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
ATP8B2	57198	broad.mit.edu	37	1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:154303605G>T	ENST00000368489.3	+	5	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	115					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGTTAAAGATGCCACTGA	0.488													21	40	---	---	---	---
XCL1	6375	broad.mit.edu	37	1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:168549329G>C	ENST00000367818.3	+	2	255	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	30					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGATAAGAGGACCTGTGTGA	0.458													19	71	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183207488C>T	ENST00000264144.4	+	19	2866	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	934	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAAGCAGAGCACAAGAAGCA	0.418													37	109	---	---	---	---
APOB	338	broad.mit.edu	37	2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr2:21252827C>T	ENST00000233242.1	-	11	1540	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	APOB_ENST00000399256.4_Missense_Mutation_p.M471I	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	471	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAATCTGTTCCATCAGGTAAT	0.428													11	131	---	---	---	---
TBC1D5	9779	broad.mit.edu	37	3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:17279892G>A	ENST00000253692.7	-	17	3015	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	451						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATATTCAGGGGAGCACCTTTG	0.388													12	46	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125824675	125824675	+	Silent	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:125824675G>A	ENST00000393434.2	-	22	2896	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1_ENST00000472186.1_Silent_p.V849V|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.V859V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	849	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGTCACTGACATACAGGG	0.552													5	177	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48352729	48352729	+	Silent	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48352729C>T	ENST00000435803.1	+	25	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3194					transport	integral to membrane	ATP binding|ATPase activity	p.S3139S(1)|p.S3194S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGCCTCAGCGCCTTGCTTG	0.433													10	18	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143632698	143632698	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:143632698G>A	ENST00000408955.2	+	1	440	c.373G>A	c.(373-375)Gct>Act	p.A125T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCGCCATGTGGCTGTGTCTGA	0.557													35	89	---	---	---	---
LRRC61	65999	broad.mit.edu	37	7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:150034141C>T	ENST00000359623.4	+	3	779	c.191C>T	c.(190-192)gCg>gTg	p.A64V	LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	64										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGGCAACGCGCTCACCCAC	0.652													4	114	---	---	---	---
ELAVL2	1993	broad.mit.edu	37	9	23731123	23731123	+	Splice_Site	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:23731123C>G	ENST00000397312.2	-	3	504	c.230G>C	c.(229-231)gGg>gCg	p.G77A	ELAVL2_ENST00000223951.6_Splice_Site_p.G77A|ELAVL2_ENST00000380117.1_Splice_Site_p.G77A|ELAVL2_ENST00000544538.1_Splice_Site_p.G77A|ELAVL2_ENST00000380110.4_Splice_Site_p.G106A	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	77	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGCTCTGCCCTAATGAAAA	0.393													17	28	---	---	---	---
C9orf172	389813	broad.mit.edu	37	9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:139740894G>T	ENST00000436881.1	+	1	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	676										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGACCATGTTCAACGCCT	0.692													3	48	---	---	---	---
SEC31B	25956	broad.mit.edu	37	10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:102248628G>T	ENST00000370345.3	-	24	3372	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1092					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCAGTTGCAGACAGGGAGCA	0.577													35	62	---	---	---	---
PDXDC2P	283970	broad.mit.edu	37	16	70057560	70057560	+	RNA	SNP	A	A	C			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr16:70057560A>C	ENST00000531894.1	-	0	1005					NR_003610.1																						CATAACCCAGAGCCAATGTTG	0.353													60	74	---	---	---	---
TMEM102	284114	broad.mit.edu	37	17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7340279G>T	ENST00000323206.1	+	3	1254	c.981G>T	c.(979-981)tgG>tgT	p.W327C	RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	327					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCGGGCTGGCCCGAGGGGG	0.726													3	18	---	---	---	---
COASY	80347	broad.mit.edu	37	17	40717505	40717505	+	Silent	SNP	G	G	T			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:40717505G>T	ENST00000393818.2	+	7	1860	c.1404G>T	c.(1402-1404)gtG>gtT	p.V468V	COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000449624.1_Silent_p.V173V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000420359.1_Silent_p.V468V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	468	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTGTGTGTGATTGATGCCG	0.612													17	49	---	---	---	---
MRPL54	116541	broad.mit.edu	37	19	3762707	3762707	+	Silent	SNP	C	C	G			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:3762707C>G	ENST00000330133.4	+	1	46	c.9C>G	c.(7-9)acC>acG	p.T3T		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	3						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGACCAAACGCCTTT	0.632													37	105	---	---	---	---
WDR83	84292	broad.mit.edu	37	19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12780860C>A	ENST00000418543.3	+	4	522	c.173C>A	c.(172-174)aCg>aAg	p.T58K	WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.T58K	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	58					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CTTCGGGGGACGCTGCTGCGG	0.677													3	75	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140453122	140453133	+	In_Frame_Del	DEL	TCCATCGAGATT	TCCATCGAGATT	-	rs121913365		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:140453122_140453133delTCCATCGAGATT	ENST00000288602.6	-	15	1862_1873	c.1802_1813delAATCTCGATGGA	c.(1801-1815)aaatctcgatggagt>agt	p.KSRW601del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGGGACCCACTCCATCGAGATTTCACTGTAGC	0.382	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	93	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7578222_7578223delTC	ENST00000420246.2	-	6	758_759	c.626_627delGA	c.(625-627)agafs	p.R209fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (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.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(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)		GAAAAGTGTTTCTGTCATCCAA	0.535		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)			40	42	---	---	---	---
