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
HNRNPU	3192	broad.mit.edu	37	1	245022136	245022136	+	Silent	SNP	T	C	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:245022136T>C	uc001iaz.1	-	5	1343	c.1125A>G	c.(1123-1125)gaA>gaG	p.E375E	HNRNPU_uc001iay.1_Silent_p.E99E|HNRNPU_uc001iba.1_Silent_p.E356E	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	375	B30.2/SPRY.				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			AAGAAAATTCTTCTTCACCTA	0.289000														131			4		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46998903	46998903	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:46998903C>T	uc001jec.3	+	2	158	c.23C>T	c.(22-24)cCg>cTg	p.P8L	GPRIN2_uc021ppt.1_Missense_Mutation_p.P8L	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	8										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CGCCCCGAGCCGGGTCCCTGG	0.642000														52			16		0	0	1	0	0
DAZL	1618	broad.mit.edu	37	3	16638275	16638275	+	Silent	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:16638275A>G	uc003cba.3	-	5	828	c.540T>C	c.(538-540)ccT>ccC	p.P180P	DAZL_uc003cbb.3_Silent_p.P160P	NM_001190811	NP_001177740	Q92904	DAZL_HUMAN	Homo sapiens deleted in azoospermia-like (DAZL), transcript variant 1, mRNA.	160	DAZ-like.				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding|translation activator activity		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						ACTGAGTTATAGGATTCATCG	0.383000														108			4		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80504195	80504195	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:80504195A>G	uc003kha.2	+	21	3144	c.3094A>G	c.(3094-3096)Atg>Gtg	p.M1032V	RNU5E-1_uc011cto.1_Intron|RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	1032	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCAGGGGTGGATGAAGCTGGA	0.413000														35			3		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18879483	18879483	+	Silent	SNP	C	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:18879483C>T	uc010ebv.3	+	10	1336	c.1248C>T	c.(1246-1248)ccC>ccT	p.P416P	CRTC1_uc002nkb.4_Silent_p.P400P|CRTC1_uc010ebw.3_Silent_p.P265P	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	400					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCTGTTGCCCAGCGCCAGCC	0.756000														48			4		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420878	105420878	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:105420878G>T	uc010axc.1	-	6	1030	c.910C>A	c.(910-912)Ctc>Atc	p.L304I	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.L204I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	304						nucleus		p.L304I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCGTGAGCTGGGCCTCT	0.652000														76			7		1.76689e-08	1.76689e-08	1	1	0
PTPRA	5786	broad.mit.edu	37	20	2998555	2998555	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:2998555A>G	uc010zqd.2	+	11	1387	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R	PTPRA_uc002whj.3_Missense_Mutation_p.K346R|PTPRA_uc002whk.3_Missense_Mutation_p.K337R|PTPRA_uc002whl.3_Missense_Mutation_p.K337R|PTPRA_uc002whm.3_Missense_Mutation_p.K113R|PTPRA_uc002whn.3_Missense_Mutation_p.K337R|PTPRA_uc002who.3_Missense_Mutation_p.K9R	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	346	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGAGAGAAAGGAGGTAAGT	0.453000														54			4		0	0	1	0	0
DNAH14	127602	broad.mit.edu	37	1	225477667	225477667	+	Silent	SNP	T	C	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr1:225477667T>C	uc001how.2	+	52	8288	c.8073T>C	c.(8071-8073)ccT>ccC	p.P2691P	DNAH14_uc001hox.2_Non-coding_Transcript	NM_001373	NP_001364	Q0VDD8	DYH14_HUMAN	Homo sapiens dynein, axonemal, heavy chain 14 (DNAH14), transcript variant 1, mRNA.	2038					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ACCGAGTGCCTATATCTCACA	0.378000														108			4		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957478	35957478	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr5:35957478A>T	uc003jjv.2	-	4	1080	c.887T>A	c.(886-888)gTc>gAc	p.V296D	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.V296D|UGT3A1_uc011cor.2_Missense_Mutation_p.V262D	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	296						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCCACAAGGACAAACCCTGC	0.493000														44			14		0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12244276	12244276	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:12244276A>G	uc002mtg.2	-	7	1307	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZNF20_uc002mte.2_Missense_Mutation_p.L207P|ZNF20_uc002mtf.2_Missense_Mutation_p.L242P|ZNF20_uc021upm.1_Missense_Mutation_p.L239P	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						ATGTACTGGAAGGGTAGTGGA	0.378000														202			5		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156745919	156745919	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr3:156745919A>G	uc021xgh.1	+	11	1510	c.1396A>G	c.(1396-1398)Aga>Gga	p.R466G	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGGCGCTACAAGAGATCTAAG	0.343000														122			4		0	0	1	0	0
ENTHD1	150350	broad.mit.edu	37	22	40161248	40161248	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr22:40161248A>T	uc003ayg.3	-	5	1450	c.1199T>A	c.(1198-1200)aTc>aAc	p.I400N		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	400								p.I400N(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TGTCTTGAGGATTTTATCATC	0.418000														29			3		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126396466	126396466	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:126396466C>T	uc001qea.3	-	2	611	c.250G>A	c.(250-252)Ggc>Agc	p.G84S	KIRREL3_uc001qeb.3_Missense_Mutation_p.G84S|KIRREL3_uc001qec.1_Missense_Mutation_p.G84S	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	84	Ig-like C2-type 1.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGAGCCAAGCCGTCCTTGATC	0.617000														74			3		0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15172216	15172216	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr10:15172216C>T	uc001inz.1	-	6	899	c.815G>A	c.(814-816)aGa>aAa	p.R272K	NMT2_uc001ioa.1_Missense_Mutation_p.R259K|NMT2_uc010qbz.1_Missense_Mutation_p.R84K	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	272					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CAGGTTCACTCTTCTAGTGAT	0.468000														69			4		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678605	37678605	+	Silent	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr13:37678605A>G	uc001uwm.1	-	0	1197	c.789T>C	c.(787-789)tgT>tgC	p.C263C		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	263	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCAGCCCACGACAGTAGTTCA	0.428000														105			4		0	0	1	0	0
MLH3	27030	broad.mit.edu	37	14	75513814	75513814	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr14:75513814T>C	uc001xrd.1	-	1	2761	c.2545A>G	c.(2545-2547)Agt>Ggt	p.S849G	MLH3_uc001xre.1_Missense_Mutation_p.S849G|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	849					mismatch repair|reciprocal meiotic recombination	MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GTCATAGGACTTTCTCTCAAA	0.403000								Mismatch excision repair (MMR)						223			5		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125620200	125620200	+	Splice_Site	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr9:125620200A>G	uc010mwc.1	-	13	2695	c.2454_splice	c.e13+1	p.D818_splice	RC3H2_uc004bnc.2_Splice_Site|RC3H2_uc004bnd.1_Splice_Site_p.D818_splice|RC3H2_uc004bne.4_Splice_Site_p.D818_splice	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	818						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AACCTTTCTTACATCCGCACG	0.423000														111			4		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143718278	143718278	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr2:143718278T>C	uc010fnm.3	+	8	884	c.668T>C	c.(667-669)gTg>gCg	p.V223A	KYNU_uc002tvk.3_Missense_Mutation_p.V223A|KYNU_uc002tvl.3_Missense_Mutation_p.V223A	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	223					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TTCAGTGGGGTGCATTTTTAC	0.428000														60			4		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3234985	3234985	+	Silent	SNP	C	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr4:3234985C>G	uc021xkv.1	+	60	8506	c.8361C>G	c.(8359-8361)ctC>ctG	p.L2787L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2787					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACGGCGTCCTCTATGTGCTGG	0.642000														115			4		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72129213	72129213	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr8:72129213C>T	uc003xyu.3	-	12	1826	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R	EYA1_uc003xyt.4_Missense_Mutation_p.G363R|EYA1_uc003xyr.4_Missense_Mutation_p.G361R|EYA1_uc010lzf.3_Missense_Mutation_p.G323R|EYA1_uc003xys.4_Missense_Mutation_p.G396R|EYA1_uc011lfe.2_Missense_Mutation_p.G390R|EYA1_uc003xyv.3_Missense_Mutation_p.G274R	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	396					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGGTCCTGTCCGTTATCATCT	0.338000														187			4		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853382	2853382	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr19:2853382G>A	uc002lwo.3	+	3	1457	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	ZNF555_uc002lwn.4_Missense_Mutation_p.R439Q	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATATCTTTACGAAAACATATG	0.453000														65			3		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr17:7577566T>C	uc002gim.2	-	6	909	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_uc002gig.1_Missense_Mutation_p.N239D|TP53_uc002gih.3_Missense_Mutation_p.N239D|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.N107D|TP53_uc010cnf.1_Missense_Mutation_p.N107D|TP53_uc002gii.1_Missense_Mutation_p.N107D|TP53_uc010cni.1_Missense_Mutation_p.N239D|TP53_uc010cnh.1_Missense_Mutation_p.N239D|TP53_uc002gij.2_Missense_Mutation_p.N239D|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.N146D|TP53_uc002gio.2_Missense_Mutation_p.N107D|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N239D(66)|p.C238Y(57)|p.C238F(36)|p.N239fs*25(25)|p.N239S(22)|p.C238S(19)|p.C238R(14)|p.N239Y(12)|p.N239fs*1(8)|p.0?(8)|p.N239K(7)|p.N239_C242delNSSC(6)|p.M237_N239delMCN(6)|p.?(5)|p.N239fs*8(4)|p.C238*(4)|p.N239T(4)|p.N239_S240delNS(4)|p.N239_S240insX(2)|p.N239fs*26(2)|p.Y236_M243delYMCNSSCM(2)|p.N239fs*6(2)|p.N239fs*4(2)|p.C238_N239insX(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238G(2)|p.C238fs*21(2)|p.N239*(2)|p.H233_C242del10(2)|p.C238del(2)|p.N239_C242del(2)|p.N146D(1)|p.N146fs*1(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.N239fs*?(1)|p.C238fs*9(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.N239_C242>S(1)|p.N239_S240insN(1)|p.M237_C238insX(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)		CAGGAACTGTTACACATGTAG	0.572000		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)				24			35		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42052530	42052530	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr15:42052530A>G	uc010ucy.2	+	19	7382	c.7201A>G	c.(7201-7203)Att>Gtt	p.I2401V	MGA_uc010ucz.2_Missense_Mutation_p.I2192V|MGA_uc010uda.1_Missense_Mutation_p.I1017V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2362	Helix-loop-helix motif.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCTCCACCAATTCCTCTAAA	0.463000														75			5		0	0	1	0	0
UPP1	7378	broad.mit.edu	37	7	48147910	48147911	+	Frame_Shift_Ins	INS	-	GGCT	GGCT			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr7:48147910_48147911insGGCT	uc003toj.3	+	9	1418_1419	c.889_890insGGCT	c.(889-891)cggfs	p.R297fs	UPP1_uc003tok.3_Frame_Shift_Ins_p.R297fs|UPP1_uc003tol.3_Frame_Shift_Ins_p.R297fs|UPP1_uc011kch.2_Frame_Shift_Ins_p.R90fs|UPP1_uc003ton.3_Frame_Shift_Ins_p.R160fs	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	297					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity	p.R297Q(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GAGGCCGCAGCGGCTGGTGAGC	0.594													---	29	---	---	26	---					
MUC2	4583	broad.mit.edu	37	11	1092849	1092849	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr11:1092849delG	uc001lsx.1	+	30	4695	c.4668delG	c.(4666-4668)cagfs	p.Q1556fs		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1556	Approximate repeats.					inner mucus layer|outer mucus layer	protein binding	p.G1555D(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGGCACACAGACCCCAACAA	0.632													---	75	---	---	8	---					
SYCP2	10388	broad.mit.edu	37	20	58452519	58452519	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8423-01A-11D-2310-10	TCGA-KN-8423-11A-01D-2310-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07943d6c-20fe-4b85-9c02-3b7eab4069c1	09835591-2837-4694-87b2-df002105d3e7	g.chr20:58452519delT	uc002yaz.3	-	31	3210	c.3071delA	c.(3070-3072)aacfs	p.N1024fs		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1024					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.N1024fs*3(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATCTTTATAGTTTTTTTTTGT	0.328													---	81	---	---	10	---					
