Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
X97876	0	broad.mit.edu	37	9	66500870	66500870	+	RNA	SNP	C	C	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr9:66500870C>G	uc004aed.1	+	2		c.963C>G								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		CTACACGGAACTGCTGTTGGT	0.592000													3	41					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59830060	59830060	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:59830060G>A	uc001nom.3	+	2	404	c.276G>A	c.(274-276)ccG>ccA	p.P92P	MS4A3_uc001non.3_Intron|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	92						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.P92Q(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGGCTACCCGATTTGGGGTG	0.423000													47	57					0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123518058	123518058	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:123518058C>T	uc010nqy.3	-	29	6787	c.6723G>A	c.(6721-6723)ctG>ctA	p.L2241L	ODZ1_uc011muj.2_Silent_p.L2240L|ODZ1_uc004euj.3_Silent_p.L2234L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2234					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGGCTTTCTGCAGCAGGCCAT	0.458000													47	65					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89755723	89755723	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr16:89755723G>A	uc010cio.3	+	1	194	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	CDK10_uc002foa.2_Intron|CDK10_uc010cip.2_Intron|CDK10_uc010vpl.1_Intron|CDK10_uc002fob.2_Intron|CDK10_uc002fod.3_5'UTR|CDK10_uc002foe.3_5'UTR|CDK10_uc002fof.3_5'UTR|CDK10_uc002fog.4_Intron|CDK10_uc002foh.4_Intron	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	51	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGTACCTACGGCATTGTGTG	0.582000													28	41					0	0	1	0	0
LRRC43	254050	broad.mit.edu	37	12	122684844	122684844	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:122684844G>A	uc009zxm.3	+	7	1483	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	LRRC43_uc001ubw.4_Silent_p.L301L|LRRC43_uc009zxn.3_Silent_p.L247L	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	486										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTTCCTGCTGGCGGGGACCA	0.627000													6	108					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115109342	115109342	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:115109342T>C	uc001ppi.4	-	2	431	c.302A>G	c.(301-303)aAt>aGt	p.N101S	CADM1_uc001ppf.4_Missense_Mutation_p.N101S|CADM1_uc001ppk.4_Missense_Mutation_p.N101S|CADM1_uc001ppj.4_Missense_Mutation_p.N101S|CADM1_uc001ppl.3_Missense_Mutation_p.N101S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	101	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTAGAAAAATTCAGCAACTG	0.393000													27	27					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122756377	122756377	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr4:122756377G>T	uc003ied.3	-	13	1617	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	BBS7_uc003iee.2_Missense_Mutation_p.P478H	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	478					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGTTTTGGGTTGAATTCT	0.393000									Bardet-Biedl syndrome				18	44					5.3912e-06	5.70833e-06	1	1	0
IL18	3606	broad.mit.edu	37	11	112014361	112014361	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:112014361C>A	uc001pnb.2	-	5	760	c.540G>T	c.(538-540)ttG>ttT	p.L180F	IL18_uc001pna.2_Missense_Mutation_p.L154F|IL18_uc009yym.2_Missense_Mutation_p.L176F	NM_001562	NP_001553	Q14116	IL18_HUMAN	Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 1, mRNA.	180					T-helper 1 type immune response|angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of NK T cell proliferation|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|regulation of cell adhesion|sleep|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATCTATCCCCCAATTCATCCT	0.388000													6	10					0.0215528	0.0221686	1	1	0
LOC646813	646813	broad.mit.edu	37	11	50379403	50379403	+	RNA	SNP	T	T	C	rs692607	by1000genomes	TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:50379403T>C	uc001nhe.2	+	5		c.886T>C			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		TCCCTTTTAATTCATCAAAGC	0.348000													3	23					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91445220	91445220	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:91445220T>C	uc001tbl.3	-	2	1581	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	321					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTAGCGAAGATGAGGTCCATA	0.438000													12	28					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152485384	152485384	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:152485384C>T	uc021zhb.1	-	128	23927	c.23704G>A	c.(23704-23706)Gct>Act	p.A7902T	SYNE1_uc003qos.4_Missense_Mutation_p.A2426T|SYNE1_uc003qot.4_Missense_Mutation_p.A7831T|SYNE1_uc003qou.4_Missense_Mutation_p.A7902T|SYNE1_uc011eez.2_Missense_Mutation_p.A104T|SYNE1_uc003qoq.4_Missense_Mutation_p.A104T|SYNE1_uc003qor.4_Missense_Mutation_p.A802T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7902					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCGATGTGAGCGAGCCAGGTC	0.502000										HNSCC(10;0.0054)			58	25					0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153208518	153208518	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:153208518T>G	uc004fjo.2	-	5	646	c.476A>C	c.(475-477)gAg>gCg	p.E159A	RENBP_uc011mzh.1_Missense_Mutation_p.E159A	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	159					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATCCATCATCTCCACCGCTTC	0.711000													21	20					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350844	71350844	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:71350844C>T	uc010nlh.2	-	0	547	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.G183R|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	183										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCGGCGCCCCCGGGGAAATGA	0.582000													4	69					0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67414334	67414334	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:67414334G>C	uc004dww.4	-	12	1405	c.1111C>G	c.(1111-1113)Cac>Gac	p.H371D	OPHN1_uc011mpg.2_Missense_Mutation_p.H371D	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	371					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATAGGGCTGTGGTAGATCTAC	0.348000													19	25					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979043	107979043	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:107979043C>G	uc004eoc.2	-	0	565	c.532G>C	c.(532-534)Gcg>Ccg	p.A178P		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	178	PH.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCATCGCGAAGTATTCG	0.612000													27	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593263	179593263	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:179593263C>T	uc021vsy.1	-	62	15883	c.15658G>A	c.(15658-15660)Gga>Aga	p.G5220R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1881R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6147	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTGCTTCCGAAGTCATTT	0.398000													5	14					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100911318	100911318	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:100911318C>T	uc003pqj.4	-	0	494	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_uc021zdg.1_Silent_p.A9A|SIM1_uc010kcu.3_Silent_p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423000													24	148					0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113788702	113788702	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:113788702C>T	uc002tiq.1	-	2	148	c.44G>A	c.(43-45)cGt>cAt	p.R15H	IL36B_uc002tir.1_Missense_Mutation_p.R15H	NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	15					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TCGAGAATCACGAATAGCATA	0.478000													17	40					0	0	1	0	0
EIF4A2	1974	broad.mit.edu	37	3	186501406	186501406	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:186501406G>T	uc003fqs.3	+	0	46	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	EIF4A2_uc003fqu.3_Missense_Mutation_p.G3C|EIF4A2_uc003fqv.3_5'UTR|EIF4A2_uc003fqw.3_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.2_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	3					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.G3V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCATGTCTGGTGGCTCCGC	0.572000			T	BCL6	NHL								53	86					7.89702e-26	8.61493e-26	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								29	44					0	0	1	0	0
GNAL	2774	broad.mit.edu	37	18	11880999	11880999	+	Silent	SNP	G	G	A			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr18:11880999G>A	uc002kqc.2	+	11	1669	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	GNAL_uc002kqd.2_Silent_p.T337T|GNAL_uc010dkz.2_Silent_p.T337T|GNAL_uc010wzt.1_Silent_p.T130T	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	337					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity	p.S413T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGATCAGCACGGCCACCGGTG	0.622000													26	47					0	0	1	0	0
ROPN1L	83853	broad.mit.edu	37	5	10461352	10461352	+	Silent	SNP	C	C	T			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:10461352C>T	uc021xwo.1	+	4	657	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ROPN1L_uc003jex.4_Silent_p.G158G	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	158					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATCCGGAGGGCGGGCCCGCTC	0.567000													53	87					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578471	7578471	+	Frame_Shift_Del	DEL	G	G	-	rs137852790		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr17:7578471delG	uc002gim.2	-	4	653	c.459delC	c.(457-459)cccfs	p.P153fs	TP53_uc002gig.1_Frame_Shift_Del_p.P153fs|TP53_uc002gih.3_Frame_Shift_Del_p.P153fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.P21fs|TP53_uc010cnf.1_Frame_Shift_Del_p.P21fs|TP53_uc002gii.1_Frame_Shift_Del_p.P21fs|TP53_uc010cni.1_Frame_Shift_Del_p.P153fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P153fs|TP53_uc002gij.2_Frame_Shift_Del_p.P153fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.P60fs|TP53_uc002gio.2_Frame_Shift_Del_p.P21fs|TP53_uc010vug.2_Frame_Shift_Del_p.P114fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(63)|p.P152S(22)|p.P152fs*18(18)|p.P153P(14)|p.P153fs*28(11)|p.P152fs*14(10)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152R(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P152Q(4)|p.P153fs*26(4)|p.P153fs*22(4)|p.P152fs*28(3)|p.P153T(3)|p.P151_V173del23(2)|p.T150_P153delTPPP(2)|p.P152A(2)|p.D148_T155delDSTPPPGT(2)|p.P152fs*27(2)|p.Q144_G154del11(2)|p.G154fs*27(2)|p.P153_G154insX(2)|p.P153fs*16(1)|p.P152_P153del(1)|p.T57fs*16(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGCGGGTGCCGGGCGGGGGTG	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			70	28	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76813062	76813063	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:76813062_76813063insAG	uc004ecp.4	-	29	6790_6791	c.6558_6559insCT	c.(6556-6561)tcttttfs	p.S2186fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.S2148fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.S1971fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2186	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.L2185L(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACAACTCGAAAAGACAGTGACT	0.347			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						65	100	---	---	---	---					
