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
PLCB1	23236	broad.mit.edu	37	20	8770880	8770880	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr20:8770880G>A	uc002wnb.3	+	30	3398	c.3395G>A	c.(3394-3396)cGt>cAt	p.R1132H	PLCB1_uc002wna.3_Missense_Mutation_p.R1132H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1132					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGGAAATACGTCAGCAGATC	0.338000														106			19		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889464	30889464	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr6:30889464G>C	uc011dmz.2	+	17	1902	c.1821G>C	c.(1819-1821)gaG>gaC	p.E607D	VARS2_uc003nsc.2_Missense_Mutation_p.E577D|VARS2_uc011dmx.2_Missense_Mutation_p.E577D|VARS2_uc011dmy.2_Missense_Mutation_p.E437D|VARS2_uc011dna.2_Missense_Mutation_p.E575D|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'UTR|VARS2_uc010jsg.2_5'UTR|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	577					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TGACCCTGGAGAGGGGTGAGT	0.632000														23			3		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506759	155506759	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr4:155506759C>T	uc003iod.1	-	4	1880	c.1822G>A	c.(1822-1824)Gga>Aga	p.G608R	FGA_uc003ioe.1_Missense_Mutation_p.G608R|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	608					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCTTCACTTCCGGCCTCATCT	0.453000														265			8		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159197	152159197	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:152159197G>A	uc022chn.1	-	0	946	c.946C>T	c.(946-948)Ccc>Tcc	p.P316S	PNMA5_uc010ntx.3_Missense_Mutation_p.P316S|PNMA5_uc010ntw.3_Missense_Mutation_p.P316S|PNMA5_uc004fgy.4_Missense_Mutation_p.P316S|PNMA5_uc022chm.1_Missense_Mutation_p.P316S	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	316					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAAATTGGGAGGACACCCT	0.532000														25			15		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12316009	12316009	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:12316009G>A	uc001mkg.1	+	2	1322	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	344					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CCTGCCCTCCGCACCCACAGT	0.552000														48			10		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50348998	50348998	+	Silent	SNP	T	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:50348998T>A	uc002egd.1	+	23	3313	c.3045T>A	c.(3043-3045)acT>acA	p.T1015T		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	1015	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GGGGAAACACTGTCAATGTGG	0.483000														59			12		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32831775	32831775	+	Silent	SNP	A	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr22:32831775A>T	uc003amn.2	-	7	840	c.840T>A	c.(838-840)atT>atA	p.I280I	BPIFC_uc010gwo.2_Silent_p.I94I|BPIFC_uc011amb.1_Silent_p.I4I	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	280						extracellular region	lipopolysaccharide binding|phospholipid binding										CGGCGATTCCAATGTAGAGCA	0.498000														24			23		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235138	50235138	+	Missense_Mutation	SNP	T	G	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr13:50235138T>G	uc001vdg.3	-	3	650	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	196					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.Q196P(4)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383000														108			4		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17280821	17280821	+	Missense_Mutation	SNP	G	C	C	rs6669627		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:17280821G>C	uc001azt.2	+	21	3359	c.3290G>C	c.(3289-3291)cGa>cCa	p.R1097P	CROCC_uc009voz.1_Missense_Mutation_p.R696P|CROCC_uc001azu.2_Missense_Mutation_p.R400P	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1097			R -> P (in dbSNP:rs6669627).		cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGGCAGAAACGAGATGCCCAG	0.627000														64			6		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531376	92531376	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:92531376C>T	uc001pdj.4	+	8	5214	c.5197C>T	c.(5197-5199)Cgc>Tgc	p.R1733C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1733	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGATTATGAGCGCACATCCTC	0.403000										TCGA Ovarian(4;0.039)				218			6		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	C	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr13:50235160G>C	uc001vdg.3	-	3	628	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	189					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(18)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418000														106			4		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22176895	22176895	+	Missense_Mutation	SNP	A	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:22176895A>T	uc009vqd.3	-	55	7298	c.7258T>A	c.(7258-7260)Tct>Act	p.S2420T	HSPG2_uc001bfj.3_Missense_Mutation_p.S2419T	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2419	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACCAGGACAGAGGCCTCTAGA	0.677000														40			41		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38224599	38224599	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:38224599C>T	uc002rqn.2	+	7	1646	c.1520C>T	c.(1519-1521)aCt>aTt	p.T507I	FAM82A1_uc002rqk.1_Missense_Mutation_p.T184I|FAM82A1_uc002rql.3_Missense_Mutation_p.T329I|FAM82A1_uc021vga.1_Missense_Mutation_p.T329I|FAM82A1_uc002rqm.3_Missense_Mutation_p.T184I	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	329						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						ATGGCTGCTACTCTGTTTGGA	0.348000														59			10		0	0	1	0	0
PECR	55825	broad.mit.edu	37	2	216946400	216946400	+	Missense_Mutation	SNP	A	C	C			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:216946400A>C	uc002vft.3	-	0	140	c.65T>G	c.(64-66)aTc>aGc	p.I22S	PECR_uc010zjq.2_Non-coding_Transcript|TMEM169_uc010zjr.2_5'Flank|TMEM169_uc010zjs.2_5'Flank|TMEM169_uc002vfw.3_5'Flank|TMEM169_uc002vfv.4_5'Flank	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	22				I -> F (in Ref. 2; CAB89810).	fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	GCCGGTGACGATGGCCACTTG	0.682000														80			5		0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156622489	156622489	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:156622489G>A	uc001fpp.3	+	7	2083	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	BCAN_uc001fpo.3_Missense_Mutation_p.E583K	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	583					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGAGAGAGCGAGGAGACAGG	0.622000														37			3		0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8775578	8775578	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr3:8775578C>T	uc003bra.3	+	0	93	c.16C>T	c.(16-18)Cac>Tac	p.H6Y	C3orf32_uc003bqz.3_Intron|CAV3_uc003brb.3_Missense_Mutation_p.H6Y	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	6					T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GGCAGAAGAGCACACAGATCT	0.547000														115			4		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774176	140774176	+	Missense_Mutation	SNP	G	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr5:140774176G>T	uc003lkd.2	+	0	2694	c.1796G>T	c.(1795-1797)gGc>gTc	p.G599V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.G599V|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	600	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G599V(3)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGACTCGGGCCAGAACGCC	0.706000														58			8		0.000157383	0.000157383	1	1	0
OR5M3	219482	broad.mit.edu	37	11	56237919	56237919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr11:56237919G>A	uc010rjk.2	-	0	96	c.55C>T	c.(55-57)Cga>Tga	p.R19*	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R18H(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCATTCTCGACGGCTCGTT	0.403000														68			3		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751676	19751676	+	Silent	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr13:19751676G>A	uc009zzj.3	-	3	552	c.447C>T	c.(445-447)ttC>ttT	p.F149F		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	149					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GCAGAGATGCGAACCCAGAGC	0.567000														142			5		0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131813240	131813240	+	Silent	SNP	C	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:131813240C>T	uc002tsd.3	-	3	412	c.183G>A	c.(181-183)gtG>gtA	p.V61V		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	61										endometrium(3)|lung(2)	5						GGGAACAGGACACTTTGTAAG	0.617000														12			18		0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2228035	2228035	+	Silent	SNP	A	G	G			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr17:2228035A>G	uc002fuj.3	-	12	3066	c.2109T>C	c.(2107-2109)ccT>ccC	p.P703P	SRR_uc002fue.1_3'UTR|SRR_uc002fui.1_3'UTR	NM_018128	NP_060598	Q2NL82	TSR1_HUMAN	Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.	703					ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AAATTTTGAAAGGATGACCAC	0.418000														102			4		0	0	1	0	0
WASH1	100287171	broad.mit.edu	37	16	67326	67326	+	Silent	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:67326G>A	uc002cfg.1	-	3	1208	c.549C>T	c.(547-549)gtC>gtT	p.V183V		NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	170					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCAAGGAGCTGACAGAGCTGA	0.612000											OREG0003691	type=REGULATORY REGION|Gene=BC063682|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		30			4		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160807853	160807853	+	Missense_Mutation	SNP	C	T	T			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr2:160807853C>T	uc002ube.2	-	23	3750	c.3538G>A	c.(3538-3540)Gat>Aat	p.D1180N	PLA2R1_uc010zcp.2_Missense_Mutation_p.D1180N|PLA2R1_uc002ubf.3_Missense_Mutation_p.D1180N	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	1180	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						ATACCTACATCTGTGGTGAAC	0.448000														57			3		0	0	1	0	0
PTGFRN	5738	broad.mit.edu	37	1	117491967	117491967	+	Missense_Mutation	SNP	G	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:117491967G>A	uc001egv.1	+	3	1123	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	329	Ig-like C2-type 3.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding	p.R329S(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCTGGCTCCCGCGTGTTGGCG	0.592000														59			5		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994357	140994357	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:140994357C>A	uc004fbt.3	+	3	1491	c.1167C>A	c.(1165-1167)ttC>ttA	p.F389L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.F48L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	389							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTCTTTTCCAGAGTTCCC	0.488000										HNSCC(15;0.026)				146			4		1.23904e-05	1.2886e-05	1	1	0
GJB3	2707	broad.mit.edu	37	1	35250386	35250386	+	Missense_Mutation	SNP	C	A	A			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:35250386C>A	uc001bxz.4	+	0	23	c.23C>A	c.(22-24)gCc>gAc	p.A8D	GJB3_uc001bxx.3_Missense_Mutation_p.A8D|GJB3_uc001bxy.3_Missense_Mutation_p.A8D	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	8					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACACTCCAGGCCCTACTGAGC	0.552000														42			5		1.06961e-07	1.15875e-07	1	1	0
AGRN	375790	broad.mit.edu	37	1	983491	983493	+	In_Frame_Del	DEL	TGA	-	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr1:983491_983493delTGA	uc001ack.2	+	22	3901_3903	c.3851_3853delTGA	c.(3850-3855)gtgacc>gcc	p.1284_1285VT>A		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1284	Ser/Thr-rich.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TCCTCTGCTGTGACCCCTCGGGC	0.695													---	4	---	---	2	---					
DLX6	1750	broad.mit.edu	37	7	96635389	96635391	+	In_Frame_Del	DEL	CAG	-	-	rs35478952		TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr7:96635389_96635391delCAG	uc022ahu.1	+	0	100_102	c.100_102delCAG	c.(100-102)cagdel	p.Q44del	DLX6-AS1_uc003uok.3_5'Flank|DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.680													---	4	---	---	2	---					
LPAR5	57121	broad.mit.edu	37	12	6729661	6729663	+	In_Frame_Del	DEL	TGT	-	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:6729661_6729663delTGT	uc009zer.2	-	1	1033_1035	c.752_754delACA	c.(751-756)aacagc>agc	p.N251del	LPAR5_uc001qps.2_In_Frame_Del_p.N251del|LPAR5_uc010sff.1_In_Frame_Del_p.N251del|LPAR5_uc021qub.1_In_Frame_Del_p.N251del	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	251						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GCCAGCGTGCTGTTGTAGGGCAC	0.700													---	4	---	---	2	---					
HDAC7	51564	broad.mit.edu	37	12	48189416	48189416	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr12:48189416delG	uc010slo.2	-	9	1236	c.1041delC	c.(1039-1041)cccfs	p.P347fs	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Frame_Shift_Del_p.P310fs|HDAC7_uc001rqk.4_Frame_Shift_Del_p.P330fs	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	308	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		GGAGGAGAATGGGCTGCAGGC	0.677													---	44	---	---	16	---					
RBBP6	5930	broad.mit.edu	37	16	24582960	24582960	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chr16:24582960delG	uc002dmh.3	+	17	5613	c.4573delG	c.(4573-4575)ggafs	p.G1525fs	RBBP6_uc002dmi.3_Frame_Shift_Del_p.G1491fs|RBBP6_uc010bxr.3_Frame_Shift_Del_p.G685fs|RBBP6_uc002dmk.3_Frame_Shift_Del_p.G1358fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1525	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GCCTAAAAAAGGAACAGGAGA	0.378													---	195	---	---	111	---					
RPGR	6103	broad.mit.edu	37	X	38145423	38145423	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KL-8332-01A-11D-2310-10	TCGA-KL-8332-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6d6f49e-6e95-4e41-8388-71f6fe017d80	1f3af48c-ba6b-4db5-ba11-75b7f50fae1e	g.chrX:38145423delA	uc004ded.1	-	14	2997	c.2829delT	c.(2827-2829)gatfs	p.D943fs	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	741					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ccccttctccatcctcccctt	0.612													---	4	---	---	3	---					
