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
OR4A5	81318	broad.mit.edu	37	11	51411626	51411626	+	Missense_Mutation	SNP	C	C	G			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:51411626C>G	ENST00000319760.6	-	1	822	c.770G>C	c.(769-771)aGa>aCa	p.R257T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAACAGGTCTAACATATAT	0.388000													14	25					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423000													17	81					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587000													16	31					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072126	9072126	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:9072126G>C	ENST00000397910.4	-	3	15523	c.15320C>G	c.(15319-15321)aCt>aGt	p.T5107S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5109	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T5107N(2)|p.T740N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTTTAGAAGTGGCCAGTAT	0.423000													13	58					0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46111991	46111991	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:46111991G>A	ENST00000374366.3	-	11	2320	c.1855C>T	c.(1855-1857)Cgt>Tgt	p.R619C	ZFAND4_ENST00000374371.2_3'UTR|ZFAND4_ENST00000344646.5_Missense_Mutation_p.R693C|ZFAND4_ENST00000374370.1_5'UTR	NM_001282905.1|NM_001282906.1	NP_001269834.1|NP_001269835.1	Q86XD8	ANUB1_HUMAN	zinc finger, AN1-type domain 4	693							zinc ion binding										TCTGCATAACGATGAGATGCA	0.423000													13	61					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804618	27804618	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:27804618C>T	ENST00000408964.2	+	1	5230	c.5179C>T	c.(5179-5181)Cgc>Tgc	p.R1727C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562000													82	112					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22086787	22086787	+	Silent	SNP	C	C	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:22086787C>A	ENST00000261200.4	-	2	212	c.213G>T	c.(211-213)ctG>ctT	p.L71L	ABCC9_ENST00000345162.2_Silent_p.L71L|ABCC9_ENST00000261201.4_Silent_p.L71L|ABCC9_ENST00000326684.4_Silent_p.L71L|ABCC9_ENST00000538350.1_Silent_p.L71L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	71					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GAATCCATCTCAGGTTATGTC	0.398000													5	69					2.7689e-08	2.84581e-08	1	1	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	A	G	rs60608267	by1000genomes	TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:132547093A>G	ENST00000333577.4	+	48	8398	c.8289A>G	c.(8287-8289)caA>caG	p.Q2763Q	EP400_ENST00000330386.6_Silent_p.Q2646Q|EP400_ENST00000389562.2_Silent_p.Q2726Q|EP400_ENST00000332482.4_Silent_p.Q2690Q|EP400_ENST00000389561.2_Silent_p.Q2727Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000													7	36					0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45937118	45937118	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:45937118A>T	ENST00000348697.2	+	9	1079	c.932A>T	c.(931-933)gAg>gTg	p.E311V	FBLN1_ENST00000442170.2_Missense_Mutation_p.E311V|FBLN1_ENST00000327858.6_Missense_Mutation_p.E311V|FBLN1_ENST00000402984.3_Missense_Mutation_p.E349V|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E311V|FBLN1_ENST00000340923.5_Missense_Mutation_p.E311V			P23142	FBLN1_HUMAN	fibulin 1	311	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GATATCAATGAGTGTTTGAGT	0.527000													8	58					0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000544007.1_Intron|G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274000													8	18					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877893	130877893	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:130877893G>A	ENST00000357462.5	-	1	289	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	POTEF_ENST00000409914.2_Missense_Mutation_p.R66C|POTEF_ENST00000361163.4_Missense_Mutation_p.R66C|POTEF_ENST00000360967.5_Missense_Mutation_p.R66C			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	66						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AAGCAGTGGCGGCACCACTTG	0.602000													4	117					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	282295	282295	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:282295G>A	ENST00000269812.3	-	5	605	c.556C>T	c.(556-558)Cga>Tga	p.R186*	PPAP2C_ENST00000434325.2_Nonsense_Mutation_p.R130*|PPAP2C_ENST00000327790.3_Nonsense_Mutation_p.R207*	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	186					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAGAGTCGTGCCTGCACA	0.617000													4	41					0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	144008083	144008083	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:144008083A>G	ENST00000295095.6	+	6	555	c.388A>G	c.(388-390)Act>Gct	p.T130A		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	130	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATTACAGAAAACTGGGCACAA	0.368000													3	24					0	0	1	0	0
GPER1	2852	broad.mit.edu	37	7	1131651	1131651	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:1131651T>C	ENST00000397092.1	+	3	1171	c.287T>C	c.(286-288)cTg>cCg	p.L96P	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000488073.1_Intron|GPER1_ENST00000397088.3_Missense_Mutation_p.L96P|GPER1_ENST00000401670.1_Missense_Mutation_p.L96P|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000357429.6_Intron|GPER1_ENST00000297469.3_Missense_Mutation_p.L96P	NM_001039966.1	NP_001035055.1			G protein-coupled estrogen receptor 1	96																	ATCCCCGACCTGTACTTCATC	0.577000													8	24					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136723	90136723	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:90136723T>A	ENST00000405460.2	+	78	17036	c.16940T>A	c.(16939-16941)gTg>gAg	p.V5647E	GPR98_ENST00000425867.2_Missense_Mutation_p.V1308E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5647					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTCAACAGAGTGCTCCATACC	0.428000													4	29					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								31	41					0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116692128	116692128	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:116692128C>T	ENST00000357780.3	-	3	760	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGCTCCTCCACGGTCTGGTCA	0.592000													5	180					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76909614	76909614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:76909614G>A	ENST00000373344.5	-	14	4505	c.4291C>T	c.(4291-4293)Caa>Taa	p.Q1431*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1431					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)	GAATCTTCTTGAACCTTAATA	0.353000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						25	10					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139135697	139135697	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:139135697T>C	ENST00000423192.1	+	3	297	c.136T>C	c.(136-138)Ttc>Ctc	p.F46L	ECT2L_ENST00000541398.1_5'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.F46L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	46					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ACGTCAAGAATTCTTATTCGC	0.348000			"""N, Splice, Mis"""		ETP ALL								4	16					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195511142	195511142	+	Missense_Mutation	SNP	T	T	C	rs430037	by1000genomes	TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:195511142T>C	ENST00000463781.3	-	2	7768	c.7309A>G	c.(7309-7311)Aac>Gac	p.N2437D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.N2437D|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	195					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.N2437D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAACGTTGGTGACAGGA	0.597000													3	3					0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37592609	37592609	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:37592609A>C	ENST00000284437.6	+	3	1110	c.932A>C	c.(931-933)gAt>gCt	p.D311A	C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	311										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GAAGATTTGGATGAGACTGAT	0.552000													23	22					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322605	45322605	+	Silent	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:45322605C>T	ENST00000589651.1	+	12	1530	c.1476C>T	c.(1474-1476)ccC>ccT	p.P492P	BCAM_ENST00000270233.6_Silent_p.P492P			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CTCCATAGCCCGCAGAGCCAA	0.647000													3	56					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817082	82817082	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:82817082T>C	ENST00000265077.3	+	7	3522	c.2957T>C	c.(2956-2958)tTa>tCa	p.L986S	VCAN_ENST00000512590.2_Missense_Mutation_p.L938S|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.L986S|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	986	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGGGGAGTGTTAGTACCTTCT	0.428000													3	40					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47868122	47868122	+	Missense_Mutation	SNP	G	G	T	rs147830129		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr20:47868122G>T	ENST00000396105.1	-	13	3500	c.3254C>A	c.(3253-3255)cCc>cAc	p.P1085H	ZNFX1_ENST00000371754.4_Missense_Mutation_p.P1085H|ZNFX1_ENST00000371752.1_Missense_Mutation_p.P1085H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1085							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTAAATGTGGGGGGTCAAAAG	0.438000													4	36					1.23904e-05	1.23904e-05	1	1	0
C4orf21	55345	broad.mit.edu	37	4	113508492	113508492	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:113508492T>A	ENST00000505019.1	-	12	3846	c.3721A>T	c.(3721-3723)Att>Ttt	p.I1241F		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACATTTTTAATTTCCTCTGTC	0.388000													5	81					0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156745897	156745897	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:156745897T>C	ENST00000470811.1	+	13	1797	c.462T>C	c.(460-462)tcT>tcC	p.S154S	LEKR1_ENST00000356539.4_Silent_p.S458S			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACAGATATCTGACTTAATCA	0.343000													21	20					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106209335	106209335	+	RNA	SNP	A	A	G			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:106209335A>G	ENST00000390548.2	-	0	73																											CAGGCAGCCCAGGGCTGCTGT	0.662000													4	23					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	8					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043714	56043714	+	Silent	SNP	T	T	C			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398000													69	96					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37500851	37500851	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:37500851G>A	ENST00000377792.3	+	9	1375	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R|POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	363					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTGGGACCTGGAGTTCCCCA	0.483000													9	14					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94544878	94544878	+	Splice_Site	SNP	A	A	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:94544878A>T	ENST00000370225.3	-	9	1325	c.1239T>A	c.(1237-1239)aaT>aaA	p.N413K	ABCA4_ENST00000535735.1_Splice_Site_p.N413K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	413					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGATCTTACATTCTTCAGTA	0.502000													4	49					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17038819	17038819	+	Splice_Site	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:17038819C>T	ENST00000443236.1	-	25	3542	c.3511G>A	c.(3511-3513)Ggg>Agg	p.G1171R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGACGCACCGATGATGGAG	0.637000													13	24					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681737	161681737	+	Silent	SNP	G	G	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:161681737G>A	ENST00000540926.1	+	5	824	c.531G>A	c.(529-531)gcG>gcA	p.A177A	FCRLA_ENST00000546024.1_Silent_p.A99A|FCRLA_ENST00000236938.6_Silent_p.A188A|FCRLA_ENST00000294796.4_Silent_p.A37A|FCRLA_ENST00000540521.1_Silent_p.A54A|FCRLA_ENST00000367953.3_Silent_p.A177A|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Silent_p.A82A|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Silent_p.A48A|FCRLA_ENST00000367959.2_Silent_p.A194A|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR			Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGTTTCCAGCGCCAATTCTCA	0.527000													4	166					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:15061177C>T	ENST00000430939.2	-	9	1462	c.1333G>A	c.(1333-1335)Gta>Ata	p.V445I	SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I|SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V509I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCCCCAGTACGTTGGTCATT	0.577000													13	22					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16411682	16411685	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:16411682_16411685delCTGT	ENST00000334133.4	-	6	1200_1203	c.928_931delACAG	c.(928-933)acagtgfs	p.TV310fs	RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	310						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAACCGCTCACTGTCTGGCCATTC	0.510													35	146	---	---	---	---					
EMG1	10436	broad.mit.edu	37	12	7080210	7080211	+	Splice_Site	INS	-	-	G	rs141646579	by1000genomes	TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													6	9	---	---	---	---					
WFIKKN2	124857	broad.mit.edu	37	17	48917204	48917204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:48917204delC	ENST00000311378.4	+	2	1083	c.555delC	c.(553-555)agcfs	p.S185fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	185						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAACACCAGCCCCCCACCAC	0.627													12	26	---	---	---	---					
ROCK1	6093	broad.mit.edu	37	18	18586471	18586474	+	Frame_Shift_Del	DEL	TAAT	TAAT	-			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:18586471_18586474delTAAT	ENST00000399799.2	-	16	2663_2666	c.1723_1726delATTA	c.(1723-1728)attagtfs	p.IS575fs		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCTAACTGACTAATTGACTTGCTC	0.382													9	98	---	---	---	---					
APOC1P1	342	broad.mit.edu	37	19	45431267	45431268	+	RNA	INS	-	-	A			TCGA-TQ-A7RK-02A-11D-A36O-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f2092-dcae-460d-a4f6-ce80cfc07567	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:45431267_45431268insA	ENST00000574565.1	+	0	402					NR_028412.1																						TGAACAGATTGAAAAAAAAAAC	0.525													2	4	---	---	---	---					
