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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ANP32AP1	723972	broad.mit.edu	37	15	35530016	35530016	+	RNA	SNP	G	A	A	rs140185173	by1000genomes	TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr15:35530016G>A	uc001ziy.3	+	0		c.490G>A								Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member A pseudogene 1 (ANP32AP1), non-coding RNA.																		TGAGGGCTACGTGGAGGGCCT	0.557000														18			10		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									48			39		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	659075	659075	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr12:659075C>T	uc001qii.1	+	9	994	c.994C>T	c.(994-996)Cga>Tga	p.R332*	B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R234*|B4GALNT3_uc001qik.1_5'Flank	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	332						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CACCCTCTATCGAGGTAAGGC	0.627000														13			12		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515200	140515200	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr5:140515200C>T	uc003liq.3	+	0	401	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	62	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTGGCCACTCGGGGCGCGCG	0.488000														59			57		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206603533	206603533	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr1:206603533C>G	uc001hdy.3	+	10	1256	c.1255C>G	c.(1255-1257)Ctg>Gtg	p.L419V	SRGAP2_uc010prt.1_Missense_Mutation_p.L342V|SRGAP2_uc001hdx.3_Missense_Mutation_p.L419V|SRGAP2_uc010pru.2_Missense_Mutation_p.L418V|SRGAP2_uc010prv.1_Missense_Mutation_p.L343V	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	506					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GGCAATTCCTCTGGTGGTGGA	0.473000														70			116		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314705	176314705	+	Silent	SNP	C	T	T	rs143340857		TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr5:176314705C>T	uc003mfa.3	-	10	1439	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	HK3_uc003mez.3_Silent_p.P5P	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	449	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCGCATTCCGGGGCCAGGA	0.652000														35			32		0	0	1	0	0
SNAI2	6591	broad.mit.edu	37	8	49832991	49832991	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr8:49832991G>A	uc003xqp.3	-	1	264	c.89C>T	c.(88-90)tCc>tTc	p.S30F		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	30					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S30F(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGATACGGGGAAATAATCAC	0.428000														87			86		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20942733	20942733	+	Splice_Site	SNP	A	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr14:20942733A>T	uc001vxo.4	+	3	431	c.285_splice	c.e3+1	p.K95_splice	PNP_uc010ahn.3_Missense_Mutation_p.K95M|PNP_uc021rns.1_5'Flank	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	95					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CCACTCTGGAAGGTAAGTCAG	0.532000														47			42		0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726766	46726766	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr11:46726766C>A	uc001nde.2	+	4	1797	c.1516C>A	c.(1516-1518)Cgt>Agt	p.R506S	ZNF408_uc010rgw.2_Missense_Mutation_p.R498S	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGGCGTTTCGTCAGCGGGG	0.657000														74			3		1	1	1	1	0
PDE7B	27115	broad.mit.edu	37	6	136476824	136476824	+	Silent	SNP	C	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr6:136476824C>T	uc003qgp.3	+	7	942	c.639C>T	c.(637-639)caC>caT	p.H213H	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Silent_p.H265H	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	213	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	CAGCAGCACACGATGTGGACC	0.488000														37			3		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92361349	92361349	+	Silent	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr14:92361349G>A	uc010aue.3	-	5	1043	c.570C>T	c.(568-570)ggC>ggT	p.G190G	FBLN5_uc010aud.3_Silent_p.G154G|FBLN5_uc001xzx.4_Silent_p.G149G	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	149	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				AGGTGTACCCGCCTTCAGTAT	0.522000														42			44		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927682	34927682	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr21:34927682C>A	uc002yse.1	+	2	6194	c.6145C>A	c.(6145-6147)Cgt>Agt	p.R2049S	SON_uc002ysb.1_Missense_Mutation_p.R2049S|SON_uc002ysc.3_Missense_Mutation_p.R2049S|SON_uc002ysd.3_Missense_Mutation_p.R1040S|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.R1040S	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	2049					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.K2048R(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATCACCCAAACGTCTGACAGA	0.393000														104			3		0.00909568	0.00945951	1	1	0
OR1S1	219959	broad.mit.edu	37	11	57982680	57982680	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr11:57982680T>C	uc010rkc.2	+	0	464	c.464T>C	c.(463-465)aTt>aCt	p.I155T		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				AGGTTCGGCATTTTGCTCACA	0.468000														227			5		0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38135567	38135567	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr19:38135567T>G	uc002ogv.1	-	3	596	c.80A>C	c.(79-81)cAg>cCg	p.Q27P	ZFP30_uc002ogw.1_Missense_Mutation_p.Q27P|ZFP30_uc002ogx.1_Missense_Mutation_p.Q27P|ZFP30_uc010xtt.1_Missense_Mutation_p.Q27P	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAAATTCCTCTGATATGAGTT	0.383000														63			48		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467459	74467459	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr15:74467459G>A	uc002axg.1	+	1	542	c.260G>A	c.(259-261)cGc>cAc	p.R87H	ISLR_uc002axh.1_Missense_Mutation_p.R87H|ISLR_uc021sqf.1_Missense_Mutation_p.R87H	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	87					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						AATGAGATCCGCACGGTGGCC	0.637000														42			3		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24123560	24123560	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr22:24123560T>G	uc002zxx.3	+	5	1061	c.1039T>G	c.(1039-1041)Ttc>Gtc	p.F347V	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	347	Hemopexin-like 2.				collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				GGACGCTGCCTTCGAGGATGC	0.647000														10			5		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2613668	2613668	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr12:2613668T>C	uc001qkm.2	+	7	1493	c.1180T>C	c.(1180-1182)Ttt>Ctt	p.F394L	CACNA1C_uc001qkc.2_Intron|CACNA1C_uc001qjz.2_Intron|CACNA1C_uc001qkd.2_Intron|CACNA1C_uc001qke.2_Intron|CACNA1C_uc001qkf.2_Intron|CACNA1C_uc009zdw.1_Intron|CACNA1C_uc001qkg.2_Intron|CACNA1C_uc001qkh.2_Intron|CACNA1C_uc001qkl.2_Intron|CACNA1C_uc001qkj.2_Missense_Mutation_p.F394L|CACNA1C_uc001qkk.2_Missense_Mutation_p.F394L|CACNA1C_uc001qkn.2_Missense_Mutation_p.F394L|CACNA1C_uc001qko.2_Intron|CACNA1C_uc001qkp.2_Intron|CACNA1C_uc001qkq.2_Intron|CACNA1C_uc001qku.2_Intron|CACNA1C_uc001qkr.2_Intron|CACNA1C_uc001qks.2_Intron|CACNA1C_uc001qkt.2_Intron|CACNA1C_uc009zdu.1_Intron|CACNA1C_uc009zdv.1_Intron|CACNA1C_uc001qkb.2_Intron|CACNA1C_uc001qka.1_Intron|CACNA1C_uc001qki.1_Missense_Mutation_p.F130L|CACNA1C_uc009zdy.1_Missense_Mutation_p.F19L|CACNA1C_uc001qkv.1_5'Flank	NM_001167625	NP_001161097	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 23, mRNA.	394					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTTTGGATCCTTTTTCGTTCT	0.488000														187			3		0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr3:113505224T>C	uc003eao.3	+	5	818	c.710T>C	c.(709-711)cTt>cCt	p.L237P	ATP6V1A_uc011bik.2_Missense_Mutation_p.L204P	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423000														223			4		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102739634	102739634	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr10:102739634G>A	uc001krw.2	+	8	1397	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc010qpt.1_Missense_Mutation_p.R338H|SEMA4G_uc001krx.3_Missense_Mutation_p.R338H|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	338	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCCATCTGCCGCTATGACCTG	0.602000														105			76		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828683	144828683	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr1:144828683C>G	uc009wig.1	+	21	2916	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	910								p.Q577E(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)		ATTTGAGGAACAGCACATCAG	0.438000														141			4		0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13514718	13514718	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr20:13514718G>A	uc002woi.3	-	8	863	c.746C>T	c.(745-747)gCt>gTt	p.A249V	TASP1_uc010zri.1_Intron|TASP1_uc010zrj.1_Non-coding_Transcript	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	249					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ACTGGAGACAGCAGCAGCAAC	0.483000														43			3		0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48426522	48426522	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr15:48426522A>C	uc001zwe.3	+	2	442	c.369A>C	c.(367-369)ttA>ttC	p.L123F	SLC24A5_uc010bel.3_Missense_Mutation_p.L63F	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	123					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCTGAATTAGTTACTGCTT	0.383000														19			21		0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329854	64329854	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr11:64329854G>T	uc001oai.3	+	3	1142	c.768G>T	c.(766-768)agG>agT	p.R256S	SLC22A11_uc001oah.1_Missense_Mutation_p.D222Y|SLC22A11_uc009ypq.3_Missense_Mutation_p.R256S|SLC22A11_uc001oak.1_Missense_Mutation_p.R85S	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	256					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GGGACTGGAGGACTCTCCAGC	0.637000														371			231		1.75812e-138	1.98743e-138	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66359321	66359321	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr11:66359321G>A	uc001oiq.4	-	0	1234	c.1166C>T	c.(1165-1167)cCa>cTa	p.P389L	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	389										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCCTGCAGCTGGGTGACGGGT	0.592000														40			164		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr2:107049631C>T	uc010ywi.1	-	15	2373	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	772					intracellular transport		binding	p.A772A(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373000														128			4		0	0	1	0	0
TP53RK	112858	broad.mit.edu	37	20	45315670	45315670	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr20:45315670C>A	uc002xsk.3	-	1	707	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	162	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTGGTGAGATCACCATGAATG	0.493000														84			89		6.42612e-47	6.96163e-47	1	1	0
CDH23	64072	broad.mit.edu	37	10	73270925	73270925	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr10:73270925G>A	uc001jrx.4	+	5	775	c.385G>A	c.(385-387)Gcg>Acg	p.A129T	CDH23_uc001jrw.4_Missense_Mutation_p.A129T|CDH23_uc001jry.3_Missense_Mutation_p.A129T|CDH23_uc001jrz.3_Missense_Mutation_p.A129T|CDH23_uc021psl.1_Missense_Mutation_p.A129T|CDH23_uc001jrv.3_Missense_Mutation_p.A124T|CDH23_uc009xql.3_Missense_Mutation_p.A129T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	129	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GAATGACAACGCGCCCACATT	0.582000														102			60		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558816	129558816	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr12:129558816G>T	uc009zyl.1	-	8	3232	c.2904C>A	c.(2902-2904)agC>agA	p.S968R	TMEM132D_uc001uia.2_Missense_Mutation_p.S506R	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	968						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGTCCGGTTGCTTAACCCAA	0.463000														4			102		3.44186e-60	3.80802e-60	1	1	0
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr18:14513764C>T	uc010dln.3	-	9	1884	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	477								p.R477Q(24)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358000														43			3		0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53777218	53777218	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr12:53777218G>C	uc001scw.3	+	2	1584	c.1487G>C	c.(1486-1488)aGc>aCc	p.S496T	SP1_uc021qyf.1_Missense_Mutation_p.S448T|SP1_uc010sog.2_Missense_Mutation_p.S489T	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	496	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGGCAGACCAGCAGCAGCAAC	0.552000														164			3		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617776	111617776	+	Silent	SNP	G	A	A	rs149121708	byFrequency	TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr9:111617776G>A	uc004bdi.3	-	0	500	c.435C>T	c.(433-435)caC>caT	p.H145H		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	145						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGCACAGCGTGCTCCTCGG	0.622000														36			34		0	0	1	0	0
UBC	7316	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr17:21730847G>T	uc002gyy.3	+	1	274	c.149G>T	c.(148-150)cGg>cTg	p.R50L				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	202	Ubiquitin-like 1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCAAGCAGCGGGAAGATGGC	0.522000														58			4		0.00909568	0.00945951	1	1	0
POFUT1	23509	broad.mit.edu	37	20	30797937	30797937	+	Missense_Mutation	SNP	G	A	A	rs148829108		TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr20:30797937G>A	uc002wxp.3	+	1	237	c.188G>A	c.(187-189)cGt>cAt	p.R63H	POFUT1_uc002wxo.3_Missense_Mutation_p.R63H|POFUT1_uc010ztt.2_Intron|POFUT1_uc010ztu.2_Intron|PLAGL2_uc002wxn.2_5'Flank	NM_015352	NP_056167	Q9H488	OFUT1_HUMAN	Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA.	63					Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGCTAAACCGTACCTTGGCT	0.552000														189			4		0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71201984	71201984	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr11:71201984G>C	uc001oqn.3	+	16	1782	c.1656G>C	c.(1654-1656)caG>caC	p.Q552H	NADSYN1_uc001oqo.3_Missense_Mutation_p.Q292H|NADSYN1_uc001oqp.3_Missense_Mutation_p.Q181H	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	552	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTTCGTCCAGTTCTGCATCC	0.647000														202			33		0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														9			4		0	0	1	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75373755	75373755	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr14:75373755A>G	uc010tux.2	-	10	2140	c.1612T>C	c.(1612-1614)Ttt>Ctt	p.F538L	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_3'UTR|RPS6KL1_uc021rwp.1_Missense_Mutation_p.F507L	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	538	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTACTGAAAAAGGGATGGGAC	0.612000														340			4		0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267483	198267483	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr2:198267483C>T	uc002uue.3	-	13	1922	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	625					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.R625L(21)|p.R625?(9)|p.R625C(9)|p.R625P(4)|p.R625H(3)|p.R625G(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTGTGTTACGGACATACTC	0.438000			Mis		myelodysplastic syndrome									13			28		0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr19:3118942A>T	uc002lxd.3	+	4	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	209					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(217)|p.Q209P(6)|p.Q209K(1)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612000			Mis		uveal melanoma									48			39		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232575079	232575079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr1:232575079G>A	uc001hvg.3	-	12	3964	c.3806C>T	c.(3805-3807)aCg>aTg	p.T1269M	SIPA1L2_uc001hvf.3_Missense_Mutation_p.T343M	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1269					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGGGGGCCGTGTCGATGCC	0.642000														84			3		0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														36			4		0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr19:58385546G>T	uc002qqo.2	-	2	1484	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(20)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000														17			3		1	1	1	1	0
MTMR11	10903	broad.mit.edu	37	1	149904215	149904215	+	Silent	SNP	A	T	T			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr1:149904215A>T	uc001etl.4	-	10	1244	c.993T>A	c.(991-993)tcT>tcA	p.S331S	MTMR11_uc001etm.2_Silent_p.S259S|MTMR11_uc010pbm.1_Silent_p.S303S|MTMR11_uc010pbn.1_Silent_p.S173S	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	331	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCAGCTACAGATGAATCTG	0.448000														105			112		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46122243	46122243	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr10:46122243T>G	uc001jcp.4	-	6	1270	c.1028A>C	c.(1027-1029)cAt>cCt	p.H343P	ZFAND4_uc001jcl.4_5'UTR|ZFAND4_uc001jcm.4_Missense_Mutation_p.H343P|ZFAND4_uc009xmu.3_Missense_Mutation_p.H269P|ZFAND4_uc001jcn.4_Missense_Mutation_p.H269P|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	343							zinc ion binding										CAACTCCAAATGGGGTATCTG	0.428000														39			30		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16699620	16699620	+	Frame_Shift_Del	DEL	C	-	-			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr5:16699620delC	uc003jft.4	-	25	3963	c.3495delG	c.(3493-3495)cggfs	p.R1165fs	MYO10_uc011cnc.2_Frame_Shift_Del_p.R44fs|MYO10_uc011cnd.2_Frame_Shift_Del_p.R522fs|MYO10_uc011cne.2_Frame_Shift_Del_p.R522fs|MYO10_uc010itx.3_Frame_Shift_Del_p.R788fs	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1165					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CAGAGTCACGCCGGTATGAAA	0.498													---	57	---	---	32	---					
FYN	2534	broad.mit.edu	37	6	111983042	111983042	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr6:111983042delT	uc003pvj.3	-	12	1854	c.1514delA	c.(1513-1515)aagfs	p.K505fs	FYN_uc003pvi.3_Frame_Shift_Del_p.K450fs|FYN_uc003pvk.3_Frame_Shift_Del_p.K505fs|FYN_uc003pvh.3_Frame_Shift_Del_p.K502fs	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	505	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562													---	351	---	---	7	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	-	-			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr10:30316501_30316503delCTG	uc009xle.2	-	2	2711_2713	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S	KIAA1462_uc001iux.3_In_Frame_Del_p.858_859SS>S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Del_p.720_721SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													---	136	---	---	9	---					
AMHR2	269	broad.mit.edu	37	12	53818999	53819001	+	In_Frame_Del	DEL	CTG	-	-			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr12:53818999_53819001delCTG	uc001scx.2	+	3	555_557	c.475_477delCTG	c.(475-477)ctgdel	p.L162del	AMHR2_uc009zmy.2_In_Frame_Del_p.L162del|AMHR2_uc021qyg.1_In_Frame_Del_p.L162del	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	162					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTCCTCCTCCTGCTGCTGCTGG	0.591													---	215	---	---	7	---					
CEP290	80184	broad.mit.edu	37	12	88487681	88487681	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr12:88487681delT	uc001tar.3	-	27	3519	c.3175delA	c.(3175-3177)atafs	p.I1059fs	CEP290_uc001taq.3_Frame_Shift_Del_p.I119fs|CEP290_uc001tat.3_Frame_Shift_Del_p.I852fs	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	1059					G2/M transition of mitotic cell cycle|cilium assembly|eye photoreceptor cell development|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCATAGTTATTTTTTTTGAA	0.338													---	46	---	---	7	---					
VPS53	55275	broad.mit.edu	37	17	465775	465775	+	Frame_Shift_Del	DEL	G	-	-	rs2075443	byFrequency	TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr17:465775delG	uc010cjo.2	-	13	1671	c.1524delC	c.(1522-1524)tacfs	p.Y508fs	VPS53_uc002frk.3_Frame_Shift_Del_p.Y27fs|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Frame_Shift_Del_p.Y479fs|VPS53_uc002frn.2_Frame_Shift_Del_p.Y508fs|VPS53_uc002fro.2_Frame_Shift_Del_p.Y310fs|VPS53_uc010cjp.1_Frame_Shift_Del_p.Y231fs	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	508					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TTTTCCAGGCGTATTCTCGGA	0.483													---	57	---	---	58	---					
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A3ES-06A-11D-A20D-08	TCGA-ER-A3ES-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73914542-306e-4dfb-a6d2-538baa7344f2	61178f55-37d8-4c86-b1f3-3480d4f7a494	g.chr19:16908642delT	uc002neu.4	+	15	3826	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_uc002net.4_Frame_Shift_Del_p.V1000fs|NWD1_uc002nev.4_Frame_Shift_Del_p.V929fs|NWD1_uc021uqg.1_Frame_Shift_Del_p.V1000fs	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1135							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552													---	554	---	---	7	---