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
SLC44A5	204962	broad.mit.edu	37	1	75685524	75685524	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:75685524A>G	uc001dgu.2	-	15	1283	c.1139T>C	c.(1138-1140)TTG>TCG	p.L380S	SLC44A5_uc001dgt.2_Missense_Mutation_p.L380S|SLC44A5_uc001dgs.2_Missense_Mutation_p.L338S|SLC44A5_uc001dgr.2_Missense_Mutation_p.L338S|SLC44A5_uc010oqz.1_Missense_Mutation_p.L419S|SLC44A5_uc010ora.1_Missense_Mutation_p.L374S|SLC44A5_uc010orb.1_Missense_Mutation_p.L250S	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5 isoform A	380	Helical; (Potential).					integral to membrane|plasma membrane	choline transmembrane transporter activity			ovary(2)|skin(2)	4						GATTGAGAGCAAAATGAAAGT	0.368000													7	35					0	0	0.307466	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	77093225	77093225	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:77093225A>T	uc001dhh.2	+	4	875	c.712A>T	c.(712-714)ATA>TTA	p.I238L	ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	sialyltransferase 7C isoform 1	238	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			ovary(3)|skin(2)	5						CTACGGGATGATAAATGACAC	0.413000													36	148					0	0	0.796494	0	0
Unknown	0	broad.mit.edu	37	1	148882001	148882001	+	RNA	SNP	C	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:148882001C>T	uc009wkv.1	+	3		c.222C>T								Homo sapiens cDNA, FLJ17483.																		ACTCTGTGCTCGATATGGTTG	0.333000													6	49					0	0	0.248553	0	0
OLFML2B	25903	broad.mit.edu	37	1	161967933	161967933	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:161967933C>T	uc001gbu.2	-	6	1580	c.1156G>A	c.(1156-1158)GCC>ACC	p.A386T	OLFML2B_uc010pkq.1_Missense_Mutation_p.A387T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	386										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCATGGTTGGCGATGCTGGGA	0.612000													46	157					0	0	0.870114	0	0
MPP7	143098	broad.mit.edu	37	10	28414006	28414006	+	Silent	SNP	C	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:28414006C>T	uc001iua.1	-	9	866	c.462G>A	c.(460-462)AAG>AAA	p.K154K	MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.K154K|MPP7_uc009xla.2_Silent_p.K154K|MPP7_uc010qdv.1_RNA	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	palmitoylated membrane protein 7	154	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			ovary(1)	1						GTTCATCCTTCTTAATGGTAG	0.403000													7	114					0	0	0.278610	0	0
C10orf93	255352	broad.mit.edu	37	10	134752146	134752146	+	Silent	SNP	G	A	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:134752146G>A	uc001llt.1	-	5	559	c.483C>T	c.(481-483)AAC>AAT	p.N161N	C10orf93_uc001llu.2_Silent_p.N161N	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	161							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		GACTCAGCACGTTTATGATTT	0.577000													33	71					0	0	0.750413	0	0
OR5AN1	390195	broad.mit.edu	37	11	59132063	59132063	+	Silent	SNP	C	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:59132063C>T	uc010rks.1	+	1	132	c.132C>T	c.(130-132)CTC>CTT	p.L44L		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						CCTGGAACCTCTCCCTCATTG	0.428000													49	182					0	0	0.870114	0	0
MYO7A	4647	broad.mit.edu	37	11	76877199	76877199	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:76877199T>A	uc001oyb.2	+	15	2060	c.1788T>A	c.(1786-1788)GAT>GAA	p.D596E	MYO7A_uc010rsl.1_Missense_Mutation_p.D596E|MYO7A_uc010rsm.1_Missense_Mutation_p.D585E|MYO7A_uc001oyc.2_Missense_Mutation_p.D596E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	myosin VIIA isoform 1	596	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(3)|breast(1)	4						TCCAGGCCGATGTCGCCATGG	0.587000													12	38					0	0	0.435327	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85518292	85518292	+	Silent	SNP	A	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:85518292A>G	uc001tac.2	+	17	4113	c.4002A>G	c.(4000-4002)GAA>GAG	p.E1334E	LRRIQ1_uc001tab.1_Silent_p.E1334E	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AGCCTAGTGAAAAAATGTAAG	0.323000													50	93					0	0	0.870114	0	0
KSR2	283455	broad.mit.edu	37	12	118199044	118199044	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:118199044C>T	uc001two.2	-	4	726	c.671G>A	c.(670-672)CGG>CAG	p.R224Q		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	253	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCGCTGCCGGGGCGATGG	0.716000													83	102					0	0	0.870114	0	0
ANAPC5	51433	broad.mit.edu	37	12	121790075	121790075	+	Silent	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:121790075C>G	uc001uag.2	-	1	191	c.69G>C	c.(67-69)GTG>GTC	p.V23V	ANAPC5_uc001uah.2_Intron	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	anaphase-promoting complex subunit 5 isoform a	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			skin(3)|breast(2)|kidney(1)	6	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGCCGAACACATTGGCGT	0.632000													17	84					0	0	0.539581	0	0
KDM2B	84678	broad.mit.edu	37	12	122012481	122012481	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:122012481A>C	uc001uat.2	-	4	472	c.368T>G	c.(367-369)TTC>TGC	p.F123C	KDM2B_uc001uas.2_Missense_Mutation_p.F92C|KDM2B_uc001uau.2_Missense_Mutation_p.F6C|KDM2B_uc001uav.3_Missense_Mutation_p.F123C	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	123					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2						TCGGACTGTGAAATCAGGGTC	0.567000													31	81					0	0	0.750413	0	0
DKFZp686A1627	266695	broad.mit.edu	37	13	19625369	19625369	+	RNA	SNP	C	A	A	rs7985527		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr13:19625369C>A	uc001umb.1	-	8		c.3154G>T				NR_002801				Homo sapiens mRNA; cDNA DKFZp686A1627 (from clone DKFZp686A1627).												0						CTGTCCTTCACACAGATCAGG	0.567000													4	24					0.00024832	0.000252835	0.150653	1	0
SOS2	6655	broad.mit.edu	37	14	50655245	50655245	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:50655245A>C	uc001wxs.3	-	5	782	c.684T>G	c.(682-684)TTT>TTG	p.F228L	SOS2_uc010tql.1_Missense_Mutation_p.F228L	NM_006939	NP_008870	Q07890	SOS2_HUMAN	son of sevenless homolog 2	228	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)	2	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATCAGAAAGAAAGGCTTCTC	0.338000													11	56					0	0	0.361761	0	0
C14orf145	145508	broad.mit.edu	37	14	81209521	81209521	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:81209521G>C	uc001xux.2	-	18	2875	c.2704C>G	c.(2704-2706)CTC>GTC	p.L902V	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	902	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)		AAATTCCTGAGTTGTTGTCTG	0.418000													35	53					0	0	0.788014	0	0
SERPINA13	388007	broad.mit.edu	37	14	95107273	95107273	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:95107273C>G	uc001ydt.2	+	1	212	c.124C>G	c.(124-126)CCT>GCT	p.P42A		NR_015340				RecName: Full=Serpin A13; Flags: Precursor;											lung(1)|skin(1)	2						CCATGAGTCACCTCCTGGCCC	0.289000													2	10					0	0	0.115264	0	0
TSC2	7249	broad.mit.edu	37	16	2122981	2122981	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:2122981A>C	uc002con.2	+	21	2458	c.2352A>C	c.(2350-2352)AAA>AAC	p.K784N	TSC2_uc010bsd.2_Missense_Mutation_p.K784N|TSC2_uc002coo.2_Missense_Mutation_p.K784N|TSC2_uc010uvv.1_Missense_Mutation_p.K747N|TSC2_uc010uvw.1_Missense_Mutation_p.K735N|TSC2_uc002cop.2_Missense_Mutation_p.K584N	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	784					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)				ACAAAACCAAACAGGTAGGAG	0.547000			D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				12	45					0	0	0.411799	0	0
ACSM2A	123876	broad.mit.edu	37	16	20492162	20492162	+	Silent	SNP	G	A	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:20492162G>A	uc010bwe.2	+	13	1667	c.1428G>A	c.(1426-1428)TCG>TCA	p.S476S	ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.3_Silent_p.S476S|ACSM2A_uc002dhg.3_Silent_p.S476S|ACSM2A_uc010vay.1_Silent_p.S397S|ACSM2A_uc002dhh.3_Silent_p.S106S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			skin(2)|breast(1)	3						TTGGACCCTCGGAGGTAGAGA	0.567000													23	95					0	0	0.654019	0	0
POLR2C	5432	broad.mit.edu	37	16	57504925	57504925	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57504925C>G	uc002elt.1	+	9	808	c.722C>G	c.(721-723)CCT>CGT	p.P241R		NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	241					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						TCTCTGCGTCCTGAAACCATT	0.512000													6	108					0	0	0.248553	0	0
CCDC135	84229	broad.mit.edu	37	16	57741426	57741426	+	Missense_Mutation	SNP	G	A	A	rs114224823	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57741426G>A	uc002emi.2	+	7	1002	c.913G>A	c.(913-915)GTC>ATC	p.V305I	CCDC135_uc002emj.2_Missense_Mutation_p.V305I|CCDC135_uc002emk.2_Missense_Mutation_p.V240I	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	305						cytoplasm				central_nervous_system(1)	1						GCACTCCTGGGTCCTTGTGCT	0.592000													4	64					0	0	0.150653	0	0
CMTM2	146225	broad.mit.edu	37	16	66621965	66621965	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:66621965A>C	uc002ept.2	+	4	850	c.690A>C	c.(688-690)GAA>GAC	p.E230D	CMTM2_uc010cdu.2_Missense_Mutation_p.E177D	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	chemokine-like factor superfamily 2	230					chemotaxis	extracellular space|integral to membrane	cytokine activity			ovary(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AGGGACCAGAACCCGCCAAGC	0.532000													7	55					0	0	0.779181	0	0
FAM65A	79567	broad.mit.edu	37	16	67578714	67578714	+	Silent	SNP	G	A	A	rs146173403		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:67578714G>A	uc010vjp.1	+	16	3006	c.2910G>A	c.(2908-2910)CCG>CCA	p.P970P	FAM65A_uc002eth.2_Silent_p.P950P|FAM65A_uc010cej.2_Silent_p.P953P|FAM65A_uc010vjq.1_Silent_p.P964P|FAM65A_uc002etk.2_Silent_p.P948P	NM_024519	NP_078795	Q6ZS17	FA65A_HUMAN	hypothetical protein LOC79567	954						cytoplasm	binding			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGAGATCCCGGCCAGCTCTG	0.652000													31	99					0	0	0.740014	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	T	T	rs11540652		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7577538C>T	uc002gim.2	-	7	937	c.743G>A	c.(742-744)CGG>CAG	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	248	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; 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.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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)			12	66					0	0	0.457914	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7578475G>T	uc002gim.2	-	5	649	c.455C>A	c.(454-456)CCG>CAG	p.P152Q	TP53_uc002gig.1_Missense_Mutation_p.P152Q|TP53_uc002gih.2_Missense_Mutation_p.P152Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P20Q|TP53_uc010cng.1_Missense_Mutation_p.P20Q|TP53_uc002gii.1_Missense_Mutation_p.P20Q|TP53_uc010cnh.1_Missense_Mutation_p.P152Q|TP53_uc010cni.1_Missense_Mutation_p.P152Q|TP53_uc002gij.2_Missense_Mutation_p.P152Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P59Q|TP53_uc002gio.2_Missense_Mutation_p.P20Q|TP53_uc010vug.1_Missense_Mutation_p.P113Q	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	152	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (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.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(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)		GGTGCCGGGCGGGGGTGTGGA	0.612000		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)			19	59					2.94398e-08	3.05302e-08	0.557998	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	C	C	rs79096325		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:60342186T>C	uc010woz.1	-	14		c.1943A>G				NR_027486				Homo sapiens cDNA FLJ60189 complete cds, highly similar to TBC1 domain family member 3.												0						GCTGGGGGTGTTGGGAGGGGC	0.493000													3	25					0	0	0.184627	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	C	C	rs76635225		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:60342197T>C	uc010woz.1	-	14		c.1932A>G				NR_027486				Homo sapiens cDNA FLJ60189 complete cds, highly similar to TBC1 domain family member 3.												0						TGGGAGGGGCTGGGCATGGTT	0.488000													3	31					0	0	0.184627	0	0
TMEM104	54868	broad.mit.edu	37	17	72832811	72832811	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:72832811C>G	uc002jls.3	+	10	1638	c.1476C>G	c.(1474-1476)AGC>AGG	p.S492R	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Missense_Mutation_p.S492R	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	transmembrane protein 104	492	Extracellular (Potential).					integral to membrane					0	all_lung(278;0.23)					TCATCCTCAGCGAGACCAAGC	0.602000													14	41					0	0	0.435327	0	0
MGAT5	4249	broad.mit.edu	37	2	135180442	135180442	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:135180442C>G	uc002ttv.1	+	13	1891	c.1746C>G	c.(1744-1746)AAC>AAG	p.N582K		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	582	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCTCAACAATCAGGAGG	0.448000													16	76					0	0	0.520397	0	0
TTN	7273	broad.mit.edu	37	2	179413638	179413638	+	Silent	SNP	G	A	A	rs140576051	by1000genomes	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:179413638G>A	uc010zfg.1	-	288	85235	c.85011C>T	c.(85009-85011)GGC>GGT	p.G28337G	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G22032G|TTN_uc010zfi.1_Silent_p.G21965G|TTN_uc010zfj.1_Silent_p.G21840G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	29264							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCTGTCGCCTTTTCCAG	0.423000													21	77					0	0	0.575678	0	0
DNAJC10	54431	broad.mit.edu	37	2	183593668	183593668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:183593668C>T	uc002uow.1	+	7	995	c.580C>T	c.(580-582)CGA>TGA	p.R194*	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R194*|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	194	Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATGCTTTGCCGAATGAAAGG	0.378000													17	94					0	0	0.500413	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	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 								21	73					0	0	0.624587	0	0
DERL3	91319	broad.mit.edu	37	22	24179853	24179853	+	Silent	SNP	G	A	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:24179853G>A	uc002zyh.2	-	5	541	c.516C>T	c.(514-516)GAC>GAT	p.D172D	DERL3_uc002zyk.3_Silent_p.D172D|DERL3_uc002zyi.2_Silent_p.D172D|DERL3_uc002zyj.2_Missense_Mutation_p.P129S	NM_001002862	NP_001002862	Q96Q80	DERL3_HUMAN	derlin 3 isoform 2	172	Helical; Name=4; (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)	1						CACCCAGCAGGTCCACGAGGA	0.642000													8	30					0	0	0.278610	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070216	114070216	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr3:114070216G>A	uc003ebi.2	-	4	889	c.709C>T	c.(709-711)CAG>TAG	p.Q237*	ZBTB20_uc003ebj.2_Nonsense_Mutation_p.Q164*|ZBTB20_uc010hqp.2_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebk.2_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebl.2_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebm.2_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebn.2_Nonsense_Mutation_p.Q164*|uc003ebo.1_5'Flank	NM_015642	NP_056457	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20 isoform	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|skin(1)	5				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGCTGTGCTGTGGGTGGCTC	0.657000													33	85					0	0	0.750413	0	0
STK32B	55351	broad.mit.edu	37	4	5461892	5461892	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:5461892C>G	uc003gih.1	+	9	910	c.846C>G	c.(844-846)TAC>TAG	p.Y282*	STK32B_uc010ida.1_Nonsense_Mutation_p.Y235*	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	282	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GCGTGCCCTACTTGGCCGACA	0.562000											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	120					0	0	0.387290	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815630	23815630	+	Silent	SNP	T	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:23815630T>C	uc003gqs.2	-	8	1596	c.1476A>G	c.(1474-1476)GAA>GAG	p.E492E	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	492					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TGGAGAATTGTTCATTACTGA	0.458000													30	112					0	0	0.706142	0	0
ITIH5L	347365	broad.mit.edu	37	X	54784174	54784174	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:54784174C>T	uc004dtj.2	-	8	2363	c.2333G>A	c.(2332-2334)TGT>TAT	p.C778Y		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	inter-alpha (globulin) inhibitor H5-like	778	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			lung(2)|skin(2)|ovary(1)|breast(1)	6						TGGAGTAACACATTTCACAGT	0.537000													29	113					0	0	0.693898	0	0
ATRX	546	broad.mit.edu	37	X	76890195	76890195	+	Splice_Site	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:76890195C>G	uc004ecp.3	-	17	4932	c.4700_splice	c.e17-1	p.G1567_splice	ATRX_uc004ecq.3_Splice_Site_p.G1529_splice|ATRX_uc004eco.3_Splice_Site_p.G1352_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1						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)	AACTGAACACCTAAAAATAAC	0.353000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						35	128					0	0	0.796494	0	0
MIR361	494323	broad.mit.edu	37	X	85158665	85158665	+	RNA	SNP	G	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:85158665G>C	hsa-mir-361|MI0000760	-			c.48G>C			CHM_uc004eet.2_Intron|CHM_uc011mqz.1_Intron																	0						tcacacctgggggactttttg	0.299000													38	101					0	0	0.796494	0	0
GPRASP2	114928	broad.mit.edu	37	X	101970909	101970909	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:101970909A>G	uc004ejk.2	+	4	2446	c.1112A>G	c.(1111-1113)GAC>GGC	p.D371G	GPRASP2_uc004ejl.2_Missense_Mutation_p.D371G|GPRASP2_uc004ejm.2_Missense_Mutation_p.D371G|GPRASP2_uc011mrp.1_5'Flank	NM_138437	NP_612446	Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting	371						cytoplasm	protein binding			ovary(1)	1						AAAGATGTTGACAGTGATAGG	0.483000													14	85					0	0	0.435327	0	0
RAB33A	9363	broad.mit.edu	37	X	129318702	129318702	+	Silent	SNP	C	G	G			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:129318702C>G	uc004evl.2	+	2	966	c.702C>G	c.(700-702)TCC>TCG	p.S234S	RAB33A_uc010nre.2_RNA	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Ras-related protein Rab-33A	234					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding				0						GTAAAACTTCCTGTCCTTGTT	0.438000													5	55					0	0	0.184627	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995062	140995062	+	Silent	SNP	T	C	C			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:140995062T>C	uc004fbt.2	+	4	2158	c.1872T>C	c.(1870-1872)TCT>TCC	p.S624S	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	624							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCTTCTCTCCAGAGCC	0.567000										HNSCC(15;0.026)			142	401					0	0	0.870114	0	0
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	-	-	rs78912196		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08									Somatic	Phase_I	Capture				Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:60148570delA	uc001jkf.2	+	4	564	c.432delA	c.(430-432)ACAfs	p.T144fs	TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Frame_Shift_Del_p.T144fs	NM_003201	NP_003192	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial precursor	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity				0						AAGCTATGACAAAAAAAAAAG	0.269													8	91	---	---	---	---					
