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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RERE	473	broad.mit.edu	37	1	8421423	8421423	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:8421423A>G	uc001ape.2	-	19	2954	c.2144T>C	c.(2143-2145)ATC>ACC	p.I715T	RERE_uc001apf.2_Missense_Mutation_p.I715T|RERE_uc010nzx.1_Missense_Mutation_p.I447T|RERE_uc001apd.2_Missense_Mutation_p.I161T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	715					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGGCTGGGGATGCTCGGGGA	0.627000													22	29					0	0	0.083992	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166820	19166820	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:19166820G>T	uc001bba.1	-	6	1794	c.1793C>A	c.(1792-1794)TCG>TAG	p.S598*		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2 precursor	598	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCCCCCAGCCGAGCGAACTAT	0.647000													26	42					5.61819e-17	6.46092e-17	0.108266	1	0
COL11A1	1301	broad.mit.edu	37	1	103380351	103380351	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:103380351C>T	uc001dul.2	-	51	4151	c.3833G>A	c.(3832-3834)AGA>AAA	p.R1278K	COL11A1_uc001duk.2_Missense_Mutation_p.R474K|COL11A1_uc001dum.2_Missense_Mutation_p.R1290K|COL11A1_uc001dun.2_Missense_Mutation_p.R1239K|COL11A1_uc009weh.2_Missense_Mutation_p.R1162K	NM_001854	NP_001845	P12107	COBA1_HUMAN	alpha 1 type XI collagen isoform A	1278	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTCTCCTCTTTCTCCTTT	0.428000													12	20					0	0	0.080935	0	0
PIAS3	10401	broad.mit.edu	37	1	145585437	145585437	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:145585437C>G	uc001eoc.1	+	14	1793	c.1702C>G	c.(1702-1704)CAC>GAC	p.H568D	NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.H237D	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	568					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCCCTTCTCACTTTCTGGG	0.637000													49	52					0	0	0.048971	0	0
SPRYD5	84767	broad.mit.edu	37	11	55655604	55655604	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr11:55655604C>T	uc010rip.1	+	4	696	c.604C>T	c.(604-606)CGA>TGA	p.R202*	SPRYD5_uc010riq.1_Nonsense_Mutation_p.R59*	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	202						intracellular	zinc ion binding				0		all_epithelial(135;0.226)				GGAAAGGCTGCGAAAGGAGGG	0.433000													19	40					0	0	0.083992	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858963	42858963	+	Silent	SNP	A	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr12:42858963A>G	uc010skv.1	-	7	1160	c.873T>C	c.(871-873)TGT>TGC	p.C291C	PRICKLE1_uc001rnl.2_Silent_p.C291C|PRICKLE1_uc010skw.1_Silent_p.C291C|PRICKLE1_uc001rnm.2_Silent_p.C291C	NM_001144881	NP_001138353	Q96MT3	PRIC1_HUMAN	prickle homolog 1	291	LIM zinc-binding 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			ovary(3)|skin(1)	4	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAGGAAGGGACATCCCAACA	0.522000													19	26					0	0	0.038395	0	0
Unknown	0	broad.mit.edu	37	13	24515577	24515577	+	RNA	SNP	C	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr13:24515577C>A	uc001upb.1	-	3		c.3713G>T								Homo sapiens cDNA FLJ45359 fis, clone BRHIP3013588.																		AATAATGGCACAAGCCTCTTC	0.433000													8	49					5.03518e-11	5.64923e-11	0.043863	1	0
Unknown	0	broad.mit.edu	37	15	102294689	102294689	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr15:102294689G>A	uc010usj.1	+	5	576	c.517G>A	c.(517-519)GTG>ATG	p.V173M	uc002bxo.2_5'Flank|uc002bxq.2_5'Flank|uc002bxr.2_5'Flank|uc010usk.1_5'Flank|uc002bxs.2_5'Flank|uc002bxu.1_5'Flank|uc002bxv.1_5'Flank|uc002bxw.1_5'Flank|uc002bxy.1_5'Flank|uc002byb.1_5'Flank|uc002byd.2_5'Flank|uc002bye.2_5'Flank|uc002byf.1_5'Flank|uc002byg.2_5'Flank|uc002byi.2_5'Flank|uc002byk.2_5'Flank|uc002bym.2_5'Flank|uc002byn.2_5'Flank|uc010usm.1_5'Flank|uc002byr.2_5'Flank|uc002bys.2_5'Flank|uc002byv.2_5'Flank|uc002byx.3_5'Flank|uc002bza.2_5'Flank|uc002bzb.2_5'Flank|uc002bzc.1_5'Flank|uc002bzd.2_5'Flank|uc002bze.2_5'Flank|uc002bzg.2_5'Flank|uc002bzi.1_5'Flank|uc002bzj.2_5'Flank|uc002bzl.2_5'Flank|uc002bzm.2_5'Flank|uc002bzo.2_5'Flank|uc002bzp.2_5'Flank|uc002bzq.2_5'Flank|uc002bzr.2_5'Flank					RecName: Full=Uncharacterized protein C15orf51.; Flags: Fragment;																		GAAGACACTCGTGGAGGCGTC	0.592000													3	11					0	0	0.004672	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:7578394T>C	uc002gim.2	-	5	730	c.536A>G	c.(535-537)CAT>CGT	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.2_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.1_Missense_Mutation_p.H140R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	179	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			40	10					0	0	0.045515	0	0
MYH1	4619	broad.mit.edu	37	17	10419569	10419569	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:10419569C>T	uc002gmo.2	-	4	389	c.295G>A	c.(295-297)GAG>AAG	p.E99K	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	99	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						ACAGCAGGCTCGTGTAGATGA	0.473000													6	136					0	0	0.029380	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961614	26961614	+	Silent	SNP	G	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:26961614G>A	uc002hbu.2	-	16	3090	c.2991C>T	c.(2989-2991)GGC>GGT	p.G997G		NM_014680	NP_055495	Q14667	K0100_HUMAN	hypothetical protein LOC9703 precursor	997						extracellular region				ovary(2)|breast(1)|skin(1)	4	Lung NSC(42;0.00431)					GAAAAGGGCTGCCTGGATCAA	0.483000													49	77					0	0	0.048971	0	0
PSMD12	5718	broad.mit.edu	37	17	65341917	65341917	+	Silent	SNP	T	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:65341917T>A	uc002jfy.2	-	8	938	c.852A>T	c.(850-852)TCA>TCT	p.S284S	PSMD12_uc002jga.2_Silent_p.S264S|PSMD12_uc002jfz.2_Silent_p.S225S|PSMD12_uc010det.1_Silent_p.S284S	NM_002816	NP_002807	O00232	PSD12_HUMAN	proteasome 26S non-ATPase subunit 12 isoform 1	284	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding				0	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAACCAAATCTGACTGTTCAT	0.358000													21	30					0	0	0.091800	0	0
LAMA3	3909	broad.mit.edu	37	18	21425086	21425086	+	Silent	SNP	T	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr18:21425086T>G	uc002kuq.2	+	30	3803	c.3717T>G	c.(3715-3717)CTT>CTG	p.L1239L	LAMA3_uc002kur.2_Silent_p.L1239L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	1239	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTTTACCTTGAGTGAGTAT	0.493000													16	17					0	0	0.024245	0	0
FAM161A	84140	broad.mit.edu	37	2	62067511	62067511	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:62067511C>A	uc010ypo.1	-	3	730	c.628G>T	c.(628-630)GAT>TAT	p.D210Y	FAM161A_uc002sbm.3_Missense_Mutation_p.D210Y|FAM161A_uc002sbn.3_Missense_Mutation_p.D20Y|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Missense_Mutation_p.D101Y	NM_032180	NP_115556	Q3B820	F161A_HUMAN	hypothetical protein LOC84140	210					response to stimulus|visual perception	centrosome				large_intestine(2)|ovary(1)	3						CGAATATAATCCTCAACACAA	0.408000													67	108					4.67498e-28	5.51408e-28	0.048971	1	0
BUB1	699	broad.mit.edu	37	2	111423902	111423902	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:111423902T>C	uc002tgc.2	-	9	1007	c.895A>G	c.(895-897)AAG>GAG	p.K299E	BUB1_uc010yxh.1_Missense_Mutation_p.K279E|BUB1_uc010fkb.2_Missense_Mutation_p.K299E|BUB1_uc002tgd.2_Missense_Mutation_p.K299E	NM_004336	NP_004327	O43683	BUB1_HUMAN	budding uninhibited by benzimidazoles 1	299					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGATGCAACTTCTTATGAAGT	0.428000													12	24					0	0	0.080935	0	0
WDR33	55339	broad.mit.edu	37	2	128522748	128522748	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:128522748C>G	uc002tpg.1	-	5	657	c.474G>C	c.(472-474)CAG>CAC	p.Q158H	WDR33_uc002tph.1_Missense_Mutation_p.Q158H|WDR33_uc002tpi.1_Missense_Mutation_p.Q158H	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	158					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTATCATTACCTGTAATATTG	0.398000													13	13					0	0	0.093190	0	0
CPO	130749	broad.mit.edu	37	2	207814342	207814342	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:207814342T>C	uc002vby.2	+	2	116	c.70T>C	c.(70-72)TCC>CCC	p.S24P		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	carboxypeptidase O precursor	24					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCTTTGCAGATCCTTAGCCCA	0.418000													25	39					0	0	0.083992	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								29	42					0	0	0.037714	0	0
SPP2	6694	broad.mit.edu	37	2	234969077	234969077	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:234969077G>A	uc002vvk.1	+	4	483	c.398G>A	c.(397-399)CGC>CAC	p.R133H	SPP2_uc010fyl.1_Missense_Mutation_p.R53H	NM_006944	NP_008875	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa precursor	133					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity				0		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTGCATGCTCGCTGCAGCTGG	0.577000													19	34					0	0	0.062417	0	0
HDAC4	9759	broad.mit.edu	37	2	239976491	239976491	+	Silent	SNP	G	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:239976491G>A	uc002vyk.3	-	25	3819	c.3027C>T	c.(3025-3027)CCC>CCT	p.P1009P	HDAC4_uc010fyy.2_Silent_p.P966P	NM_006037	NP_006028	P56524	HDAC4_HUMAN	histone deacetylase 4	1009	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			breast(3)|skin(2)|ovary(1)	6		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTTTGCATTGGGTCTTTGCT	0.507000													34	58					0	0	0.064281	0	0
Unknown	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr22:18844888A>G	uc002zoe.2	+	4		c.2142A>G			uc002zof.2_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000													3	13					0	0	0.004672	0	0
PROS1	5627	broad.mit.edu	37	3	93624931	93624931	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:93624931T>C	uc003drb.3	-	5	744	c.403A>G	c.(403-405)AAA>GAA	p.K135E	PROS1_uc010hoo.2_Missense_Mutation_p.K4E|PROS1_uc003dqz.3_Missense_Mutation_p.K4E	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	135	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCCATCTTTGCAGCTCATA	0.408000													69	95					0	0	0.048971	0	0
PLCH1	23007	broad.mit.edu	37	3	155200741	155200741	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:155200741A>G	uc011bok.1	-	23	3375	c.3098T>C	c.(3097-3099)CTC>CCC	p.L1033P	PLCH1_uc011boj.1_3'UTR|PLCH1_uc011bol.1_Missense_Mutation_p.L995P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	1033					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCTTTGTGGAGCAGAGCACT	0.453000													28	53					0	0	0.099896	0	0
SPATA16	83893	broad.mit.edu	37	3	172631478	172631478	+	Silent	SNP	A	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:172631478A>G	uc003fin.3	-	10	1718	c.1560T>C	c.(1558-1560)AAT>AAC	p.N520N		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	520					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACACACGTTCATTATTGTTTC	0.373000													21	36					0	0	0.083992	0	0
SLC12A7	10723	broad.mit.edu	37	5	1088447	1088447	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr5:1088447G>A	uc003jbu.2	-	5	584	c.518C>T	c.(517-519)GCG>GTG	p.A173V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	173	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTAGCGATCGCACTCATGGA	0.592000													3	3					0	0	0.009096	0	0
ZNF451	26036	broad.mit.edu	37	6	57012701	57012701	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr6:57012701G>A	uc003pdm.1	+	10	2042	c.1818G>A	c.(1816-1818)TGG>TGA	p.W606*	ZNF451_uc003pdl.2_Nonsense_Mutation_p.W606*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.W606*|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.W606*	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451 isoform 1	606	C2H2-type 7; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)|pancreas(1)	2	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGTAAATGGCAATGCCGGA	0.418000													40	59					0	0	0.092188	0	0
COL1A2	1278	broad.mit.edu	37	7	94057712	94057712	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:94057712C>T	uc003ung.1	+	50	4105	c.3634C>T	c.(3634-3636)CCA>TCA	p.P1212S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	alpha 2 type I collagen precursor	1212	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGAAAACATCCCAGCCAAGAA	0.488000										HNSCC(75;0.22)			34	98					0	0	0.054565	0	0
TRRAP	8295	broad.mit.edu	37	7	98545941	98545941	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:98545941C>T	uc003upp.2	+	33	4834	c.4625C>T	c.(4624-4626)ACG>ATG	p.T1542M	TRRAP_uc011kis.1_Missense_Mutation_p.T1524M|TRRAP_uc003upr.2_Missense_Mutation_p.T1241M	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1542					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCATGAAAACGGAGCGGGCG	0.498000													32	77					0	0	0.045705	0	0
CRYGN	155051	broad.mit.edu	37	7	151135095	151135095	+	Missense_Mutation	SNP	C	T	T	rs148445096		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:151135095C>T	uc003wke.2	-	2	353	c.257G>A	c.(256-258)CGG>CAG	p.R86Q	CRYGN_uc003wkf.2_Missense_Mutation_p.R86Q|CRYGN_uc003wkg.2_RNA|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	gammaN-crystallin	86	Beta/gamma crystallin 'Greek key' 2.										0			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTACAGGCCGACAGGAGCC	0.627000													25	28					0	0	0.099896	0	0
RORB	6096	broad.mit.edu	37	9	77257427	77257427	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:77257427G>C	uc004aji.2	+	4	415	c.366G>C	c.(364-366)CAG>CAC	p.Q122H	RORB_uc004ajh.2_Missense_Mutation_p.Q111H	NM_006914	NP_008845	Q92753	RORB_HUMAN	RAR-related orphan receptor B	122	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(2)|lung(1)|skin(1)	4						ggcagcagcagAGTGGGGAGG	0.448000													11	36					0	0	0.093190	0	0
SETX	23064	broad.mit.edu	37	9	135205145	135205145	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:135205145T>C	uc004cbk.2	-	10	2023	c.1840A>G	c.(1840-1842)ATC>GTC	p.I614V	SETX_uc004cbj.2_Missense_Mutation_p.I233V|SETX_uc010mzt.2_Missense_Mutation_p.I233V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	614					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGGAGAGATTTTACATGCA	0.353000													28	34					0	0	0.034045	0	0
AKAP4	8852	broad.mit.edu	37	X	49957597	49957597	+	Silent	SNP	A	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:49957597A>G	uc004dow.1	-	5	1891	c.1767T>C	c.(1765-1767)GGT>GGC	p.G589G	AKAP4_uc004dov.1_Silent_p.G206G|AKAP4_uc010njp.1_Silent_p.G411G|AKAP4_uc004dou.1_Silent_p.G580G	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	589					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)					CACTTTGGCCACCTCCACACT	0.488000													28	64					0	0	0.054565	0	0
ATRX	546	broad.mit.edu	37	X	76813106	76813106	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:76813106T>G	uc004ecp.3	-	30	6747	c.6515A>C	c.(6514-6516)GAA>GCA	p.E2172A	ATRX_uc004ecq.3_Missense_Mutation_p.E2134A|ATRX_uc004eco.3_Missense_Mutation_p.E1957A	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2172	Helicase C-terminal.				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			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AATCTTATCTTCCATGGTTCC	0.338000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						34	64					0	0	0.054565	0	0
CCDC160	347475	broad.mit.edu	37	X	133379653	133379653	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:133379653C>T	uc011mvj.1	+	2	1144	c.823C>T	c.(823-825)CGC>TGC	p.R275C		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	275	Potential.									skin(1)	1						GGCAAAGATCCGCGGAGAGCT	0.383000													9	12					0	0	0.047766	0	0
PLXNA3	55558	broad.mit.edu	37	X	153688767	153688767	+	Missense_Mutation	SNP	A	G	G	rs142949704		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:153688767A>G	uc004flm.2	+	2	417	c.244A>G	c.(244-246)AGC>GGC	p.S82G		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	82	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCCCCCCAGCATGCGCGT	0.672000													9	15					0	0	0.058154	0	0
ZNRF2	223082	broad.mit.edu	37	7	30325442	30325442	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08									Somatic	Phase_I	Capture				Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:30325442delG	uc003tat.2	+	1	1520	c.469delG	c.(469-471)GGAfs	p.G157fs		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	zinc finger/RING finger 2	157						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding				0						CATGTTTGGAGGTACGGACCC	0.478													2	4	---	---	---	---					
