATCH3_uc009vsp.1_Intron	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	G patch domain containing 3	115						intracellular	nucleic acid binding				0		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GAATAAGCCTCTGAGCTTGAG	0.622		NA											42	84					0	0	0	0
OSCP1	127700	broad.mit.edu	37	1	36904426	36904426	+	Silent	SNP	G	G	A	rs139567315	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:36904426G>A	uc001cap.2	-	3	310	c.228C>T	c.(226-228)GCC>GCT	p.A76A	OSCP1_uc001caq.2_Silent_p.A66A|OSCP1_uc001car.2_Silent_p.A66A	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	oxidored-nitro domain-containing protein isoform	76					transport	basal plasma membrane				ovary(2)|central_nervous_system(1)|pancreas(1)	4						CAGTCCTCAGGGCCTTCTTGG	0.473		NA											28	63					0	0	0	0
TMEM48	55706	broad.mit.edu	37	1	54275387	54275387	+	Missense_Mutation	SNP	T	T	C	rs140272518		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:54275387T>C	uc001cvs.2	-	7	977	c.736A>G	c.(736-738)ATG>GTG	p.M246V	TMEM48_uc010onu.1_Missense_Mutation_p.M206V|TMEM48_uc001cvt.2_Missense_Mutation_p.M123V|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	transmembrane protein 48	246	Helical; Name=5; (Potential).				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2						TGAAGGTTCATAGCAGTGCTA	0.308		NA											45	44					0	0	0	0
FAM151A	338094	broad.mit.edu	37	1	55078320	55078320	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:55078320G>T	uc001cxn.2	-	5	771	c.639C>A	c.(637-639)TTC>TTA	p.F213L	ACOT11_uc001cxm.1_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	hypothetical protein LOC338094	213						integral to membrane					0						TGGACATGTAGAAGGTGGTCC	0.567		NA											16	76					6.94e-10	7.39e-10	1	0
RPRD2	23248	broad.mit.edu	37	1	150390094	150390095	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:150390094_150390095TC>AG	uc009wlr.2	+	2	429_430	c.228_229TC>AG	c.(226-231)AATCTC>AAAGTC	p.76_77NL>KV	RPRD2_uc010pcc.1_Missense_Mutation_p.76_77NL>KV|RPRD2_uc001eup.3_Missense_Mutation_p.76_77NL>KV	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	76_77	CID.						protein binding			ovary(1)	1						ACCGTTTGAATCTCTTTTACCT	0.361		NA											81	207					0	0	0	0
ACBD6	84320	broad.mit.edu	37	1	180471245	180471245	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:180471245G>T	uc001gog.2	-	1	778	c.157C>A	c.(157-159)CTG>ATG	p.L53M		NM_032360	NP_115736	Q9BR61	ACBD6_HUMAN	acyl-coenzyme A binding domain containing 6	53	ACB.					cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1						AGGCCTTGCAGGTGCGCGGCA	0.602		NA											32	10					6.51e-10	6.95e-10	1	0
PCNXL2	80003	broad.mit.edu	37	1	233275516	233275516	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr1:233275516C>G	uc001hvl.2	-	20	3838	c.3603G>C	c.(3601-3603)TTG>TTC	p.L1201F	PCNXL2_uc001hvm.1_RNA|PCNXL2_uc009xfu.2_RNA|PCNXL2_uc001hvp.1_RNA|PCNXL2_uc009xfv.1_RNA	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	1201	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				TGAGGGCATTCAAAATTAGCG	0.358		NA											6	21					0	0	0	0
ZMYND11	10771	broad.mit.edu	37	10	294288	294288	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:294288G>A	uc010pzt.1	+	13	1668	c.1240G>A	c.(1240-1242)GAA>AAA	p.E414K	ZMYND11_uc001ifk.2_Missense_Mutation_p.E413K|ZMYND11_uc010pzu.1_Missense_Mutation_p.E414K|ZMYND11_uc010pzv.1_Missense_Mutation_p.E359K|ZMYND11_uc010pzw.1_Missense_Mutation_p.E329K|ZMYND11_uc001ifm.2_Missense_Mutation_p.E360K|ZMYND11_uc010pzx.1_Missense_Mutation_p.E414K|ZMYND11_uc001ifn.2_Missense_Mutation_p.E360K|ZMYND11_uc009xhg.2_Missense_Mutation_p.E397K|ZMYND11_uc009xhh.2_Missense_Mutation_p.E288K|ZMYND11_uc010pzy.1_Missense_Mutation_p.E266K	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	zinc finger, MYND domain containing 11 isoform	374					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACCAGAGCCTGAAACAGAAGC	0.448		NA											51	129					0	0	0	0
SFMBT2	57713	broad.mit.edu	37	10	7239538	7239538	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:7239538G>A	uc009xio.1	-	15	1761	c.1670C>T	c.(1669-1671)CCG>CTG	p.P557L	SFMBT2_uc001ijn.1_Missense_Mutation_p.P557L|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	557					regulation of transcription, DNA-dependent	nucleus		p.P557P(1)		ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						GCATTTGCCCGGTCCCACCGA	0.478		NA											25	90					0	0	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280411	68280411	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:68280411C>T	uc009xpn.1	-	11	1618	c.1495G>A	c.(1495-1497)GAC>AAC	p.D499N	CTNNA3_uc001jmw.2_Missense_Mutation_p.D499N|CTNNA3_uc001jmx.3_Missense_Mutation_p.D499N	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN	catenin, alpha 3	499					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						CTTGTAATGTCATCTACGGCT	0.343		NA											39	118					0	0	0	0
USP54	159195	broad.mit.edu	37	10	75279642	75279642	+	Missense_Mutation	SNP	C	C	T	rs143471997	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr10:75279642C>T	uc001juo.2	-	17	2608	c.2591G>A	c.(2590-2592)CGC>CAC	p.R864H	USP54_uc010qkk.1_Missense_Mutation_p.R46H|USP54_uc001juk.2_Intron|USP54_uc001jul.2_Intron|USP54_uc001jum.2_Intron|USP54_uc001jun.2_Intron|USP54_uc001jup.2_Missense_Mutation_p.R864H	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	864					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(3)|lung(2)|kidney(1)	6	Prostate(51;0.0112)					CTGCTGCATGCGATCCTGCAG	0.577		NA											3	40					0	0	0	0
ATHL1	80162	broad.mit.edu	37	11	294141	294141	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:294141C>T	uc010qvu.1	+	12	1868	c.1753C>T	c.(1753-1755)CTG>TTG	p.L585L	ATHL1_uc001lor.3_Silent_p.L337L|ATHL1_uc001lou.3_Silent_p.L160L|ATHL1_uc001lov.3_Silent_p.L46L	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1	585					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			liver(1)|central_nervous_system(1)|skin(1)	3		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGTGAACTTCCTGACAGGCAT	0.667		NA											33	98					0	0	0	0
AP2A2	161	broad.mit.edu	37	11	988626	988626	+	Silent	SNP	A	A	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:988626A>T	uc001lss.2	+	10	1387	c.1206A>T	c.(1204-1206)CCA>CCT	p.P402P	AP2A2_uc001lst.1_Silent_p.P403P|AP2A2_uc009yco.1_RNA	NM_012305	NP_036437	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2	402					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity				0		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAACGCCCCACAGATCGTGG	0.607		NA											43	112					0	0	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419246	46419246	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46419246C>A	uc010rgu.1	-	18	4011	c.3651G>T	c.(3649-3651)GAG>GAT	p.E1217D	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.E1188D|AMBRA1_uc001ncu.1_Missense_Mutation_p.E1127D|AMBRA1_uc001ncv.2_Missense_Mutation_p.E1220D|AMBRA1_uc001ncw.2_Missense_Mutation_p.E1098D|AMBRA1_uc001ncx.2_Missense_Mutation_p.E1157D	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	1217					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGCCCGGCCTCTGGGAGCA	0.687		NA											24	251					3.8e-18	4.12e-18	1	0
LRP4	4038	broad.mit.edu	37	11	46898081	46898081	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:46898081G>A	uc001ndn.3	-	25	3618	c.3472C>T	c.(3472-3474)CGG>TGG	p.R1158W		NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1158	Extracellular (Potential).|LDL-receptor class B 12.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		AACACTTTCCGCATGGACCCG	0.577		NA											63	298					0	0	0	0
BSCL2	26580	broad.mit.edu	37	11	62457910	62457910	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:62457910G>A	uc001nuo.1	-	11	1550	c.1126C>T	c.(1126-1128)CTA>TTA	p.L376L	LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_3'UTR|BSCL2_uc001nup.2_Silent_p.L376L|BSCL2_uc001nuq.1_Silent_p.L376L|BSCL2_uc001nur.3_Silent_p.L440L|BSCL2_uc009yod.2_Silent_p.L440L|BSCL2_uc001nut.3_Silent_p.L442L|HNRNPUL2_uc001nuu.1_RNA	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN	seipin isoform 2	376	Cytoplasmic (Potential).				cell death	integral to endoplasmic reticulum membrane					0						AGAGTCTCTAGGACAGGGGCA	0.607		NA											22	80					0	0	0	0
ESRRA	2101	broad.mit.edu	37	11	64074712	64074712	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:64074712G>A	uc001nzq.1	+	2	238	c.61G>A	c.(61-63)GAC>AAC	p.D21N	ESRRA_uc001nzr.1_Missense_Mutation_p.D21N|ESRRA_uc001nzs.1_Missense_Mutation_p.D21N	NM_004451	NP_004442	P11474	ERR1_HUMAN	estrogen-related receptor alpha	21	Repressor domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding				0						GGCCAGCCCTGACAGTCCAAA	0.642		NA											21	55					0	0	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68696768	68696768	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:68696768G>T	uc001ook.1	+	8	1280	c.1178G>T	c.(1177-1179)AGA>ATA	p.R393I	IGHMBP2_uc001ooj.1_RNA|IGHMBP2_uc001ool.1_5'Flank	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	393	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGAAGGCCAGAAAGTGCATC	0.627		NA											26	106					4.88e-14	5.24e-14	1	0
REXO2	25996	broad.mit.edu	37	11	114314649	114314649	+	Silent	SNP	C	C	T	rs151260750		TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:114314649C>T	uc001poy.2	+	3	446	c.303C>T	c.(301-303)CAC>CAT	p.H101H	REXO2_uc001poz.2_Intron	NM_015523	NP_056338	Q9Y3B8	ORN_HUMAN	small fragment nuclease precursor	101	Exonuclease.				nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding				0		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AGGAGCATCACGGGAAGGTAA	0.458		NA											4	9					0	0	0	0
TAS2R50	259296	broad.mit.edu	37	12	11138842	11138842	+	Silent	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:11138842G>C	uc001qzl.2	-	1	670	c.618C>G	c.(616-618)CTC>CTG	p.L206L	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176890	NP_795371	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	206	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			ovary(2)	2						GCATCTTCTTGAGATGTTTAC	0.418		NA											58	351					0	0	0	0
C12orf60	144608	broad.mit.edu	37	12	14976229	14976229	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:14976229G>A	uc001rcj.3	+	2	564	c.360G>A	c.(358-360)ACG>ACA	p.T120T		NM_175874	NP_787070	Q5U649	CL060_HUMAN	hypothetical protein LOC144608	120										ovary(1)|central_nervous_system(1)	2						GTGCCCATACGCCAGTCATCA	0.428		NA											45	326					0	0	0	0
IRAK4	51135	broad.mit.edu	37	12	44177513	44177513	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:44177513G>T	uc001rnu.3	+	11	1304	c.1174G>T	c.(1174-1176)GAA>TAA	p.E392*	IRAK4_uc001rnt.3_Nonsense_Mutation_p.E392*|IRAK4_uc001rnx.3_Nonsense_Mutation_p.E268*|IRAK4_uc001rny.3_Nonsense_Mutation_p.E268*|IRAK4_uc010sky.1_Nonsense_Mutation_p.E268*|IRAK4_uc001rnv.3_Nonsense_Mutation_p.E268*|IRAK4_uc001rnw.3_Nonsense_Mutation_p.E268*	NM_001114182	NP_001107654	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	392	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0	all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TGAACACCGTGAACCTCAGTT	0.264		NA											12	20					0.000151284	0.000155313	1	0
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:57389924C>G	uc001smk.2	+	2	1025	c.931C>G	c.(931-933)CTG>GTG	p.L311V	RDH16_uc010sqx.1_Intron	NM_007264	NP_009195	O15218	GP182_HUMAN	G protein-coupled receptor 182	311	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(1)	1						CTTCTCCATGCTGCACTGTGT	0.542		NA											10	415					0	0	0	0
CHST11	50515	broad.mit.edu	37	12	105150982	105150982	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:105150982G>A	uc001tkx.1	+	4	751	c.460G>A	c.(460-462)GAG>AAG	p.E154K	CHST11_uc001tky.2_Missense_Mutation_p.E149K|uc001tkz.2_5'Flank	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	carbohydrate sulfotransferase 11	154	Lumenal (Potential).				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity				0						CCCGGCCAACGAGGCACACGT	0.587		NA											20	74					0	0	0	0
CUX2	23316	broad.mit.edu	37	12	111744814	111744814	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr12:111744814C>T	uc001tsa.1	+	11	1101	c.948C>T	c.(946-948)GAC>GAT	p.D316D		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	316	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|breast(1)	6						TGCTGAAGGACGTGCAGCACC	0.647		NA											24	66					0	0	0	0
PCDH17	27253	broad.mit.edu	37	13	58208360	58208360	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr13:58208360C>T	uc001vhq.1	+	1	2572	c.1680C>T	c.(1678-1680)CCC>CCT	p.P560P	PCDH17_uc010aec.1_Silent_p.P560P	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	protocadherin 17 precursor	560	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CGGGGGCGCCCGCGCACTTGG	0.607		NA											21	42					0	0	0	0
HEATR4	399671	broad.mit.edu	37	14	73978743	73978743	+	Missense_Mutation	SNP	G	G	A	rs139427381	byFrequency	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:73978743G>A	uc010tub.1	-	7	1847	c.1525C>T	c.(1525-1527)CGG>TGG	p.R509W	HEATR4_uc010tua.1_Missense_Mutation_p.R462W	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ATCCGGGGCCGTTCCAAAGCA	0.458		NA											30	126					0	0	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102478730	102478730	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102478730G>A	uc001yks.2	+	34	7101	c.6937G>A	c.(6937-6939)GAG>AAG	p.E2313K	DYNC1H1_uc001ykt.1_5'Flank	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2313	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						AGAGTGGGTTGAGAACTTGAA	0.502		NA											59	101					0	0	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102504839	102504839	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr14:102504839C>T	uc001yks.2	+	58	11115	c.10951C>T	c.(10951-10953)CGT>TGT	p.R3651C		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	3651	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						GGTGCTGAACCGTGAAGTGCG	0.547		NA											17	46					0	0	0	0
SQRDL	58472	broad.mit.edu	37	15	45981253	45981253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:45981253C>G	uc001zvt.2	+	10	1322	c.1133C>G	c.(1132-1134)TCA>TGA	p.S378*	SQRDL_uc001zvu.2_Nonsense_Mutation_p.S378*|SQRDL_uc001zvv.2_Nonsense_Mutation_p.S378*	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	sulfide dehydrogenase like precursor	378							oxidoreductase activity			ovary(1)	1		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GGCTACACATCATGTCCACTG	0.393		NA											52	224					0	0	0	0
ATP8B4	79895	broad.mit.edu	37	15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:50223420C>T	uc001zxu.2	-	16	1680	c.1538G>A	c.(1537-1539)CGG>CAG	p.R513Q	ATP8B4_uc010ber.2_Missense_Mutation_p.R386Q|ATP8B4_uc010ufd.1_Intron|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	513	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398		NA											41	98					0	0	0	0
AKAP13	11214	broad.mit.edu	37	15	86283474	86283474	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr15:86283474C>T	uc002blv.1	+	34	7749	c.7579C>T	c.(7579-7581)CAT>TAT	p.H2527Y	AKAP13_uc002blu.1_Missense_Mutation_p.H2531Y|AKAP13_uc002blw.1_Missense_Mutation_p.H992Y|AKAP13_uc002blx.1_Missense_Mutation_p.H772Y	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2527	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						GAGCGTTGTTCATCTCTACGA	0.468		NA											23	68					0	0	0	0
PDXDC1	23042	broad.mit.edu	37	16	15103580	15103580	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:15103580C>G	uc002dda.3	+	8	915	c.691C>G	c.(691-693)CGA>GGA	p.R231G	PDXDC1_uc010uzl.1_Missense_Mutation_p.R216G|PDXDC1_uc010uzm.1_Missense_Mutation_p.R140G|PDXDC1_uc002dcz.2_Missense_Mutation_p.R208G|PDXDC1_uc002ddb.3_Missense_Mutation_p.R204G|PDXDC1_uc010uzn.1_Missense_Mutation_p.R203G|PDXDC1_uc002ddc.2_Missense_Mutation_p.R231G	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain	231					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			skin(1)	1					Pyridoxal Phosphate(DB00114)	TGATATAGAGCGAGGAAGACT	0.418		NA											42	163					0	0	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24988544	24988544	+	Silent	SNP	T	T	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:24988544T>G	uc002dnb.2	-	3	283	c.190A>C	c.(190-192)AGG>CGG	p.R64R	ARHGAP17_uc002dnc.2_Silent_p.R64R|ARHGAP17_uc010vcf.1_Intron|ARHGAP17_uc002dng.1_Silent_p.R64R	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	nadrin isoform 1	64	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding				0				GBM - Glioblastoma multiforme(48;0.0407)		ACGTGTCTCCTCTCGGCATCG	0.547		NA											38	42					0	0	0	0
SRCAP	10847	broad.mit.edu	37	16	30736322	30736322	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:30736322C>T	uc002dze.1	+	25	5962	c.5577C>T	c.(5575-5577)AGC>AGT	p.S1859S	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.S1654S|SRCAP_uc010bzz.1_Silent_p.S1429S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1859	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			GTCCCCCCAGCCCTCCCTCCA	0.612		NA											125	132					0	0	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:77465453G>A	uc002ffc.3	-	3	653	c.234C>T	c.(232-234)CAC>CAT	p.H78H	ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	78					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						GCAAAATGTCGTGTGAAATAT	0.488		NA											101	418					0	0	0	0
PKD1L2	114780	broad.mit.edu	37	16	81142864	81142864	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr16:81142864T>C	uc002fgh.1	-	43	7021	c.7021A>G	c.(7021-7023)AAA>GAA	p.K2341E	PKD1L2_uc002fgf.1_Missense_Mutation_p.K141E|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2341	Channel pore-region.|Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						AAGAGGGTTTTGTAGGAACGG	0.458		NA											3	19					0	0	0	0
TP53	7157	broad.mit.edu	37	17	7578500	7578500	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578500G>A	uc002gim.2	-	5	624	c.430C>T	c.(430-432)CAG>TAG	p.Q144*	TP53_uc002gig.1_Nonsense_Mutation_p.Q144*|TP53_uc002gih.2_Nonsense_Mutation_p.Q144*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q12*|TP53_uc010cng.1_Nonsense_Mutation_p.Q12*|TP53_uc002gii.1_Nonsense_Mutation_p.Q12*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q144*|TP53_uc010cni.1_Nonsense_Mutation_p.Q144*|TP53_uc002gij.2_Nonsense_Mutation_p.Q144*|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Nonsense_Mutation_p.Q51*|TP53_uc002gio.2_Nonsense_Mutation_p.Q12*|TP53_uc010vug.1_Nonsense_Mutation_p.Q105*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	144	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (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.Q144*(29)|p.Q144L(8)|p.0?(7)|p.Q144H(4)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*26(3)|p.Q144K(2)|p.Q144del(2)|p.Q144Q(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(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)		ACCCACAGCTGCACAGGGCAG	0.597		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)			19	62					0	0	0	0
ATAD5	79915	broad.mit.edu	37	17	29161578	29161578	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:29161578G>A	uc002hfs.1	+	2	825	c.479G>A	c.(478-480)CGT>CAT	p.R160H	ATAD5_uc002hft.1_Missense_Mutation_p.R57H	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	160					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCTGTTTTACGTTACAAGAAA	0.313		NA											69	199					0	0	0	0
AP2B1	163	broad.mit.edu	37	17	33963460	33963460	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:33963460G>A	uc002hjr.2	+	10	1445	c.1256G>A	c.(1255-1257)CGC>CAC	p.R419H	AP2B1_uc002hjq.2_Missense_Mutation_p.R419H|AP2B1_uc010wci.1_Missense_Mutation_p.R381H|AP2B1_uc002hjs.2_Missense_Mutation_p.R362H|AP2B1_uc002hjt.2_Missense_Mutation_p.R419H|AP2B1_uc010ctv.2_Missense_Mutation_p.R419H|AP2B1_uc010wcj.1_Missense_Mutation_p.R156H	NM_001282	NP_001273	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1	419					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			ovary(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GACATCTTCCGCAAATACCCC	0.398		NA											9	30					0	0	0	0
DDX52	11056	broad.mit.edu	37	17	36002269	36002269	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:36002269C>G	uc002hoi.1	-	2	194	c.156G>C	c.(154-156)AAG>AAC	p.K52N	DDX52_uc002hoh.1_5'UTR|DDX52_uc002hoj.1_5'UTR	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	ATP-dependent RNA helicase ROK1 isoform a	52						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|skin(1)	2		Breast(25;0.00637)|Ovarian(249;0.15)				GGACAGACTTCTTGTTTCCAA	0.413		NA											29	82					0	0	0	0
UNK	85451	broad.mit.edu	37	17	73809222	73809222	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:73809222G>A	uc002jpm.2	+	6	914	c.914G>A	c.(913-915)CGC>CAC	p.R305H		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	229	C3H1-type 3.						nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGGCTGTGCCGCCAAGGCTAT	0.637		NA											6	7					0	0	0	0
SPIRE1	56907	broad.mit.edu	37	18	12449740	12449740	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr18:12449740G>A	uc002kre.2	-	17	2215	c.2168C>T	c.(2167-2169)GCC>GTC	p.A723V	SPIRE1_uc002krc.2_RNA|SPIRE1_uc010wzw.1_Missense_Mutation_p.A589V|SPIRE1_uc010wzx.1_Missense_Mutation_p.A512V|SPIRE1_uc010wzy.1_Missense_Mutation_p.A709V	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	spire homolog 1 isoform a	723						cytoskeleton|perinuclear region of cytoplasm	actin binding				0						CCTTTTGTTGGCCAACACCAG	0.522		NA											4	163					0	0	0	0
MAPK4	5596	broad.mit.edu	37	18	48190823	48190823	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr18:48190823G>C	uc002lev.2	+	2	1495	c.495G>C	c.(493-495)AAG>AAC	p.K165N	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.K165N	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	165	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		TCGTGCTCAAGATTGGGGATT	0.562		NA											69	30					0	0	0	0
MUC16	94025	broad.mit.edu	37	19	9085379	9085379	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:9085379G>T	uc002mkp.2	-	1	6640	c.6436C>A	c.(6436-6438)CTT>ATT	p.L2146I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	2146	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						GCCATTGGAAGAGGGACTTCA	0.498		NA											30	94					1.25e-16	1.34e-16	1	0
C19orf57	79173	broad.mit.edu	37	19	14001123	14001123	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr19:14001123C>T	uc002mxl.1	-	6	605	c.546G>A	c.(544-546)GCG>GCA	p.A182A	C19orf57_uc002mxk.1_Silent_p.A64A|C19orf57_uc002mxm.1_Intron	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	hypothetical protein LOC79173	182					multicellular organismal development		protein binding			ovary(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGCCGGGCACCGCCTGCACAG	0.682		NA											51	102					0	0	0	0
NRXN1	9378	broad.mit.edu	37	2	50464073	50464073	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:50464073G>C	uc010fbp.2	-	2	1102	c.295C>G	c.(295-297)CAA>GAA	p.Q99E	NRXN1_uc002rxb.3_Missense_Mutation_p.Q806E|NRXN1_uc010fbq.2_Missense_Mutation_p.Q1174E|NRXN1_uc002rxe.3_Missense_Mutation_p.Q1134E|NRXN1_uc002rxc.1_RNA	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	99	Extracellular (Potential).|Laminin G-like.				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TACGTGATTTGTCCACCACCT	0.448		NA											40	106					0	0	0	0
IL1F7	27178	broad.mit.edu	37	2	113675313	113675313	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:113675313G>C	uc002tij.2	+	4	409	c.367G>C	c.(367-369)GAC>CAC	p.D123H	IL1F7_uc002tik.2_Missense_Mutation_p.D102H|IL1F7_uc002til.2_Missense_Mutation_p.D83H|IL1F7_uc002tim.2_Missense_Mutation_p.D62H|IL1F7_uc002tin.2_Missense_Mutation_p.D97H	NM_014439	NP_055254	Q9NZH6	IL37_HUMAN	interleukin 1 family, member 7 isoform 1	123					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding				0						TCTCTACTGTGACAAGGATAA	0.488		NA											47	145					0	0	0	0
LRP2	4036	broad.mit.edu	37	2	170063539	170063539	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr2:170063539C>T	uc002ues.2	-	39	6904	c.6691G>A	c.(6691-6693)GAG>AAG	p.E2231K		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2231	LDL-receptor class B 22.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAATGCCCTCTGACACAAGC	0.463		NA											68	185					0	0	0	0
SIRPG	55423	broad.mit.edu	37	20	1638344	1638344	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:1638344G>A	uc002wfm.1	-	1	82	c.17C>T	c.(16-18)TCC>TTC	p.S6F	SIRPG_uc002wfn.1_Missense_Mutation_p.S6F|SIRPG_uc002wfo.1_Missense_Mutation_p.S6F	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	6					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						ATGGGGCCAGGAGGCTGGGAC	0.557		NA											34	157					0	0	0	0
INSM1	3642	broad.mit.edu	37	20	20349259	20349259	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr20:20349259C>G	uc002wrx.2	+	1	495	c.348C>G	c.(346-348)TTC>TTG	p.F116L		NM_002196	NP_002187	Q01101	INSM1_HUMAN	insulinoma-associated 1	116	Ala/Gly/Pro-rich.				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				READ - Rectum adenocarcinoma(2;0.0649)		ACAAGTACTTCGAACGCAGCT	0.597		NA											7	10					0	0	0	0
CACNA1I	8911	broad.mit.edu	37	22	39996588	39996588	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr22:39996588G>T	uc003ayc.2	+	3	412	c.412G>T	c.(412-414)GGG>TGG	p.G138W	CACNA1I_uc003ayd.2_Missense_Mutation_p.G138W|CACNA1I_uc003aye.2_Missense_Mutation_p.G53W|CACNA1I_uc003ayf.2_Missense_Mutation_p.G53W	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	138	I.|Helical; Name=S2 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGGCCCTGGGGATTTTTGG	0.562		NA											15	15					7.93e-07	8.22e-07	1	0
CTNNB1	1499	broad.mit.edu	37	3	41275254	41275254	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:41275254C>T	uc010hia.1	+	10	1576	c.1420C>T	c.(1420-1422)CGA>TGA	p.R474*	CTNNB1_uc003ckp.2_Nonsense_Mutation_p.R474*|CTNNB1_uc003ckq.2_Nonsense_Mutation_p.R474*|CTNNB1_uc003ckr.2_Nonsense_Mutation_p.R474*|CTNNB1_uc011azf.1_Nonsense_Mutation_p.R467*|CTNNB1_uc011azg.1_Nonsense_Mutation_p.R402*|CTNNB1_uc003cks.2_Nonsense_Mutation_p.R77*|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	beta-catenin	474	ARM 8.				adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1)	3166				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTGACCAGCCGACACCAAGA	0.542		15	H|Mis|T	PLAG1	colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma				Pilomatrixoma_Familial_Clustering_of				75	103					0	0	0	0
COL6A6	131873	broad.mit.edu	37	3	130300633	130300633	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr3:130300633A>G	uc010htl.2	+	8	3807	c.3776A>G	c.(3775-3777)GAA>GGA	p.E1259G	COL6A6_uc003eni.3_5'Flank	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1259	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						ATCTACAGTGAAAACATACTG	0.403		NA											54	207					0	0	0	0
MRFAP1L1	114932	broad.mit.edu	37	4	6711285	6711285	+	Silent	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:6711285G>A	uc003gjn.2	-	1	312	c.72C>T	c.(70-72)TTC>TTT	p.F24F	MRFAP1L1_uc003gjo.2_Silent_p.F24F	NM_203462	NP_982287	Q96HT8	MR1L1_HUMAN	Morf4 family associated protein 1-like 1	24											0						GGAACTGCTCGAAATCCTCCT	0.632		NA											29	51					0	0	0	0
CEP135	9662	broad.mit.edu	37	4	56830566	56830566	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:56830566C>G	uc003hbi.2	+	7	1060	c.826C>G	c.(826-828)CAG>GAG	p.Q276E	CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Missense_Mutation_p.Q106E	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	276	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)					TTTAAATATTCAGGTAATGGC	0.348		NA											14	32					0	0	0	0
PLA2G12A	81579	broad.mit.edu	37	4	110650952	110650952	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:110650952G>C	uc003hzp.2	-	1	291	c.14C>G	c.(13-15)TCG>TGG	p.S5W	PLA2G12A_uc010img.2_Missense_Mutation_p.S5W	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA precursor	5					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity				0				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CGCGGGGCGCGAGAGCAGGGC	0.736		NA											2	5					0	0	0	0
C4orf31	79625	broad.mit.edu	37	4	121958285	121958285	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:121958285A>C	uc003idq.1	-	4	1368	c.841T>G	c.(841-843)TAC>GAC	p.Y281D		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	hypothetical protein LOC79625 precursor	281	Fibronectin type-III 1.										0						GGCCTGGAGTAGACATGACGC	0.458		NA											20	85					0	0	0	0
TDO2	6999	broad.mit.edu	37	4	156825277	156825277	+	Splice_Site	SNP	T	T	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:156825277T>C	uc003ipf.1	+	2	205	c.141_splice	c.e2+2	p.H47_splice		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase						tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TACCTGCATGTAAGTGGCAGG	0.423		NA											24	33					0	0	0	0
DNAH5	1767	broad.mit.edu	37	5	13817674	13817674	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:13817674G>T	uc003jfd.2	-	42	7013	c.6971C>A	c.(6970-6972)ACA>AAA	p.T2324K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2324	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)					TGCTCTTAATGTTTTCCTCCA	0.383		NA							Kartagener_syndrome				20	123					5.35e-07	5.59e-07	1	0
MYO10	4651	broad.mit.edu	37	5	16694532	16694532	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:16694532C>T	uc003jft.3	-	27	4216	c.3748G>A	c.(3748-3750)GAA>AAA	p.E1250K	MYO10_uc011cnc.1_Missense_Mutation_p.E129K|MYO10_uc011cnd.1_Missense_Mutation_p.E607K|MYO10_uc011cne.1_Missense_Mutation_p.E607K|MYO10_uc010itx.2_Missense_Mutation_p.E873K	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1250	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3						CTGTCGTTTTCAAAGTACATC	0.552		NA											61	227					0	0	0	0
RREB1	6239	broad.mit.edu	37	6	7229363	7229363	+	Missense_Mutation	SNP	G	G	A	rs114551633	by1000genomes	TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:7229363G>A	uc003mxc.2	+	10	1421	c.1031G>A	c.(1030-1032)GGT>GAT	p.G344D	RREB1_uc003mxb.2_Missense_Mutation_p.G344D|RREB1_uc010jnx.2_Missense_Mutation_p.G344D	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	344					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAGACCAGGGTCAAGAAAAG	0.622		NA											16	30					0	0	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114408	27114408	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:27114408G>C	uc003nix.1	-	1	212	c.170C>G	c.(169-171)TCT>TGT	p.S57C	HIST1H2AH_uc003niz.2_5'Flank|hsa-mir-3143|MI0014167_5'Flank	NM_080593	NP_542160	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	57					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding				0						CATGGCCTTAGAGGAGATGCC	0.577		NA											69	414					0	0	0	0
OR5V1	81696	broad.mit.edu	37	6	29323454	29323454	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:29323454C>A	uc011dlo.1	-	1	601	c.519G>T	c.(517-519)CAG>CAT	p.Q173H		NM_030876	NP_110503	Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V,	173	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|kidney(1)	4						AGTAATTAATCTGATTGTTGC	0.463		NA											35	140					3.93e-24	4.31e-24	1	0
TNFRSF21	27242	broad.mit.edu	37	6	47254185	47254185	+	Silent	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:47254185G>T	uc003oyv.2	-	2	676	c.243C>A	c.(241-243)ACC>ACA	p.T81T		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	81	Extracellular (Potential).|TNFR-Cys 1.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)			GGCTTGTGTTGGTACAATGCT	0.542		NA											20	57					3.52e-12	3.77e-12	1	0
AKAP12	9590	broad.mit.edu	37	6	151671735	151671735	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr6:151671735C>A	uc011eep.1	+	4	2449	c.2209C>A	c.(2209-2211)CCA>ACA	p.P737T	AKAP12_uc003qoe.2_Missense_Mutation_p.P737T|AKAP12_uc003qof.2_Missense_Mutation_p.P639T|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.P632T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12 isoform 1	737					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	8		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAACATGATCCAGGGCAGGG	0.547		NA											67	181					8.34e-18	9.01e-18	1	0
TNRC18	84629	broad.mit.edu	37	7	5413746	5413746	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:5413746C>T	uc003soi.3	-	10	3518	c.3169G>A	c.(3169-3171)GAG>AAG	p.E1057K		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1057	Pro-rich.						DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTTTCTTCTCGACCACATTC	0.677		NA											3	40					0	0	0	0
MGC87042	256227	broad.mit.edu	37	7	22534408	22534408	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:22534408C>A	uc003svh.2	-	2	164	c.67G>T	c.(67-69)GAA>TAA	p.E23*	MGC87042_uc010kum.1_Nonsense_Mutation_p.E23*			Q6NZ63	STEAL_HUMAN	SubName: Full=cDNA FLJ60218, highly similar to Six transmembrane epithelial antigen ofprostate 1;	23						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity				0						TCGTTGTCTTCTAAATTTCTC	0.274		NA											9	71					0.000274275	0.000279922	1	0
ABCA13	154664	broad.mit.edu	37	7	48411940	48411940	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:48411940C>G	uc003toq.2	+	33	11004	c.10979C>G	c.(10978-10980)TCA>TGA	p.S3660*	ABCA13_uc010kys.1_Nonsense_Mutation_p.S734*|ABCA13_uc003tos.1_Nonsense_Mutation_p.S486*	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	3660	Helical; (Potential).				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10						TTTGGGATGTCAGTCGTCATG	0.458		NA											83	673					0	0	0	0
SEMA3A	10371	broad.mit.edu	37	7	83643635	83643635	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:83643635C>T	uc003uhz.2	-	7	1015	c.700G>A	c.(700-702)GAG>AAG	p.E234K		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	234	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TTGTCACTCTCTGAGATGAGG	0.368		NA											21	60					0	0	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965298	88965298	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:88965298C>T	uc011khi.1	+	4	3540	c.3002C>T	c.(3001-3003)ACG>ATG	p.T1001M		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1001						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CCAAGGACTACGGAGAAAGAC	0.368		NA								HNSCC(36;0.09)			29	58					0	0	0	0
BCAP29	55973	broad.mit.edu	37	7	107224424	107224424	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:107224424C>T	uc003vej.2	+	3	529	c.190C>T	c.(190-192)CTA>TTA	p.L64L	BCAP29_uc011kly.1_5'UTR|BCAP29_uc011klz.1_Silent_p.L64L|BCAP29_uc011kma.1_Silent_p.L64L	NM_018844	NP_061332	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein BAP29 isoform	64	Helical; (Potential).				apoptosis|intracellular protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)|ovary(1)	2						TGTTCTATTTCTAGGTAAGTA	0.279		NA											23	67					0	0	0	0
CREB3L2	64764	broad.mit.edu	37	7	137686374	137686374	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:137686374G>C	uc003vtw.2	-	1	473	c.78C>G	c.(76-78)GAC>GAG	p.D26E	CREB3L2_uc003vtx.1_Missense_Mutation_p.D26E|CREB3L2_uc003vty.3_Missense_Mutation_p.D26E|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank|AKR1D1_uc011kqd.1_5'Flank	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like	26	Cytoplasmic (Potential).				chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1)	160						GGGCCTCGCCGTCCCCGGGCT	0.706		NA	T	FUS	fibromyxoid sarcoma								14	39					0	0	0	0
LUC7L2	51631	broad.mit.edu	37	7	139060879	139060879	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:139060879C>T	uc003vux.2	+	2	507	c.133C>T	c.(133-135)CCT>TCT	p.P45S	LUC7L2_uc011kqs.1_Missense_Mutation_p.P42S|LUC7L2_uc011kqt.1_Missense_Mutation_p.P111S|LUC7L2_uc003vuy.2_Missense_Mutation_p.P44S|LUC7L2_uc003vuz.1_5'UTR|LUC7L2_uc003vva.2_5'UTR	NM_016019	NP_057103	Q9Y383	LC7L2_HUMAN	LUC7-like 2	45							enzyme binding|metal ion binding				0	Melanoma(164;0.242)					CAACTGTTGTCCTCATGATGT	0.338		NA											23	67					0	0	0	0
WWP1	11059	broad.mit.edu	37	8	87460450	87460450	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:87460450T>A	uc003ydt.2	+	19	2352	c.2072T>A	c.(2071-2073)CTT>CAT	p.L691H	WWP1_uc010mai.2_Missense_Mutation_p.L467H	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase	691	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			lung(1)|liver(1)	2						AGTAAAAAACTTACTATTAAG	0.274		NA											17	104					0	0	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457059	110457059	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:110457059G>A	uc003yne.2	+	38	5065	c.4961G>A	c.(4960-4962)CGA>CAA	p.R1654Q		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1654	Extracellular (Potential).				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGATAGGCGATTTGTACTT	0.433		NA								HNSCC(38;0.096)			187	517					0	0	0	0
ADCY8	114	broad.mit.edu	37	8	131862050	131862050	+	Splice_Site	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:131862050C>T	uc003ytd.3	-	10	2467	c.2211_splice	c.e10-1	p.R737_splice	ADCY8_uc010mds.2_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGGCATCACTCTGCAGGGAAA	0.468		NA								HNSCC(32;0.087)			3	46					0	0	0	0
EIF2C2	27161	broad.mit.edu	37	8	141557665	141557665	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:141557665C>G	uc003yvn.2	-	13	1690	c.1650G>C	c.(1648-1650)AAG>AAC	p.K550N	EIF2C2_uc010men.2_Missense_Mutation_p.K473N|EIF2C2_uc010meo.2_Missense_Mutation_p.K550N	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	550	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			TCTGCACGTTCTTCATCTGCA	0.627		NA											44	117					0	0	0	0
NAPRT1	93100	broad.mit.edu	37	8	144659233	144659233	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr8:144659233G>A	uc003yym.3	-	5	708	c.683C>T	c.(682-684)CCG>CTG	p.P228L	NAPRT1_uc003yyn.3_Missense_Mutation_p.P228L|NAPRT1_uc011lkh.1_Missense_Mutation_p.P228L|NAPRT1_uc003yyo.3_Missense_Mutation_p.P228L	NM_145201	NP_660202	Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain	228					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACTGACCGGGTCAGGGGG	0.677		NA											7	82					0	0	0	0
KIAA1161	57462	broad.mit.edu	37	9	34371689	34371689	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:34371689C>T	uc003zue.3	-	3	1420	c.1253G>A	c.(1252-1254)CGG>CAG	p.R418Q		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	418	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGCAGGTAACCGGCCCGTGGG	0.672		NA											5	25					0	0	0	0
TRPM6	140803	broad.mit.edu	37	9	77377269	77377269	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:77377269G>A	uc004ajl.1	-	26	4556	c.4318C>T	c.(4318-4320)CTT>TTT	p.L1440F	TRPM6_uc004ajk.1_Missense_Mutation_p.L1435F|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.L396F	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1440	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						GCTTGGGAAAGAGGGGAGCTC	0.473		NA											44	207					0	0	0	0
ZNF169	169841	broad.mit.edu	37	9	97062822	97062822	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:97062822C>T	uc004aum.1	+	5	1087	c.982C>T	c.(982-984)CGC>TGC	p.R328C		NM_194320	NP_919301	Q14929	ZN169_HUMAN	zinc finger protein 169	328	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.136)				GCGAGGCTTTCGCCAGAAGAT	0.542		NA											45	269					0	0	0	0
ZNF510	22869	broad.mit.edu	37	9	99521950	99521950	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:99521950T>A	uc004awn.1	-	6	1351	c.1162A>T	c.(1162-1164)ACG>TCG	p.T388S	ZNF510_uc004awo.1_Missense_Mutation_p.T388S	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)				TGAACCGACGTCTGGTAGGAT	0.393		NA											82	445					0	0	0	0
NANS	54187	broad.mit.edu	37	9	100845233	100845233	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:100845233G>A	uc004ayb.2	+	7	1618	c.976G>A	c.(976-978)GAC>AAC	p.D326N	NANS_uc004ayc.2_Missense_Mutation_p.D326N|TRIM14_uc004ayd.2_Intron|TRIM14_uc004ayf.1_Intron	NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid phosphate synthase	326	AFP-like.				lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			skin(1)	1		Acute lymphoblastic leukemia(62;0.0559)				TCCTCCTGAAGACATCTTTAA	0.458		NA											24	125					0	0	0	0
OR13C4	138804	broad.mit.edu	37	9	107288872	107288872	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:107288872G>T	uc011lvn.1	-	1	619	c.619C>A	c.(619-621)CTA>ATA	p.L207I		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						GGAAGAACTAGGAAAGCAATA	0.383		NA											64	137					1.49e-21	1.62e-21	1	0
ENTPD8	377841	broad.mit.edu	37	9	140332687	140332687	+	Silent	SNP	C	C	T			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr9:140332687C>T	uc004cmw.2	-	2	235	c.51G>A	c.(49-51)TCG>TCA	p.S17S	C9orf167_uc011mew.1_Intron|ENTPD8_uc004cmx.2_Silent_p.S17S|ENTPD8_uc004cmy.2_Silent_p.S17S	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	17	Helical; (Potential).					integral to membrane|plasma membrane	ATP binding			skin(1)	1	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CTGAGACCCCCGAGGCCCCCA	0.697		NA											6	27					0	0	0	0
PAGE2	203569	broad.mit.edu	37	X	55117016	55117016	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chrX:55117016G>A	uc004duf.1	+	3	220	c.166G>A	c.(166-168)GAA>AAA	p.E56K		NM_207339	NP_997222	Q7Z2X7	GGEE2_HUMAN	P antigen family, member 2	56										ovary(2)	2						TGGGGAGATTGAAAATCAAGC	0.443		NA											9	11					0	0	0	0
RSF1	51773	broad.mit.edu	37	11	77394814	77394814	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr11:77394814delT	uc001oyn.2	-	11	3126	c.3006delA	c.(3004-3006)AAAfs	p.K1002fs	RSF1_uc001oym.2_Frame_Shift_Del_p.K750fs	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1002	Potential.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTGCTTTGGATTTTTTTGAAT	0.323		NA											28	88	---	---	---	---	NA	NA	NA	NA
TP53	7157	broad.mit.edu	37	17	7578192	7578193	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr17:7578192_7578193delGG	uc002gim.2	-	6	850_851	c.656_657delCC	c.(655-657)CCCfs	p.P219fs	TP53_uc002gig.1_Frame_Shift_Del_p.P219fs|TP53_uc002gih.2_Frame_Shift_Del_p.P219fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.P87fs|TP53_uc010cng.1_Frame_Shift_Del_p.P87fs|TP53_uc002gii.1_Frame_Shift_Del_p.P87fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P219fs|TP53_uc010cni.1_Frame_Shift_Del_p.P219fs|TP53_uc002gij.2_Frame_Shift_Del_p.P219fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.P126fs|TP53_uc002gio.2_Frame_Shift_Del_p.P87fs|TP53_uc010vug.1_Frame_Shift_Del_p.P180fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	219	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> C (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (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.0?(7)|p.P219S(4)|p.P219P(4)|p.P219L(3)|p.P219T(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.Y220_P223delYEPP(1)|p.V218fs*26(1)|p.?(1)|p.P219R(1)|p.V218_P219insX(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.K164_P219del(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.P219C(1)|p.V216_Y220delVVVPY(1)|p.P219H(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)		GCGGCTCATAGGGCACCACCAC	0.545		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)			23	22	---	---	---	---	NA	NA	NA	NA
YTHDC1	91746	broad.mit.edu	37	4	69195943	69195944	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr4:69195943_69195944delAC	uc003hdx.2	-	8	1560_1561	c.1207_1208delGT	c.(1207-1209)GTCfs	p.V403fs	YTHDC1_uc003hdy.2_Frame_Shift_Del_p.V385fs	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	403	YTH.									upper_aerodigestive_tract(1)|ovary(1)	2						ACTCTCTCTGACAGAAAATATT	0.277		NA											8	41	---	---	---	---	NA	NA	NA	NA
FYB	2533	broad.mit.edu	37	5	39139348	39139348	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr5:39139348delC	uc003jls.2	-	4	1413	c.1346delG	c.(1345-1347)GGAfs	p.G449fs	FYB_uc003jlt.2_Frame_Shift_Del_p.G449fs|FYB_uc003jlu.2_Frame_Shift_Del_p.G449fs|FYB_uc011cpl.1_Frame_Shift_Del_p.G459fs	NM_199335	NP_955367	O15117	FYB_HUMAN	FYN binding protein (FYB-120/130) isoform 2	449					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			ovary(2)	2	all_lung(31;0.000343)		Epithelial(62;0.235)			ATCTAGATTTCCAGCACCTAA	0.244		NA											2	4	---	---	---	---	NA	NA	NA	NA
COL1A2	1278	broad.mit.edu	37	7	94027705	94027705	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-4224-01A-01D-1434-08	TCGA-BB-4224-10A-01D-1434-08	 	 	 	 	 	 	 	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	cfa7d658-031d-4cd4-9ca3-ceaa201f702d	1531c3a5-b0ac-4076-a2b7-a9ff9b855840	g.chr7:94027705delA	uc003ung.1	+	3	564	c.93delA	c.(91-93)AGAfs	p.R31fs	COL1A2_uc011kib.1_Frame_Shift_Del_p.R31fs	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	31					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAACTGTAAGAAAGGTAAGAG	0.234		NA								HNSCC(75;0.22)			2	4	---	---	---	---	NA	NA	NA	NA
