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
CLTCL1	8218	broad.mit.edu	37	22	19196494	19196494	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19196494G>C	ENST00000263200.10	-	21	3452	c.3380C>G	c.(3379-3381)tCc>tGc	p.S1127C	CLTCL1_ENST00000353891.5_Missense_Mutation_p.S1127C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.S1127C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1127	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTGATATAGGAGTTGATGGC	0.547000			T	?	ALCL								16	7					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56391251	56391251	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:56391251C>T	ENST00000370754.5	-	69	17943	c.17944G>A	c.(17944-17946)Gta>Ata	p.V5982I	DST_ENST00000370769.4_Missense_Mutation_p.V5804I|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.V3607I|DST_ENST00000361203.3_Missense_Mutation_p.V5693I|DST_ENST00000421834.2_Missense_Mutation_p.V3716I|DST_ENST00000244364.6_Missense_Mutation_p.V3390I|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.V5478I			Q03001	DYST_HUMAN	dystonin	5802					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTCAGCTACCATTTTCTCA	0.498000													29	63					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91172709	91172709	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91172709G>A	ENST00000420329.2	+	11	1358	c.1211G>A	c.(1210-1212)gGt>gAt	p.G404D	CRTC3_ENST00000268184.6_Missense_Mutation_p.G404D|RP11-387D10.2_ENST00000559531.1_RNA	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	404					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCACATCAAGGTTTCAGCAGA	0.572000			T	MAML2	salivary gland mucoepidermoid								46	95					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													5	356					1.024e-07	1.05412e-07	1	1	0
INHBA	3624	broad.mit.edu	37	7	41729399	41729399	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:41729399C>T	ENST00000242208.4	-	3	1376	c.1130G>A	c.(1129-1131)cGc>cAc	p.R377H	INHBA_ENST00000442711.1_Missense_Mutation_p.R377H|INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	377				RMR -> AC (in Ref. 7; CAA51163).	cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R377H(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCCCCGCATGCGGTAGTGGTT	0.547000										TSP Lung(11;0.080)			60	80					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33552148	33552148	+	Missense_Mutation	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:33552148T>A	ENST00000399362.4	-	37	4593	c.4240A>T	c.(4240-4242)Aat>Tat	p.N1414Y	CLASP2_ENST00000359576.5_Missense_Mutation_p.N1406Y|CLASP2_ENST00000307312.7_Missense_Mutation_p.N896Y|CLASP2_ENST00000461133.3_Missense_Mutation_p.N1174Y|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.N1194Y|CLASP2_ENST00000468888.2_Missense_Mutation_p.N1415Y	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1416										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAGCCAGATTAATTGGGTAG	0.438000													7	14					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113750979	113750979	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:113750979G>A	ENST00000375608.3	+	30	3452	c.3394G>A	c.(3394-3396)Gtg>Atg	p.V1132M	MCF2L_ENST00000442652.2_Missense_Mutation_p.V1132M|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000397030.1_3'UTR|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000434480.2_Missense_Mutation_p.V1108M|MCF2L_ENST00000375604.2_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1132					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TAAGGCCCACGTGCCCCGAGC	0.741000													5	15					0	0	1	0	0
ANKRD30BP2	0	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													4	43					0	0	1	0	0
SAMD4B	55095	broad.mit.edu	37	19	39869208	39869208	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:39869208C>T	ENST00000314471.6	+	11	2544	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	SAMD4B_ENST00000598913.1_Silent_p.I503I|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	503							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCAGCTCATCGAAAAGTGCC	0.572000													12	67					0	0	1	0	0
KLHL25	64410	broad.mit.edu	37	15	86312852	86312852	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:86312852G>C	ENST00000337975.5	-	2	464	c.190C>G	c.(190-192)Ctg>Gtg	p.L64V	KLHL25_ENST00000559131.1_Intron|KLHL25_ENST00000536947.1_Missense_Mutation_p.L64V	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	64	BTB.					cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GAGGCGGCCAGCACGGCACGG	0.627000													14	33					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639635	149639635	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607000													5	164					0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91073323	91073323	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:91073323C>T	ENST00000420329.2	+	1	167	c.20C>T	c.(19-21)tCg>tTg	p.S7L	CRTC3_ENST00000560098.1_Missense_Mutation_p.S7L|CRTC3_ENST00000268184.6_Missense_Mutation_p.S7L	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	7	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TCGCCGGGCTCGGGCAGCGCC	0.721000			T	MAML2	salivary gland mucoepidermoid								5	3					0	0	1	0	0
CARKD	55739	broad.mit.edu	37	13	111287884	111287884	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr13:111287884G>A	ENST00000309957.2	+	8	735	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	CARKD_ENST00000458711.2_Missense_Mutation_p.V110M|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.V131M	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2	Q8IW45	CARKD_HUMAN	carbohydrate kinase domain containing	241	YjeF C-terminal.									NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						CCTGGGCAACGTGACGGTGGT	0.592000													28	212					0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72988397	72988397	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:72988397G>T	ENST00000305632.5	-	3	558	c.317C>A	c.(316-318)gCt>gAt	p.A106D	TBL2_ENST00000452475.1_Missense_Mutation_p.A106D|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.A70D	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	106										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGCACAGGTAGCCAGGTATTT	0.577000													13	50					2.27111e-07	2.30403e-07	1	1	0
DHX30	22907	broad.mit.edu	37	3	47889849	47889849	+	Silent	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:47889849A>G	ENST00000446256.2	+	16	2921	c.2349A>G	c.(2347-2349)caA>caG	p.Q783Q	DHX30_ENST00000445061.1_Silent_p.Q822Q|DHX30_ENST00000348968.4_Silent_p.Q794Q|DHX30_ENST00000457607.1_Silent_p.Q850Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	822	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGTGCTGCAAGCGAAAATCC	0.632000													24	43					0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3225847	3225847	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:3225847C>T	ENST00000355072.5	+	56	7899	c.7754C>T	c.(7753-7755)cCg>cTg	p.P2585L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2585					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTCTGTCTCCGGCTACTACA	0.512000													42	135					0	0	1	0	0
CCDC181	57821	broad.mit.edu	37	1	169391086	169391086	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:169391086A>T	ENST00000545005.1	-	4	1090	c.583T>A	c.(583-585)Ttt>Att	p.F195I	CCDC181_ENST00000367806.3_Missense_Mutation_p.F195I|CCDC181_ENST00000367805.3_Missense_Mutation_p.F195I|CCDC181_ENST00000491570.1_5'UTR					coiled-coil domain containing 181																		TCTTGTCCAAAATCATTGGAA	0.348000													38	58					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583958	35583958	+	Missense_Mutation	SNP	A	A	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:35583958A>G	ENST00000287272.2	+	9	1405	c.1385A>G	c.(1384-1386)cAa>cGa	p.Q462R	UNC5D_ENST00000449677.1_Missense_Mutation_p.Q107R|UNC5D_ENST00000453357.2_Missense_Mutation_p.Q526R|UNC5D_ENST00000420357.1_Missense_Mutation_p.Q464R|UNC5D_ENST00000416672.1_Missense_Mutation_p.Q536R|UNC5D_ENST00000404895.2_Missense_Mutation_p.Q531R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	531					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCTACATCCAAAATCTGTCA	0.468000													26	40					0	0	1	0	0
MT-ND1	4535	broad.mit.edu	37	MT	4131	4131	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrM:4131A>C	ENST00000361390.2	+	1	825	c.825A>C	c.(823-825)acA>acC	p.275_275insT						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						TGAATTCGAACAGCATACCCC	0.438000													31	33					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:7577141C>A	ENST00000420246.2	-	8	929	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G266V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> 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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	4					0.0135373	0.0135373	1	1	0
ZNF808	388558	broad.mit.edu	37	19	53057634	53057634	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:53057634C>T	ENST00000359798.4	+	5	1645	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAATGAGTGTCGCAAGACCTT	0.433000													37	128					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37291395	37291395	+	Missense_Mutation	SNP	G	G	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:37291395G>C	ENST00000373091.3	-	11	1579	c.1563C>G	c.(1561-1563)atC>atG	p.I521M	GRIK3_ENST00000373093.4_Missense_Mutation_p.I521M	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	521					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GAACATGGGTGATGGTCAGGG	0.542000													8	131					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43907499	43907499	+	Silent	SNP	C	C	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:43907499C>A	ENST00000314537.5	+	6	699	c.474C>A	c.(472-474)ctC>ctA	p.L158L	CRHR1_ENST00000352855.5_Silent_p.L118L|CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000398285.3_Silent_p.L187L|CRHR1_ENST00000577353.1_Silent_p.L158L|CRHR1_ENST00000339069.5_Silent_p.L57L	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	187					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ACTGGAACCTCATCTCCGCCT	0.622000													86	97					5.70515e-31	6.144e-31	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57188629	57188629	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:57188629C>G	ENST00000331162.4	-	5	763	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTACCAAAGACTTTGACATAT	0.308000													9	19					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24417411	24417411	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:24417411G>A	ENST00000330966.7	-	12	1473	c.1311C>T	c.(1309-1311)ggC>ggT	p.G437G	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.G436G|MYOM3_ENST00000374434.3_Silent_p.G436G			Q5VTT5	MYOM3_HUMAN	myomesin 3	436	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCGACGAGGCCTTGGATTG	0.637000													58	96					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													6	686					0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45544547	45544547	+	Missense_Mutation	SNP	G	G	A	rs144635092	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr21:45544547G>A	ENST00000291576.7	+	15	2031	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	635						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TACCACGTCCGTGAGCAGATT	0.602000													6	60					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101715317	101715317	+	Silent	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:101715317C>G	ENST00000342239.3	-	4	2005	c.1914G>C	c.(1912-1914)gtG>gtC	p.V638V	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000324109.4_Silent_p.V638V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	638	Pro-rich.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGGGTCGCACCACCAAGGGTG	0.597000													8	59					0	0	1	0	0
FAM86C2P	0	broad.mit.edu	37	11	67564228	67564228	+	RNA	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67564228C>T	ENST00000528089.1	-	0	912																											GAGGAGCCCGCTGGTGCTCCC	0.627000													5	88					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97215506	97215506	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:97215506C>G	ENST00000454558.2	+	4	1249	c.72C>G	c.(70-72)atC>atG	p.I24M	ARID5A_ENST00000357485.3_Missense_Mutation_p.I92M			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						TGTGGAAGATCTACAAAGCAG	0.602000													32	56					0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67926336	67926336	+	Missense_Mutation	SNP	C	C	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:67926336C>G	ENST00000304363.4	-	11	1830	c.1477G>C	c.(1477-1479)Gat>Cat	p.D493H		NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGCTCCTTATCTTTTTTAATG	0.478000													45	44					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34101204	34101204	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:34101204C>T	ENST00000374181.3	-	1	239	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	GRM4_ENST00000538487.1_Missense_Mutation_p.G24S|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	24					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ATCCAGGGGCCGTAAAGGCTG	0.612000													27	22					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5919371	5919371	+	Splice_Site	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:5919371A>C	ENST00000203001.2	-	11	1434	c.1302_splice	c.e11-1	p.V435_splice	TRMT6_ENST00000453074.2_Splice_Site_p.V265_splice|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	435					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATCTGGCAAAACCTAATCAAG	0.418000													14	75					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128785806	128785806	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:128785806G>A	ENST00000280333.6	+	5	358	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	83					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAGTCATCCCGGGTGACCTCC	0.507000													7	10					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762746	24762746	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:24762746G>A	ENST00000376451.2	+	2	850	c.590G>A	c.(589-591)aGt>aAt	p.S197N	KIAA1217_ENST00000430453.2_Missense_Mutation_p.S400N|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S197N|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S197N|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S479N|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S479N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S399N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S479N			Q5T5P2	SKT_HUMAN	KIAA1217	479					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CACAGAGTCAGTGACCTGAGG	0.542000													25	95					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305578	136305578	+	Missense_Mutation	SNP	G	G	A	rs34569244		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr9:136305578G>A	ENST00000371929.3	+	16	2344	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	ADAMTS13_ENST00000536611.1_Missense_Mutation_p.E306K|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.E634K|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.E603K|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	634	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GGCCCTCACCGAGGACCGGCT	0.647000													19	24					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18765801	18765801	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:18765801C>T	ENST00000304081.4	-	4	802	c.702G>A	c.(700-702)ccG>ccA	p.P234P	NT5C1B_ENST00000600945.1_Silent_p.P294P|NT5C1B-RDH14_ENST00000532967.1_Silent_p.P294P|NT5C1B_ENST00000359846.2_Silent_p.P294P	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GCGAGCAGCTCGGGTTCTTCT	0.687000													13	14					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6915	6915	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrM:6915G>A	ENST00000361624.2	+	1	1012	c.1012G>A	c.(1012-1014)Gtg>Atg	p.338_338insM						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GATCTGCTGCAGTGCTCTGAG	0.478000													98	3					0	0	1	0	0
CYP21A1P	0	broad.mit.edu	37	6	31975463	31975463	+	RNA	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:31975463T>C	ENST00000342991.6	+	0	1386					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCAGCGACTGTAGGAGGAGCT	0.657000													5	14					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659329	50659329	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chrX:50659329C>T	ENST00000252677.3	+	2	901	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	301					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498000													77	65					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19961226	19961226	+	Missense_Mutation	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:19961226G>A	ENST00000263207.3	-	13	2470	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	ARVCF_ENST00000401994.1_Missense_Mutation_p.R664C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R664C|ARVCF_ENST00000406522.1_Missense_Mutation_p.R658C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R721C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	727					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCGACGGCGCGCACCACCTTG	0.667000													31	134					0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451444	38451444	+	Silent	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr5:38451444C>T	ENST00000322350.5	+	19	2917	c.2571C>T	c.(2569-2571)ttC>ttT	p.F857F	EGFLAM_ENST00000506135.1_5'UTR|EGFLAM_ENST00000354891.3_Silent_p.F865F|EGFLAM_ENST00000397202.2_Silent_p.F223F|EGFLAM_ENST00000514476.1_5'UTR|EGFLAM_ENST00000397210.3_5'UTR|EGFLAM_ENST00000336740.6_Silent_p.F623F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	865	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CAAATGTGTTCATGAGGTTTA	0.468000													46	111					0	0	1	0	0
HERC2P2	0	broad.mit.edu	37	15	23300188	23300188	+	RNA	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:23300188T>C	ENST00000560464.1	-	0	4120																											AAGAGGGTCCTGGGAGGTTTG	0.552000													3	11					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17912350	17912350	+	Missense_Mutation	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:17912350T>C	ENST00000448223.2	-	7	807	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	SMC6_ENST00000402989.1_Missense_Mutation_p.I180V|SMC6_ENST00000351948.4_Missense_Mutation_p.I180V|SMC6_ENST00000381272.4_Missense_Mutation_p.I206V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	180					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTACCTGGATGTTAAAATGA	0.343000													3	39					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179737016	179737016	+	Missense_Mutation	SNP	A	A	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr2:179737016A>C	ENST00000420890.2	-	13	2040	c.1923T>G	c.(1921-1923)gaT>gaG	p.D641E	CCDC141_ENST00000295723.5_Missense_Mutation_p.D66E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	66							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTTTTCACATCTAATATCT	0.368000													14	31					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			266	32					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27009799	27009799	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:27009799G>T	ENST00000314616.6	+	14	1935	c.1652G>T	c.(1651-1653)cGg>cTg	p.R551L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R551L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	551					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGAACCTGCGGGATAGCTAC	0.557000													24	84					4.26978e-12	4.46096e-12	1	1	0
MET	0	broad.mit.edu	37	7	116340188	116340188	+	Missense_Mutation	SNP	G	G	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr7:116340188G>T	ENST00000397752.3	+	2	1250	c.1050G>T	c.(1048-1050)aaG>aaT	p.K350N	MET_ENST00000318493.6_Missense_Mutation_p.K350N|MET_ENST00000436117.2_Missense_Mutation_p.K350N	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	350	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CACAAAGCAAGCCAGATTCTG	0.473000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				25	29					2.27525e-19	2.41315e-19	1	1	0
USP43	124739	broad.mit.edu	37	17	9631744	9631744	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:9631744C>T	ENST00000570827.2	+	15	2950	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	USP43_ENST00000285199.6_Missense_Mutation_p.P937S|USP43_ENST00000570475.1_Missense_Mutation_p.P932S			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	937					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CACTGTGATGCCTTCAGTGGA	0.537000													6	8					0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135524778	135524778	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:135524778C>T	ENST00000520727.1	-	15	3564	c.3265G>A	c.(3265-3267)Gtt>Att	p.V1089I	ZFAT_ENST00000520214.1_Missense_Mutation_p.V1089I|ZFAT_ENST00000429442.2_Missense_Mutation_p.V1089I|ZFAT_ENST00000523399.1_Missense_Mutation_p.V1039I|ZFAT_ENST00000377838.3_Missense_Mutation_p.V1101I|ZFAT_ENST00000520356.1_Intron	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTCCCTTGAACGTCTTCTTCG	0.532000													55	321					0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40148381	40148381	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:40148381C>T	ENST00000372844.3	-	4	794	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_016257.2	NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	135					central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATCATGATCACGGTGCCCACC	0.562000													32	57					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106580	27106580	+	Missense_Mutation	SNP	T	T	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:27106580T>G	ENST00000324856.7	+	20	6562	c.6191T>G	c.(6190-6192)cTc>cGc	p.L2064R	ARID1A_ENST00000374152.2_Missense_Mutation_p.L1681R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1847R|ARID1A_ENST00000540690.1_Missense_Mutation_p.L392R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2064					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGTTACACTCGCCAACATC	0.557000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								86	104					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71501409	71501409	+	Silent	SNP	T	T	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr6:71501409T>A	ENST00000370455.3	+	5	680	c.432T>A	c.(430-432)gcT>gcA	p.A144A	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	144					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTCTGATGCTCCTCTTCAGC	0.403000													30	35					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N														p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353000													5	83					0	0	1	0	0
SEC11A	23478	broad.mit.edu	37	15	85259282	85259282	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:85259282C>T	ENST00000268220.7	-	1	665	c.25G>A	c.(25-27)Gat>Aat	p.D9N	SEC11A_ENST00000560266.1_Missense_Mutation_p.D9N|SEC11A_ENST00000558134.1_Missense_Mutation_p.D9N|SEC11A_ENST00000455959.3_5'UTR	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	9					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CGCCGCACATCGTCCAAAAAG	0.642000													8	15					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22396405	22396405	+	Silent	SNP	G	G	A	rs117003321		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:22396405G>A	ENST00000263160.3	+	9	1583	c.1146G>A	c.(1144-1146)acG>acA	p.T382T		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TTTCAACTACGACAGTGAGAA	0.368000													40	108					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25167977	25167977	+	Missense_Mutation	SNP	A	A	T	rs139621203	byFrequency	TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr8:25167977A>T	ENST00000276440.7	+	13	1291	c.1247A>T	c.(1246-1248)aAt>aTt	p.N416I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	416						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTCAGAAGAATTTTTCACAC	0.423000													15	17					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4228226	4228226	+	Silent	SNP	G	G	A			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr4:4228226G>A	ENST00000296358.4	-	1	390	c.366C>T	c.(364-366)cgC>cgT	p.R122R		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	122					biomineral tissue development	extracellular space|integral to membrane		p.R122R(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGTCCTTGAGGCGGAAGAGGC	0.716000													4	5					0	0	1	0	0
TRIM17	51127	broad.mit.edu	37	1	228595913	228595913	+	Missense_Mutation	SNP	C	C	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:228595913C>T	ENST00000366697.2	-	6	2379	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	TRIM17_ENST00000366698.2_Missense_Mutation_p.V475M|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000295033.3_Missense_Mutation_p.V475M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	475	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TATCCTTTCACCCACATGGTC	0.617000													23	124					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52390195	52390195	+	RNA	SNP	T	T	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr10:52390195T>C	ENST00000443374.1	+	0	888																											AATCGAACTGTAGTACACTTG	0.398000													12	7					0	0	1	0	0
ESPNP	0	broad.mit.edu	37	1	17030903	17030905	+	RNA	DEL	GAG	GAG	-	rs67156338		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:17030903_17030905delGAG	ENST00000492551.1	-	0	696					NR_026567.1																						AGAGATCGACGAGGAGGGGGCCT	0.640													3	6	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													7	301	---	---	---	---					
SNHG12	0	broad.mit.edu	37	1	28906819	28906820	+	RNA	INS	-	-	AA	rs147786269		TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:28906819_28906820insAA	ENST00000488745.1	-	0	1100				SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA																							gactccgtctcaaaaaaaaaaa	0.490													3	5	---	---	---	---					
IQCC	55721	broad.mit.edu	37	1	32671482	32671482	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:32671482delG	ENST00000537469.1	+	1	247	c.200delG	c.(199-201)tgfs	p.W67fs	IQCC_ENST00000291358.6_Intron|RP4-622L5.7_ENST00000373604.4_RNA|RP4-622L5.7_ENST00000421616.1_RNA	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	328										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGAAAGCTGGGACCCACGG	0.657													2	4	---	---	---	---					
RP11-14N7.2	0	broad.mit.edu	37	1	148930893	148930893	+	RNA	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:148930893delC	ENST00000539543.1	+	0	41					NR_027355.1																						GTGGATGGAGCCCCCCCCCCA	0.652													2	4	---	---	---	---					
URB2	9816	broad.mit.edu	37	1	229763491	229763492	+	Frame_Shift_Ins	INS	-	-	G			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr1:229763491_229763492insG	ENST00000258243.2	+	2	247_248	c.111_112insG	c.(109-114)ctcaaafs	p.K38fs		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	38						nucleolus		p.P38T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AGTGCTTTCTTCCAAATAAAGA	0.307													14	68	---	---	---	---					
RP11-430H10.4	0	broad.mit.edu	37	11	45500261	45500261	+	RNA	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:45500261delC	ENST00000528445.1	-	0	535																											actggtccctcCCCTGCCCTC	0.522													2	4	---	---	---	---					
PGR	5241	broad.mit.edu	37	11	100999426	100999427	+	Frame_Shift_Ins	INS	-	-	C			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr11:100999426_100999427insC	ENST00000325455.5	-	1	1828_1829	c.375_376insG	c.(373-378)ggagagfs	p.E126fs	PGR_ENST00000263463.5_Frame_Shift_Ins_p.E126fs|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	126	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGTTGGCTCTGCCCGGGACCTG	0.653													7	8	---	---	---	---					
RP11-61O1.1	0	broad.mit.edu	37	14	98615354	98615355	+	RNA	INS	-	-	T			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr14:98615354_98615355insT	ENST00000555776.1	-	0	121																											tgcccagccCATTTTTTTCCTA	0.436													2	4	---	---	---	---					
AC026495.1	0	broad.mit.edu	37	15	20563423	20563423	+	RNA	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:20563423delC	ENST00000581090.1	+	0	63																											cccttcctctcccttcctctc	0.672													3	5	---	---	---	---					
RP11-24M17.5	0	broad.mit.edu	37	15	76071563	76071563	+	RNA	DEL	G	G	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:76071563delG	ENST00000395215.3	+	0	245																											AAGAGGCCCTGGGCCAAGGTG	0.512													2	4	---	---	---	---					
DNM1P46	0	broad.mit.edu	37	15	100338179	100338180	+	RNA	DEL	CA	CA	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr15:100338179_100338180delCA	ENST00000341853.1	-	0	1090					NR_003260.1																						CAGCAGTGGTCACACCTGGATG	0.465													2	4	---	---	---	---					
HCFC1R1	54985	broad.mit.edu	37	16	3073870	3073870	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr16:3073870delC	ENST00000248089.3	-	1	377	c.73delG	c.(73-75)tgfs	p.V25fs	HCFC1R1_ENST00000396916.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574151.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000574980.1_Frame_Shift_Del_p.V25fs|HCFC1R1_ENST00000572355.1_Intron|HCFC1R1_ENST00000354679.3_Frame_Shift_Del_p.V25fs	NM_017885.2	NP_060355.1	Q9NWW0	HPIP_HUMAN	host cell factor C1 regulator 1 (XPO1 dependent)	25						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						CCCCAAGTCACCCCCAAGGCG	0.701													2	4	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)cafs	p.L454fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													7	30	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45368618	45368632	+	In_Frame_Del	DEL	TTCCTGGACTGTACA	TTCCTGGACTGTACA	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr19:45368618_45368632delTTCCTGGACTGTACA	ENST00000252483.5	+	2	179_193	c.179_193delTTCCTGGACTGTACA	c.(178-195)gtc>g	p.VPGLYI60del	PVRL2_ENST00000252485.4_In_Frame_Del_p.VPGLYI60del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	60	Ig-like V-type.				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		CTGCCACCTGTTCCTGGACTGTACATCTCCCTGGT	0.656													19	71	---	---	---	---					
EWSR1	2130	broad.mit.edu	37	22	29695296	29695296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-NA-A4QY-01A-11D-A28R-08	TCGA-NA-A4QY-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488e827e-d912-4b2e-9e0e-f0d442548c4f	a8ed63a8-ba8a-49c1-bf64-00388e7eb226	g.chr22:29695296delC	ENST00000397938.2	+	15	1972	c.1653delC	c.(1651-1653)ttfs	p.F551fs	EWSR1_ENST00000332035.6_Frame_Shift_Del_p.F495fs|EWSR1_ENST00000414183.2_Frame_Shift_Del_p.F556fs|EWSR1_ENST00000332050.6_Frame_Shift_Del_p.F478fs|EWSR1_ENST00000406548.1_Frame_Shift_Del_p.F550fs|EWSR1_ENST00000331029.7_Frame_Shift_Del_p.F513fs	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGAAGGCTTCCTCCCGCCAC	0.522			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								85	132	---	---	---	---					
