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
CES3	23491	broad.mit.edu	37	16	66997082	66997082	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr16:66997082G>A	ENST00000303334.4	+	2	154	c.82_splice	c.e2-1	p.G28_splice	CES3_ENST00000394037.1_Splice_Site_p.G28_splice|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	28						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTTCCCTCAGGGCCCGAAGTT	0.587000													10	48					0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113082076	113082076	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:113082076C>T	ENST00000393845.2	-	21	2916	c.2850G>A	c.(2848-2850)gaG>gaA	p.E950E	WDR52_ENST00000295868.2_Silent_p.E950E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	950										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTGATTTGCTCTCTCTTCC	0.318000													27	154					0	0	1	0	0
ICOS	29851	broad.mit.edu	37	2	204821450	204821450	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:204821450A>G	ENST00000316386.6	+	3	530	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ICOS_ENST00000435193.1_Missense_Mutation_p.I155V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	155					immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TGTAGTCTGCATTTTGGGATG	0.373000													15	206					0	0	1	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270778	97270778	+	Silent	SNP	T	T	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:97270778T>G	ENST00000523821.1	-	2	260	c.141A>C	c.(139-141)atA>atC	p.I47I	MTERFD1_ENST00000287025.3_Silent_p.I47I			Q96E29	MTER1_HUMAN	MTERF domain containing 1	47					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGTCAGAGGATATCTGAGGCT	0.428000													4	189					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46940298	46940298	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:46940298G>A	ENST00000449590.1	+	9	988	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PTH1R_ENST00000313049.5_Missense_Mutation_p.R262H|PTH1R_ENST00000418619.1_Missense_Mutation_p.R262H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R262H	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	262						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						GAGGAGCTGCGCGCCATCGCC	0.716000													3	15					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													5	119					0	0	1	0	0
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:248367166G>A	ENST00000456743.1	+	1	835	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502000													88	172					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35896092	35896092	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:35896092C>T	ENST00000339208.6	-	19	3795	c.3655G>A	c.(3655-3657)Gcc>Acc	p.A1219T	SYNRG_ENST00000346661.4_Missense_Mutation_p.A1219T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A1013T|SYNRG_ENST00000502449.2_Missense_Mutation_p.A1096T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A1141T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A1140T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A1141T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1219					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGAGTGTGGCGAGTGACATG	0.443000													12	68					0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23017160	23017160	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:23017160A>G	ENST00000255008.3	+	1	1104	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	347					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGACTACTATGCCACTGCT	0.642000													10	37					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575583	179575583	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:179575583G>A	ENST00000589042.1	-	98	28465	c.28241C>T	c.(28240-28242)gCt>gTt	p.A9414V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9097V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A8170V|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9097	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAAAGTCAGCACTTTCTCC	0.502000													18	92					0	0	1	0	0
AQPEP	0	broad.mit.edu	37	5	115327923	115327923	+	Silent	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:115327923A>G	ENST00000357872.4	+	5	1333	c.1209A>G	c.(1207-1209)acA>acG	p.T403T	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		403					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATCAACTGACAGAAAAAAAGA	0.383000													8	191					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33689956	33689956	+	Missense_Mutation	SNP	G	G	A	rs114962374	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:33689956G>A	ENST00000394566.1	-	4	1143	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R291C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	291						nucleus	ATP binding	p.R291C(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTATCGGGCGTTGGGGTTGG	0.423000													11	240					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45002149	45002149	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:45002149G>A	ENST00000372176.1	-	16	1509	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ELMO2_ENST00000445496.2_Silent_p.H252H|ELMO2_ENST00000454865.2_Silent_p.H167H|ELMO2_ENST00000290246.6_Silent_p.H435H|ELMO2_ENST00000352077.2_Silent_p.H433H|ELMO2_ENST00000439931.2_Silent_p.H447H|ELMO2_ENST00000396391.1_Silent_p.H435H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	435	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGAACATCGGGTGGTAGTCAT	0.498000													10	41					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848238	73848238	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:73848238G>A	ENST00000523207.1	+	3	1236	c.648G>A	c.(646-648)ccG>ccA	p.P216P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	216					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P216P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATACGCTGCCGGAGCTGCAGG	0.473000													5	171					0	0	1	0	0
PKIB	0	broad.mit.edu	37	6	123038935	123038935	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:123038935T>C	ENST00000258014.3	+	4	176	c.17T>C	c.(16-18)gTt>gCt	p.V6A	PKIB_ENST00000368446.1_Missense_Mutation_p.V8A|PKIB_ENST00000392490.1_5'UTR|PKIB_ENST00000392491.2_5'UTR|PKIB_ENST00000354275.2_5'UTR|PKIB_ENST00000368452.2_5'UTR|PKIB_ENST00000368448.1_5'UTR	NM_001270395.1	NP_001257324.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	0							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TTTGTAGATGTTGCTATGAGG	0.448000													119	251					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229828	21229828	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:21229828C>T	ENST00000233242.1	-	26	10039	c.9912G>A	c.(9910-9912)ctG>ctA	p.L3304L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3304					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)	GAAGGACTGGCAGCTCTAATG	0.433000													20	62					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64939753	64939753	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:64939753G>A	ENST00000377185.2	+	4	377	c.295G>A	c.(295-297)Gcc>Acc	p.A99T		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	99	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTTCCAGCGCGCCCACCTGAA	0.602000													12	113					0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21492112	21492112	+	Silent	SNP	G	G	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:21492112G>C	ENST00000356929.3	-	3	359	c.162C>G	c.(160-162)acC>acG	p.T54T		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCCAGACAGGTGATCAGGT	0.408000													5	248					0	0	1	0	0
SPINT1	6692	broad.mit.edu	37	15	41145414	41145414	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr15:41145414C>T	ENST00000344051.4	+	3	802	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SPINT1_ENST00000562057.1_Missense_Mutation_p.R190C|SPINT1_ENST00000431806.1_Missense_Mutation_p.R190C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CACAGATTGGCGCCTACTGCG	0.617000													5	84					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:16902242G>A	ENST00000524140.2	+	14	3440	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000339803.6_Missense_Mutation_p.V873M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGCATGGCCGTGCTGGCCTC	0.517000													5	127					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								38	72					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192214945	192214945	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:192214945A>C	ENST00000392318.3	+	7	803	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	MYO1B_ENST00000339514.4_Missense_Mutation_p.S186R|MYO1B_ENST00000392316.1_Missense_Mutation_p.S186R|MYO1B_ENST00000304164.4_Missense_Mutation_p.S186R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	186	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGGAGTAATAAGTAACTGTGA	0.313000													18	42					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178373365	178373365	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:178373365G>A	ENST00000320129.3	+	3	342	c.39G>A	c.(37-39)tcG>tcA	p.S13S	ZNF454_ENST00000519564.1_Silent_p.S13S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S13S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		TGCAGGAATCGGTGACCTTCA	0.567000													27	73					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100680279	100680279	+	Missense_Mutation	SNP	C	C	T	rs147735350		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:100680279C>T	ENST00000306151.4	+	3	5646	c.5582C>T	c.(5581-5583)aCg>aTg	p.T1861M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1861	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCAACCTCAACGCCTAGTGAA	0.488000													6	425					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388000													6	480					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943529	72943529	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:72943529C>A	ENST00000328801.4	+	6	1579	c.1579C>A	c.(1579-1581)Ctc>Atc	p.L527I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	527						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCGGAGGGCACTCAAGGAGAT	0.617000													11	42					0.000151284	0.000156993	1	1	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	16					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334631	69334631	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:69334631A>G	ENST00000305363.4	+	4	357	c.293A>G	c.(292-294)gAa>gGa	p.E98G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	98	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCATTAAGGGAAGAATTTGTC	0.294000													69	138					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99160934	99160934	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr10:99160934T>C	ENST00000370992.4	-	1	166	c.55A>G	c.(55-57)Aag>Gag	p.K19E	RRP12_ENST00000315563.6_Missense_Mutation_p.K19E|RRP12_ENST00000414986.1_Missense_Mutation_p.K19E|RP11-452K12.7_ENST00000422848.1_RNA	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	19						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGCCTTTCTTCCAGCGCTTC	0.607000													27	56					0	0	1	0	0
GMPR2	51292	broad.mit.edu	37	14	24707597	24707597	+	Silent	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr14:24707597C>T	ENST00000557854.1	+	8	1174	c.897C>T	c.(895-897)ggC>ggT	p.G299G	GMPR2_ENST00000399440.2_Silent_p.G281G|GMPR2_ENST00000559910.1_Silent_p.G248G|GMPR2_ENST00000420554.2_Silent_p.G299G|GMPR2_ENST00000559836.1_Silent_p.G281G|GMPR2_ENST00000559104.1_Silent_p.G266G|GMPR2_ENST00000456667.3_Silent_p.G253G|GMPR2_ENST00000348719.7_Silent_p.G281G|GMPR2_ENST00000355299.4_Silent_p.G281G			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	281					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ATGCTGGGGGCGTGGCTGAGT	0.507000													11	85					0	0	1	0	0
RPL39P5	0	broad.mit.edu	37	3	134070869	134070869	+	RNA	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:134070869C>T	ENST00000273411.2	-	0	273																											GGGAATGGGACGATTTTGCTT	0.433000													6	107					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	60					0	0	1	0	0
RMST	0	broad.mit.edu	37	12	97885714	97885714	+	RNA	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr12:97885714T>C	ENST00000538559.2	+	0	953				MIR1251_ENST00000408552.2_RNA																							AAGGCGCTTCTCCTTCTGAAC	0.458000													29	20					0	0	1	0	0
PMPCB	9512	broad.mit.edu	37	7	102949430	102949430	+	Missense_Mutation	SNP	C	C	T	rs142471700	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:102949430C>T	ENST00000249269.4	+	8	919	c.881C>T	c.(880-882)gCg>gTg	p.A294V	PMPCB_ENST00000420236.2_Missense_Mutation_p.A189V|PMPCB_ENST00000428154.1_Missense_Mutation_p.A294V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	294					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCCTTTGGCGCACCTTGCA	0.423000													4	126					0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10787958	10787958	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:10787958G>A	ENST00000361367.2	+	13	2033	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	536					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCTATTTGCGCCTAGGAGCC	0.308000													19	64					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162680611	162680611	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:162680611A>G	ENST00000306100.5	-	6	1115	c.679T>C	c.(679-681)Ttt>Ctt	p.F227L	FSTL5_ENST00000427802.2_Missense_Mutation_p.F226L|FSTL5_ENST00000379164.4_Missense_Mutation_p.F226L|FSTL5_ENST00000536695.1_Missense_Mutation_p.F226L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	227	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGCATTAAAATCATCATAT	0.338000													12	66					0	0	1	0	0
C7orf26	79034	broad.mit.edu	37	7	6631413	6631413	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:6631413G>A	ENST00000344417.5	+	2	596	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	C7orf26_ENST00000359073.5_Missense_Mutation_p.R91Q|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	110										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GATGACAGCCGGATGAGCTTG	0.507000													4	137					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577572T>C	ENST00000420246.2	-	7	841	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)		CTGTTACACATGTAGTTGTAG	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	46					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539876	56539876	+	Splice_Site	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:56539876G>A	ENST00000390649.3	+	7	2276		c.e7+1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCTCTATGGTGAGTACCCC	0.527000													5	170					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220345393	220345393	+	Splice_Site	SNP	T	T	C			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:220345393T>C	ENST00000358951.2	-	23	2533		c.e23-2			NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CGATGGCCACTATAGGGATAG	0.423000													4	49					0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2933587	2933587	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:2933587G>A	ENST00000314531.4	-	4	1630	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTTCTCACGTG	0.502000													6	132					0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5701232	5701232	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:5701232C>T	ENST00000305836.5	-	2	478	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	TRIM5_ENST00000380027.1_Missense_Mutation_p.R59Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.R59Q|TRIM5_ENST00000396855.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000380034.3_Missense_Mutation_p.R59Q			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTAACTGATCCGGCACACAGG	0.547000													4	86					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			4	8					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033275	41033275	+	Silent	SNP	G	G	A			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr21:41033275G>A	ENST00000380620.3	+	5	1381	c.789G>A	c.(787-789)caG>caA	p.Q263Q	B3GALT5_ENST00000380618.1_Silent_p.Q263Q|B3GALT5_ENST00000398714.2_Silent_p.Q263Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.Q263Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	263					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCACTCCCAGCCGACCTTTT	0.542000													8	128					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24656904	24656904	+	RNA	SNP	C	C	T			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr22:24656904C>T	ENST00000414583.2	+	0	1977					NR_003714.1																						GCTGTTTCAACGCCACCACCA	0.602000													3	18					0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060266	128060266	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:128060266delG	ENST00000254730.6	+	5	1031	c.977delG	c.(976-978)cgfs	p.R326fs	EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.R271fs|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	326						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.R326L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGTATTTCCGGGGGCCCCTG	0.557													24	56	---	---	---	---					
NREP	9315	broad.mit.edu	37	5	111091466	111091483	+	Translation_Start_Site	DEL	CCATTTTGAGAATCTTAG	CCATTTTGAGAATCTTAG	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:111091466_111091483delCCATTTTGAGAATCTTAG	ENST00000379671.3	-	0	251_268				NREP_ENST00000509427.1_Start_Codon_Del|NREP_ENST00000450761.2_Start_Codon_Del|NREP_ENST00000455559.2_Start_Codon_Del|NREP_ENST00000507742.1_Intron|NREP_ENST00000419114.2_Start_Codon_Del|NREP_ENST00000446294.2_Start_Codon_Del|NREP_ENST00000395634.3_Intron|NREP_ENST00000508870.1_Start_Codon_Del|NREP_ENST00000515855.1_Start_Codon_Del|NREP_ENST00000509979.1_Start_Codon_Del|NREP_ENST00000509025.1_Start_Codon_Del|NREP_ENST00000453526.2_Start_Codon_Del|NREP_ENST00000447165.2_Start_Codon_Del|NREP_ENST00000257435.7_Start_Codon_Del	NM_001142478.1	NP_001135950.1	Q16612	NP311_HUMAN	neuronal regeneration related protein							cytoplasm											CCAAGTCTTACCATTTTGAGAATCTTAGTCTTGGGCTT	0.431													42	143	---	---	---	---					
FIBCD1	84929	broad.mit.edu	37	9	133779457	133779469	+	Frame_Shift_Del	DEL	GTCCTCCCGGACC	GTCCTCCCGGACC	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr9:133779457_133779469delGTCCTCCCGGACC	ENST00000372338.4	-	7	1610_1622	c.1368_1380delGGTCCGGGAGGAC	c.(1366-1380)ccfs	p.PVRED456fs	FIBCD1_ENST00000253018.4_Splice_Site_p.A158_splice|FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.PVRED456fs|FIBCD1_ENST00000372337.2_Frame_Shift_Del_p.PVRED298fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	456	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGTCTAGCGGTCCTCCCGGACCGGCCGGATCT	0.643													11	23	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr13:25525716delA	ENST00000429698.1	-	0	282																											TGGAAGAAACAAAAAAAAGAA	0.383													3	6	---	---	---	---					
SLC52A3	113278	broad.mit.edu	37	20	742302	742302	+	Frame_Shift_Del	DEL	G	G	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:742302delG	ENST00000381944.3	-	4	1481	c.1240delC	c.(1240-1242)acfs	p.H414fs	SLC52A3_ENST00000217254.7_Intron|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	0					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GGCTAGGGGTGAGGGGTACGC	0.706													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938484	76938484	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chrX:76938484delT	ENST00000373344.5	-	9	2478	c.2264delA	c.(2263-2265)atfs	p.N755fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.N717fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	755					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATGAATTTCATTAATATCAGT	0.368			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						192	69	---	---	---	---