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
PCDHA6	56142	broad.mit.edu	37	5	140209295	140209295	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:140209295C>T	ENST00000529310.1	+	1	1733	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCGGGCGTGCCG	0.677000													34	192					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502432	220502432	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220502432C>T	ENST00000358055.3	+	17	3177	c.2665C>T	c.(2665-2667)Cag>Tag	p.Q889*	SLC4A3_ENST00000373762.3_Nonsense_Mutation_p.Q916*|SLC4A3_ENST00000317151.3_Nonsense_Mutation_p.Q889*|SLC4A3_ENST00000273063.6_Nonsense_Mutation_p.Q916*|SLC4A3_ENST00000373760.2_Nonsense_Mutation_p.Q889*			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	889	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGAGGAACCAGCCCAATAC	0.652000													13	92					0	0	1	0	0
EFCAB14	9813	broad.mit.edu	37	1	47144306	47144306	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:47144306G>T	ENST00000371933.3	-	11	2291	c.1315C>A	c.(1315-1317)Ctt>Att	p.L439I	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000418985.1_RNA|EFCAB14-AS1_ENST00000442839.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		AAATCCTGAAGATCTGTCAAA	0.393000													5	59					0.00116845	0.00122761	1	1	0
FAT4	79633	broad.mit.edu	37	4	126400915	126400915	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:126400915G>A	ENST00000394329.3	+	14	12506	c.12493G>A	c.(12493-12495)Gct>Act	p.A4165T	FAT4_ENST00000335110.5_Intron	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4165	EGF-like 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCTGGAAGGCGCTTGTACTCG	0.418000													5	21					0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118480755	118480755	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:118480755G>A	ENST00000315436.3	-	4	591	c.450C>T	c.(448-450)tcC>tcT	p.S150S	WSB2_ENST00000441406.2_Silent_p.S167S|WSB2_ENST00000535496.1_Silent_p.S152S|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000544233.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	150					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTGGTGGCCGGAAAGATTCA	0.592000													4	132					0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75512584	75512584	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:75512584G>A	ENST00000332272.4	-	3	1322	c.1143C>T	c.(1141-1143)aaC>aaT	p.N381N	CHST6_ENST00000390664.2_Silent_p.N381N|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	381					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGTGAAGCCGTTCAGGCCTC	0.637000													4	89					0	0	1	0	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													7	93					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139409770	139409770	+	Nonsense_Mutation	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:139409770G>C	ENST00000277541.6	-	12	2061	c.1986C>G	c.(1984-1986)taC>taG	p.Y662*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	662	EGF-like 17; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCACACTCGTAGCCATCGA	0.642000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			22	65					0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103987462	103987462	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr10:103987462T>A	ENST00000370005.3	+	2	402	c.181T>A	c.(181-183)Ttc>Atc	p.F61I		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	61					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		ACGCAAGGGCTTCAACCTGCA	0.552000													23	114					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935349	30935349	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr19:30935349C>T	ENST00000355537.3	+	2	1027	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCCACATCCGCATCTTGCA	0.642000													10	119					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178359524	178359524	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:178359524C>T	ENST00000361362.2	+	5	1740	c.1210C>T	c.(1210-1212)Cat>Tat	p.H404Y	ZFP2_ENST00000520301.1_Missense_Mutation_p.H404Y|ZFP2_ENST00000503510.2_Missense_Mutation_p.H404Y|ZFP2_ENST00000523286.1_Missense_Mutation_p.H404Y	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	404					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TCAAAGAATTCATACTGGTGA	0.418000													11	41					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923429	34923429	+	Missense_Mutation	SNP	A	A	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:34923429A>T	ENST00000356577.4	+	3	2367	c.1892A>T	c.(1891-1893)gAg>gTg	p.E631V	SON_ENST00000290239.6_Missense_Mutation_p.E631V|SON_ENST00000381679.4_Missense_Mutation_p.E631V|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E631V	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	631					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGGGTGCTGGAGTTGCCAGGG	0.652000													10	61					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	32					0.004672	0.0048472	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80646701	80646701	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:80646701G>A	ENST00000466387.1	+	13	1989	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R422H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R422H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R456H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R101H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R422H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	422					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAAGTTTTCCGTGAGCATGCC	0.443000													10	72					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	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													4	72					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79403045	79403045	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:79403045C>T	ENST00000264895.6	+	57	8971	c.8531C>T	c.(8530-8532)gCt>gTt	p.A2844V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2839	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAGACCCAGCTTCTGCCACA	0.522000													26	147					0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92177929	92177929	+	Silent	SNP	C	C	T	rs148167041	by1000genomes	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:92177929C>T	ENST00000212355.4	-	13	2502	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	TGFBR3_ENST00000370399.2_Silent_p.P678P|TGFBR3_ENST00000525962.1_Silent_p.P679P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	679	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TGTCAGCTTGCGGGATAGGAA	0.433000													4	131					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919840	12919840	+	Missense_Mutation	SNP	T	T	C	rs142071411	by1000genomes	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:12919840T>C	ENST00000240189.2	+	3	667	c.580T>C	c.(580-582)Tat>Cat	p.Y194H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	194								p.Y194H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAATTAAATATCTCAGAAA	0.383000													5	290					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74639389	74639389	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr18:74639389T>C	ENST00000253159.8	+	24	4522	c.4324T>C	c.(4324-4326)Tcc>Ccc	p.S1442P	ZNF236_ENST00000320610.9_Missense_Mutation_p.S1444P	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1442					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CTCAGGCCTGTCCTTACAGCC	0.602000													11	42					0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105963513	105963513	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr10:105963513C>T	ENST00000357060.3	-	8	1127	c.1012G>A	c.(1012-1014)Gag>Aag	p.E338K	WDR96_ENST00000428666.1_Missense_Mutation_p.E339K|WDR96_ENST00000278064.2_Missense_Mutation_p.E269K|WDR96_ENST00000369719.1_Missense_Mutation_p.E269K|WDR96_ENST00000369720.1_Missense_Mutation_p.E269K	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN	WD repeat domain 96	338										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAAAATCCTCGATCATGTAA	0.328000													3	45					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114018536	114018536	+	Missense_Mutation	SNP	G	G	A	rs147577671	byFrequency	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:114018536G>A	ENST00000481065.1	+	4	3300	c.685G>A	c.(685-687)Gcg>Acg	p.A229T	TIGIT_ENST00000486257.1_Missense_Mutation_p.A162T|TIGIT_ENST00000383671.3_Missense_Mutation_p.A162T			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	162					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CGTGGTGGTCGCGTTGACTAG	0.607000													22	29					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499196	59499196	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr15:59499196G>A	ENST00000307144.4	+	1	155	c.57G>A	c.(55-57)gcG>gcA	p.A19A	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	19					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CGGTGGGAGCGAATTTCCTAT	0.592000													7	49					0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37328806	37328806	+	Splice_Site	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr22:37328806G>A	ENST00000262825.5	+	9	1247		c.e9-1		CSF2RB_ENST00000406230.1_Splice_Site|CSF2RB_ENST00000536485.1_Splice_Site|CSF2RB_ENST00000403662.3_Splice_Site	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)						respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCTCCCTCCAGTCCAGATGGC	0.552000													6	34					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166405653	166405653	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:166405653G>A	ENST00000402744.4	+	5	1150	c.870G>A	c.(868-870)ccG>ccA	p.P290P		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	290					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTTCAACCCGGCCATGTCTG	0.517000													5	428					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47530617	47530617	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr14:47530617G>A	ENST00000426342.1	-	7	1212	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	MDGA2_ENST00000357362.3_Missense_Mutation_p.R156W|MDGA2_ENST00000439988.2_Missense_Mutation_p.R385W|MDGA2_ENST00000399232.2_Missense_Mutation_p.R454W	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	385	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						ATGACCATCCGCTCAGAACTT	0.418000													17	127					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157488283	157488283	+	Missense_Mutation	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr6:157488283T>C	ENST00000346085.5	+	10	2990	c.2989T>C	c.(2989-2991)Tac>Cac	p.Y997H	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y984H|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y984H|ARID1B_ENST00000275248.4_Missense_Mutation_p.Y926H	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	984					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCGCCGCCCTACAGCATGGC	0.612000													20	120					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52774199	52774199	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:52774199G>C	ENST00000257951.3	-	7	1438	c.1372C>G	c.(1372-1374)Ctg>Gtg	p.L458V		NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	458	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGATGTCCAGGCCCAGCTTG	0.607000											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	61					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			7	53					0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205334	81205334	+	Silent	SNP	T	T	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:81205334T>C	ENST00000552864.1	-	5	814	c.612A>G	c.(610-612)cgA>cgG	p.R204R		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	204					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						GCCTGGCTGTTCGTAGCTTTT	0.502000													6	20					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152807232	152807232	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:152807232C>T	ENST00000370186.1	+	4	838	c.512C>T	c.(511-513)aCg>aTg	p.T171M	ATP2B3_ENST00000370181.2_Missense_Mutation_p.T171M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.T171M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.T171M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T171M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T171M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	171					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTGGTCACGGCCTTCAAT	0.617000													34	64					0	0	1	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919833	12919833	+	Silent	SNP	A	A	G	rs150145103	byFrequency	TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:12919833A>G	ENST00000240189.2	+	3	660	c.573A>G	c.(571-573)ccA>ccG	p.P191P		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	191								p.P191P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTAACGCCAATTAAATATC	0.398000													6	311					0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49430502	49430502	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:49430502G>A	ENST00000299191.3	+	4	680	c.563G>A	c.(562-564)cGc>cAc	p.R188H		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	188										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GCTTACGAACGCAAGCTAAAG	0.502000													18	46					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37199527	37199527	+	RNA	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:37199527C>T	ENST00000425901.2	+	0	2680					NR_033753.2																						AGTTTTTACACAAGTTGTAAG	0.373000													5	106					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76137079	76137079	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:76137079G>A	ENST00000318430.5	+	16	2441	c.2067G>A	c.(2065-2067)ccG>ccA	p.P689P	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Silent_p.P466P	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	689						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			ACCAGGCCCCGCGGCCGGGCC	0.751000													3	15					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171248916	171248916	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:171248916G>A	ENST00000334231.6	+	16	1729	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	MYO3B_ENST00000409044.3_Missense_Mutation_p.V568M|MYO3B_ENST00000408978.4_Missense_Mutation_p.V568M|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	568	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AACTGGAAGGGTGATGCACGA	0.408000													13	59					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167240158	167240158	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:167240158C>T	ENST00000308378.3	-	12	1968	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	WDR49_ENST00000453925.2_Missense_Mutation_p.D520N|WDR49_ENST00000476376.1_Missense_Mutation_p.D380N|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	555										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTGTTGGGTCTAAACAAGAT	0.308000													7	37					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79841447	79841447	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:79841447G>T	ENST00000360280.3	+	15	1550	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	VPS13A_ENST00000376634.4_Missense_Mutation_p.W430C|VPS13A_ENST00000376636.3_Missense_Mutation_p.W430C|VPS13A_ENST00000357409.5_Missense_Mutation_p.W430C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	430					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATAAAGGGTGGTTTAGCTGGC	0.323000													18	56					9.16793e-09	1.00123e-08	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971153	21971153	+	Nonsense_Mutation	SNP	C	C	A	rs121913383		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:21971153C>A	ENST00000304494.5	-	2	475	c.205G>T	c.(205-207)Gag>Tag	p.E69*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G124V|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G83V|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E18*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G83V|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E18*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	69			E -> G (found in some patients with melanoma; partial loss of CDK4 binding).|E -> K (in a bladder tumor).|E -> V (in a lung tumor).|Missing (in melanoma; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E69*(16)|p.E61fs*49(2)|p.E61fs*50(1)|p.R122fs*49(1)|p.E69K(1)|p.E61_L94del(1)|p.0(1)|p.E69fs*77(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.L65fs*77(1)|p.A68fs*3(1)|p.L63fs*75(1)|p.L64_E69>Q(1)|p.E69Q(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTTGGGCTCCGCGCCGTGG	0.711000	E69*(A375_SKIN)|E69*(CAL27_UPPER_AERODIGESTIVE_TRACT)|E69*(NCIH1975_LUNG)|E69*(SUIT2_PANCREAS)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			5	11					0.0215528	0.0218156	1	1	0
ECM1	1893	broad.mit.edu	37	1	150483467	150483467	+	Silent	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:150483467C>T	ENST00000369047.4	+	6	626	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Silent_p.F194F|ECM1_ENST00000346569.6_Silent_p.F167F	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	167	2 X approximate repeats.		F -> I (in LiP).		angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGGATGGCTTCCCCCCTGGGC	0.602000													5	277					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145187367	145187367	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:145187367G>A	ENST00000558170.2	-	3	1484	c.300C>T	c.(298-300)aaC>aaT	p.N100N	ZEB2_ENST00000539609.3_Silent_p.N100N|ZEB2_ENST00000409487.3_Silent_p.N100N|ZEB2_ENST00000303660.4_Silent_p.N100N	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	100						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GTAGAATCTCGTTGTTGTGCC	0.488000													10	49					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053214	11053214	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:11053214C>A	ENST00000295082.1	+	1	1152	c.662C>A	c.(661-663)aCg>aAg	p.T221K		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GAGCACCCGACGCTGGAGAAC	0.637000													6	62					0.0215528	0.0218156	1	1	0
HAAO	23498	broad.mit.edu	37	2	42995037	42995037	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:42995037C>T	ENST00000294973.6	-	8	717	c.662G>A	c.(661-663)gGc>gAc	p.G221D		NM_012205.2	NP_036337.2	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	221	Domain B (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						CTGTCTCAGGCCTTCGCTGCT	0.617000													21	96					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590457	140590457	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr5:140590457G>A	ENST00000239450.2	+	1	2167	c.1978G>A	c.(1978-1980)Gtg>Atg	p.V660M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.V323M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		660	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGCTGCACGTGCTCCTGGT	0.721000													23	79					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872846	137872846	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:137872846C>T	ENST00000409968.1	+	5	1530	c.1352C>T	c.(1351-1353)gCa>gTa	p.A451V	THSD7B_ENST00000413152.2_Missense_Mutation_p.A420V|THSD7B_ENST00000272643.3_Missense_Mutation_p.A451V|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GCAGCTGCCGCACTGAGGGCC	0.587000													6	22					0	0	1	0	0
DRC1	92749	broad.mit.edu	37	2	26667093	26667093	+	Silent	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:26667093G>A	ENST00000288710.2	+	9	1106	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2			dynein regulatory complex subunit 1 homolog (Chlamydomonas)																		CAACCAGCCTGCATGATATAC	0.423000													13	61					0	0	1	0	0
RBBP8NL	140893	broad.mit.edu	37	20	60986001	60986001	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr20:60986001G>T	ENST00000252998.1	-	14	2084	c.1928C>A	c.(1927-1929)cCc>cAc	p.P643H		NM_080833.2	NP_543023.2			RBBP8 N-terminal like																		TGGGCTCCCGGGCCCCTCAGT	0.657000													19	134					1.37522e-17	1.56361e-17	1	1	0
CHPF	79586	broad.mit.edu	37	2	220404590	220404590	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220404590C>T	ENST00000243776.6	-	4	2091	c.1843G>A	c.(1843-1845)Ggg>Agg	p.G615R	CHPF_ENST00000535926.1_Missense_Mutation_p.G453R	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	615						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GTGTCTGGCCCGGCCAGCAGG	0.617000													19	226					0	0	1	0	0
ZNF594	84622	broad.mit.edu	37	17	5086093	5086093	+	Missense_Mutation	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:5086093G>T	ENST00000399604.4	-	1	1599	c.1459C>A	c.(1459-1461)Ccc>Acc	p.P487T	ZNF594_ENST00000575779.1_Missense_Mutation_p.P487T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACTGATAGGGCTTCTCTCCA	0.453000													13	63					0.000151284	0.000163073	1	1	0
BMP3	651	broad.mit.edu	37	4	81967395	81967395	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr4:81967395G>A	ENST00000282701.2	+	2	1140	c.820G>A	c.(820-822)Gat>Aat	p.D274N		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	274					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCCAAATGGGATAGCCACAT	0.517000													19	105					0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10312110	10312110	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr3:10312110G>A	ENST00000287652.4	+	4	2295	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	TATDN2_ENST00000448281.2_Missense_Mutation_p.R415H|RP11-438J1.1_ENST00000450534.1_3'UTR	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	415						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.R415H(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						AGCCGGAGCCGCATGAGTGAT	0.567000													4	134					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			9	49					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49230810	49230810	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr12:49230810G>A	ENST00000308025.3	-	9	956	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	293						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACCTGGTGCCGTTCTTTGTAC	0.478000													5	395					0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220439713	220439713	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:220439713T>G	ENST00000243786.2	+	2	746	c.566T>G	c.(565-567)cTg>cGg	p.L189R	INHA_ENST00000489456.1_3'UTR	NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	189					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTCTCTCTGCTGACCCACCCC	0.682000													14	137					0	0	1	0	0
INVS	27130	broad.mit.edu	37	9	102866838	102866838	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr9:102866838C>T	ENST00000262457.2	+	2	220	c.35C>T	c.(34-36)tCa>tTa	p.S12L	INVS_ENST00000374921.3_Missense_Mutation_p.S12L|INVS_ENST00000460636.2_3'UTR|INVS_ENST00000262456.2_Missense_Mutation_p.S12L|INVS_ENST00000541287.1_5'UTR	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	12					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TTTGCTGGTTCATCATTAGCA	0.453000													6	36					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53563190	53563190	+	Missense_Mutation	SNP	T	T	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:53563190T>A	ENST00000342160.3	-	79	12906	c.12449A>T	c.(12448-12450)gAt>gTt	p.D4150V	HUWE1_ENST00000262854.6_Missense_Mutation_p.D4150V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4150	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGTGGTAATCTTCACTCTC	0.448000													12	24					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572282	38572282	+	Missense_Mutation	SNP	T	T	G			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr19:38572282T>G	ENST00000222345.6	+	3	586	c.77T>G	c.(76-78)cTc>cGc	p.L26R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	26					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGATGTCCTCCCTGGGCCA	0.677000													5	48					0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130910698	130910698	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:130910698G>A	ENST00000409031.1	-	19	3337	c.2189C>T	c.(2188-2190)cCg>cTg	p.P730L	SMPD4_ENST00000339679.7_Missense_Mutation_p.P588L|SMPD4_ENST00000351288.6_Missense_Mutation_p.P701L|SMPD4_ENST00000443958.2_Missense_Mutation_p.P394L|SMPD4_ENST00000426662.2_Missense_Mutation_p.P366L|SMPD4_ENST00000453750.1_Missense_Mutation_p.P479L|SMPD4_ENST00000452225.2_Missense_Mutation_p.P471L|SMPD4_ENST00000431183.2_Missense_Mutation_p.P628L	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	691					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CTGCAGCTCCGGGTCCCCCTG	0.572000													4	136					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12091374	12091374	+	Missense_Mutation	SNP	G	G	A	rs146889396		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr1:12091374G>A	ENST00000235332.4	+	9	1163	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.Q299Q	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	332										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GAAAAGCTCAGCCCCCAGGAA	0.602000													14	61					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85097533	85097533	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:85097533C>T	ENST00000335459.5	-	2	690	c.485G>A	c.(484-486)cGc>cAc	p.R162H	TRABD2A_ENST00000409520.2_Missense_Mutation_p.R162H|TRABD2A_ENST00000409133.1_Missense_Mutation_p.R162H	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		AGGCCTCTTGCGCTCCCAGTT	0.557000													4	160					0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67236795	67236795	+	Splice_Site	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:67236795G>T	ENST00000393997.2	+	16	1779	c.1721_splice	c.e16-1	p.L574_splice	ELMO3_ENST00000360833.1_Splice_Site_p.L557_splice|ELMO3_ENST00000477898.1_Splice_Site_p.L408_splice	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	521	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCTCTATCAGGGAGCTGCGGG	0.627000													9	54					0.000442599	0.000470971	1	1	0
PCP4	5121	broad.mit.edu	37	21	41300944	41300944	+	Missense_Mutation	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:41300944G>C	ENST00000328619.5	+	3	282	c.97G>C	c.(97-99)Gac>Cac	p.D33H	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	33					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				ATTTGACATTGACATGGATGC	0.463000													15	76					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137348	200137348	+	Silent	SNP	G	G	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:200137348G>T	ENST00000443023.1	-	10	3076	c.1611C>A	c.(1609-1611)ccC>ccA	p.P537P	SATB2_ENST00000428695.1_Silent_p.P478P|SATB2_ENST00000457245.1_Silent_p.P596P|SATB2_ENST00000417098.1_Silent_p.P596P|SATB2_ENST00000260926.5_Silent_p.P596P			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	596						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTTCTCTGGGAGGGGAAC	0.507000													17	95					6.33239e-15	7.10254e-15	1	1	0
TYW1	55253	broad.mit.edu	37	7	66548449	66548449	+	Missense_Mutation	SNP	G	G	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr7:66548449G>A	ENST00000359626.5	+	11	1471	c.1307G>A	c.(1306-1308)cGg>cAg	p.R436Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	436					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ACTGAGTGGCGGTGGAAGATG	0.433000													3	50					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50338857	50338857	+	Missense_Mutation	SNP	C	C	T			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr16:50338857C>T	ENST00000394697.2	+	12	1922	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	ADCY7_ENST00000566433.2_Missense_Mutation_p.R528W|ADCY7_ENST00000538642.1_Missense_Mutation_p.R528W|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.R528W			P51828	ADCY7_HUMAN	adenylate cyclase 7	528					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGCCACCGCCGGACCCCAGA	0.657000													6	89					0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27239675	27239675	+	Silent	SNP	G	G	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:27239675G>C	ENST00000577226.1	-	9	2260	c.1914C>G	c.(1912-1914)acC>acG	p.T638T	PHF12_ENST00000332830.4_Silent_p.T638T|PHF12_ENST00000268756.3_Silent_p.T638T|PHF12_ENST00000582655.1_5'UTR			Q96QT6	PHF12_HUMAN	PHD finger protein 12	638	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCAAAGTGCTGGTGTTCTCGA	0.577000													27	92					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31125264	31125264	+	Missense_Mutation	SNP	C	C	A			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr11:31125264C>A	ENST00000597505.1	-	12	1803	c.1804G>T	c.(1804-1806)Gcc>Tcc	p.A602S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TCACCTCTGGCAAATGCACTC	0.368000													13	68					2.32078e-09	2.56833e-09	1	1	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89102192	89102194	+	RNA	DEL	AAG	AAG	-			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:89102192_89102194delAAG	ENST00000393525.3	+	0	2666_2668																											GTTTAATAATAAGGTGATTTGTA	0.330													3	6	---	---	---	---					
HTR2B	3357	broad.mit.edu	37	2	231973926	231973927	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr2:231973926_231973927delCT	ENST00000258400.3	-	4	1262_1263	c.750_751delAG	c.(748-753)tttcfs	p.LV250fs	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	250					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	TTGTTTTTGACTAAGTAAGCCT	0.450													10	79	---	---	---	---					
BCAS3	54828	broad.mit.edu	37	17	59465981	59465981	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr17:59465981delA	ENST00000589222.1	+	25	2730	c.2662delA	c.(2662-2664)aafs	p.K890fs	BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000588462.1_Intron|BCAS3_ENST00000585812.1_Intron|BCAS3_ENST00000585744.1_Intron|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000408905.3_Intron			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TTCAAAAGGGAAAAAAAAAGG	0.443													2	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:11085863_11085864insC	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)		catcaccaccaccaccatcacc	0.579													3	6	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													3	3	---	---	---	---					
ZNF275	10838	broad.mit.edu	37	X	152621392	152621392	+	RNA	DEL	G	G	-			TCGA-QK-A652-01A-11D-A30E-08	TCGA-QK-A652-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e498dd3-d4df-44f1-85f6-d3cb1071f044	f96f56e5-009b-4478-99e3-f9158aac56a7	g.chrX:152621392delG	ENST00000438239.1	+	0	113																											TGGTGCACTTGGAGGATTCTG	0.602													2	4	---	---	---	---					
