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
RBMS3	27303	broad.mit.edu	37	3	29323193	29323193	+	Silent	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:29323193G>A	uc003cel.3	+	0	391	c.21G>A	c.(19-21)caG>caA	p.Q7Q	RBMS3_uc010hfq.3_Silent_p.Q7Q|RBMS3_uc003cek.3_Silent_p.Q7Q|RBMS3_uc010hfr.3_Silent_p.Q7Q|RBMS3_uc003cem.3_Silent_p.Q7Q	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	7						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCCTGGATCAGCCACAAATGT	0.522000													9	67					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49070172	49070172	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:49070172T>C	uc010hkq.3	-	8	2226	c.1930A>G	c.(1930-1932)Aag>Gag	p.K644E	QRICH1_uc003cvu.3_Missense_Mutation_p.K644E|QRICH1_uc003cvv.3_Missense_Mutation_p.K644E	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	644										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAGGCCAGCTTCATGTGCTGG	0.502000													22	100					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7577117A>C	uc002gim.2	-	7	1015	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.V274G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V142G|TP53_uc010cnf.1_Missense_Mutation_p.V142G|TP53_uc002gii.1_Missense_Mutation_p.V142G|TP53_uc010cni.1_Missense_Mutation_p.V274G|TP53_uc010cnh.1_Missense_Mutation_p.V274G|TP53_uc002gij.2_Missense_Mutation_p.V274G|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(519)|p.R273C(471)|p.R273L(92)|p.V274A(35)|p.R273P(31)|p.V274F(19)|p.V274D(17)|p.V274G(15)|p.R273S(14)|p.V274L(10)|p.R273G(9)|p.0?(8)|p.V274I(4)|p.R273fs*72(3)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.R273fs*33(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.V274fs*71(1)|p.R273R(1)|p.R273fs*71(1)|p.R273fs*32(1)|p.E271_R273delEVR(1)|p.S269fs*21(1)|p.R273*(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)		ACAGGCACAAACACGCACCTC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	42					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839768	62839768	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:62839768C>T	uc002yii.3	+	6	1583	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Nonsense_Mutation_p.Q39*	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	407					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGCAGAGCCAGCTGGGCCT	0.672000													18	45					0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112278	112112278	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr7:112112278G>A	uc003vgh.3	+	10	1516	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	IFRD1_uc011kmn.2_Missense_Mutation_p.R299Q|IFRD1_uc003vgj.3_Missense_Mutation_p.R349Q|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.R299Q|IFRD1_uc003vgk.3_Missense_Mutation_p.R66Q	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	349					multicellular organismal development|myoblast cell fate determination		binding	p.E348G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GGTTAGGAACGGGATTTTCCA	0.383000													18	67					0	0	1	0	0
SHKBP1	92799	broad.mit.edu	37	19	41094661	41094661	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:41094661G>A	uc002oob.3	+	13	1517	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	SHKBP1_uc002ooc.3_Missense_Mutation_p.G465S|SHKBP1_uc010xvl.1_Missense_Mutation_p.G413S|SHKBP1_uc002ooe.3_Missense_Mutation_p.G327S|SHKBP1_uc010xvm.2_Missense_Mutation_p.G270S|SHKBP1_uc010xvn.2_Missense_Mutation_p.G368S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	490						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G490S(2)|p.G489G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCATGGCGGCTGCAGTGC	0.617000													9	63					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	rs146400394		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:36333388C>T	uc002oby.3	-	17	2555	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	800	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R800H(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607000													15	92					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	311414	311414	+	RNA	SNP	T	T	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrGL000192.1:311414T>C	uc010yij.1	-	6		c.955A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CGTATTTCTGTACAGTGTTGG	0.532000													4	41					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143960802	143960802	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr8:143960802G>T	uc010mey.3	-	1	341	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.S112I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGCGAGCTGGGATTTGCTCTG	0.602000									Familial Hyperaldosteronism type I				8	36					2.74318e-10	2.83167e-10	1	1	0
BPIFC	254240	broad.mit.edu	37	22	32833775	32833775	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:32833775G>C	uc003amn.2	-	6	719	c.719C>G	c.(718-720)aCt>aGt	p.T240S	BPIFC_uc010gwo.2_Missense_Mutation_p.T54S|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	240						extracellular region	lipopolysaccharide binding|phospholipid binding										GTAGTTCTCAGTAATTTCTGG	0.358000													8	29					0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44118317	44118317	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:44118317C>T	uc003owr.3	+	17	1688	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	TMEM63B_uc003ows.3_Missense_Mutation_p.R445C|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	542						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTCTTCTTCCGCTGGCTCTT	0.572000													17	71					0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21938253	21938253	+	RNA	SNP	G	G	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr15:21938253G>C	uc010tzj.1	-	0		c.2487C>G								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		caatggaacagaacagagccc	0.463000													4	50					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								14	80					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151338256	151338256	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:151338256G>C	uc010pcy.2	-	7	1166	c.1036C>G	c.(1036-1038)Ccc>Gcc	p.P346A	SELENBP1_uc001exx.3_Missense_Mutation_p.P304A|SELENBP1_uc010pcz.2_Missense_Mutation_p.P242A|SELENBP1_uc001eya.3_Missense_Mutation_p.P240A	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	304					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCATTTCGGGCAGCAGCCAG	0.577000													11	275					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069212	153069212	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:153069212C>T	uc004fja.1	-	7	2174	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PDZD4_uc004fiy.1_Missense_Mutation_p.V561M|PDZD4_uc004fiz.1_Missense_Mutation_p.V636M|PDZD4_uc004fix.2_Missense_Mutation_p.V540M|PDZD4_uc011mze.1_Missense_Mutation_p.V527M|PDZD4_uc022chy.1_Missense_Mutation_p.V15M	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	636						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTGGCCACGTAGCGGGTT	0.701000													8	150					0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24622165	24622165	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:24622165C>A	uc002zzp.4	-	7	1525	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y	GGT5_uc002zzo.4_Missense_Mutation_p.D370Y|GGT5_uc002zzr.4_Missense_Mutation_p.D338Y|GGT5_uc002zzq.4_Missense_Mutation_p.D338Y|GGT5_uc011ajm.2_Missense_Mutation_p.D293Y|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	370					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGCTGGTGGTCCCCCCGGCCA	0.697000													10	45					0.00136819	0.00136819	1	1	0
VSIG4	11326	broad.mit.edu	37	X	65253439	65253439	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:65253439A>G	uc004dwh.2	-	1	416	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	VSIG4_uc004dwi.2_Missense_Mutation_p.S97P|VSIG4_uc004dwj.3_Missense_Mutation_p.S97P|VSIG4_uc011moy.2_Missense_Mutation_p.S97P	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	97	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATTGGAGGGATACATCTCCT	0.537000													9	205					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7578212G>A	uc002gim.2	-	5	831	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			6	35					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319342	3319342	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr4:3319342G>A	uc003ggw.3	+	1	2349	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	RGS12_uc003ggu.2_Missense_Mutation_p.G482E|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.G482E|RGS12_uc003ggx.1_Missense_Mutation_p.G482E	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	482						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACCCCGAAGGGAGCCCCCCA	0.677000													26	120					0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr15:22473333A>G	uc001yuj.2	-	5		c.78T>C								Parts of antibodies, mostly variable regions.																		CCAGGAGGAGAAAGAACCACA	0.512000													5	86					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76931745	76931745	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:76931745T>C	uc004ecp.4	-	9	4017	c.3785A>G	c.(3784-3786)gAt>gGt	p.D1262G	ATRX_uc004ecq.4_Missense_Mutation_p.D1224G|ATRX_uc004eco.4_Missense_Mutation_p.D1047G|ATRX_uc004ecr.2_Missense_Mutation_p.D1194G	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1262	Poly-Asp.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTGTCGTCATCATCATCATC	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						6	93					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2840757	2840759	+	In_Frame_Del	DEL	ATA	ATA	-			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:2840757_2840759delATA	uc002whe.3	+	2	248_250	c.200_202delATA	c.(199-204)gatata>gta	p.67_68DI>V	VPS16_uc002whf.3_In_Frame_Del_p.67_68DI>V|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	67					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome		p.D67N(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCAGTGCTCGATATATACTCTGC	0.591													22	88	---	---	---	---					
