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
VPS13D	55187	broad.mit.edu	37	1	12439544	12439544	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:12439544A>G	uc001atv.2	+	57	11225	c.11084A>G	c.(11083-11085)TAC>TGC	p.Y3695C	VPS13D_uc001atw.2_Missense_Mutation_p.Y3670C|VPS13D_uc001atx.2_Missense_Mutation_p.Y2882C|VPS13D_uc009vnl.2_RNA	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	3694					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCAGATACGAGCCACTG	0.498000													36	53					0	0	0.847076	0	0
C1orf183	55924	broad.mit.edu	37	1	112270041	112270041	+	Missense_Mutation	SNP	C	T	T	rs142952172		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:112270041C>T	uc001ebo.1	-	2	601	c.443G>A	c.(442-444)CGG>CAG	p.R148Q	C1orf183_uc001ebp.1_Missense_Mutation_p.R133Q	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	148										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)		ATTCCGGCCCCGGGACATCAA	0.587000													34	37					0	0	0.796494	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:145367767G>A	uc001end.3	+	85	10623	c.10588G>A	c.(10588-10590)GAA>AAA	p.E3530K	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	hypothetical protein LOC100132406	3455											0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.254000													3	39					0	0	0.115264	0	0
Unknown	0	broad.mit.edu	37	1	148889678	148889678	+	RNA	SNP	C	T	T	rs4950650		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:148889678C>T	uc009wkv.1	+	7		c.765C>T								Homo sapiens cDNA, FLJ17483.																		ACCCTATATGCCTGCGTCTAA	0.398000													4	59					0	0	0.278610	0	0
FASLG	356	broad.mit.edu	37	1	172634805	172634805	+	Silent	SNP	C	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:172634805C>A	uc001gis.2	+	4	652	c.495C>A	c.(493-495)ACC>ACA	p.T165T	FASLG_uc001git.2_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	fas ligand	165	Extracellular (Potential).				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			lung(2)|breast(1)	3						GGGAAGACACCTATGGAATTG	0.428000													5	68					4.096e-09	4.288e-09	0.217242	1	0
OR2T33	391195	broad.mit.edu	37	1	248436679	248436680	+	Missense_Mutation	DNP	AC	GG	GG			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:248436679_248436680AC>GG	uc010pzi.1	-	1	437_438	c.437_438GT>CC	c.(436-438)TGT>TCC	p.C146S		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCAGGAGCCAACACGACATGGT	0.579000													3	113					0	0	0.115264	0	0
GATA3	2625	broad.mit.edu	37	10	8100386	8100386	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:8100386G>A	uc001ika.2	+	3	917	c.360G>A	c.(358-360)ACG>ACA	p.T120T	GATA3_uc001ijz.2_Silent_p.T120T	NM_002051	NP_002042	P23771	GATA3_HUMAN	GATA binding protein 3 isoform 2	120					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			breast(17)|ovary(3)|central_nervous_system(2)	22						TCTCCAAGACGTCCATCCACC	0.697000			F|N|S		breast		HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE)						75	116					0	0	0.870114	0	0
FRMD4A	55691	broad.mit.edu	37	10	13698931	13698931	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:13698931G>A	uc001ims.2	-	22	3010	c.2658C>T	c.(2656-2658)GGC>GGT	p.G886G	FRMD4A_uc009xjf.1_Silent_p.G886G	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	886						cytoplasm|cytoskeleton	binding			ovary(1)|skin(1)|pancreas(1)	3						CGTCGCCGCCGCCGCCGCGCC	0.716000													4	8					0	0	0.150653	0	0
OR4X2	119764	broad.mit.edu	37	11	48267032	48267032	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:48267032C>G	uc001ngs.1	+	1	377	c.377C>G	c.(376-378)ACC>AGC	p.T126S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AGCTACACCACCATCATGAAC	0.498000													6	87					0	0	0.217242	0	0
CPSF7	79869	broad.mit.edu	37	11	61178544	61178544	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:61178544G>A	uc001nrq.2	-	9	1421	c.1287C>T	c.(1285-1287)AGC>AGT	p.S429S	CPSF7_uc001nro.2_Silent_p.S420S|CPSF7_uc001nrp.2_Silent_p.S472S|CPSF7_uc001nrr.2_Silent_p.S420S	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	pre-mRNA cleavage factor I, 59 kDa subunit	429	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)	1						CCCGGGACCGGCTAGGTGACC	0.502000													46	68					0	0	0.870114	0	0
FGF3	2248	broad.mit.edu	37	11	69631175	69631175	+	Silent	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:69631175C>T	uc001oph.2	-	2	728	c.237G>A	c.(235-237)ACG>ACA	p.T79T		NM_005247	NP_005238	P11487	FGF3_HUMAN	fibroblast growth factor 3 precursor	79					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity			ovary(1)|lung(1)	2			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCTCCACTGCCGTTATCTCCA	0.622000													4	95					0	0	0.184627	0	0
TYR	7299	broad.mit.edu	37	11	88961080	88961080	+	Missense_Mutation	SNP	C	G	G	rs61754389		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:88961080C>G	uc001pcs.2	+	3	1208	c.1126C>G	c.(1126-1128)CAG>GAG	p.Q376E		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	376	Lumenal, melanosome (Potential).			TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGG	0.413000									Oculocutaneous_Albinism				15	103					0	0	0.608945	0	0
C11orf65	160140	broad.mit.edu	37	11	108256655	108256655	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:108256655T>C	uc001pkh.2	-	8	849	c.779A>G	c.(778-780)AAC>AGC	p.N260S	C11orf65_uc010rvx.1_Missense_Mutation_p.N211S|C11orf65_uc009yxu.1_RNA	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	hypothetical protein LOC160140	260										ovary(1)	1		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACCTTTGAAGTTAGCCGAAGA	0.333000													13	197					0	0	0.457914	0	0
NNMT	4837	broad.mit.edu	37	11	114182852	114182852	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:114182852G>A	uc001por.1	+	5	712	c.448G>A	c.(448-450)GGG>AGG	p.G150R	NNMT_uc001pos.1_Missense_Mutation_p.G150R	NM_006169	NP_006160	P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	150					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			ovary(1)	1		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGCCACTGGGGGCCGTCCC	0.602000													82	71					0	0	0.870114	0	0
ITPR2	3709	broad.mit.edu	37	12	26985668	26985668	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:26985668G>A	uc001rhg.2	-	1	464	c.47C>T	c.(46-48)TCC>TTC	p.S16F	ITPR2_uc001rhh.1_5'UTR|ITPR2_uc001rhi.1_Missense_Mutation_p.S16F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	16	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					CGCGTACAGGGACACGATGTC	0.622000													27	123					0	0	0.760397	0	0
C12orf63	374467	broad.mit.edu	37	12	97151344	97151344	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:97151344C>T	uc001tet.1	+	25	3371	c.3293C>T	c.(3292-3294)TCA>TTA	p.S1098L		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	1098										skin(6)|ovary(1)	7						ATAAAAATTTCAGGATCACCA	0.303000													6	15					0	0	0.217242	0	0
IGDCC4	57722	broad.mit.edu	37	15	65684524	65684524	+	Silent	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:65684524C>T	uc002aou.1	-	11	2280	c.2070G>A	c.(2068-2070)GTG>GTA	p.V690V	IGDCC4_uc002aot.1_Silent_p.V278V	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	690	Extracellular (Potential).|Fibronectin type-III 3.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3						GGACAGGCCCCACATCCCAAG	0.622000													52	84					0	0	0.870114	0	0
IGF1R	3480	broad.mit.edu	37	15	99467178	99467178	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:99467178G>A	uc002bul.2	+	12	2609	c.2559G>A	c.(2557-2559)CCG>CCA	p.P853P	IGF1R_uc010bon.2_Silent_p.P853P|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	853	Extracellular (Potential).|Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TAAAGTGGCCGGAACCTGAGA	0.463000													3	96					0	0	0.115264	0	0
MGRN1	23295	broad.mit.edu	37	16	4732911	4732911	+	Silent	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:4732911C>T	uc002cwz.2	+	14	1582	c.1446C>T	c.(1444-1446)GGC>GGT	p.G482G	MGRN1_uc002cxa.2_Silent_p.G482G|MGRN1_uc010btx.2_Silent_p.G461G|MGRN1_uc010btw.2_Silent_p.G461G|MGRN1_uc002cxb.2_Silent_p.G521G|MGRN1_uc010uxo.1_Silent_p.G460G|MGRN1_uc010uxp.1_Silent_p.G460G|MGRN1_uc010uxq.1_RNA	NM_001142290	NP_001135762	O60291	MGRN1_HUMAN	mahogunin, ring finger 1 isoform 3	482					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|skin(1)	2						CACTGGGTGGCGCAGAGCTGG	0.701000													12	13					0	0	0.457914	0	0
IRF8	3394	broad.mit.edu	37	16	85952180	85952180	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:85952180G>A	uc002fjh.2	+	7	816	c.759G>A	c.(757-759)CCG>CCA	p.P253P	IRF8_uc010chp.2_Intron	NM_002163	NP_002154	Q02556	IRF8_HUMAN	interferon regulatory factor 8	253					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|ovary(1)	3		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741000													14	5					0	0	0.520397	0	0
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7577570C>T	uc002gim.2	-	7	905	c.711G>A	c.(709-711)ATG>ATA	p.M237I	TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.2_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	237	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		M -> L (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(99)|p.M237K(8)|p.0?(7)|p.M237V(6)|p.M237fs*10(4)|p.M237R(3)|p.M237T(2)|p.M237L(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.M237_N239delMCN(1)|p.H233fs*6(1)|p.M144I(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567000		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)			35	51					0	0	0.870114	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7578263G>A	uc002gim.2	-	6	780	c.586C>T	c.(586-588)CGA>TGA	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.2_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.1_Nonsense_Mutation_p.R157*	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	196	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> G (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.R196*(125)|p.R196P(12)|p.0?(7)|p.R196R(5)|p.R196fs*51(4)|p.A189_V197delAPPQHLIRV(4)|p.R196Q(3)|p.K164_P219del(1)|p.R196L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.R64*(1)|p.I195fs*12(1)|p.R103*(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			24	38					0	0	0.681144	0	0
CLUL1	27098	broad.mit.edu	37	18	618009	618009	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:618009G>A	uc002kkp.2	+	2	154	c.9G>A	c.(7-9)CCG>CCA	p.P3P	CLUL1_uc010wys.1_Silent_p.P55P|CLUL1_uc002kkq.2_Silent_p.P3P	NM_014410	NP_055225	Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal) precursor	3					cell death	extracellular region				ovary(2)	2						ACATGAAGCCGCCACTCTTGG	0.448000													5	34					0	0	0.278610	0	0
LIPG	9388	broad.mit.edu	37	18	47107968	47107968	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:47107968T>C	uc002ldv.2	+	6	1229	c.977T>C	c.(976-978)ATG>ACG	p.M326T	LIPG_uc002ldu.1_Missense_Mutation_p.M326T|LIPG_uc010xdh.1_Missense_Mutation_p.M252T	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	endothelial lipase precursor	326	Heparin-binding (By similarity).				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			ovary(1)|skin(1)	2						GCCAAGAAAATGAGGAACAAG	0.493000													62	77					0	0	0.870114	0	0
NFATC1	4772	broad.mit.edu	37	18	77227575	77227575	+	Silent	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:77227575C>T	uc010xfg.1	+	8	2538	c.2085C>T	c.(2083-2085)CCC>CCT	p.P695P	NFATC1_uc002lnc.1_Silent_p.P695P|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.2_Silent_p.P695P|NFATC1_uc002lne.2_Silent_p.P223P|NFATC1_uc010xfh.1_Silent_p.P695P|NFATC1_uc010xfi.1_Silent_p.P682P|NFATC1_uc010xfj.1_Silent_p.P223P|NFATC1_uc002lnf.2_Silent_p.P682P|NFATC1_uc002lng.2_Silent_p.P682P|NFATC1_uc010xfk.1_Silent_p.P682P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytosolic	695					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTACCTTCCCGCCAACGGTA	0.532000													24	46					0	0	0.706142	0	0
ZNF57	126295	broad.mit.edu	37	19	2917793	2917793	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:2917793T>C	uc002lwr.2	+	4	1322	c.1174T>C	c.(1174-1176)TAT>CAT	p.Y392H	ZNF57_uc010xha.1_Missense_Mutation_p.Y360H	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	392	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCAGCTCTATAAATGTGA	0.438000													4	75					0	0	0.217242	0	0
MUC16	94025	broad.mit.edu	37	19	9062722	9062722	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:9062722T>C	uc002mkp.2	-	3	24928	c.24724A>G	c.(24724-24726)ACC>GCC	p.T8242A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8244	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						ACAAGAGTGGTCATCTCTGAG	0.498000													26	25					0	0	0.750413	0	0
HKR1	284459	broad.mit.edu	37	19	37838730	37838730	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:37838730C>T	uc002ogb.2	+	5	538	c.269C>T	c.(268-270)GCG>GTG	p.A90V	HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_5'UTR|HKR1_uc002ofz.2_Missense_Mutation_p.A71V|HKR1_uc002oga.2_Missense_Mutation_p.A71V|HKR1_uc010xto.1_Missense_Mutation_p.A71V|HKR1_uc002ogc.2_Missense_Mutation_p.A71V|HKR1_uc010xtp.1_Missense_Mutation_p.A29V|HKR1_uc002ogd.2_Missense_Mutation_p.A29V	NM_181786	NP_861451	P10072	HKR1_HUMAN	GLI-Kruppel family member HKR1	90	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGGGAAGCGCCCTGGAGA	0.493000													3	52					0	0	0.217242	0	0
RYR1	6261	broad.mit.edu	37	19	38995497	38995497	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:38995497A>G	uc002oit.2	+	51	8307	c.8177A>G	c.(8176-8178)AAG>AGG	p.K2726R	RYR1_uc002oiu.2_Missense_Mutation_p.K2726R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	2726	5.|Cytoplasmic.|6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGAAAAAGGCCACAGTG	0.597000													3	51					0	0	0.184627	0	0
MYPOP	339344	broad.mit.edu	37	19	46394511	46394511	+	Silent	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:46394511C>T	uc002pdt.2	-	3	657	c.570G>A	c.(568-570)CAG>CAA	p.Q190Q		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Myb protein P42POP	190	Pro-rich.					nucleus	DNA binding				0						AGCCCCCTTCCTGGGGAGTGC	0.438000													6	0					0	0	0.217242	0	0
ZC3H4	23211	broad.mit.edu	37	19	47593321	47593321	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:47593321G>A	uc002pga.3	-	5	656	c.618C>T	c.(616-618)GGC>GGT	p.G206G	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	206							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCGTCGCCCTCATATT	0.577000													39	72					0	0	0.859065	0	0
CCDC155	147872	broad.mit.edu	37	19	49898432	49898432	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:49898432G>A	uc002pnm.1	+	4	392	c.218G>A	c.(217-219)CGC>CAC	p.R73H	CCDC155_uc002pnl.1_Missense_Mutation_p.R73H|CCDC155_uc010emx.1_Missense_Mutation_p.R46H	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	73						integral to membrane	calcium ion binding			ovary(1)|central_nervous_system(1)	2						CAGGATGCACGCCTCCAAACA	0.622000													5	47					0	0	0.184627	0	0
APOB	338	broad.mit.edu	37	2	21230555	21230555	+	Nonsense_Mutation	SNP	A	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:21230555A>C	uc002red.2	-	26	9313	c.9185T>G	c.(9184-9186)TTA>TGA	p.L3062*		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	3062					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTAACCTTAATGGAAAACG	0.408000													4	63					0	0	0.217242	0	0
FLJ40330	645784	broad.mit.edu	37	2	89084114	89084114	+	Splice_Site	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:89084114G>A	uc010fhf.2	+	5		c.471_splice	c.e5-1		FLJ40330_uc010fhg.2_Splice_Site|FLJ40330_uc010fhh.2_Splice_Site					Homo sapiens mRNA; cDNA DKFZp434J1630 (from clone DKFZp434J1630).												0						TTGCTTTTCAGTGTCTTCTCA	0.313000													3	57					0	0	0.115264	0	0
TEKT4	150483	broad.mit.edu	37	2	95542422	95542422	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:95542422G>A	uc002stw.1	+	6	1309	c.1216G>A	c.(1216-1218)GCC>ACC	p.A406T	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	406	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3						GGACATTGCCGCCATGACCAA	0.592000													18	31					0	0	0.608945	0	0
ZEB2	9839	broad.mit.edu	37	2	145147369	145147369	+	Silent	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:145147369T>C	uc002tvu.2	-	10	3774	c.3294A>G	c.(3292-3294)AAA>AAG	p.K1098K	ZEB2_uc002tvv.2_Silent_p.K1092K|ZEB2_uc010zbm.1_Silent_p.K1069K|ZEB2_uc010fnp.2_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	zinc finger homeobox 1b	1098	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCAAGTGCCCTTTCTCGCGCG	0.617000													25	60					0	0	0.729181	0	0
LRP2	4036	broad.mit.edu	37	2	170030513	170030513	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170030513T>C	uc002ues.2	-	56	11143	c.10930A>G	c.(10930-10932)AAT>GAT	p.N3644D		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	3644	LDL-receptor class A 29.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCGGCCATTAGCACACCGA	0.542000													33	45					0	0	0.788014	0	0
PPIG	9360	broad.mit.edu	37	2	170488410	170488410	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170488410G>A	uc002uez.2	+	11	1116	c.896G>A	c.(895-897)AGG>AAG	p.R299K	PPIG_uc010fpx.2_Missense_Mutation_p.R284K|PPIG_uc010fpy.2_Missense_Mutation_p.R292K|PPIG_uc002ufa.2_Missense_Mutation_p.R299K|PPIG_uc002ufb.2_Missense_Mutation_p.R299K|PPIG_uc002ufd.2_Missense_Mutation_p.R296K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G	299					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|central_nervous_system(1)	3					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.284000													13	17					0	0	0.411799	0	0
DNAH7	56171	broad.mit.edu	37	2	196759888	196759888	+	Silent	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:196759888G>A	uc002utj.3	-	30	4809	c.4708C>T	c.(4708-4710)CTG>TTG	p.L1570L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1570					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12						ATAGCTGCCAGCAAATCATTG	0.343000													3	74					0	0	0.150653	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	T	T	rs121913499		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:209113113G>T	uc002vcs.2	-	4	640	c.394C>A	c.(394-396)CGT>AGT	p.R132S	IDH1_uc002vct.2_Missense_Mutation_p.R132S|IDH1_uc002vcu.2_Missense_Mutation_p.R132S	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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma 								47	45					2.73361e-28	2.95407e-28	0.870114	1	0
ZFAND2B	130617	broad.mit.edu	37	2	220072487	220072487	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:220072487C>G	uc002vka.2	+	3	440	c.268C>G	c.(268-270)CAG>GAG	p.Q90E	ZFAND2B_uc010zkt.1_Missense_Mutation_p.Q90E|ZFAND2B_uc010fwd.1_Missense_Mutation_p.Q90E|ZFAND2B_uc002vjy.1_Missense_Mutation_p.Q90E|ZFAND2B_uc002vjz.1_Missense_Mutation_p.Q90E|ZFAND2B_uc002vkb.1_5'UTR	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	90						endoplasmic reticulum	protein binding|zinc ion binding				0		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCCAGCACAGCAAAAACG	0.557000													10	82					0	0	0.411799	0	0
C20orf194	25943	broad.mit.edu	37	20	3356865	3356865	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:3356865T>C	uc002wii.2	-	4	419	c.368A>G	c.(367-369)CAT>CGT	p.H123R	C20orf194_uc002wik.2_5'Flank|C20orf194_uc010gay.1_RNA	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	123											0						ATTTCTCCAATGTGCCACATA	0.368000													35	27					0	0	0.870114	0	0
PCK1	5105	broad.mit.edu	37	20	56139236	56139236	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:56139236G>A	uc002xyn.3	+	7	1136	c.973G>A	c.(973-975)GCC>ACC	p.A325T	PCK1_uc010zzm.1_Missense_Mutation_p.A8T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	325					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A325V(1)		skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448000													9	40					0	0	0.387290	0	0
OR5H1	26341	broad.mit.edu	37	3	97852349	97852349	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:97852349C>G	uc011bgt.1	+	1	808	c.808C>G	c.(808-810)CAA>GAA	p.Q270E		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H,	270	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2						AGCAGATGATCAAGATATGGT	0.428000													39	37					0	0	0.834066	0	0
ACAD9	28976	broad.mit.edu	37	3	128628194	128628194	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:128628194C>G	uc003ela.3	+	15	1695	c.1493C>G	c.(1492-1494)GCC>GGC	p.A498G	ACAD9_uc011bks.1_Missense_Mutation_p.A375G|ACAD9_uc003elb.2_Missense_Mutation_p.A375G|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.A150G	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	498						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3						TAGGACAGTGCCAACAAGTTT	0.587000													41	86					0	0	0.870114	0	0
AADACL2	344752	broad.mit.edu	37	3	151461908	151461908	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:151461908G>C	uc003ezc.2	+	3	509	c.389G>C	c.(388-390)AGA>ACA	p.R130T	AADACL2_uc010hvn.2_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2 precursor	130						extracellular region|integral to membrane	carboxylesterase activity				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358000													41	58					0	0	0.870114	0	0
GPBP1	65056	broad.mit.edu	37	5	56546841	56546841	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:56546841C>T	uc003jrh.3	+	10	2307	c.1033C>T	c.(1033-1035)CGA>TGA	p.R345*	GPBP1_uc010iwg.2_Nonsense_Mutation_p.R365*|GPBP1_uc003jri.3_Nonsense_Mutation_p.R174*|GPBP1_uc003jrj.3_Nonsense_Mutation_p.R337*|GPBP1_uc003jrk.3_Nonsense_Mutation_p.R352*|GPBP1_uc003jrl.3_RNA	NM_022913	NP_075064	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1 isoform 1	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			large_intestine(1)|central_nervous_system(1)	2		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGATATAAACCGAAACTTCGA	0.353000													15	29					0	0	0.520397	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725486	140725486	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140725486C>T	uc003ljm.1	+	1	1886	c.1886C>T	c.(1885-1887)GCG>GTG	p.A629V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.A389V|PCDHGA3_uc011dap.1_Missense_Mutation_p.A629V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	629	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.697000													13	88					0	0	0.457914	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812212	140812212	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140812212C>T	uc003lkt.1	+	1	2055	c.1886C>T	c.(1885-1887)GCG>GTG	p.A629V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A629V	NM_003735	NP_003726	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12 isoform 1	629	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.687000													12	47					0	0	0.557998	0	0
BNIP1	662	broad.mit.edu	37	5	172590800	172590800	+	Missense_Mutation	SNP	G	A	A	rs148150409	byFrequency	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:172590800G>A	uc003mcj.3	+	6	667	c.563G>A	c.(562-564)CGG>CAG	p.R188Q	BNIP1_uc003mci.3_Missense_Mutation_p.R231Q|BNIP1_uc003mck.3_Missense_Mutation_p.R197Q|BNIP1_uc003mcl.3_Missense_Mutation_p.R154Q	NM_001205	NP_001196	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 1	188	Cytoplasmic (Potential).				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			ovary(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488000													3	87					0	0	0.184627	0	0
PBX2	5089	broad.mit.edu	37	6	32157564	32157564	+	Silent	SNP	C	A	A	rs151067717		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32157564C>A	uc003oav.1	-	1	400	c.129G>T	c.(127-129)GGG>GGT	p.G43G	PBX2_uc003oaw.2_Silent_p.G43G	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	43							transcription factor binding			ovary(1)	1						CTCCCGGGACCCCCCCGCTAC	0.602000													32	53					3.62531e-18	3.85549e-18	0.796494	1	0
UHRF1BP1	54887	broad.mit.edu	37	6	34827130	34827130	+	Silent	SNP	G	A	A	rs73419681	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:34827130G>A	uc003oju.3	+	14	3231	c.2997G>A	c.(2995-2997)GAG>GAA	p.E999E	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	999										ovary(3)	3						CTGGCAGGGAGACTGCTGTGA	0.552000													30	48					0	0	0.760397	0	0
KIF6	221458	broad.mit.edu	37	6	39513460	39513460	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:39513460C>G	uc003oot.2	-	11	1281	c.1186G>C	c.(1186-1188)GAA>CAA	p.E396Q	KIF6_uc010jxa.1_Missense_Mutation_p.E187Q|KIF6_uc011dua.1_Missense_Mutation_p.E396Q|KIF6_uc010jxb.1_Missense_Mutation_p.E396Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						ATTAGTTTTTCCAGCCTAAAA	0.338000													3	57					0	0	0.184627	0	0
C6orf118	168090	broad.mit.edu	37	6	165715396	165715396	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:165715396A>G	uc003qum.3	-	2	451	c.415T>C	c.(415-417)TCC>CCC	p.S139P	C6orf118_uc011egi.1_RNA	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	hypothetical protein LOC168090	139											0		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTGTGGGAAAGAGAGGCC	0.627000													18	102					0	0	0.608945	0	0
SDK1	221935	broad.mit.edu	37	7	4185446	4185446	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:4185446G>A	uc003smx.2	+	29	4460	c.4321G>A	c.(4321-4323)GAC>AAC	p.D1441N	SDK1_uc010kso.2_Missense_Mutation_p.D717N|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1441	Fibronectin type-III 8.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACAGCCACCGACCTGGCCCC	0.667000													93	48					0	0	0.870114	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897211	47897211	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:47897211G>A	uc003tny.1	-	28	4582	c.4582C>T	c.(4582-4584)CCT>TCT	p.P1528S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1528	Extracellular (Potential).|REJ.				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						ACCTGCCCAGGAGCTTGGCTC	0.493000													14	15					0	0	0.435327	0	0
PCLO	27445	broad.mit.edu	37	7	82580131	82580131	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:82580131T>C	uc003uhx.2	-	6	10062	c.9773A>G	c.(9772-9774)GAG>GGG	p.E3258G	PCLO_uc003uhv.2_Missense_Mutation_p.E3258G|PCLO_uc010lec.2_Missense_Mutation_p.E223G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3189	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7						CTGCAGCTCCTCCAACTTTTT	0.453000													10	136					0	0	0.387290	0	0
ABCB1	5243	broad.mit.edu	37	7	87214993	87214993	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:87214993G>A	uc003uiz.1	-	5	539	c.121C>T	c.(121-123)CGC>TGC	p.R41C	ABCB1_uc011khc.1_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	41	Cytoplasmic (Potential).				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.328000													18	35					0	0	0.539581	0	0
DOCK4	9732	broad.mit.edu	37	7	111617325	111617325	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:111617325T>A	uc003vfx.2	-	8	832	c.563A>T	c.(562-564)CAT>CTT	p.H188L	DOCK4_uc003vfy.2_Missense_Mutation_p.H188L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.H188L|DOCK4_uc003vgb.1_Missense_Mutation_p.H112L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCCGATGTCGATGTTC	0.502000													10	5					0	0	0.361761	0	0
SLC20A2	6575	broad.mit.edu	37	8	42297083	42297083	+	Silent	SNP	C	T	T			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr8:42297083C>T	uc010lxl.2	-	7	1513	c.819G>A	c.(817-819)GAG>GAA	p.E273E	SLC20A2_uc010lxm.2_Silent_p.E273E|SLC20A2_uc003xpe.2_Silent_p.E273E|SLC20A2_uc011lcu.1_Silent_p.E75E	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	273	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCTGGTAGCTCTTTAAATA	0.517000													103	140					0	0	0.870114	0	0
XIAP	331	broad.mit.edu	37	X	123034427	123034427	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:123034427A>G	uc010nqu.2	+	6	1310	c.1184A>G	c.(1183-1185)GAA>GGA	p.E395G	XIAP_uc004etx.2_Missense_Mutation_p.E395G|XIAP_uc010nqv.2_Missense_Mutation_p.E21G	NM_001167	NP_001158	P98170	XIAP_HUMAN	baculoviral IAP repeat-containing protein 4	395					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			ovary(1)|lung(1)	2						ATAATGGAGGAAAAAATTCAG	0.368000									X-linked_Lymphoproliferative_syndrome				31	5					0	0	0.750413	0	0
H2AFX	3014	broad.mit.edu	37	11	118965808	118965809	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:118965808_118965809insC	uc001pvg.2	-	1	369_370	c.296_297insG	c.(295-297)GGCfs	p.G99fs	H2AFX_uc001pvh.1_RNA	NM_002105	NP_002096	P16104	H2AX_HUMAN	H2A histone family, member X	99					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCGTCACGCCGCCCAGCAGCTT	0.693								Chromatin_Structure|Direct_reversal_of_damage			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	191	---	---	---	---					
SLC44A4	80736	broad.mit.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:31832672_31832674delAAG	uc010jti.2	-	19	1911_1913	c.1845_1847delCTT	c.(1843-1848)TTCTTT>TTT	p.615_616FF>F	NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	choline transporter-like protein 4	615_616	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													8	17	---	---	---	---					
CASP8AP2	9994	broad.mit.edu	37	6	90565237	90565237	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:90565237delA	uc003pnr.2	+	5	470	c.274delA	c.(274-276)AAAfs	p.K92fs	CASP8AP2_uc003pns.2_Frame_Shift_Del_p.K92fs|CASP8AP2_uc003pnt.2_Frame_Shift_Del_p.K92fs|CASP8AP2_uc011dzz.1_Frame_Shift_Del_p.K92fs	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2	92					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			ovary(2)	2		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAGCTGATGAAAAAATTTAA	0.184													2	4	---	---	---	---					
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:114270016_114270018delCAG	uc003vhb.2	+	5	927_929	c.553_555delCAG	c.(553-555)CAGdel	p.Q191del	FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_In_Frame_Del_p.Q216del|FOXP2_uc003vha.2_In_Frame_Del_p.Q99del|FOXP2_uc011kmu.1_In_Frame_Del_p.Q208del|FOXP2_uc011kmv.1_In_Frame_Del_p.Q191del|FOXP2_uc010ljz.1_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhd.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.2_In_Frame_Del_p.Q216del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	forkhead box P2 isoform I	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						gcagcagcaacagcagcagcagc	0.172													7	70	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76937745	76937745	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08									Somatic	Phase_I	Capture				Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:76937745delT	uc004ecp.3	-	9	3235	c.3003delA	c.(3001-3003)AAAfs	p.K1001fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.K963fs|ATRX_uc004eco.3_Frame_Shift_Del_p.K786fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K933fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K972fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K946fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1001					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)	TTTTAATTACTTTTTTCTTAA	0.338			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						52	8	---	---	---	---					
