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_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TBC1D15	64786	broad.mit.edu	37	12	72315226	72315226	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:72315226A>T	ENST00000550746.1	+	17	1910	c.1846A>T	c.(1846-1848)Aaa>Taa	p.K616*	TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.K607*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.K370*|TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.K599*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	616							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGATGGTAAAATGCAAGGT	0.313000													25	124					0	0	0.717897	0	0
GRHL3	57822	broad.mit.edu	37	1	24663012	24663012	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:24663012C>A	ENST00000361548.4	+	4	537	c.307C>A	c.(307-309)Ctt>Att	p.L103I	GRHL3_ENST00000342072.4_Missense_Mutation_p.L10I|GRHL3_ENST00000236255.4_Missense_Mutation_p.L108I|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_Missense_Mutation_p.L57I|GRHL3_ENST00000350501.5_Missense_Mutation_p.L103I	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	103					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTCACTCCCCTTGAAAGCCC	0.507000													8	130					0.00307968	0.00349964	0.278610	1	0
HKR1	284459	broad.mit.edu	37	19	37854228	37854228	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:37854228A>T	ENST00000591471.1	+	9	2353	c.712A>T	c.(712-714)Acc>Tcc	p.T238S	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.T450S|HKR1_ENST00000544914.1_Missense_Mutation_p.T238S|HKR1_ENST00000392153.3_Missense_Mutation_p.T492S|HKR1_ENST00000589392.1_Missense_Mutation_p.T493S|HKR1_ENST00000324411.4_Missense_Mutation_p.T511S			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	511					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCGGAAATCAACCCTGAGCAC	0.507000													5	67					0	0	0.248553	0	0
NOTCH4	4855	broad.mit.edu	37	6	32178697	32178697	+	Silent	SNP	G	G	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:32178697G>T	ENST00000375023.3	-	18	2835	c.2697C>A	c.(2695-2697)tcC>tcA	p.S899S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	899	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGGCAAAGGGAAGAGACGT	0.582000													3	41					0.115264	0.128071	0.115264	1	0
RTN4R	65078	broad.mit.edu	37	22	20229582	20229582	+	Silent	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:20229582C>T	ENST00000043402.7	-	2	1512	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	358					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTCCCTTCAGCGCATTGCCTG	0.662000													12	50					0	0	0.520397	0	0
LEF1	51176	broad.mit.edu	37	4	109000758	109000758	+	Silent	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr4:109000758A>G	ENST00000379951.2	-	6	1839	c.651T>C	c.(649-651)caT>caC	p.H217H	LEF1_ENST00000438313.2_Silent_p.H217H|LEF1_ENST00000265165.1_Silent_p.H245H|LEF1_ENST00000510624.1_Silent_p.H149H	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	245	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGGGAATCATATGATGGGAAA	0.468000													28	67					0	0	0.769981	0	0
EIF4G3	8672	broad.mit.edu	37	1	21155713	21155713	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:21155713T>C	ENST00000602326.1	-	29	4547	c.3964A>G	c.(3964-3966)Att>Gtt	p.I1322V	EIF4G3_ENST00000536266.1_Missense_Mutation_p.I920V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1322V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1316V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I1316V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1036V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I806V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1316	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACAACCAAATATGGGGAATA	0.378000													38	101					0	0	0.812448	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30863150	30863150	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:30863150T>G	ENST00000251071.5	-	18	3820	c.3070A>C	c.(3070-3072)Aac>Cac	p.N1024H	CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N974H|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N690H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	1024	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTAAGTTGTTCAGAAGAAGA	0.443000													36	108					0	0	0.788014	0	0
TFR2	7036	broad.mit.edu	37	7	100229562	100229562	+	Silent	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:100229562G>A	ENST00000462107.1	-	9	1260	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Silent_p.L325L|TFR2_ENST00000431692.1_Intron			Q9UP52	TFR2_HUMAN	transferrin receptor 2	325					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGTTCCCAGGTGCACCTGC	0.577000													3	104					0	0	0.115264	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													7	101					0	0	0.307466	0	0
ACVR1B	91	broad.mit.edu	37	12	52370109	52370109	+	Splice_Site	SNP	A	A	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:52370109A>T	ENST00000257963.4	+	3	408		c.e3-1		ACVR1B_ENST00000542485.1_Splice_Site|ACVR1B_ENST00000415850.2_Splice_Site|ACVR1B_ENST00000541224.1_Splice_Site|ACVR1B_ENST00000426655.2_Splice_Site	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CACTTGACTCAGGTCACCTCA	0.532000													4	92					0	0	0.150653	0	0
NEO1	4756	broad.mit.edu	37	15	73581488	73581488	+	Splice_Site	SNP	G	G	A	rs150727403		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:73581488G>A	ENST00000339362.5	+	26	4098	c.3651G>A	c.(3649-3651)ggG>ggA	p.G1217G	NEO1_ENST00000558964.1_Splice_Site_p.G1206G|NEO1_ENST00000560262.1_Splice_Site_p.G1217G|NEO1_ENST00000261908.6_Splice_Site_p.G1217G			Q92859	NEO1_HUMAN	neogenin 1	1217					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACATCTAGGGCATGAGTCAG	0.488000													10	29					0	0	0.411799	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													3	66					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CATGTAGTTGTAGTGGATGGT	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	55					0	0	0.435327	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								30	67					0	0	0.740014	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	T	G	rs10796418	by1000genomes	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112																											AGCAATCTCCTCACTCAGCTG	0.672000													4	48					0	0	0.150653	0	0
AQP7	364	broad.mit.edu	37	9	33395107	33395107	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:33395107A>G	ENST00000539936.1	-	3	351	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587000													10	62					0	0	0.335167	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18573895	18573895	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:18573895G>A	ENST00000433979.1	+	16	2329	c.2213G>A	c.(2212-2214)cGt>cAt	p.R738H	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGAAATTCGTAAAGTGGCA	0.363000													5	105					0	0	0.217242	0	0
MMP12	4321	broad.mit.edu	37	11	102743820	102743820	+	RNA	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:102743820C>T	ENST00000532855.1	-	0	221							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TATCTCAAGGCCATAAAATTT	0.333000													8	28					0	0	0.335167	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868387	31868387	+	Silent	SNP	A	A	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:31868387A>G	ENST00000375527.2	-	2	871	c.696T>C	c.(694-696)ggT>ggC	p.G232G	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	232	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CAATGCCCAGACCCCCTCCCA	0.662000													3	89					0	0	0.115264	0	0
PCSK2	5126	broad.mit.edu	37	20	17462658	17462658	+	Silent	SNP	G	G	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:17462658G>A	ENST00000262545.2	+	12	2175	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	PCSK2_ENST00000536609.1_Silent_p.E585E|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.E601E	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	620					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAGCTGGAGGAAGAGCTGG	0.587000													7	21					0	0	0.307466	0	0
TRPM6	140803	broad.mit.edu	37	9	77457155	77457155	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:77457155T>C	ENST00000451710.3	-	4	494	c.257A>G	c.(256-258)cAc>cGc	p.H86R	TRPM6_ENST00000361255.3_Missense_Mutation_p.H81R|TRPM6_ENST00000449912.2_Missense_Mutation_p.H81R|TRPM6_ENST00000376871.3_Missense_Mutation_p.H86R|TRPM6_ENST00000376864.4_Missense_Mutation_p.H86R|TRPM6_ENST00000359047.2_Missense_Mutation_p.H86R|TRPM6_ENST00000360774.1_Missense_Mutation_p.H86R|TRPM6_ENST00000376872.3_Missense_Mutation_p.H86R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	86					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCGTTGTGTGCTTTTCAAC	0.443000													6	158					0	0	0.248553	0	0
SLC24A3	57419	broad.mit.edu	37	20	19664885	19664885	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:19664885C>G	ENST00000328041.6	+	11	1164	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	323						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCACACCAGCTTTCCTTCTC	0.498000													20	39					0	0	0.592651	0	0
RASA1	5921	broad.mit.edu	37	5	86659176	86659176	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr5:86659176C>T	ENST00000456692.2	+	11	1049	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	RASA1_ENST00000506290.1_Missense_Mutation_p.R323C|RASA1_ENST00000512763.1_Missense_Mutation_p.R322C|RASA1_ENST00000274376.6_Missense_Mutation_p.R489C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	489	SH3.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CAAAGGAAAACGTTGGAAAAA	0.274000													16	75					0	0	0.520397	0	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and 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|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	61					0	0	0.557998	0	0
FOXA3	3171	broad.mit.edu	37	19	46376150	46376150	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:46376150C>T	ENST00000302177.2	+	2	1084	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	296					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AAGCTGGACGCGCCCTACAAC	0.602000													6	32					0	0	0.248553	0	0
MUC16	94025	broad.mit.edu	37	19	9046721	9046721	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:9046721C>A	ENST00000397910.4	-	5	35113	c.34910G>T	c.(34909-34911)aGt>aTt	p.S11637I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11639	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTTGCAGAACTAGTGACCTG	0.522000													45	111					2.24893e-16	2.61504e-16	0.847076	1	0
HPS1	3257	broad.mit.edu	37	10	100195403	100195403	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr10:100195403C>T	ENST00000325103.6	-	4	477	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	HPS1_ENST00000338546.5_Missense_Mutation_p.V82I|HPS1_ENST00000361490.4_Missense_Mutation_p.V82I|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	82					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGTGAAGGACATACAGGAAG	0.537000									Hermansky-Pudlak syndrome				6	182					0	0	0.217242	0	0
SBF2	81846	broad.mit.edu	37	11	9875143	9875143	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:9875143C>A	ENST00000256190.8	-	20	2617	c.2480G>T	c.(2479-2481)tGt>tTt	p.C827F	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	827					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTCTCTGTACAAACTTTGTC	0.398000													4	190					0.150653	0.163754	0.150653	1	0
HYDIN	54768	broad.mit.edu	37	16	71098695	71098695	+	Silent	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr16:71098695C>G	ENST00000393567.2	-	16	2274	c.2124G>C	c.(2122-2124)ggG>ggC	p.G708G	HYDIN_ENST00000321489.5_Silent_p.G708G|HYDIN_ENST00000448089.2_Silent_p.G708G|HYDIN_ENST00000541601.1_Silent_p.G725G|HYDIN_ENST00000538248.1_Silent_p.G735G|HYDIN_ENST00000448691.1_Silent_p.G708G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	708										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCAGTGCCCAAAGTCCA	0.502000													12	39					0	0	0.500413	0	0
DOCK7	85440	broad.mit.edu	37	1	63090967	63090967	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:63090967C>T	ENST00000251157.5	-	12	1421	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	DOCK7_ENST00000404627.2_Missense_Mutation_p.R463Q|DOCK7_ENST00000340370.5_Missense_Mutation_p.R463Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	463					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTAGCTGGTCGAAAGCTCGT	0.388000													5	218					0	0	0.184627	0	0
DEPDC5	9681	broad.mit.edu	37	22	32293560	32293560	+	Silent	SNP	C	C	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:32293560C>T	ENST00000400246.1	+	40	4438	c.4296C>T	c.(4294-4296)ggC>ggT	p.G1432G	DEPDC5_ENST00000400248.2_Silent_p.G1401G|DEPDC5_ENST00000535622.1_Silent_p.G1332G|DEPDC5_ENST00000539165.1_Silent_p.G249G|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Silent_p.G1423G|DEPDC5_ENST00000266091.3_Silent_p.G1410G|DEPDC5_ENST00000400249.2_Silent_p.G1401G|DEPDC5_ENST00000382111.2_Silent_p.G1432G			O75140	DEPD5_HUMAN	DEP domain containing 5	1401					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTGTATGGCGACCCCCTTC	0.547000													38	132					0	0	0.819951	0	0
OR5J2	282775	broad.mit.edu	37	11	55944144	55944144	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:55944144G>C	ENST00000312298.1	+	1	51	c.51G>C	c.(49-51)ttG>ttC	p.L17F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTTGGGATTGACAGATCATG	0.358000													39	148					0	0	0.840704	0	0
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284000													3	108					0	0	0.150653	0	0
LETMD1	25875	broad.mit.edu	37	12	51449667	51449667	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:51449667C>G	ENST00000418425.2	+	5	581	c.562C>G	c.(562-564)Caa>Gaa	p.Q188E	LETMD1_ENST00000552739.1_Missense_Mutation_p.Q58E|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q119E|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000262055.4_Missense_Mutation_p.Q175E	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	175	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GACCCCAAAACAACAAACTGA	0.413000													3	163					0	0	0.115264	0	0
LOC728339	728339	broad.mit.edu	37	4	190757381	190757382	+	RNA	INS	-	-	CAC			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr4:190757381_190757382insCAC	ENST00000511785.1	-	0	425																											cacaccaccatcaccacatcac	0.510													4	3	---	---	---	---					
FOXK1	221937	broad.mit.edu	37	7	4800775	4800776	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:4800775_4800776insC	ENST00000328914.4	+	8	1777_1778	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	FOXK1_ENST00000446823.1_Frame_Shift_Ins_p.A430fs	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	593					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCCAGATGGCCCCCGGGGTC	0.673													8	150	---	---	---	---					
RP11-89K10.1	0	broad.mit.edu	37	8	127580025	127580026	+	RNA	INS	-	-	CTTT	rs149531186	by1000genomes	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr8:127580025_127580026insCTTT	ENST00000519880.1	+	0	57				RP11-89K10.1_ENST00000517773.1_RNA|RP11-89K10.1_ENST00000520512.1_RNA																							tttcttgttccctttctttctt	0.455													3	4	---	---	---	---					
IGHV3-33	28434	broad.mit.edu	37	14	106816104	106816107	+	RNA	DEL	TCTC	TCTC	-			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr14:106816104_106816107delTCTC	ENST00000390615.2	-	0	126																											TCACACTCAGTCTCTCTATTTCTC	0.471													7	6	---	---	---	---					
TCF12	6938	broad.mit.edu	37	15	57524958	57524962	+	Frame_Shift_Del	DEL	CCACC	CCACC	-			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:57524958_57524962delCCACC	ENST00000267811.5	+	11	1178_1182	c.874_878delCCACC	c.(874-879)ccaccafs	p.PP292fs	TCF12_ENST00000452095.2_Frame_Shift_Del_p.PP288fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.PP56fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.PP292fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	292					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACGAGTCTTCCACCAATGTCCAGC	0.424			T	TEC	extraskeletal myxoid chondrosarcoma								14	91	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939371	76939372	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chrX:76939371_76939372insT	ENST00000373344.5	-	9	1590_1591	c.1376_1377insA	c.(1375-1377)aagfs	p.K459fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K421fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	459					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAGCTTCTGACTTTGAAATATC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						80	343	---	---	---	---					
