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
MRPL23	6150	broad.mit.edu	37	11	1977593	1977593	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:1977593G>A	ENST00000397298.3	+	5	490	c.405G>A	c.(403-405)caG>caA	p.Q135Q	MRPL23_ENST00000397294.3_Intron|MRPL23_ENST00000397297.3_Intron|MRPL23_ENST00000381519.1_Silent_p.Q135Q|MRPL23_ENST00000381514.3_Intron	NM_021134.3	NP_066957.3	Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	135					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		AGGAGAGGCAGCAGAGGCAGA	0.682000													4	81					0	0	1	0	0
MED31	51003	broad.mit.edu	37	17	6553677	6553677	+	Splice_Site	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:6553677A>G	ENST00000225728.3	-	2	210	c.106_splice	c.e2+1	p.N35_splice	MED31_ENST00000575197.1_Splice_Site_p.N35_splice|MED31_ENST00000574128.1_5'UTR	NM_016060.2	NP_057144.1	Q9Y3C7	MED31_HUMAN	mediator complex subunit 31	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						ACAACTTACAATTAAGGTAAT	0.353000													6	185					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		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)		AGGAGAAGTTACGGGAAGGGA	0.527000													3	73					0	0	1	0	0
NONO	4841	broad.mit.edu	37	X	70511735	70511735	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:70511735G>A	ENST00000276079.8	+	4	466	c.261G>A	c.(259-261)gaG>gaA	p.E87E	NONO_ENST00000373841.1_Silent_p.E87E|NONO_ENST00000373856.3_Silent_p.E87E|NONO_ENST00000535149.1_5'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	87	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ACATCACTGAGGAAGAAATGA	0.423000			T	TFE3	papillary renal cancer								10	99					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34647938	34647938	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:34647938G>A	ENST00000378842.3	+	5	529	c.487G>A	c.(487-489)Gcc>Acc	p.A163T	GALT_ENST00000450095.2_Missense_Mutation_p.A54T|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	163					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GGAGCTGGGTGCCCAGTACCC	0.587000									Galactosemia				30	44					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6480	6480	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrM:6480G>A	ENST00000361624.2	+	1	577	c.577G>A	c.(577-579)Gtc>Atc	p.193_193insI						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TAATCACAGCAGTCCTACTTC	0.498000													4	22					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201779154	201779154	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:201779154G>A	ENST00000367296.4	+	23	4902	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Silent_p.V1100V|NAV1_ENST00000367302.1_Silent_p.V1447V|NAV1_ENST00000295624.6_Silent_p.V1491V|NAV1_ENST00000367297.4_Silent_p.V1486V|NAV1_ENST00000367300.3_Silent_p.V1434V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1494					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCAGCCACGTGAAACGAGTGT	0.517000													15	139					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43043255	43043255	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:43043255T>A	ENST00000316099.3	+	5	690	c.601T>A	c.(601-603)Tgg>Agg	p.W201R	HNF4A_ENST00000457232.1_Missense_Mutation_p.W179R|HNF4A_ENST00000443598.2_Missense_Mutation_p.W201R|HNF4A_ENST00000415691.1_Missense_Mutation_p.W201R	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	201					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCTCGTTGAGTGGGCCAAGTA	0.622000													5	32					0	0	1	0	0
MT-CO1	4512	broad.mit.edu	37	MT	6984	6984	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrM:6984T>C	ENST00000361624.2	+	1	1081	c.1081T>C	c.(1081-1083)Tca>Cca	p.361_361insP						mitochondrially encoded cytochrome c oxidase I											breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TATTAGCAAACTCATCACTAG	0.453000													5	21					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147084886	147084886	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:147084886G>T	ENST00000234739.3	+	5	998	c.258G>T	c.(256-258)aaG>aaT	p.K86N	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	86					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TGGGGCTGAAGAATGGGGCTG	0.592000			T	"""IGH@, IGL@"""	B-ALL								20	50					1.96292e-10	1.96292e-10	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13125351	13125351	+	Silent	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:13125351T>C	ENST00000319217.7	-	35	4918	c.4671A>G	c.(4669-4671)aaA>aaG	p.K1557K	MPDZ_ENST00000541093.1_5'UTR|MPDZ_ENST00000381022.2_Silent_p.K1557K|MPDZ_ENST00000381015.4_Silent_p.K1557K|MPDZ_ENST00000546205.1_Silent_p.K1571K|MPDZ_ENST00000447879.1_Silent_p.K1524K|MPDZ_ENST00000538841.1_Silent_p.K416K|MPDZ_ENST00000541718.1_Silent_p.K1557K|MPDZ_ENST00000536827.1_Silent_p.K1524K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1557	PDZ 9.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGATGGTAAGTTTTACTGTCA	0.443000													29	32					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	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.Q2724Q(16)|p.Q2725Q(1)		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)		agcagcagcagcaacaacagc	0.562000													5	60					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr5:32089285A>G	ENST00000438447.1	+	20	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1911					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582000													3	154					0	0	1	0	0
CNRIP1	25927	broad.mit.edu	37	2	68544345	68544345	+	Missense_Mutation	SNP	C	C	T	rs34128476	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:68544345C>T	ENST00000263655.3	-	2	879	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CNRIP1_ENST00000409559.3_Missense_Mutation_p.E92K|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409862.1_Missense_Mutation_p.E92K	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	92							protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						GTCACACCTTCTGTGTCATAT	0.493000													38	72					0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24505158	24505158	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:24505158C>T	ENST00000357578.3	+	4	816	c.671C>T	c.(670-672)aCt>aTt	p.T224I	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.T136I|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.T196I|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.T224I	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	224					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GCCGGCTGTACTGTCGTGGTG	0.592000													79	102					0	0	1	0	0
ZBTB49	166793	broad.mit.edu	37	4	4322849	4322849	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr4:4322849G>A	ENST00000337872.4	+	8	2225	c.2104G>A	c.(2104-2106)Gaa>Aaa	p.E702K	ZBTB49_ENST00000538529.1_Missense_Mutation_p.E185K|ZBTB49_ENST00000355834.3_Missense_Mutation_p.E580K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGCCGGTGGCGAACCACTGCA	0.602000													3	68					0	0	1	0	0
RELT	84957	broad.mit.edu	37	11	73105583	73105583	+	Missense_Mutation	SNP	G	G	A	rs146155880		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:73105583G>A	ENST00000064780.2	+	9	1111	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	RELT_ENST00000393580.2_Missense_Mutation_p.V284M	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	284						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TCTCCACACCGTGCAGGGCCT	0.697000													4	146					0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229568532	229568532	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:229568532G>A	ENST00000366684.3	-	3	327	c.225C>T	c.(223-225)caC>caT	p.H75H	ACTA1_ENST00000366683.2_Silent_p.H75H	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	75			H -> L (in NEM3).|H -> R (in NEM3).		muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGATGATGCCGTGCTCGATAG	0.582000													4	200					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9517666	9517666	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:9517666C>T	ENST00000402466.1	+	24	4694	c.3926C>T	c.(3925-3927)gCg>gTg	p.A1309V	SETD5_ENST00000406341.1_Missense_Mutation_p.A1407V|SETD5_ENST00000302463.6_Missense_Mutation_p.A1309V|SETD5_ENST00000407969.1_Missense_Mutation_p.A1426V|SETD5_ENST00000402198.1_Missense_Mutation_p.A1407V			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1407	Ser-rich.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGGGTATCTGCGGTTTCCAAT	0.567000													15	40					0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120794808	120794808	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr12:120794808T>G	ENST00000257552.2	-	9	637	c.549A>C	c.(547-549)aaA>aaC	p.K183N	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	183	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGGCTGAGCTTTCTTACATT	0.542000											OREG0022190	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	55					0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46669963	46669963	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr22:46669963A>G	ENST00000381031.3	+	4	438	c.362A>G	c.(361-363)aAt>aGt	p.N121S	TTC38_ENST00000445282.2_Missense_Mutation_p.N121S	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	121							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACATTTGCCAATGGGTGAGGG	0.632000													4	38					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82								p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488000													4	338					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137721851	137721851	+	Silent	SNP	C	C	T	rs138396959		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:137721851C>T	ENST00000371817.3	+	64	5511	c.5097C>T	c.(5095-5097)aaC>aaT	p.N1699N		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1699	Fibrillar collagen NC1.				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)		CCAAAGAAAACCCGGGCTCCT	0.537000													5	21					0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51192784	51192784	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr14:51192784C>T	ENST00000245441.5	-	30	6269	c.6078_splice	c.e30-1	p.G2027_splice	NIN_ENST00000530997.2_Splice_Site_p.G2027_splice|NIN_ENST00000389868.3_3'UTR|NIN_ENST00000382043.4_Splice_Site_p.G1314_splice|NIN_ENST00000382041.3_Splice_Site_p.G2027_splice|NIN_ENST00000324330.9_3'UTR	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	2027					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCCTGGTTTCCCTGAAGGGAA	0.378000			T	PDGFRB	MPD								19	36					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442971	44442971	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:44442971C>T	ENST00000532642.1	+	7	771	c.674C>T	c.(673-675)cCt>cTt	p.P225L	ATP6V0B_ENST00000498664.1_Intron|ATP6V0B_ENST00000236067.4_Intron|ATP6V0B_ENST00000472174.2_Intron|ATP6V0B_ENST00000471859.2_Intron			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	116					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AAGTGCTCTCCTTCTCTACCT	0.478000													5	9					0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54841926	54841926	+	Silent	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrX:54841926T>C	ENST00000375068.1	+	12	1865	c.1632T>C	c.(1630-1632)agT>agC	p.S544S	MAGED2_ENST00000396224.1_Silent_p.S544S|MAGED2_ENST00000347546.3_Silent_p.S488S|MAGED2_ENST00000218439.4_Silent_p.S544S|MAGED2_ENST00000375053.2_Silent_p.S544S|MAGED2_ENST00000375058.1_Silent_p.S544S|MAGED2_ENST00000375060.1_Silent_p.S459S|MAGED2_ENST00000375062.4_Silent_p.S459S|MAGED2_ENST00000343474.6_Silent_p.S526S			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	544										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CCCAAGAGAGTGGcagtgcca	0.617000													4	11					0	0	1	0	0
MT-ND6	4541	broad.mit.edu	37	MT	14414	14414	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chrM:14414T>C	ENST00000361681.2	-	1	259	c.260A>G	c.(259-261)gAg>gGg	p.E87G						mitochondrially encoded NADH dehydrogenase 6											breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						TCACCAAGACCTCAACCCCTG	0.448000													5	30					0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20409654	20409654	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:20409654G>A	ENST00000331079.6	+	2	335	c.118G>A	c.(118-120)Gat>Aat	p.D40N	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	40							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGACGATGCAGATCTCCCCCA	0.677000													3	94					0	0	1	0	0
TTL	150465	broad.mit.edu	37	2	113251935	113251935	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr2:113251935C>T	ENST00000233336.5	+	3	643	c.452C>T	c.(451-453)tCa>tTa	p.S151L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	151	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATTGCAAAGTCATCAGCCGGT	0.428000			T	ETV6	ALL								16	35					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37356590	37356590	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:37356590G>A	ENST00000373091.3	-	2	239	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S	GRIK3_ENST00000373093.4_Missense_Mutation_p.P75S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	75					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)	GTTGTGTTGGGCAGCAGAGTC	0.527000													5	215					0	0	1	0	0
LMLN	89782	broad.mit.edu	37	3	197746190	197746190	+	Silent	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr3:197746190G>A	ENST00000330198.4	+	12	1321	c.1299G>A	c.(1297-1299)caG>caA	p.Q433Q	LMLN_ENST00000482695.1_Silent_p.Q418Q|LMLN_ENST00000420910.2_Silent_p.Q470Q|LMLN_ENST00000332636.5_Silent_p.Q381Q	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	433					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTTGCAGACAGGACCAGAGAG	0.488000													3	105					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063783	15063783	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:15063783G>A	ENST00000430939.2	-	8	1393	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	SLC1A6_ENST00000600144.1_Missense_Mutation_p.P408S|SLC1A6_ENST00000221742.3_Missense_Mutation_p.P486S			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	486					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			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)	TCTTCCGTGGGCAAGCCGACC	0.612000													4	213					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116116526	116116526	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr9:116116526A>G	ENST00000374183.4	+	2	247	c.208A>G	c.(208-210)Att>Gtt	p.I70V	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	70					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCAGAACAAGATTGTGGACCA	0.507000													30	35					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				25	59					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9609296	9609296	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr8:9609296G>A	ENST00000310430.6	+	19	3036	c.3010G>A	c.(3010-3012)Gta>Ata	p.V1004I	TNKS_ENST00000518281.1_Missense_Mutation_p.V767I	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1004					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAGTTGGCCGTAGGAGGAGC	0.542000													4	172					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr20:62839353A>C	ENST00000536311.1	+	7	1168	c.804A>C	c.(802-804)gaA>gaC	p.E268D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.E268D			Q01538	MYT1_HUMAN	myelin transcription factor 1	268	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572000													3	9					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98816982	98816982	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:98816982T>C	ENST00000266058.4	-	12	1387	c.1142A>G	c.(1141-1143)tAc>tGc	p.Y381C	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.Y381C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	381					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGGGTGTATAGGCCTCC	0.572000													3	62					0	0	1	0	0
MKLN1	4289	broad.mit.edu	37	7	131073683	131073683	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:131073683A>T	ENST00000352689.6	+	4	392	c.352A>T	c.(352-354)Aag>Tag	p.K118*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.K26*|MKLN1_ENST00000429546.1_Nonsense_Mutation_p.K26*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	118					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATTCACCTTGAAGCATAAAAT	0.299000													9	20					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055811	93055811	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:93055811C>T	ENST00000359558.2	-	16	1683	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	CALCR_ENST00000360249.4_Missense_Mutation_p.A444T|CALCR_ENST00000426151.1_Missense_Mutation_p.A428T|CALCR_ENST00000421592.1_Missense_Mutation_p.A444T|CALCR_ENST00000394441.1_Missense_Mutation_p.A428T	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	444					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCGGCTGCAGCGCGAGCAGAG	0.592000													46	88					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243471455	243471476	+	Frame_Shift_Del	DEL	TGCAGACCATCGAAAGACTGGT	TGCAGACCATCGAAAGACTGGT	-	rs149359674	byFrequency	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr1:243471455_243471476delTGCAGACCATCGAAAGACTGGT	ENST00000366541.3	+	8	1023_1044	c.905_926delTGCAGACCATCGAAAGACTGGT	c.(904-927)atfs	p.MQTIERLV302fs	SDCCAG8_ENST00000355875.4_Frame_Shift_Del_p.MQTIERLV259fs|SDCCAG8_ENST00000343783.6_Frame_Shift_Del_p.MQTIERLV157fs|SDCCAG8_ENST00000391846.1_Frame_Shift_Del_p.MQTIERLV302fs	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	302	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.R307R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		AATGTTCATATGCAGACCATCGAAAGACTGGTTAAGTAAGTA	0.423													22	197	---	---	---	---					
KCNQ5	56479	broad.mit.edu	37	6	73331984	73331986	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr6:73331984_73331986delGCG	ENST00000342056.2	+	1	465_467	c.67_69delGCG	c.(67-69)del	p.A27del	KCNQ5_ENST00000414165.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000403813.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000402622.2_In_Frame_Del_p.A27del|KCNQ5_ENST00000370392.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000370398.1_In_Frame_Del_p.A27del|KCNQ5_ENST00000355635.3_In_Frame_Del_p.A27del|KCNQ5_ENST00000355194.4_In_Frame_Del_p.A27del	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	27					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAgcggcgcagcggcggcggcgg	0.783													2	4	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)agg>ag	p.RL10del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	10					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---					
PTCD1	26024	broad.mit.edu	37	7	99032605	99032607	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr7:99032605_99032607delCTC	ENST00000292478.4	-	2	509_511	c.259_261delGAG	c.(259-261)del	p.E87del	PTCD1_ENST00000485746.1_5'UTR|PTCD1_ENST00000555673.1_In_Frame_Del_p.E136del|ATP5J2-PTCD1_ENST00000413834.1_In_Frame_Del_p.E136del	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1									p.E87K(1)		endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAAACTCTCCTCCTCCTCC	0.606													7	185	---	---	---	---					
JMJD1C	221037	broad.mit.edu	37	10	64967938	64967938	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:64967938delG	ENST00000399262.2	-	10	3709	c.3491delC	c.(3490-3492)cafs	p.P1164fs	JMJD1C_ENST00000399251.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000402544.1_Frame_Shift_Del_p.P945fs|JMJD1C_ENST00000542921.1_Frame_Shift_Del_p.P982fs	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1164					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAGATGTTCTGGTATCTTGCC	0.388													92	183	---	---	---	---					
MXI1	4601	broad.mit.edu	37	10	111986020	111986020	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr10:111986020delT	ENST00000239007.7	+	1	270	c.52delT	c.(52-54)ttfs	p.F18fs	MXI1_ENST00000332674.5_Intron|MXI1_ENST00000361248.4_Intron|MXI1_ENST00000393134.1_Frame_Shift_Del_p.F18fs	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	18					cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGCTGCCGAGTTTTTGGAGCG	0.677													2	4	---	---	---	---					
RP11-358H18.3	0	broad.mit.edu	37	11	17717451	17717452	+	RNA	INS	-	-	GGGCCG	rs77540938		TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:17717451_17717452insGGGCCG	ENST00000524479.1	+	0	314				RP11-358H18.2_ENST00000529781.1_RNA																							gagaggggccagggccggggcc	0.797													3	3	---	---	---	---					
RP11-64D24.4	0	broad.mit.edu	37	11	114239196	114239197	+	RNA	INS	-	-	C	rs71301679	by1000genomes	TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr11:114239196_114239197insC	ENST00000534904.2	-	0	304																											acatggtgagaccccccccgcc	0.579													2	4	---	---	---	---					
TRADD	8717	broad.mit.edu	37	16	67189037	67189039	+	In_Frame_Del	DEL	GGC	GGC	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr16:67189037_67189039delGGC	ENST00000345057.4	-	4	1056_1058	c.588_590delGCC	c.(586-591)cca>cc	p.PP196del	TRADD_ENST00000486556.1_In_Frame_Del_p.PP136del	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	196	Death.|Poly-Pro.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CTGGGCAGGTGGCGGCGGCGGCG	0.724													3	5	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7788146	7788148	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr17:7788146_7788148delGAG	ENST00000380358.4	+	1	23_25	c.22_24delGAG	c.(22-24)del	p.E14del	LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	429					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCTGAGggacgaggaggaggagg	0.700													3	3	---	---	---	---					
REXO1	57455	broad.mit.edu	37	19	1827021	1827023	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:1827021_1827023delGGA	ENST00000170168.4	-	2	1859_1861	c.1765_1767delTCC	c.(1765-1767)del	p.S589del		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	589	Ser-rich.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		CGCTggaggtggaggaggaggag	0.700													3	5	---	---	---	---					
SBSN	374897	broad.mit.edu	37	19	36019046	36019047	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr19:36019046_36019047delCT	ENST00000452271.2	-	1	165_166	c.137_138delAG	c.(136-138)gfs	p.E46fs	SBSN_ENST00000518157.1_Frame_Shift_Del_p.E46fs	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	46						extracellular region		p.E46fs*27(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTTGCCCACCTCTCTCTCTGC	0.579													7	294	---	---	---	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-EL-A3GU-01A-11D-A21A-08	TCGA-EL-A3GU-11A-21D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8595cf5-599e-46e5-b5ba-33521664356a	494c10c7-1916-4269-884e-186ef3bfdc19	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)del	p.C121del	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													9	125	---	---	---	---					
