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
SLC6A4	6532	broad.mit.edu	37	17	28534827	28534827	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:28534827C>T	ENST00000401766.2	-	12	2085	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V525M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	525					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATTTCCTTCACGTCCCTGCAG	0.582000													3	16					0	0	0.115264	0	0
RPRD1B	58490	broad.mit.edu	37	20	36694642	36694642	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:36694642A>C	ENST00000373433.4	+	6	1217	c.815A>C	c.(814-816)aAg>aCg	p.K272T		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	272										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTCGGAGAAGGAGAAAAAA	0.488000													12	116					0	0	0.146539	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648196	62648196	+	Silent	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:62648196A>G	ENST00000337910.5	-	6	1567	c.1230T>C	c.(1228-1230)ccT>ccC	p.P410P	RHOBTB1_ENST00000357917.4_Silent_p.P410P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	410	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGGTCCGAAAAGGGCCTGGCT	0.537000													3	62					0	0	0.115264	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													3	125					0	0	0.115264	0	0
ITGA6	0	broad.mit.edu	37	2	173366539	173366539	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:173366539G>A	ENST00000375221.2	+	26	3474	c.3271G>A	c.(3271-3273)Gcc>Acc	p.A1091T	ITGA6_ENST00000264107.7_Missense_Mutation_p.A1052T|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.A933T|ITGA6_ENST00000343713.4_Missense_Mutation_p.A1047T|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000409080.1_Intron			P23229	ITA6_HUMAN	integrin, alpha 6	1091					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCATTATGATGCCACATATCA	0.363000													28	59					0	0	0.163468	0	0
IFNB1	3456	broad.mit.edu	37	9	21077516	21077516	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:21077516T>C	ENST00000380232.2	-	1	427	c.353A>G	c.(352-354)cAt>cGt	p.H118R		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	118					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TGTCTTCAGATGGTTTATCTG	0.413000													6	241					0	0	0.029380	0	0
ZRSR2	8233	broad.mit.edu	37	X	15827371	15827371	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:15827371A>G	ENST00000307771.7	+	7	511	c.487A>G	c.(487-489)Aga>Gga	p.R163G		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	163					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CGTGGATTTCAGAGTAATGGA	0.398000			"""F, S, Mis"""		"""MDS, CLL"""								3	105					0	0	0.150653	0	0
IGHV3-20	0	broad.mit.edu	37	14	106667852	106667852	+	RNA	SNP	C	C	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:106667852C>A	ENST00000390606.2	-	0	141																											CACACCTCCCCCAGACTCCAC	0.562000													7	80					0.000157383	0.00016281	0.038147	1	0
CNTFR	1271	broad.mit.edu	37	9	34556300	34556300	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:34556300T>C	ENST00000378980.3	-	7	1014	c.721A>G	c.(721-723)Aag>Gag	p.K241E	CNTFR_ENST00000351266.4_Missense_Mutation_p.K241E	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	241	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGAAAGAACTTGAGAGGAAAA	0.607000													9	21					0	0	0.047766	0	0
BSG	682	broad.mit.edu	37	19	578038	578038	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:578038G>A	ENST00000333511.3	+	2	402	c.332G>A	c.(331-333)aGc>aAc	p.S111N	BSG_ENST00000545507.2_Intron|BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	111					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGGGCCAGCAACGACCCG	0.682000													12	8					0	0	0.093190	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115527	220115527	+	Silent	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:220115527A>G	ENST00000392088.2	-	4	1404	c.849T>C	c.(847-849)ccT>ccC	p.P283P	TUBA4A_ENST00000498660.1_5'UTR|TUBA4A_ENST00000248437.4_Silent_p.P298P	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	298					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGTTGGCAGGCTCAAAGC	0.577000													3	82					0	0	0.150653	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	59					0	0	0.014758	0	0
POM121L9P	0	broad.mit.edu	37	22	24659593	24659593	+	RNA	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr22:24659593C>T	ENST00000414583.2	+	0	3118					NR_003714.1																						TCACTGACATCGAAGGCTGCC	0.632000													3	15					0	0	0.038147	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101585438	101585438	+	Silent	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:101585438C>T	ENST00000310954.6	-	9	1810	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	508	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408000													33	31					0	0	0.064281	0	0
IL23R	149233	broad.mit.edu	37	1	67672664	67672664	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:67672664T>C	ENST00000347310.5	+	6	895	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	C1orf141_ENST00000371007.2_Intron|IL23R_ENST00000371002.1_Missense_Mutation_p.W242R	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	242	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CATAATTTATTGGGATAGTCA	0.353000													10	40					0	0	0.058154	0	0
NOTCH3	4854	broad.mit.edu	37	19	15276774	15276774	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:15276774G>C	ENST00000263388.2	-	30	5566	c.5491C>G	c.(5491-5493)Ctt>Gtt	p.L1831V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1831					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTGCCCCAAGCTGAGCCCCC	0.612000													4	32					0	0	0.014758	0	0
SLC16A12	387700	broad.mit.edu	37	10	91192821	91192821	+	Nonstop_Mutation	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:91192821T>C	ENST00000341233.4	-	8	1851	c.1461A>G	c.(1459-1461)tgA>tgG	p.*487W	SLC16A12_ENST00000371790.4_Nonstop_Mutation_p.*517W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGGCCTTTGGTCATGTGAGGC	0.478000													22	50					0	0	0.062417	0	0
XYLT1	64131	broad.mit.edu	37	16	17228396	17228396	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr16:17228396G>A	ENST00000261381.6	-	9	2045	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	654					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGGCAAAGGAGTGGTACAA	0.627000													20	53					0	0	0.049695	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								39	50					0	0	0.080422	0	0
DQX1	165545	broad.mit.edu	37	2	74747092	74747092	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:74747092G>A	ENST00000404568.3	-	9	1784	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	DQX1_ENST00000393951.2_Missense_Mutation_p.T522M	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	522						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTCACCATCCGTGTGTTCCAG	0.512000													10	111					0	0	0.080935	0	0
TSC22D4	81628	broad.mit.edu	37	7	100064708	100064708	+	Silent	SNP	C	C	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr7:100064708C>A	ENST00000300181.2	-	5	1816	c.1062G>T	c.(1060-1062)cgG>cgT	p.R354R	TSC22D4_ENST00000393991.1_Silent_p.R115R|TSC22D4_ENST00000496728.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCAGCGTTCCGCTCCGCCA	0.697000													10	25					7.48243e-07	8.01689e-07	0.058154	1	0
HMCN1	83872	broad.mit.edu	37	1	186105940	186105940	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:186105940C>T	ENST00000271588.4	+	87	13682	c.13453C>T	c.(13453-13455)Cgg>Tgg	p.R4485W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATGACCGGGTTAACGT	0.428000													11	47					0	0	0.069234	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			23	6					0	0	0.069288	0	0
FLT4	2324	broad.mit.edu	37	5	180046671	180046671	+	Silent	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:180046671G>A	ENST00000261937.6	-	18	2719	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	FLT4_ENST00000393347.3_Silent_p.L881L|FLT4_ENST00000502649.1_Silent_p.L881L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	881	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACACCTTTCAGCATTTTCACG	0.657000													3	83					0	0	0.150653	0	0
FAM86C1	55199	broad.mit.edu	37	11	71507232	71507232	+	Missense_Mutation	SNP	C	C	G	rs113587125	by1000genomes	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:71507232C>G	ENST00000528685.1	+	3	329	c.329C>G	c.(328-330)cCg>cGg	p.P110R	FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000346333.6_Intron			Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	0										lung(1)	1						CACGCCCACCCGGGCCTGCAT	0.612000													4	139					0	0	0.029380	0	0
PIWIL2	55124	broad.mit.edu	37	8	22173813	22173813	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:22173813G>A	ENST00000356766.6	+	19	2412	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R755H|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R755H	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	755	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGAGGCATGCGCTCCGTGGTT	0.413000													18	21					0	0	0.055883	0	0
GIPC3	126326	broad.mit.edu	37	19	3589856	3589856	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:3589856C>T	ENST00000322315.5	+	5	778	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	245										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCATCTCGGAAGGTTGA	0.657000													15	86					0	0	0.043863	0	0
SNX15	29907	broad.mit.edu	37	11	64803113	64803113	+	Silent	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:64803113C>T	ENST00000377244.3	+	6	772	c.642C>T	c.(640-642)ctC>ctT	p.L214L	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	214					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTTGCCCTCTTCGACCCCT	0.647000													4	120					0	0	0.014758	0	0
TPTE2	93492	broad.mit.edu	37	13	20039401	20039401	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr13:20039401C>T	ENST00000400230.2	-	9	714	c.670G>A	c.(670-672)Gtt>Att	p.V224I	TPTE2_ENST00000255310.6_Missense_Mutation_p.V147I|TPTE2_ENST00000457266.2_Missense_Mutation_p.V113I|TPTE2_ENST00000382978.1_Missense_Mutation_p.V184I|TPTE2_ENST00000390680.2_Missense_Mutation_p.V147I|TPTE2_ENST00000400103.2_Missense_Mutation_p.V113I|TPTE2_ENST00000382975.4_Missense_Mutation_p.V184I|TPTE2_ENST00000382977.4_Missense_Mutation_p.V224I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	224	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCTGTAACGTAAGTGAGG	0.323000													7	192					0	0	0.038147	0	0
LILRB4	0	broad.mit.edu	37	19	55178179	55178179	+	Silent	SNP	C	C	T	rs149652762	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:55178179C>T	ENST00000391736.1	+	12	1335	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	LILRB4_ENST00000430952.2_Silent_p.D340D|LILRB4_ENST00000391733.3_Silent_p.D341D|LILRB4_ENST00000391734.3_Silent_p.D340D|LILRB4_ENST00000270452.2_Silent_p.D340D	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	340						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCCTGAGGACGGGGTGGAAA	0.607000													48	51					0	0	0.139131	0	0
SLFN11	91607	broad.mit.edu	37	17	33689983	33689983	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:33689983G>T	ENST00000394566.1	-	4	1116	c.844C>A	c.(844-846)Cct>Act	p.P282T	SLFN11_ENST00000308377.4_Missense_Mutation_p.P282T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	282						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAACACAAGGTAGTTTGTAT	0.418000													4	182					0.00909568	0.00924984	0.150653	1	0
GPRIN3	285513	broad.mit.edu	37	4	90169964	90169964	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:90169964G>A	ENST00000333209.3	-	2	1816	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	433										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTTTACACGTATGCTGGGC	0.468000													17	100					0	0	0.175082	0	0
CBR3	874	broad.mit.edu	37	21	37518618	37518618	+	Silent	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr21:37518618G>A	ENST00000290354.5	+	3	923	c.642G>A	c.(640-642)gaG>gaA	p.E214E	CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	214						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						GTCTGGATGAGAAGAGGAAAG	0.567000													5	18					0	0	0.014758	0	0
GANAB	23193	broad.mit.edu	37	11	62396710	62396710	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:62396710G>C	ENST00000346178.4	-	17	1973	c.1958C>G	c.(1957-1959)cCt>cGt	p.P653R	GANAB_ENST00000356638.3_Missense_Mutation_p.P631R|GANAB_ENST00000534779.1_Missense_Mutation_p.P539R|GANAB_ENST00000540933.1_Missense_Mutation_p.P534R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	631					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAGACACATAGGAATAGAGAT	0.537000													3	69					0	0	0.115264	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803493	142803493	+	RNA	SNP	T	T	C	rs80149641	by1000genomes	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:142803493T>C	ENST00000423385.1	-	0	1472																											TGTACATTTATTATTGATTTA	0.323000													3	97					0	0	0.115264	0	0
ESYT3	83850	broad.mit.edu	37	3	138187557	138187557	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr3:138187557C>T	ENST00000389567.4	+	13	1555	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	457	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGCAACTTGCCGGTGAGTGG	0.527000													4	173					0	0	0.150653	0	0
LAMA5	3911	broad.mit.edu	37	20	60897105	60897105	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:60897105C>T	ENST00000252999.3	-	48	6532	c.6466G>A	c.(6466-6468)Ggg>Agg	p.G2156R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2156	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCACAGGCCCGCCTGGAACA	0.657000													9	31					0	0	0.069234	0	0
FAM58A	92002	broad.mit.edu	37	X	152853848	152853848	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:152853848T>A	ENST00000406277.2	-	7	818	c.716A>T	c.(715-717)tAt>tTt	p.Y239F	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	241					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATGGTATAAATCTGAAT	0.483000													28	125					0	0	0.163468	0	0
EPG5	57724	broad.mit.edu	37	18	43447537	43447537	+	Silent	SNP	T	T	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr18:43447537T>C	ENST00000282041.5	-	37	6436	c.6402A>G	c.(6400-6402)gtA>gtG	p.V2134V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2134					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTGTTTGGTCTACCAGTTGAA	0.428000													8	152					0	0	0.058154	0	0
NRXN3	9369	broad.mit.edu	37	14	79933737	79933737	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:79933737C>G	ENST00000281127.7	+	2	1300	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	NRXN3_ENST00000335750.5_Missense_Mutation_p.L773V|NRXN3_ENST00000428277.2_Missense_Mutation_p.L141V|NRXN3_ENST00000554719.1_Missense_Mutation_p.L773V|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000557594.1_Missense_Mutation_p.L141V	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	141	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCCTCCAGCTTCACATAGT	0.522000													5	36					0	0	0.014758	0	0
EPHX4	253152	broad.mit.edu	37	1	92495797	92495797	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:92495797C>T	ENST00000370383.4	+	1	259	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	54						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTCCGGCGGCCCGCCCGGGAG	0.706000													3	3					0	0	0.150653	0	0
RXFP1	59350	broad.mit.edu	37	4	159533494	159533494	+	Silent	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:159533494A>C	ENST00000307765.5	+	8	911	c.660A>C	c.(658-660)ggA>ggC	p.G220G	RXFP1_ENST00000470033.1_Silent_p.G187G|RXFP1_ENST00000448688.2_Silent_p.G139G|RXFP1_ENST00000460056.2_Silent_p.G139G|RXFP1_ENST00000343542.5_Silent_p.G220G	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	220						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTTTATGGACTAAATTCTC	0.274000													8	17					0	0	0.047766	0	0
OR5M10	390167	broad.mit.edu	37	11	56345128	56345128	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:56345128C>G	ENST00000526812.2	-	1	135	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGGATCTTCTCTAGCACTGGG	0.463000													16	105					0	0	0.160694	0	0
NUTM2F	54754	broad.mit.edu	37	9	97082584	97082584	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:97082584A>C	ENST00000335456.7	-	6	1249	c.1229T>G	c.(1228-1230)gTg>gGg	p.V410G	NUTM2F_ENST00000341207.4_Missense_Mutation_p.V410G|NUTM2F_ENST00000253262.4_Missense_Mutation_p.V425G					NUT family member 2F																		CGGCTGCTCCACTTTGCCCTT	0.592000													8	64					0	0	0.093190	0	0
ATP11C	286410	broad.mit.edu	37	X	138850563	138850563	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:138850563T>A	ENST00000370557.1	-	20	3274	c.2247A>T	c.(2245-2247)ttA>ttT	p.L749F	ATP11C_ENST00000370543.1_Missense_Mutation_p.L752F|ATP11C_ENST00000359686.2_Missense_Mutation_p.L752F|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Missense_Mutation_p.L752F|ATP11C_ENST00000327569.3_Missense_Mutation_p.L752F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	752					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATCTATGATTAATCCATATT	0.313000													19	52					0	0	0.055883	0	0
LRRN4	164312	broad.mit.edu	37	20	6033166	6033166	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:6033166C>T	ENST00000378858.4	-	2	504	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	94						integral to membrane		p.E94K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCCGAGCTCGGAAGTGCTC	0.741000													3	9					0	0	0.115264	0	0
PCM1	5108	broad.mit.edu	37	8	17796415	17796415	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:17796415A>G	ENST00000325083.8	+	5	948	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	PCM1_ENST00000519253.1_Missense_Mutation_p.Q170R|PCM1_ENST00000518537.1_Missense_Mutation_p.Q170R|PCM1_ENST00000524226.1_Missense_Mutation_p.Q170R	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	170					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GGATCAGCACAGTGTAAAGAG	0.438000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								5	45					0	0	0.021553	0	0
RIN3	79890	broad.mit.edu	37	14	93118181	93118181	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:93118181C>T	ENST00000216487.7	+	6	946	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACGCCCTTTGCCGCCCACCTC	0.667000													3	51					0	0	0.115264	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1																						CTGGGATGTACGTCTGCGTTG	0.488000													5	65					0	0	0.014758	0	0
ADRB2	154	broad.mit.edu	37	5	148207421	148207421	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:148207421C>T	ENST00000305988.4	+	1	1266	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	343					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TCTGTGCCTGCGCAGGTCTTC	0.493000													6	37					0	0	0.021553	0	0
AMER1	139285	broad.mit.edu	37	X	63411822	63411822	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:63411822C>T	ENST00000330258.3	-	2	1617	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	AMER1_ENST00000403336.1_Missense_Mutation_p.A449T|AMER1_ENST00000374869.3_Missense_Mutation_p.A449T	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TCCCCAGGGGCTAGGCCAGGA	0.537000													25	37					0	0	0.083992	0	0
ZNF77	58492	broad.mit.edu	37	19	2933527	2933527	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:2933527G>A	ENST00000314531.4	-	4	1690	c.1598C>T	c.(1597-1599)gCa>gTa	p.A533V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGCGATGCGAGATACCT	0.493000													18	77					0	0	0.175082	0	0
RP11-608O21.1	0	broad.mit.edu	37	4	19815894	19815895	+	RNA	INS	-	-	A	rs145239076		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:19815894_19815895insA	ENST00000511431.1	+	0	288																											CTCTGGGCTGTaaaaaaaaaaa	0.416													4	5	---	---	---	---					
HLA-F	3134	broad.mit.edu	37	6	29694802	29694803	+	Frame_Shift_Ins	INS	-	-	T	rs17875385		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr6:29694802_29694803insT	ENST00000259951.7	+	7	1235_1236	c.1179_1180insT	c.(1177-1182)ttttttfs	p.FF393fs	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000440587.2_Intron	NM_001098479.1	NP_001091949.1	P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTGGATCTTGTTTTTTTTGTG	0.535													7	298	---	---	---	---					
AC073343.1	0	broad.mit.edu	37	7	6715701	6715701	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr7:6715701delG	ENST00000544825.1	+	10	883	c.883delG	c.(883-885)ggfs	p.295fs	AC073343.13_ENST00000366167.2_RNA|AC073343.1_ENST00000399484.3_Frame_Shift_Del_p.284fs|AC073343.1_ENST00000401847.1_Frame_Shift_Del_p.294fs|AC073343.1_ENST00000542006.1_Frame_Shift_Del_p.135fs|AC073343.1_ENST00000328239.7_Frame_Shift_Del_p.108fs																breast(1)	1						GACACACCCAGGGGAGATACC	0.418													2	4	---	---	---	---					
MSI1	4440	broad.mit.edu	37	12	120784021	120784021	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr12:120784021delC	ENST00000257552.2	-	13	1052	c.964delG	c.(964-966)cgfs	p.A323fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	323					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTGGCCGCCCCGTAGAGC	0.706													2	4	---	---	---	---					
FASN	2194	broad.mit.edu	37	17	80043423	80043423	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:80043423delG	ENST00000306749.2	-	23	4275	c.4057delC	c.(4057-4059)tcfs	p.L1353fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1353				LGDI -> SGH (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATGTCCCCGAGGGGGTGCCCC	0.706													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76940443	76940447	+	Frame_Shift_Del	DEL	TCCAT	TCCAT	-	rs45572441		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:76940443_76940447delTCCAT	ENST00000373344.5	-	8	860_864	c.646_650delATGGA	c.(646-651)tfs	p.MD216fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.MD178fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	216	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACATTGTTCATCCATTCCATCTGAG	0.317			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						36	74	---	---	---	---					
