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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	298					0	0	0.009096	0	0
PRPF8	10594	broad.mit.edu	37	17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517000													5	159					0	0	0.001168	0	0
TPO	7173	broad.mit.edu	37	2	1499888	1499888	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:1499888G>A	ENST00000345913.4	+	12	2225	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	TPO_ENST00000382201.3_Missense_Mutation_p.G655S|TPO_ENST00000349624.3_Missense_Mutation_p.G539S|TPO_ENST00000346956.3_Missense_Mutation_p.G712S|TPO_ENST00000337415.3_Missense_Mutation_p.G712S|TPO_ENST00000329066.4_Missense_Mutation_p.G712S|TPO_ENST00000382198.1_Missense_Mutation_p.G539S|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTTCCAAGTCGGCAAATTCCC	0.562000													7	42					0	0	0.010729	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	93					0	0	0.001168	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224962	26224962	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:26224962T>C	ENST00000056233.3	+	4	1903	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	548					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418000													3	143					0	0	0.004672	0	0
MAML3	55534	broad.mit.edu	37	4	140811093	140811093	+	Silent	SNP	C	C	T	rs72161425		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:140811093C>T	ENST00000509479.2	-	2	2353	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	499	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527000													3	56					0	0	0.009096	0	0
RPS19BP1	91582	broad.mit.edu	37	22	39925565	39925565	+	Missense_Mutation	SNP	T	T	C	rs138779327	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:39925565T>C	ENST00000334678.3	-	4	459	c.343A>G	c.(343-345)Aag>Gag	p.K115E		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	115						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					CCCTCAGCCTTCTTCTTCTTG	0.607000											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	121					0	0	0.004672	0	0
CTBP1-AS2	0	broad.mit.edu	37	4	1244636	1244636	+	RNA	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:1244636C>T	ENST00000581398.1	+	0	590				CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA	NR_033339.1																						CAGGCAGCCACGTGGCTGAGT	0.547000													5	67					0	0	0.000602	0	0
FGF5	2250	broad.mit.edu	37	4	81207632	81207632	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:81207632C>G	ENST00000312465.7	+	3	839	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	205					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTGCAGCCCCCGGGTTAAACC	0.463000													49	88					0	0	0.014410	0	0
MRGPRX4	117196	broad.mit.edu	37	11	18195379	18195379	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr11:18195379T>C	ENST00000314254.3	+	1	996	c.576T>C	c.(574-576)tgT>tgC	p.C192C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTTCTCTGTGTTTCCAGCC	0.522000													5	157					0	0	0.000602	0	0
KLK10	5655	broad.mit.edu	37	19	51518742	51518742	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:51518742G>A	ENST00000309958.3	-	5	827	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KLK10_ENST00000358789.3_Silent_p.V203V|KLK10_ENST00000391805.1_Silent_p.V203V	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	203	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGGGTAGAAGACCTCACACT	0.552000													111	220					0	0	0.014410	0	0
NCOR1P1	0	broad.mit.edu	37	20	26094525	26094525	+	RNA	SNP	T	T	C	rs62211580	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr20:26094525T>C	ENST00000478176.1	-	0	139					NR_003678.1													p.H33R(1)									CTGCTGGTGGTGGGTGCTGGG	0.393000													5	26					0	0	0.008291	0	0
JHDM1D	0	broad.mit.edu	37	7	139824520	139824520	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:139824520T>G	ENST00000397560.2	-	7	1049	c.952A>C	c.(952-954)Agt>Cgt	p.S318R	JHDM1D_ENST00000006967.5_Missense_Mutation_p.S318R	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN		318	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACAGATGAACTCCAAGATTCA	0.358000													18	32					0	0	0.006122	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			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								25	44					0	0	0.006320	0	0
APPL1	26060	broad.mit.edu	37	3	57291436	57291436	+	Silent	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:57291436A>G	ENST00000288266.3	+	15	1557	c.1410A>G	c.(1408-1410)aaA>aaG	p.K470K		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	470					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCAGGCAAAAGCCTTTGGCC	0.493000													3	98					0	0	0.004672	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186136	127186136	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:127186136C>A	ENST00000371124.3	-	1	246	c.50G>T	c.(49-51)gGt>gTt	p.G17V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	17						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGTCCTGAACCATTGTCAAA	0.433000													40	64					2.87052e-16	4.04817e-16	0.005524	1	0
TKTL2	84076	broad.mit.edu	37	4	164393959	164393959	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:164393959G>C	ENST00000280605.3	-	1	1088	c.928C>G	c.(928-930)Cca>Gca	p.P310A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	310						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				taagcaggtggggaggtcatt	0.408000													13	205					0	0	0.002450	0	0
C3	718	broad.mit.edu	37	19	6686853	6686853	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:6686853G>A	ENST00000245907.6	-	28	3642	c.3550C>T	c.(3550-3552)Cag>Tag	p.Q1184*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1184					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TAGGATCTCTGTAGGTTCATG	0.512000													21	119					0	0	0.010504	0	0
ENPEP	2028	broad.mit.edu	37	4	111441429	111441429	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:111441429C>G	ENST00000265162.5	+	10	1976	c.1634C>G	c.(1633-1635)cCt>cGt	p.P545R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	545					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATGGGTTATCCTGTGCTTAAC	0.428000													34	36					0	0	0.013726	0	0
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552000													8	363					0	0	0.008291	0	0
ADAM22	53616	broad.mit.edu	37	7	87757957	87757957	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:87757957A>G	ENST00000398204.4	+	9	1042	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	ADAM22_ENST00000315984.7_Missense_Mutation_p.Y240C|ADAM22_ENST00000398209.3_Missense_Mutation_p.Y240C|ADAM22_ENST00000439864.1_Missense_Mutation_p.Y240C|ADAM22_ENST00000398201.4_Missense_Mutation_p.Y240C|ADAM22_ENST00000265727.7_Missense_Mutation_p.Y240C	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	240	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCAAATACATTGAACTG	0.403000													12	117					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			75	17					0	0	0.014410	0	0
PUS7L	83448	broad.mit.edu	37	12	44149037	44149037	+	Silent	SNP	A	A	G			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr12:44149037A>G	ENST00000416848.2	-	2	500	c.12T>C	c.(10-12)gaT>gaC	p.D4D	PUS7L_ENST00000344862.5_Silent_p.D4D|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000551923.1_Silent_p.D4D|PUS7L_ENST00000553166.1_Silent_p.D4D	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	4					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TATAATCTGTATCTTCTTCCA	0.333000													5	28					0	0	0.000602	0	0
MYOM1	8736	broad.mit.edu	37	18	3188890	3188890	+	Silent	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr18:3188890C>T	ENST00000400569.3	-	4	960	c.627G>A	c.(625-627)acG>acA	p.T209T	MYOM1_ENST00000356443.4_Silent_p.T209T|MYOM1_ENST00000261606.7_Silent_p.T209T			P52179	MYOM1_HUMAN	myomesin 1	209	6 X 6 AA tandem repeats.					striated muscle myosin thick filament	structural constituent of muscle	p.T209T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCTGGATGCCGTGGACTGCT	0.522000													5	227					0	0	0.001984	0	0
TUBBP5	0	broad.mit.edu	37	9	141070069	141070069	+	RNA	SNP	C	C	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr9:141070069C>T	ENST00000503395.1	+	0	1149																											GGTACGTGCCCCGCGCTGTGC	0.711000													4	96					0	0	0.001168	0	0
SLC5A1	6523	broad.mit.edu	37	22	32498215	32498215	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:32498215G>A	ENST00000266088.4	+	13	1906	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	SLC5A1_ENST00000543737.1_Silent_p.P425P	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	552					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.P552P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AACCCATTCCGGATGTGCATG	0.403000													7	209					0	0	0.004482	0	0
TTLL7	79739	broad.mit.edu	37	1	84356051	84356051	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:84356051T>C	ENST00000260505.8	-	19	2699	c.2322A>G	c.(2320-2322)ttA>ttG	p.L774L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	774					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GACTCCAGAGTAAGCGATTAA	0.378000													27	31					0	0	0.010818	0	0
LEPREL1	55214	broad.mit.edu	37	3	189705423	189705423	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:189705423C>A	ENST00000319332.5	-	5	1188	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S	LEPREL1_ENST00000427335.2_Missense_Mutation_p.A150S	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	331					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAGATAGGCTTTGGCACAC	0.468000													25	92					8.58068e-18	1.24194e-17	0.007291	1	0
ARHGAP22	58504	broad.mit.edu	37	10	49791051	49791051	+	Silent	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000417912.2_Silent_p.L61L|ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	61	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607000													4	226					0	0	0.000602	0	0
ADAD1	132612	broad.mit.edu	37	4	123336616	123336616	+	Silent	SNP	A	A	T			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:123336616A>T	ENST00000296513.2	+	11	1517	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P	ADAD1_ENST00000388724.2_Silent_p.P433P|ADAD1_ENST00000388725.2_Silent_p.P426P	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	444	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAACTTCCAATGTTTTACT	0.378000													62	101					0	0	0.014410	0	0
BAGE2	85319	broad.mit.edu	37	21	11047523	11047523	+	RNA	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr21:11047523T>C	ENST00000470054.1	-	0	731									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)		TCATAATTCGTTGAAGACAAA	0.353000													5	468					0	0	0.001168	0	0
ANXA9	8416	broad.mit.edu	37	1	150955565	150955565	+	Splice_Site	SNP	G	G	A			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:150955565G>A	ENST00000368947.4	+	3	460		c.e3-1		ANXA9_ENST00000474997.1_Intron	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9						cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTTCCCCAGGGCAACCAGT	0.622000													5	69					0	0	0.001984	0	0
ZNF185	7739	broad.mit.edu	37	X	152083048	152083048	+	Silent	SNP	T	T	C			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:152083048T>C	ENST00000535861.1	+	1	63	c.15T>C	c.(13-15)gcT>gcC	p.A5A	ZNF185_ENST00000449285.2_Silent_p.A5A|ZNF185_ENST00000318504.7_Silent_p.A5A|ZNF185_ENST00000539731.1_Silent_p.A5A|ZNF185_ENST00000370268.4_Silent_p.A5A|ZNF185_ENST00000324823.6_5'UTR	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	5						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCTCAGCTCTTGGAGGCC	0.547000													7	6					0	0	0.006214	0	0
TRERF1	55809	broad.mit.edu	37	6	42196227	42196227	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr6:42196227delG	ENST00000541110.1	-	18	4087	c.3519delC	c.(3517-3519)atfs	p.I1173fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.I1153fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.I1082fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.I1070fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.I1082fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1153	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGATGGGTTTGATCAGACTCA	0.602													7	400	---	---	---	---					
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)cat>ca	p.HH207del	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)			3	2	---	---	---	---					
FAM157B	0	broad.mit.edu	37	9	141107536	141107537	+	RNA	INS	-	-	GCA			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr9:141107536_141107537insGCA	ENST00000446912.2	+	0	19_20							P0CG42	F157B_HUMAN																			CGgcagcggcggcagcagcagc	0.545													3	5	---	---	---	---					
TRAV9-2	0	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs57759840		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102																											ctctctctctctctctctTTTTTTTTT	0.415													6	7	---	---	---	---					
OTX2-AS1	0	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344																											CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483													4	3	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939674	76939674	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:76939674delT	ENST00000373344.5	-	9	1288	c.1074delA	c.(1072-1074)aafs	p.K358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	358					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)	TCTCAATCAGTTTTTTTGCCT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						100	144	---	---	---	---					
