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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DSCAM	1826	broad.mit.edu	37	21	41684190	41684190	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr21:41684190G>A	uc002yyq.1	-	8	2332	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	627	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.I626V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGGTGATCGTGATGGGTAA	0.532000														107			11		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167160	89167160	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr16:89167160C>T	uc010cig.2	+	1	279	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Missense_Mutation_p.A24V|ACSF3_uc021tmq.1_Missense_Mutation_p.A24V|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	24					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CTGGCGCCTGCGAGACACAGA	0.677000														15			19		0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122743634	122743634	+	Silent	SNP	A	G	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr4:122743634A>G	uc003iec.4	-	1	686	c.381T>C	c.(379-381)gcT>gcC	p.A127A		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	127					Ras protein signal transduction|cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTGAATTAAAAGCCAGGGCAT	0.413000														171			4		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230641	56230641	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:56230641C>A	uc010rjj.2	-	0	237	c.237G>T	c.(235-237)atG>atT	p.M79I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGTTTTCCAGCATTTTGGGGG	0.453000														120			5		1.23904e-05	1.28177e-05	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71715034	71715034	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr11:71715034T>G	uc001orl.1	-	25	6407	c.6235A>C	c.(6235-6237)Aac>Cac	p.N2079H	NUMA1_uc001orj.2_Missense_Mutation_p.N261H|NUMA1_uc009ysw.1_Missense_Mutation_p.N1646H|NUMA1_uc001ork.1_Missense_Mutation_p.N943H|NUMA1_uc001orm.1_Missense_Mutation_p.N2065H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	2079					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCGAGTGTTGGGGGAAGCC	0.642000			T	RARA	APL									45			4		0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16975451	16975451	+	RNA	SNP	G	A	A	rs150272983	by1000genomes	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:16975451G>A	uc010och.2	+	8		c.1732G>A			MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		CGCGTGGCTGGGGGCCATCCG	0.597000														12			3		0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48545247	48545247	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chrX:48545247C>T	uc004dkm.4	+	6	694	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	213					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TTCACGATACCGTGGGCTCCC	0.567000			"""Mis, N, F, S"""			lymphoma								74			6		0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61653554	61653554	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:61653554C>T	uc003jsy.4	+	7	1002	c.691C>T	c.(691-693)Cga>Tga	p.R231*	KIF2A_uc003jsz.4_Nonsense_Mutation_p.R231*|KIF2A_uc003jsx.4_Nonsense_Mutation_p.R211*|KIF2A_uc010iwp.3_Nonsense_Mutation_p.R212*|KIF2A_uc010iwq.3_Nonsense_Mutation_p.R34*	NM_004520	NP_004511	O00139	KIF2A_HUMAN	Homo sapiens kinesin heavy chain member 2A (KIF2A), transcript variant 1, mRNA.	231	Kinesin-motor.				blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TGTAAGAAAACGACCACTCAA	0.254000														5			7		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118525451	118525451	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr5:118525451C>T	uc010jcl.1	+	28	7365	c.7184C>T	c.(7183-7185)cCg>cTg	p.P2395L	DMXL1_uc003ksd.2_Missense_Mutation_p.P2395L|DMXL1_uc021ycw.1_Missense_Mutation_p.P2222L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2395										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CGTTTTAGGCCGTCAAAAATG	0.403000														278			4		0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132919192	132919192	+	RNA	SNP	G	A	A	rs111295191		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:132919192G>A	uc002tti.3	-	0		c.334C>T			ANKRD30BL_uc002ttj.3_Intron					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						CGTAAGAGTCGTTGTTGGTGT	0.602000														97			6		0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42289365	42289365	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:42289365T>C	uc010czs.3	-	8	1077	c.781A>G	c.(781-783)Aga>Gga	p.R261G	UBTF_uc002igc.3_Missense_Mutation_p.R224G|UBTF_uc002igd.3_Missense_Mutation_p.R224G|UBTF_uc010czt.3_Missense_Mutation_p.R261G|UBTF_uc002ige.2_Missense_Mutation_p.R224G	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	261					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATATAGTCTCTCATGATCTCC	0.607000														52			4		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35161155	35161155	+	Silent	SNP	G	A	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr7:35161155G>A	uc003teq.1	-	13	1659	c.552C>T	c.(550-552)taC>taT	p.Y184Y	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GAGCACAGGTGTATATTAAAG	0.318000														168			5		0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36022638	36022638	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr20:36022638C>T	uc002xgx.3	+	6	960	c.511C>T	c.(511-513)Ccg>Tcg	p.P171S	SRC_uc002xgy.3_Missense_Mutation_p.P171S	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	171	SH2.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	p.P171Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	TGCAGAGAACCCGAGAGGGAC	0.567000														51			3		0	0	1	0	0
CHAC1	79094	broad.mit.edu	37	15	41247647	41247647	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr15:41247647A>G	uc001znh.2	+	2	490	c.470A>G	c.(469-471)gAg>gGg	p.E157G	CHAC1_uc010uct.1_Intron	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 1 (E. coli) (CHAC1), transcript variant 1, mRNA.	157					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AATGTGCGAGAGGCAGTGCTT	0.577000														129			4		0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207008833	207008833	+	Missense_Mutation	SNP	C	G	G	rs137994727		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:207008833C>G	uc010ziq.2	-	9	999	c.938G>C	c.(937-939)cGt>cCt	p.R313P	NDUFS1_uc002vbe.3_Missense_Mutation_p.R299P|NDUFS1_uc010zir.2_Missense_Mutation_p.R263P|NDUFS1_uc010zis.2_Missense_Mutation_p.R242P|NDUFS1_uc010zit.2_Missense_Mutation_p.R188P|NDUFS1_uc010ziu.2_Missense_Mutation_p.R183P	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	299					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	AAGTCTTTGACGTTTTAGCCC	0.368000														23			28		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79164828	79164828	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:79164828T>C	uc002jzp.1	-	22	3031	c.2831A>G	c.(2830-2832)gAg>gGg	p.E944G	AZI1_uc002jzm.1_Missense_Mutation_p.E376G|AZI1_uc002jzn.1_Missense_Mutation_p.E941G|AZI1_uc002jzo.1_Missense_Mutation_p.E905G|AZI1_uc010wum.1_Missense_Mutation_p.E908G|AZI1_uc002jzq.3_Missense_Mutation_p.E92G	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	944					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AAGCTTCCGCTCCGACTGCTC	0.662000														13			3		0	0	1	0	0
CTAGE6P	340307	broad.mit.edu	37	7	143453697	143453697	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr7:143453697A>G	uc003wdk.4	-	0	1147	c.1055T>C	c.(1054-1056)cTt>cCt	p.L352P	FAM115C_uc011ktn.1_Intron|FAM115C_uc011kto.2_Intron|FAM115C_uc011ktp.2_Intron|FAM115C_uc011ktq.1_Intron|FAM115C_uc011ktr.1_Intron|FAM115C_uc011kts.1_Intron|FAM115C_uc003wdj.1_Intron	NM_178561	NP_848656	Q86UF2	CTGE6_HUMAN	Homo sapiens CTAGE family, member 6, pseudogene (CTAGE6P), mRNA.	352						integral to membrane											ATGCTCTGTAAGCTCTTCCTT	0.303000														238			6		0	0	1	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132919171	132919171	+	RNA	SNP	A	G	G	rs148383954	by1000genomes	TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:132919171A>G	uc002tti.3	-	0		c.355T>C			ANKRD30BL_uc002ttj.3_Intron					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						TGAGATCCCCATGGTGAATCA	0.582000														87			5		0	0	1	0	0
DLL3	10683	broad.mit.edu	37	19	39994863	39994863	+	Missense_Mutation	SNP	G	A	A	rs139297205		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:39994863G>A	uc002olx.2	+	4	863	c.805G>A	c.(805-807)Gga>Aga	p.G269R	DLL3_uc010egq.3_Missense_Mutation_p.G269R|DLL3_uc002olw.2_Missense_Mutation_p.G269R	NM_016941	NP_058637	Q9NYJ7	DLL3_HUMAN	Homo sapiens delta-like 3 (Drosophila) (DLL3), transcript variant 1, mRNA.	269					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCTACCACCGGATGCCTTGT	0.642000														74			4		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16383402	16383402	+	Silent	SNP	C	T	T	rs6698427		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:16383402C>T	uc001axx.4	+	19	2191	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	CLCNKA_uc021ogm.1_Silent_p.A516A|CLCNKA_uc001axy.4_Silent_p.A515A	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	685					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATCCGCCAGCCCCAAAGTGAG	0.587000														138			5		0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50626456	50626456	+	Silent	SNP	T	A	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:50626456T>A	uc001wxs.4	-	9	1643	c.1545A>T	c.(1543-1545)gtA>gtT	p.V515V	SOS2_uc010tql.2_Silent_p.V482V|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Silent_p.V203V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	515	PH.				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|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CATCTTTGGATACTAATTCAA	0.343000														170			6		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103576543	103576543	+	Silent	SNP	C	T	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:103576543C>T	uc001ymk.3	+	10	2228	c.2152C>T	c.(2152-2154)Ctg>Ttg	p.L718L		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	718										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CATGGCTGTGCTGATCACCTG	0.692000														29			3		0	0	1	0	0
C8G	733	broad.mit.edu	37	9	139839860	139839860	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr9:139839860G>T	uc004cka.2	+	0	163	c.88G>T	c.(88-90)Gca>Tca	p.A30S	FBXW5_uc010nbx.3_5'Flank|FBXW5_uc004cjx.3_5'Flank|FBXW5_uc004cjy.3_5'Flank|FBXW5_uc004cjz.3_5'Flank	NM_000606	NP_000597	P07360	CO8G_HUMAN	Homo sapiens complement component 8, gamma polypeptide (C8G), mRNA.	30					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex	retinol binding|transporter activity			NS(1)|prostate(1)|skin(1)	3	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.88e-06)|Epithelial(140;0.000107)		ACGCCGGCCCGCATCCCCCAT	0.647000											OREG0019623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			4		0.00024832	0.00024832	1	1	0
MYH7	4625	broad.mit.edu	37	14	23892897	23892897	+	Missense_Mutation	SNP	A	T	T	rs140244068		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr14:23892897A>T	uc001wjx.3	-	23	3064	c.2958T>A	c.(2956-2958)gaT>gaA	p.D986E		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	986					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAATGATCTCATCCAGCCCAG	0.552000														192			6		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2039815	2039815	+	Silent	SNP	G	A	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr9:2039815G>A	uc003zhc.3	+	3	804	c.705G>A	c.(703-705)caG>caA	p.Q235Q	SMARCA2_uc003zhd.3_Silent_p.Q235Q|SMARCA2_uc010mha.3_Silent_p.Q226Q	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	235	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcagcagcaacagcagc	0.587000														49			5		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49051528	49051528	+	Missense_Mutation	SNP	T	G	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr3:49051528T>G	uc003cvj.2	+	1	2789	c.2651T>G	c.(2650-2652)gTt>gGt	p.V884G	WDR6_uc011bbx.1_3'UTR|WDR6_uc011bby.1_Missense_Mutation_p.V332G|WDR6_uc010hkn.2_Missense_Mutation_p.V828G|WDR6_uc011bbz.1_Missense_Mutation_p.V803G	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	854					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CATCGGATGGTTAAGGTAGAC	0.592000											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			8		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105182935	105182935	+	Silent	SNP	T	C	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr7:105182935T>C	uc003vda.1	+	3	585	c.354T>C	c.(352-354)aaT>aaC	p.N118N	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	118					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AATTTCTTAATCAGTTTCTGG	0.378000														105			55		0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26502036	26502036	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr2:26502036A>G	uc002rgz.3	+	8	915	c.664A>G	c.(664-666)Acc>Gcc	p.T222A	HADHB_uc010ykv.2_Missense_Mutation_p.T200A|HADHB_uc010ykw.2_Missense_Mutation_p.T207A|HADHB_uc010ykx.2_Missense_Mutation_p.T148A	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	222					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding	p.E221D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCAGTGAGACCATGGGCCA	0.537000														35			4		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:7578212G>A	uc002gim.2	-	5	831	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)				72			3		0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44980907	44980907	+	Silent	SNP	T	C	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:44980907T>C	uc002ozf.4	-	4	2073	c.1791A>G	c.(1789-1791)agA>agG	p.R597R	ZNF180_uc002ozh.4_Silent_p.R254R|ZNF180_uc002ozi.4_Silent_p.R570R|ZNF180_uc002ozg.4_Silent_p.R596R|ZNF180_uc010ejm.3_Silent_p.R572R	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CAGTATGAGTTCTCTGATGTA	0.418000														145			5		0	0	1	0	0
C1orf213	148898	broad.mit.edu	37	1	23696027	23696028	+	Frame_Shift_Ins	INS	-	T	T	rs147377149		TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:23696027_23696028insT	uc001bgw.3	+	0	564_565	c.237_238insT	c.(235-240)gacttgfs	p.D79fs	ZNF436_uc001bgt.3_5'Flank|ZNF436_uc001bgu.3_5'UTR|C1orf213_uc021oif.1_Intron					Homo sapiens chromosome 1 open reading frame 213 (C1orf213), transcript variant 1, non-coding RNA.											kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AATTCGTAGACTTGCAGGCGAA	0.564													---	18	---	---	30	---					
ODF2L	57489	broad.mit.edu	37	1	86826142	86826142	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr1:86826142delT	uc001dll.2	-	11	1583	c.1221delA	c.(1219-1221)aaafs	p.K407fs	ODF2L_uc001dlp.3_Frame_Shift_Del_p.K407fs|ODF2L_uc010osg.2_Frame_Shift_Del_p.K378fs|ODF2L_uc001dlm.2_Frame_Shift_Del_p.K378fs|ODF2L_uc021opg.1_Frame_Shift_Del_p.K247fs|ODF2L_uc001dlq.2_Frame_Shift_Del_p.K208fs|ODF2L_uc009wcr.2_Frame_Shift_Del_p.K247fs	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	407						centrosome		p.K378fs*22(2)		endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GGGTTTTCTGTTTTTTTTCTA	0.289													---	198	---	---	7	---					
GPD1L	23171	broad.mit.edu	37	3	32169635	32169643	+	In_Frame_Del	DEL	AAGATGTGG	-	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr3:32169635_32169643delAAGATGTGG	uc003cew.3	+	1	316_324	c.115_123delAAGATGTGG	c.(115-123)aagatgtggdel	p.KMW39del		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	39					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	NAD binding|glycerol-3-phosphate dehydrogenase|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						CTCCACAGTCAAGATGTGGGTCTTTGAAG	0.354													---	130	---	---	7	---					
HERC2P2	400322	broad.mit.edu	37	15	23283056	23283064	+	RNA	DEL	CCCGCTCTT	-	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr15:23283056_23283064delCCCGCTCTT	uc001yvq.2	-	11		c.2559_2567delAAGAGCGGG			HERC2P2_uc001yvo.4_Non-coding_Transcript|HERC2P2_uc001yvp.4_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 2 (HERC2P2), non-coding RNA.																		ATCTTCCTGACCCGCTCTTCACAGTCTTC	0.526													---	4	---	---	3	---					
HNF1B	6928	broad.mit.edu	37	17	36099508	36099510	+	In_Frame_Del	DEL	TTG	-	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr17:36099508_36099510delTTG	uc002hok.4	-	1	686_688	c.465_467delCAA	c.(463-468)aacaag>aag	p.N155del	HNF1B_uc010wdi.2_In_Frame_Del_p.N155del|HNF1B_uc021tvv.1_In_Frame_Del_p.N155del|HNF1B_uc021tvw.1_In_Frame_Del_p.N155del	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	155					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			AGGGGTGCCCTTGTTGAGATGCT	0.542													---	41	---	---	76	---					
DYRK1B	9149	broad.mit.edu	37	19	40321175	40321176	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr19:40321175_40321176insC	uc002omj.3	-	3	491_492	c.211_212insG	c.(211-213)gccfs	p.A71fs	DYRK1B_uc002omi.3_Frame_Shift_Ins_p.A71fs|DYRK1B_uc002omk.3_Frame_Shift_Ins_p.A71fs|DYRK1B_uc002oml.3_Frame_Shift_Ins_p.A71fs	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	71					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	p.A71A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CGCCTGCTGGGCCCGCCGCTTC	0.584													---	123	---	---	7	---					
HMGXB4	10042	broad.mit.edu	37	22	35661575	35661576	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-KN-8431-01A-11D-2310-10	TCGA-KN-8431-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	93b51c61-6eea-4228-a102-840a2e118522	3e1c3b30-dc01-472e-b1c3-b81a850659d3	g.chr22:35661575_35661576delAG	uc003anl.3	+	4	1368_1369	c.1194_1195delAG	c.(1192-1197)aaagagfs	p.K398fs	HMGXB4_uc011amh.1_Frame_Shift_Del_p.K289fs|HMGXB4_uc003ank.3_Frame_Shift_Del_p.K289fs	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	398					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						agaaggacaaagagagagagag	0.465													---	50	---	---	7	---					
