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
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373000													4	129					0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46315926	46315926	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr12:46315926C>T	ENST00000465950.1	-	5	4561	c.3352G>A	c.(3352-3354)Gtt>Att	p.V1118I	SCAF11_ENST00000419565.2_Missense_Mutation_p.V1433I|SCAF11_ENST00000369367.3_Missense_Mutation_p.V1433I|SCAF11_ENST00000549162.1_Missense_Mutation_p.V1241I|SCAF11_ENST00000550629.1_Intron			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1433					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TAGGCTTTAACCAGATTTGCC	0.378000													36	68					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40913870	40913870	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr15:40913870T>C	ENST00000346991.5	+	11	1876	c.1486T>C	c.(1486-1488)Tct>Cct	p.S496P	CASC5_ENST00000399668.2_Missense_Mutation_p.S470P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	496	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATGCTATGTCTTCTCTCAC	0.338000													32	35					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48618030	48618030	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:48618030C>G	ENST00000328333.8	-	54	5143	c.5036G>C	c.(5035-5037)gGa>gCa	p.G1679A	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1679A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1679	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCATCCTCTCCAGGATCTCC	0.567000													3	36					0	0	1	0	0
RP11-321N4.5	0	broad.mit.edu	37	6	86324825	86324825	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:86324825A>G	ENST00000503906.1	-	1	127	c.128T>C	c.(127-129)cTc>cCc	p.L43P	SYNCRIP_ENST00000355238.6_Silent_p.A507A|SYNCRIP_ENST00000369622.3_Silent_p.A507A																							CTCTGGATGGAGCAGCACCCC	0.542000													20	73					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542921	14542921	+	Silent	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567000													30	136					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12438636	12438636	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:12438636C>G	ENST00000358136.3	+	56	11202	c.11072C>G	c.(11071-11073)aCt>aGt	p.T3691S	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.T3666S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3690					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCAGTGACTGACAACAGG	0.453000													6	53					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290583	77290583	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr4:77290583C>T	ENST00000388914.3	-	10	1495	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	448										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTGACCTGCCGCTCCATCTG	0.512000													4	37					0	0	1	0	0
MPG	4350	broad.mit.edu	37	16	133122	133122	+	Silent	SNP	G	G	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:133122G>T	ENST00000219431.4	+	4	618	c.387G>T	c.(385-387)ggG>ggT	p.G129G	MPG_ENST00000397817.1_Silent_p.G112G	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	129					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CATACCTGGGGCCAGAGGATG	0.622000								Base excision repair (BER), DNA glycosylases					65	119					1.33661e-31	1.40696e-31	1	1	0
CPO	130749	broad.mit.edu	37	2	207823121	207823121	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:207823121G>A	ENST00000272852.3	+	4	410	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	122					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCAATGGTTCGTCAAAGAAGT	0.428000													21	100					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198267707	198267707	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:198267707A>T	ENST00000335508.5	-	13	1863	c.1772T>A	c.(1771-1773)gTg>gAg	p.V591E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	591					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCGGCCTTCCACTCTAGCATA	0.328000			Mis		myelodysplastic syndrome								19	51					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42586901	42586901	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr8:42586901A>T	ENST00000289957.2	+	5	579	c.451A>T	c.(451-453)Agc>Tgc	p.S151C		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	151					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAGCTACAAAAGCTCCTGCAC	0.532000													17	24					0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024100	14024100	+	Silent	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:14024100C>T	ENST00000318003.7	+	5	739	c.498C>T	c.(496-498)taC>taT	p.Y166Y	CC2D1A_ENST00000589606.1_Silent_p.Y166Y	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	166					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCGGCGCTACGATCGGGGGC	0.607000													10	29					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229794937	229794937	+	Missense_Mutation	SNP	C	C	T	rs114573548	by1000genomes	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:229794937C>T	ENST00000258243.2	+	10	4604	c.4468C>T	c.(4468-4470)Cgg>Tgg	p.R1490W		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1490						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCAGTTCCTGCGGGCCTCGCT	0.493000													4	203					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195395402	195395402	+	RNA	SNP	C	C	A	rs149044725	by1000genomes	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:195395402C>A	ENST00000445430.1	+	0	809																											TACGGGCGCACCTACTTGAGC	0.597000													6	64					0.00307968	0.00307968	1	1	0
LINC00264	0	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													3	39					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65063367	65063367	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:65063367T>C	ENST00000265465.3	+	17	2084	c.1553T>C	c.(1552-1554)aTg>aCg	p.M518T	POLA2_ENST00000534785.1_Intron|POLA2_ENST00000541089.1_Missense_Mutation_p.M310T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	518					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CAAGAAGACATGGCCATTGAC	0.547000													32	80					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178396	65178396	+	Silent	SNP	A	A	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr18:65178396A>C	ENST00000310045.7	-	2	4953	c.3480T>G	c.(3478-3480)tcT>tcG	p.S1160S	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1150						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACTAGCAGGAGACAAAGGAA	0.378000													17	52					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939575	22939575	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:22939575C>T	ENST00000397104.3	-	7	2595	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCACATTCTTCA	0.348000													24	44					0	0	1	0	0
SPAM1	0	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr7:123595133G>A	ENST00000340011.5	+	4	1394	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338000													44	79					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167322149	167322149	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:167322149A>G	ENST00000308378.3	-	2	348	c.43T>C	c.(43-45)Tcc>Ccc	p.S15P	WDR49_ENST00000453925.2_Missense_Mutation_p.S68P|WDR49_ENST00000479765.1_Missense_Mutation_p.S356P	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	15										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATGTTGAAGGATGTCATATTA	0.378000													20	37					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	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|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								27	65					0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	101017533	101017533	+	Missense_Mutation	SNP	A	A	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr9:101017533A>C	ENST00000375066.5	-	1	382	c.291T>G	c.(289-291)agT>agG	p.S97R	TBC1D2_ENST00000342112.5_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.S97R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	97	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAACACTGCACTGGAGAGGT	0.522000													25	57					0	0	1	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46919111	46919111	+	Silent	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:46919111G>A	ENST00000258947.3	+	2	143	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CALCOCO2_ENST00000509507.1_Silent_p.L14L|CALCOCO2_ENST00000508679.1_Intron|CALCOCO2_ENST00000416445.2_Silent_p.L14L|CALCOCO2_ENST00000448105.2_Silent_p.L14L	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	14					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAGCTGTCTTGCTGGATCACT	0.468000													12	34					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682000													12	19					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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	13					0	0	1	0	0
SLC12A3	0	broad.mit.edu	37	16	56921912	56921912	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:56921912G>A	ENST00000438926.2	+	18	2283	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	SLC12A3_ENST00000566786.1_Missense_Mutation_p.A751T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A752T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A751T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	752					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGCTCACCCGGCCACAGTGGA	0.577000													3	48					0	0	1	0	0
PSMB3	5691	broad.mit.edu	37	17	36912146	36912146	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:36912146C>T	ENST00000225426.4	+	3	290	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	67					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						TGCCCAGCGCCTCAAGTTCCG	0.473000													5	40					0	0	1	0	0
LDHC	3948	broad.mit.edu	37	11	18456322	18456322	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:18456322G>A	ENST00000541669.1	+	5	565	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	LDHC_ENST00000537486.1_Intron|LDHC_ENST00000536880.1_Missense_Mutation_p.G138S|LDHC_ENST00000546146.1_Missense_Mutation_p.G94S|LDHC_ENST00000535809.1_Missense_Mutation_p.G152S|LDHC_ENST00000544105.1_Missense_Mutation_p.G152S|LDHC_ENST00000280704.4_Missense_Mutation_p.G152S			P07864	LDHC_HUMAN	lactate dehydrogenase C	152					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	GAAGATAAGTGGCTTACCTGT	0.353000													34	115					0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112009	44112009	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:44112009T>C	ENST00000361807.3	+	5	712	c.518T>C	c.(517-519)cTt>cCt	p.L173P	ZNF485_ENST00000374435.3_Missense_Mutation_p.L173P|ZNF485_ENST00000374437.2_Missense_Mutation_p.L82P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTTCATCCCTTTTAAATCAC	0.388000													3	89					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195395399	195395399	+	RNA	SNP	G	G	A	rs62287990	by1000genomes	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:195395399G>A	ENST00000445430.1	+	0	806																											GGCTACGGGCGCACCTACTTG	0.607000													6	60					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108335404	108335404	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:108335404A>G	ENST00000361582.3	+	5	505	c.275A>G	c.(274-276)aAc>aGc	p.N92S	DZIP3_ENST00000463306.1_Missense_Mutation_p.N92S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	92					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCAGCTAACAGCCAGAAT	0.353000													30	94					0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18197327	18197327	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:18197327G>A	ENST00000388870.2	+	11	1250	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	KDM1B_ENST00000297792.5_Missense_Mutation_p.V205I|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000397244.1_Missense_Mutation_p.V205I			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	337	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCACATCATCGTCCGGGGTCT	0.413000													44	81					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18846121	18846121	+	RNA	SNP	C	C	T	rs4302302		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617000													3	25					0	0	1	0	0
EDEM3	80267	broad.mit.edu	37	1	184692991	184692991	+	Splice_Site	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:184692991C>T	ENST00000318130.8	-	8	1014		c.e8-1		EDEM3_ENST00000367512.3_Splice_Site	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCATATTCCTGTAATTTaa	0.328000													21	58					0	0	1	0	0
PCDHA6	0	broad.mit.edu	37	5	140207760	140207760	+	Silent	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr5:140207760C>T	ENST00000529310.1	+	1	198	c.84C>T	c.(82-84)agC>agT	p.S28S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S28S|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.632000													51	75					0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552000													32	110					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													7	75	---	---	---	---					
CTD-2049J23.2	0	broad.mit.edu	37	3	159820697	159820698	+	RNA	INS	-	-	A	rs145340132	by1000genomes	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:159820697_159820698insA	ENST00000497452.1	-	0	517																											TTGGAacagtgaaaaaaaaaag	0.277													2	4	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccc>cc	p.PC159del		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACAGGCCCctgctgctgctgc	0.665													7	136	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31973481	31973483	+	RNA	DEL	CTG	CTG	-			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:31973481_31973483delCTG	ENST00000342991.6	+	0	69_71					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										gctcctgggcctgctgctgctgc	0.660													3	3	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gcc>gc	p.AA339del	ZNF395_ENST00000523202.1_In_Frame_Del_p.AA339del|ZNF395_ENST00000523095.1_In_Frame_Del_p.AA339del	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													7	122	---	---	---	---