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
OBSCN	84033	broad.mit.edu	37	1	228465550	228465550	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:228465550C>T	ENST00000570156.2	+	30	8211	c.8137C>T	c.(8137-8139)Cga>Tga	p.R2713*	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R2284*|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1710	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCCAGCTCCGAGTGAAGGG	0.632000													20	19					0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155555776	155555776	+	Silent	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:155555776C>G	ENST00000295101.2	+	1	966	c.489C>G	c.(487-489)ctC>ctG	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572000													22	24					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995605	144995605	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:144995605C>T	ENST00000322810.4	-	32	8964	c.8795G>A	c.(8794-8796)gGc>gAc	p.G2932D	PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D|PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2932	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACGATGAGGCCCTTCTGCAT	0.672000													4	78					0	0	1	0	0
OSBPL10	114884	broad.mit.edu	37	3	31774775	31774775	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:31774775C>G	ENST00000396556.2	-	6	1191	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	357					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTTTGTTCGTCTTCAGCA	0.453000													18	60					0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406056	55406056	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:55406056G>T	ENST00000314612.2	+	1	223	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACATCCACAGTGACCCCCAA	0.408000													52	71					6.3008e-33	6.68657e-33	1	1	0
GLB1L	79411	broad.mit.edu	37	2	220101997	220101997	+	Missense_Mutation	SNP	C	C	T	rs144432913		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:220101997C>T	ENST00000295759.7	-	17	2075	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	588					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTTGGCACGTAGAGGGTC	0.512000													5	35					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76890125	76890125	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chrX:76890125C>T	ENST00000373344.5	-	17	4983	c.4769G>A	c.(4768-4770)tGc>tAc	p.C1590Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1590	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGCAAGAATGCATCCTGAACC	0.358000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						42	3					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73450310	73450310	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:73450310C>T	ENST00000224721.6	+	19	2165	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G	CDH23_ENST00000299366.7_Silent_p.G760G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	715	Cadherin 7.				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						CCTTGGAAGGCTCCACCCAGT	0.622000													2	1					0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124664297	124664297	+	Silent	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:124664297G>A	ENST00000325995.7	-	1	893	c.870C>T	c.(868-870)ggC>ggT	p.G290G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	290										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCCTTCCGCCCAAGAGGA	0.547000													75	41					0	0	1	0	0
OGFOD3	79701	broad.mit.edu	37	17	80361821	80361821	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:80361821C>T	ENST00000313056.5	-	7	842	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	OGFOD3_ENST00000329197.5_Missense_Mutation_p.V231M	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		ACCTTGTCCACGTGCGCATGC	0.672000													3	6					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57193592	57193592	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:57193592C>T	ENST00000395123.2	-	3	358	c.54G>A	c.(52-54)ctG>ctA	p.L18L	SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000395124.1_Silent_p.L18L|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	18					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGGCATTCCAGCAGCCCAG	0.552000													12	88					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120263899	120263899	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:120263899A>G	ENST00000369407.3	+	1	1650	c.143A>G	c.(142-144)aAt>aGt	p.N48S	PHGDH_ENST00000369409.4_Missense_Mutation_p.N82S			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	82					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGTGTGGACAATGTGGATCTG	0.582000													16	69					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97605280	97605280	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:97605280A>G	ENST00000371203.5	+	5	913	c.326A>G	c.(325-327)aAt>aGt	p.N109S	ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000371205.4_Missense_Mutation_p.N247S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	247					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AAGGACTACAATGTCTACACA	0.488000													39	44					0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131972886	131972886	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr5:131972886G>A	ENST00000378823.3	+	22	3870	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	AC004041.2_ENST00000457489.1_RNA|RAD50_ENST00000265335.6_Missense_Mutation_p.G1157R	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1157					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACCTATCGTGGACAAGGTGA	0.433000								Homologous recombination					75	112					0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129929056	129929056	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr6:129929056C>G	ENST00000368149.2	-	9	1352	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	422	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCTGAAAGGCTTTGAGATAC	0.468000													24	17					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57586737	57586737	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:57586737T>A	ENST00000243077.3	+	45	8005	c.7539T>A	c.(7537-7539)gaT>gaA	p.D2513E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2513	EGF-like 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTCCAGGATGACCTCACCT	0.642000													14	34					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48618703	48618703	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:48618703C>T	ENST00000328333.8	-	51	4996	c.4889G>A	c.(4888-4890)cGa>cAa	p.R1630Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1630	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTCGTCCTCGGGGGCCAAC	0.642000													3	21					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187530420	187530420	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr4:187530420T>G	ENST00000441802.2	-	16	10332	c.10123A>C	c.(10123-10125)Ata>Cta	p.I3375L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3375	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCCATCTATAATTGAGTAG	0.488000										HNSCC(5;0.00058)			11	13					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	250					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32266690	32266690	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:32266690G>A	ENST00000400246.1	+	34	3587	c.3445G>A	c.(3445-3447)Gga>Aga	p.G1149R	DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000539165.1_5'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000400248.1_Missense_Mutation_p.G1118R|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G1140R			O75140	DEPD5_HUMAN	DEP domain containing 5	1118					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAGAACATAGGAGAACAGGG	0.532000													10	28					0	0	1	0	0
IGHV3-21	0	broad.mit.edu	37	14	106691787	106691787	+	RNA	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:106691787G>A	ENST00000390607.2	-	0	315																											CTGAGTCTGCGTAGTATATGT	0.517000													53	55					0	0	1	0	0
TRAV7	0	broad.mit.edu	37	14	22251215	22251215	+	RNA	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:22251215G>A	ENST00000390429.3	+	0	6																											TCAGGATGGAGAAGATGCGGA	0.358000													8	15					0	0	1	0	0
RAMP3	10268	broad.mit.edu	37	7	45222877	45222877	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:45222877A>G	ENST00000242249.4	+	3	351	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A|RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	105					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTCCAACTGCACCGTGGACAG	0.622000													39	50					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673742	8673742	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:8673742G>A	ENST00000299665.2	+	6	716	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	175	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAATGAACCCGACAACTCTCA	0.338000													19	22					0	0	1	0	0
RNF26	79102	broad.mit.edu	37	11	119206053	119206053	+	Missense_Mutation	SNP	G	G	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:119206053G>T	ENST00000311413.4	+	1	817	c.221G>T	c.(220-222)cGg>cTg	p.R74L		NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	74	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCGTGGTCCGGTTCACATGT	0.587000													41	110					7.63091e-17	7.93615e-17	1	1	0
ANLN	54443	broad.mit.edu	37	7	36462334	36462334	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:36462334A>G	ENST00000265748.2	+	14	2613	c.2392A>G	c.(2392-2394)Atg>Gtg	p.M798V	ANLN_ENST00000396068.2_Missense_Mutation_p.M761V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	798	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAGTGAATTTATGCCATCCAA	0.398000													36	49					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								17	15					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272726	1272726	+	Silent	SNP	A	A	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:1272726A>T	ENST00000447027.1	+	31	14683	c.14625A>T	c.(14623-14625)ggA>ggT	p.G4875G	MUC5B_ENST00000529681.1_Silent_p.G4872G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4872	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTCTGGGAACAGCTCACA	0.662000													25	26					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													3	29					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25932867	25932867	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr15:25932867A>G	ENST00000356865.6	-	16	3385	c.3274T>C	c.(3274-3276)Ttc>Ctc	p.F1092L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1092					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGTAGAAGAAGTACAGCACC	0.498000													29	56					0	0	1	0	0
APOE	348	broad.mit.edu	37	19	45411116	45411116	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr19:45411116T>G	ENST00000252486.4	+	3	254	c.143T>G	c.(142-144)cTg>cGg	p.L48R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	48					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAACTGGCACTGGGTCGCTTT	0.652000													11	16					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24753686	24753686	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:24753686C>G	ENST00000336930.6	+	3	269	c.203C>G	c.(202-204)tCt>tGt	p.S68C	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	68						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGAGCAGTCTGCCAAAACT	0.338000													6	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455517	179455517	+	Missense_Mutation	SNP	T	T	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:179455517T>G	ENST00000589042.1	-	304	61159	c.60935A>C	c.(60934-60936)gAa>gCa	p.E20312A	TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18671A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18671							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGTTACTTCTCGACGTTC	0.438000													36	42					0	0	1	0	0
DPEP3	64180	broad.mit.edu	37	16	68010039	68010039	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr16:68010039A>G	ENST00000268793.4	-	9	1635	c.1262T>C	c.(1261-1263)gTc>gCc	p.V421A		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	396					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCACGAAGGACACCTTGAAG	0.557000													50	89					0	0	1	0	0
PROCR	10544	broad.mit.edu	37	20	33762688	33762688	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:33762688G>A	ENST00000216968.4	+	2	336	c.254G>A	c.(253-255)gGc>gAc	p.G85D	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	85					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	ACGCAGAGTGGCCTGCAGTCC	0.677000													14	13					0	0	1	0	0
SSSCA1	10534	broad.mit.edu	37	11	65338967	65338967	+	Missense_Mutation	SNP	G	G	C			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:65338967G>C	ENST00000531405.1	+	3	487	c.251G>C	c.(250-252)cGt>cCt	p.R84P	SSSCA1_ENST00000309328.3_Missense_Mutation_p.R121P|SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000527920.1_Intron			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	121					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCAGTACCTCGTCCGGAGCAC	0.662000													7	86					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9400537	9400537	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:9400537C>G	ENST00000378501.2	+	22	2114	c.2099C>G	c.(2098-2100)gCa>gGa	p.A700G	PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000378493.1_Missense_Mutation_p.A700G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	700	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGTGTTATTGCAGCCACTTGC	0.423000													13	61					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234546220	234546220	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:234546220C>G	ENST00000040877.1	-	23	3762	c.3763G>C	c.(3763-3765)Gac>Cac	p.D1255H		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1255					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTAATAATGTCTAAATGTGAT	0.244000													13	17					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768516	57768516	+	Silent	SNP	G	G	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:57768516G>A	ENST00000371030.2	+	1	2442	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	814						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCTCAGGGGAGGACAAGC	0.642000													4	30					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGAACTGTTACACATGTAGTT	0.572000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			20	3					5.26018e-13	5.36332e-13	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153912182	153912182	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:153912182C>T	ENST00000361217.4	-	12	2120	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	568	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGGCTCCTTGGACTTCG	0.627000													18	47					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551088	248551088	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:248551088A>G	ENST00000355728.2	+	1	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCCATGTACTTCCTCCTC	0.483000													10	39					0	0	1	0	0
HNRNPC	3183	broad.mit.edu	37	14	21702141	21702141	+	Missense_Mutation	SNP	T	T	A			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:21702141T>A	ENST00000430246.2	-	2	3163	c.212A>T	c.(211-213)gAt>gTt	p.D71V	HNRNPC_ENST00000320084.7_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	71	RRM.					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATTCTGCCATCCTCTCCTGC	0.413000													39	42					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847986	18847986	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:18847986A>T	ENST00000266505.7	-	12	1582	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L222Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	440	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATCCATGGGCAGACCAGGGGT	0.353000													19	51					0	0	1	0	0
PTER	9317	broad.mit.edu	37	10	16526678	16526678	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:16526678A>G	ENST00000378000.1	+	3	541	c.295A>G	c.(295-297)Aca>Gca	p.T99A	PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GGTGGAAAACACAACCACTGG	0.443000													23	32					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	41					0	0	1	0	0
RP11-343N15.1	0	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													2	4	---	---	---	---					
SCAP	22937	broad.mit.edu	37	3	47455478	47455481	+	Frame_Shift_Del	DEL	CTGT	CTGT	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:47455478_47455481delCTGT	ENST00000265565.5	-	23	4115_4118	c.3703_3706delACAG	c.(3703-3708)tcfs	p.TV1235fs	SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs|SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1235	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAGGTAGACTGTCTGTAACAGG	0.583													8	210	---	---	---	---					
XRRA1	143570	broad.mit.edu	37	11	74618234	74618235	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:74618234_74618235delTC	ENST00000340360.6	-	9	1047_1048	c.716_717delGA	c.(715-717)afs	p.R239fs	XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs|RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	239					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTTGGAGAGTCTGTTGTCATC	0.550													38	78	---	---	---	---					
EXOC3L4	91828	broad.mit.edu	37	14	103571146	103571146	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:103571146delC	ENST00000380069.3	+	5	1432	c.1356delC	c.(1354-1356)tgfs	p.C452fs		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	452										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGCGAATCTGCACGCGGGCGC	0.721													2	4	---	---	---	---					
AC011537.3	0	broad.mit.edu	37	19	15880338	15880340	+	RNA	DEL	CTT	CTT	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr19:15880338_15880340delCTT	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							TCCCTTCCCACTTGGGGAGCAGA	0.493													21	17	---	---	---	---					
PICK1	9463	broad.mit.edu	37	22	38455269	38455269	+	Frame_Shift_Del	DEL	A	A	-			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:38455269delA	ENST00000404072.3	+	3	417	c.70delA	c.(70-72)ccfs	p.T24fs	PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	24	PDZ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGGGAAGGTGACCCTGCAGAA	0.567													2	4	---	---	---	---					
