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
ACAA2	10449	broad.mit.edu	37	18	47311703	47311703	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:47311703G>A	ENST00000285093.10	-	9	1448	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	ACAA2_ENST00000589432.1_Missense_Mutation_p.P270S|ACAA2_ENST00000587994.1_Missense_Mutation_p.P322S	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	325					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGTACTGGGGAGCAAAAGCT	0.403000													5	24					0	0	0.000602	0	0
KMT2C	58508	broad.mit.edu	37	7	151945104	151945104	+	Missense_Mutation	SNP	A	A	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:151945104A>T	ENST00000355193.2	-	14	2633	c.2415T>A	c.(2413-2415)agT>agA	p.S805R	KMT2C_ENST00000262189.6_Missense_Mutation_p.S805R					lysine (K)-specific methyltransferase 2C																		CAGCAGAGGAACTAAGAGCTG	0.438000													51	794					0	0	0.014410	0	0
BCOR	54880	broad.mit.edu	37	X	39932304	39932304	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:39932304G>A	ENST00000342274.4	-	4	2657	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_ENST00000378444.4_Silent_p.S765S|BCOR_ENST00000378455.4_Silent_p.S765S|BCOR_ENST00000397354.3_Silent_p.S765S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	765					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						99	209					0	0	0.014410	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849433	98849433	+	RNA	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:98849433C>T	ENST00000554295.1	-	0	1490					NR_033801.1																						AGATGGCCAACGCAAATGCCA	0.522000													3	43					0	0	0.004672	0	0
SF3B1	23451	broad.mit.edu	37	2	198273241	198273241	+	Silent	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:198273241A>G	ENST00000335508.6	-	8	1060	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGTTTCACCAATAGAATCTC	0.468000			Mis		myelodysplastic syndrome								31	71					0	0	0.010818	0	0
ZNF41	7592	broad.mit.edu	37	X	47308566	47308566	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:47308566G>T	ENST00000377065.4	-	5	1242	c.603C>A	c.(601-603)aaC>aaA	p.N201K	ZNF41_ENST00000313116.7_Missense_Mutation_p.N201K|ZNF41_ENST00000397050.2_Missense_Mutation_p.N211K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N201K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GATTATGTGAGTTTAAAGTAT	0.328000													46	117					6.87076e-12	8.28854e-12	0.014410	1	0
NF1	4763	broad.mit.edu	37	17	29563007	29563007	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:29563007G>A	ENST00000358273.4	+	29	4325	c.3942G>A	c.(3940-3942)tgG>tgA	p.W1314*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W1314*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1314	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTCTGATTGGCAACATGTTA	0.348000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			31	43					0	0	0.013726	0	0
PKP2	5318	broad.mit.edu	37	12	32974416	32974416	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:32974416G>A	ENST00000340811.4	-	9	1995	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PKP2_ENST00000070846.6_Silent_p.G673G	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	673					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCACTCCACGCCCTTGGGGT	0.493000													22	72					0	0	0.002780	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													4	70					0	0	0.009096	0	0
PLCH2	9651	broad.mit.edu	37	1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:2411404G>A	ENST00000449969.1	+	3	583	c.422G>A	c.(421-423)cGc>cAc	p.R141H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R168H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R168H|PLCH2_ENST00000419816.2_Missense_Mutation_p.R168H|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	168	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687000													18	49					0	0	0.012319	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664115	22664115	+	RNA	SNP	A	A	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr22:22664115A>T	ENST00000426066.1	+	0	638					NR_027293.1																						TGTTTAATTCAGCCTTGGAAG	0.413000													4	80					0	0	0.010729	0	0
PDE6B	5158	broad.mit.edu	37	4	619541	619541	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:619541G>A	ENST00000255622.6	+	1	169	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PDE6B_ENST00000496514.1_Silent_p.P42P	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	42					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGTGCCCGCCGGACTGCGACA	0.642000													17	36					0	0	0.007413	0	0
HAUS5	23354	broad.mit.edu	37	19	36108982	36108982	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:36108982A>G	ENST00000203166.5	+	10	731	c.706A>G	c.(706-708)Aca>Gca	p.T236A	HAUS5_ENST00000379045.2_Missense_Mutation_p.T236A	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	236					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GACGCTGCTGACAAACCACCC	0.637000													44	142					0	0	0.007835	0	0
MAP7D2	256714	broad.mit.edu	37	X	20044027	20044027	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:20044027G>A	ENST00000379651.3	-	8	946	c.928C>T	c.(928-930)Cct>Tct	p.P310S	MAP7D2_ENST00000452324.3_Missense_Mutation_p.P258S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P351S|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P195S|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P265S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	310										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTAGGGAGGTTTCGTTGTC	0.488000													99	245					0	0	0.014410	0	0
DNAH5	1767	broad.mit.edu	37	5	13923478	13923478	+	Missense_Mutation	SNP	C	C	T	rs116128702	by1000genomes	TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:13923478C>T	ENST00000265104.4	-	4	453	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	117	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTTCCCTCGGTCACGAAC	0.448000									Kartagener syndrome				67	134					0	0	0.014410	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33657162	33657162	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:33657162C>A	ENST00000252015.2	-	3	440	c.351G>T	c.(349-351)agG>agT	p.R117S	TRPC4AP_ENST00000432634.2_Intron|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R117S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	117	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTAAGTTTCCTCTCTTCAG	0.333000													15	105					4.7546e-09	5.475e-09	0.004007	1	0
SPACA3	124912	broad.mit.edu	37	17	31323997	31323997	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:31323997C>A	ENST00000580599.1	+	4	682	c.273C>A	c.(271-273)aaC>aaA	p.N91K	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.N160K|SPACA3_ENST00000394638.1_Missense_Mutation_p.N57K			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	160					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ACGTCCCCAACGTGTGCCGGA	0.582000													32	40					1.414e-09	1.65329e-09	0.003755	1	0
TRAV8-2	28684	broad.mit.edu	37	14	22315244	22315244	+	RNA	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr14:22315244A>G	ENST00000390434.3	+	0	407																											CACCCCAACAAAGGACTCCAG	0.498000											OREG0022570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	77	145					0	0	0.014410	0	0
UNC13A	23025	broad.mit.edu	37	19	17778978	17778978	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:17778978C>A	ENST00000428389.2	-	7	679	c.680G>T	c.(679-681)cGc>cTc	p.R227L	UNC13A_ENST00000552293.1_Missense_Mutation_p.R139L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R139L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R139L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R139L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R139L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	139					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCCCAGTAGCGAGCCTCCTC	0.582000													12	30					5.50884e-06	6.0677e-06	0.013537	1	0
DMD	1756	broad.mit.edu	37	X	31747756	31747756	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:31747756G>A	ENST00000357033.4	-	52	7858	c.7652C>T	c.(7651-7653)aCg>aTg	p.T2551M	DMD_ENST00000541735.1_Missense_Mutation_p.T91M|DMD_ENST00000474231.1_Missense_Mutation_p.T91M|DMD_ENST00000343523.2_Missense_Mutation_p.T91M|DMD_ENST00000378707.3_Missense_Mutation_p.T91M|DMD_ENST00000359836.1_Missense_Mutation_p.T91M|DMD_ENST00000378677.2_Missense_Mutation_p.T2547M	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2551					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T2546M(2)|p.T91M(2)|p.T2547M(2)|p.T1210M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTCGATCCGTAATGATTGT	0.393000													69	157					0	0	0.014410	0	0
ZNF202	7753	broad.mit.edu	37	11	123601198	123601198	+	Silent	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:123601198C>A	ENST00000336139.4	-	3	761	c.399G>T	c.(397-399)cgG>cgT	p.R133R	ZNF202_ENST00000529691.1_Silent_p.R133R|ZNF202_ENST00000530393.1_Silent_p.R133R			O95125	ZN202_HUMAN	zinc finger protein 202	133					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCTCACCCACCGCCTTGGTC	0.582000													35	82					1.69901e-12	2.08266e-12	0.005524	1	0
OR4S1	256148	broad.mit.edu	37	11	48328354	48328354	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:48328354G>T	ENST00000319988.1	+	1	580	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTACATGGTAGGTCTCATCGT	0.453000													41	64					6.45866e-13	8.04685e-13	0.008740	1	0
CDC14A	8556	broad.mit.edu	37	1	100818540	100818540	+	Silent	SNP	G	G	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:100818540G>T	ENST00000370125.2	+	1	518	c.30G>T	c.(28-30)ggG>ggT	p.G10G	CDC14A_ENST00000361544.6_Silent_p.G10G|CDC14A_ENST00000336454.3_Silent_p.G10G|CDC14A_ENST00000544534.1_Silent_p.G10G|CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370124.3_Silent_p.G10G			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	10	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACTAATCGGGGCTTGTGAGT	0.627000													18	49					6.33239e-15	8.02102e-15	0.010504	1	0
FGF6	2251	broad.mit.edu	37	12	4553372	4553372	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:4553372C>T	ENST00000228837.2	-	2	420	c.377G>A	c.(376-378)gGc>gAc	p.G126D		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	126					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACTCACCACGCCTCGCTCCAC	0.542000													21	41					0	0	0.002780	0	0
RRM1	6240	broad.mit.edu	37	11	4159521	4159521	+	Missense_Mutation	SNP	G	G	A	rs112706528		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:4159521G>A	ENST00000300738.5	+	19	2491	c.2287G>A	c.(2287-2289)Gta>Ata	p.V763I	RRM1_ENST00000423050.2_Missense_Mutation_p.V666I|RRM1_ENST00000537197.1_Missense_Mutation_p.V425I|RRM1_ENST00000534285.1_Missense_Mutation_p.V541I	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	763					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAAGAAAAGGTATCAAAAGA	0.418000													17	55					0	0	0.006122	0	0
C7orf34	135927	broad.mit.edu	37	7	142637545	142637545	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:142637545G>A	ENST00000409607.3	+	2	356	c.315G>A	c.(313-315)acG>acA	p.T105T		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	80						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CGTCCAAGACGGCAGCTGTTC	0.532000													48	174					0	0	0.014410	0	0
ULBP1	80329	broad.mit.edu	37	6	150289853	150289853	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr6:150289853T>A	ENST00000229708.3	+	2	239	c.196T>A	c.(196-198)Tgt>Agt	p.C66S		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCACTATGACTGTGTTAACCA	0.453000													60	71					0	0	0.014410	0	0
PLEK	5341	broad.mit.edu	37	2	68620306	68620306	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:68620306A>G	ENST00000234313.7	+	7	954	c.775A>G	c.(775-777)Aaa>Gaa	p.K259E		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	259	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATAGAAGGAAAAACTGGAA	0.433000													51	127					0	0	0.014410	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													5	24					0	0	0.001984	0	0
VGLL3	389136	broad.mit.edu	37	3	87027678	87027678	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr3:87027678C>T	ENST00000398399.2	-	2	764	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.R134Q	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTCTTACCTCGCCATAGGGG	0.502000													34	97					0	0	0.003271	0	0
SOGA2	23255	broad.mit.edu	37	18	8821483	8821483	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:8821483G>A	ENST00000359865.3	+	14	3317	c.3175G>A	c.(3175-3177)Gga>Aga	p.G1059R	SOGA2_ENST00000517570.1_Missense_Mutation_p.G1018R|SOGA2_ENST00000518815.1_Missense_Mutation_p.G384R|SOGA2_ENST00000400050.3_Missense_Mutation_p.G1018R|SOGA2_ENST00000306329.11_Missense_Mutation_p.G1378R|SOGA2_ENST00000306285.7_Missense_Mutation_p.G384R	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	1369																	AAATCACAAAGGAAATCTTCA	0.299000													11	32					0	0	0.010729	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714318	43714318	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr15:43714318C>A	ENST00000263801.3	-	19	4072	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E1279*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1274					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATTGGCTCTTCAGTCTCCTGC	0.433000								Other conserved DNA damage response genes					28	56					1.88708e-17	2.43082e-17	0.008361	1	0
FAM120A	23196	broad.mit.edu	37	9	96326729	96326729	+	Silent	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:96326729C>T	ENST00000277165.6	+	18	3458	c.3264C>T	c.(3262-3264)tgC>tgT	p.C1088C	FAM120A_ENST00000340893.4_Silent_p.C1042C|FAM120A_ENST00000333936.5_Silent_p.C1116C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1088	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTAAAACGTGCAATACAAATC	0.502000													10	171					0	0	0.001855	0	0
SERPINB3	6317	broad.mit.edu	37	18	61326675	61326675	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:61326675G>A	ENST00000283752.5	-	4	452	c.309C>T	c.(307-309)atC>atT	p.I103I	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.I103I	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	103					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTTGTTGGCGATCTTCAGCT	0.398000													28	89					0	0	0.004656	0	0
ZNF362	149076	broad.mit.edu	37	1	33745746	33745746	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:33745746C>T	ENST00000539719.1	+	5	541	c.371C>T	c.(370-372)aCc>aTc	p.T124I	ZNF362_ENST00000373428.5_Missense_Mutation_p.T124I	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCACCCGGACCCCGTCTGTG	0.682000													12	58					0	0	0.013537	0	0
TMEM27	57393	broad.mit.edu	37	X	15682843	15682843	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:15682843G>C	ENST00000380342.3	-	1	311	c.56C>G	c.(55-57)cCa>cGa	p.P19R		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	19					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CTACATACCTGGTTGACAGAG	0.363000													33	63					0	0	0.004289	0	0
WDFY3	23001	broad.mit.edu	37	4	85612794	85612794	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:85612794T>A	ENST00000322366.6	-	59	9550	c.9143A>T	c.(9142-9144)gAg>gTg	p.E3048V	WDFY3_ENST00000295888.4_Missense_Mutation_p.E3065V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3065						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGTCTGACTCATAGGTTCC	0.438000													28	52					0	0	0.012213	0	0
GH2	2689	broad.mit.edu	37	17	61957625	61957625	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:61957625C>A	ENST00000456543.2	-	5	746	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	GH2_ENST00000423893.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGGAGTAGCACCTTCCACGAC	0.557000													12	25					1.08611e-07	1.21389e-07	0.010729	1	0
NOS1	4842	broad.mit.edu	37	12	117705872	117705872	+	Silent	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:117705872A>G	ENST00000317775.6	-	11	2602	c.1917T>C	c.(1915-1917)aaT>aaC	p.N639N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.N639N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	639					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAACCGCGATATTGATCTCCA	0.512000													29	62					0	0	0.010818	0	0
PSD3	23362	broad.mit.edu	37	8	18725328	18725328	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr8:18725328G>C	ENST00000440756.2	-	4	1592	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*	PSD3_ENST00000327040.8_Nonsense_Mutation_p.S497*|PSD3_ENST00000523619.1_Nonsense_Mutation_p.S432*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	497					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCTCCCCCTGATGTCCTCTC	0.488000													74	180					0	0	0.014410	0	0
MROH2B	133558	broad.mit.edu	37	5	41055887	41055887	+	Silent	SNP	T	T	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:41055887T>A	ENST00000399564.4	-	10	1440	c.990A>T	c.(988-990)cgA>cgT	p.R330R	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGATTCCCACTCGAATGGCTT	0.413000													40	88					0	0	0.011902	0	0
ZNF831	128611	broad.mit.edu	37	20	57829784	57829784	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:57829784G>A	ENST00000371030.2	+	5	5020	c.5020G>A	c.(5020-5022)Gtt>Att	p.V1674I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1674						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)					AGACCGATTAGTTATAGAAAT	0.443000													15	78					0	0	0.004007	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	60					0	0	0.000602	0	0
AADACL4	343066	broad.mit.edu	37	1	12711261	12711261	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:12711261G>A	ENST00000376221.1	+	2	288	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	96						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTTTGGGACGATACCCGTGA	0.517000													31	53					0	0	0.009535	0	0
LINC00922	283867	broad.mit.edu	37	16	65319330	65319330	+	RNA	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr16:65319330G>A	ENST00000569736.1	-	0	831				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1																						AATGCTTGGCGGTCTTGTGTG	0.517000													14	60					0	0	0.004990	0	0
FSTL5	56884	broad.mit.edu	37	4	162463805	162463805	+	Silent	SNP	T	T	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:162463805T>C	ENST00000306100.5	-	9	1492	c.1056A>G	c.(1054-1056)agA>agG	p.R352R	FSTL5_ENST00000536695.1_Silent_p.R351R|FSTL5_ENST00000427802.2_Silent_p.R351R|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.R351R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	352	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCCAGGCTCTCTAGCCTGAC	0.423000													33	78					0	0	0.005524	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	53					0	0	0.004672	0	0
OR8K1	390157	broad.mit.edu	37	11	56113589	56113589	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:56113589C>A	ENST00000279783.2	+	1	169	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGATTACAGACAACCCTGGGC	0.443000										HNSCC(65;0.19)			15	65					2.89027e-11	3.43219e-11	0.014323	1	0
KIAA0368	23392	broad.mit.edu	37	9	114246646	114246646	+	Silent	SNP	A	A	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:114246646A>C	ENST00000259335.4	-	2	266	c.267T>G	c.(265-267)ccT>ccG	p.P89P		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCTGTCCAAAGGAAGAGACG	0.697000													9	24					0	0	0.010729	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409664	69409664	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:69409664A>G	ENST00000303714.4	+	16	1547	c.1225A>G	c.(1225-1227)Aag>Gag	p.K409E		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	409					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAAGGTGCTAAGTTGGAAAA	0.433000									Familial Infantile Hemangioma				23	46					0	0	0.014323	0	0
TLN1	7094	broad.mit.edu	37	9	35714763	35714763	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:35714763G>C	ENST00000314888.9	-	22	3218	c.2865C>G	c.(2863-2865)agC>agG	p.S955R	TLN1_ENST00000540444.1_Missense_Mutation_p.S955R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	955					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTACCTTGCAGCTCTGCACCA	0.597000													11	184					0	0	0.010729	0	0
GABRG2	2566	broad.mit.edu	37	5	161580182	161580182	+	Silent	SNP	C	C	T			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:161580182C>T	ENST00000356592.3	+	10	1696	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGAAGAGTACGGCTATGAGT	0.488000													7	131					0	0	0.001984	0	0
NANOGP1	404635	broad.mit.edu	37	12	8048160	8048160	+	RNA	SNP	C	C	G			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:8048160C>G	ENST00000607111.1	+	0	88																				kidney(1)|lung(4)|prostate(1)	6						CCCACTACTGCAGAGAAGAGT	0.478000													33	89					0	0	0.003271	0	0
DAB1	1600	broad.mit.edu	37	1	57756661	57756661	+	Silent	SNP	G	G	A			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:57756661G>A	ENST00000371236.2	-	2	305	c.42C>T	c.(40-42)agC>agT	p.S14S	DAB1_ENST00000414851.2_Silent_p.S14S|DAB1_ENST00000420954.2_Silent_p.S14S|DAB1_ENST00000371234.4_Silent_p.S14S|DAB1_ENST00000371230.1_Silent_p.S14S|DAB1_ENST00000371231.1_Silent_p.S14S|DAB1_ENST00000439789.2_Silent_p.S14S|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	14					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTCTTGGCGCTGGTTTTCA	0.443000													27	64					0	0	0.006320	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431875	140431875	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:140431875delA	ENST00000306549.3	+	1	897	c.820delA	c.(820-822)aacfs	p.N274fs		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		274	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGCACCAACAAAGCGAT	0.512													14	47	---	---	---	---					
LOC101927905	101927905	broad.mit.edu	37	12	8388128	8388129	+	RNA	DEL	AG	AG	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:8388128_8388129delAG	ENST00000304751.9	+	0	118_119				FAM86FP_ENST00000427893.2_RNA																							GCGGGAGGAAAGGGGACCGTGT	0.629													8	30	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													7	310	---	---	---	---					
GDPD3	79153	broad.mit.edu	37	16	30119725	30119725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr16:30119725delG	ENST00000406256.3	-	8	1113	c.736delC	c.(736-738)ctgfs	p.L246fs	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	246	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AACTGGTTCAGGCAAGAGCAG	0.577													128	214	---	---	---	---					
