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
NBPF22P	285622	broad.mit.edu	37	5	85592143	85592143	+	RNA	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:85592143G>A	ENST00000590707.1	+	0	1442					NR_003719.2																						GTCACAAAAAGCAGCTTTTCC	0.383000													6	7					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186113447	186113447	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:186113447G>A	ENST00000271588.4	+	90	14296	c.14067G>A	c.(14065-14067)atG>atA	p.M4689I	HMCN1_ENST00000367492.2_Missense_Mutation_p.M4689I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4689	TSP type-1 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAACACAGATGCAAGTTTGCA	0.388000													35	128					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63221442	63221442	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr17:63221442G>A	ENST00000449996.3	+	18	1793	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	RGS9_ENST00000443584.3_Missense_Mutation_p.R574H|RGS9_ENST00000262406.9_Missense_Mutation_p.R577H	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	577				P -> L (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	p.R577H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCTAAGGCCCGCATGGCTCTG	0.682000													4	201					0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769882	50769882	+	Silent	SNP	C	C	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr20:50769882C>A	ENST00000216923.4	-	6	1198	c.849G>T	c.(847-849)ggG>ggT	p.G283G	ZFP64_ENST00000371515.4_Silent_p.G281G|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000346617.4_Silent_p.G229G|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGGCTTCTCCCCCGAGTGCA	0.547000													15	52					0.000308642	0.000316764	1	1	0
CETP	1071	broad.mit.edu	37	16	57007305	57007305	+	Silent	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr16:57007305G>A	ENST00000200676.3	+	9	943	c.813G>A	c.(811-813)ctG>ctA	p.L271L	CETP_ENST00000566128.1_Silent_p.L206L|CETP_ENST00000379780.2_Intron	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	271					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CGCCCACACTGCTGGGGGACT	0.597000													30	36					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132446058	132446058	+	Silent	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:132446058C>T	ENST00000333577.4	+	2	1003	c.894C>T	c.(892-894)ccC>ccT	p.P298P	EP400_ENST00000332482.4_Silent_p.P298P|EP400_ENST00000389561.2_Silent_p.P298P|EP400_ENST00000389562.2_Silent_p.P298P|EP400_ENST00000330386.6_Silent_p.P298P			Q96L91	EP400_HUMAN	E1A binding protein p400	298					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGAGGACACCCGGCGTGCTGC	0.726000													3	9					0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150407062	150407062	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:150407062G>T	ENST00000388825.4	+	4	521	c.429G>T	c.(427-429)gaG>gaT	p.E143D	GPX3_ENST00000517973.1_Missense_Mutation_p.R92I	NM_002084.3	NP_002075.2	P22352	GPX3_HUMAN	glutathione peroxidase 3 (plasma)	143					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TCAATGGAGAGAAAGAGCAGA	0.537000													10	134					7.48243e-07	7.99492e-07	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44891069	44891069	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:44891069G>C	ENST00000330997.4	-	4	1402	c.1338C>G	c.(1336-1338)caC>caG	p.H446Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.H446Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.H453Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGACTCTCTGGTGAATGTGAA	0.473000													17	71					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74987886	74987886	+	Missense_Mutation	SNP	G	G	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:74987886G>T	ENST00000420843.2	-	10	870	c.773C>A	c.(772-774)gCt>gAt	p.A258D	ARRB1_ENST00000360025.3_Missense_Mutation_p.A258D|ARRB1_ENST00000393505.4_Missense_Mutation_p.A258D	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	258					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CACTTACTCAGCCTCTTCCAT	0.537000													7	37					0.00307968	0.00311967	1	1	0
ARHGAP26	23092	broad.mit.edu	37	5	142311682	142311682	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:142311682C>T	ENST00000378004.3	+	11	1454	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.R367W	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	367	PH.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATGGATGGCCGGGAACCTGT	0.498000													25	89					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	22					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88227948	88227948	+	Missense_Mutation	SNP	C	C	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:88227948C>A	ENST00000369536.5	-	17	1495	c.1450G>T	c.(1450-1452)Gac>Tac	p.D484Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	484					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GTGTTGAAGTCATTCAGGTAC	0.383000													27	100					1.1804e-14	1.27876e-14	1	1	0
RFX7	64864	broad.mit.edu	37	15	56386717	56386717	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr15:56386717C>T	ENST00000423270.1	-	9	3208	c.3209G>A	c.(3208-3210)aGt>aAt	p.S1070N	RFX7_ENST00000317318.6_Missense_Mutation_p.S1070N|RFX7_ENST00000559447.2_Missense_Mutation_p.S973N|RFX7_ENST00000422057.1_Missense_Mutation_p.S973N	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	973					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCAACCCCACTATACCCATT	0.473000													27	73					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58095017	58095017	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr3:58095017G>A	ENST00000357272.4	+	14	2332	c.2167G>A	c.(2167-2169)Gga>Aga	p.G723R	FLNB_ENST00000358537.3_Missense_Mutation_p.G723R|FLNB_ENST00000429972.2_Missense_Mutation_p.G723R|FLNB_ENST00000348383.5_Missense_Mutation_p.G723R|FLNB_ENST00000419752.2_Missense_Mutation_p.G554R|FLNB_ENST00000295956.4_Missense_Mutation_p.G723R|FLNB_ENST00000493452.1_Missense_Mutation_p.G554R|FLNB_ENST00000490882.1_Missense_Mutation_p.G723R			O75369	FLNB_HUMAN	filamin B, beta	723					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGTGGTCTGGGGAGGCGTGAA	0.547000													6	18					0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34725168	34725168	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr21:34725168T>A	ENST00000270139.3	+	9	1400	c.1248T>A	c.(1246-1248)aaT>aaA	p.N416K	IFNAR1_ENST00000416947.2_Missense_Mutation_p.N347K|IFNAR1_ENST00000442357.2_Intron	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	416	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AAAAGCTGAATAAAAGCAGTG	0.323000													15	61					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198260869	198260869	+	Silent	SNP	C	C	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr2:198260869C>A	ENST00000335508.5	-	23	3541	c.3450G>T	c.(3448-3450)tcG>tcT	p.S1150S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1150					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)			AGAAGGAAAGCGATTTTAACA	0.363000			Mis		myelodysplastic syndrome								9	119					1.58986e-06	1.6758e-06	1	1	0
LDB2	9079	broad.mit.edu	37	4	16510221	16510221	+	Silent	SNP	T	T	C			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr4:16510221T>C	ENST00000502640.1	-	7	976	c.828A>G	c.(826-828)gcA>gcG	p.A276A	LDB2_ENST00000503178.2_Silent_p.A152A|LDB2_ENST00000441778.2_Silent_p.A276A|LDB2_ENST00000304523.5_Silent_p.A276A|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Silent_p.A276A			O43679	LDB2_HUMAN	LIM domain binding 2	276							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CAGTGCTGTTTGCATTGTTCC	0.498000													6	88					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201330409	201330409	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:201330409C>T	ENST00000509001.1	-	14	1064	c.778G>A	c.(778-780)Gag>Aag	p.E260K	TNNT2_ENST00000367320.2_Missense_Mutation_p.E227K|TNNT2_ENST00000367322.1_Missense_Mutation_p.E257K|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000360372.4_Missense_Mutation_p.E255K|TNNT2_ENST00000458432.2_Missense_Mutation_p.E269K|TNNT2_ENST00000236918.7_Missense_Mutation_p.E265K|TNNT2_ENST00000421663.2_Missense_Mutation_p.E263K|TNNT2_ENST00000367315.2_Missense_Mutation_p.E257K|TNNT2_ENST00000367317.4_Missense_Mutation_p.E260K|TNNT2_ENST00000367318.5_Missense_Mutation_p.E260K	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	270					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CGGCCCACCTCATATTTCTGC	0.582000											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	385					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642776	1642776	+	Missense_Mutation	SNP	T	T	C			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:1642776T>C	ENST00000399682.1	-	1	592	c.548A>G	c.(547-549)tAc>tGc	p.Y183C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	243	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGGCAGCAGTAGGGCTTGCA	0.617000													5	304					0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44620838	44620838	+	Splice_Site	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:44620838G>A	ENST00000457408.2	-	4	440	c.387_splice	c.e4-1	p.R130_splice	TMED4_ENST00000289577.5_Intron|TMED4_ENST00000444131.2_5'UTR|TMED4_ENST00000481238.1_Splice_Site_p.R130_splice	NM_182547.2	NP_872353.2	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	130	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						AGATGCACCCGCTACAAGGAA	0.547000													8	71					0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44261973	44261973	+	Silent	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr18:44261973C>T	ENST00000315087.7	-	6	1284	c.624G>A	c.(622-624)acG>acA	p.T208T	ST8SIA5_ENST00000536490.1_Silent_p.T177T|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Silent_p.T244T	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	208					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						TGACCACATCCGTCTTCACCC	0.532000													5	26					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs145439557	by1000genomes	TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr17:43587576A>G	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							tctgaaaagaaaagaaaaaaa	0.428000													3	37					0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58152383	58152383	+	Silent	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:58152383C>T	ENST00000266643.5	+	4	1175	c.744C>T	c.(742-744)atC>atT	p.I248I	MARCH9_ENST00000548358.1_Silent_p.I135I	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	248						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCTACCGCATCTTCAAGCGCT	0.517000													7	18					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823365	97823365	+	Silent	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:97823365C>T	ENST00000297293.5	+	11	3881	c.3588C>T	c.(3586-3588)gaC>gaT	p.D1196D		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1196					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGGAAGACGAGGCCAGCA	0.597000													6	67					0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358470	178358470	+	Missense_Mutation	SNP	A	A	C			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:178358470A>C	ENST00000361362.2	+	5	686	c.156A>C	c.(154-156)gaA>gaC	p.E52D	ZFP2_ENST00000523286.1_Missense_Mutation_p.E52D|ZFP2_ENST00000503510.2_Missense_Mutation_p.E52D|ZFP2_ENST00000520301.1_Missense_Mutation_p.E52D	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		ATGAATTTGAAAGATGTTCCA	0.418000													16	68					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972720	92972720	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr8:92972720G>A	ENST00000523629.1	-	12	2019	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.A533V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.A495V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.A485V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.A522V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.A485V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.A485V|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.A495V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	522					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GGTTTCACTCGCTTTACGGCC	0.463000													12	36					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23519918	23519918	+	Silent	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:23519918C>T	ENST00000374619.1	-	1	1304	c.795G>A	c.(793-795)tcG>tcA	p.S265S	HTR1D_ENST00000314113.3_Silent_p.S265S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	265			S -> L (in dbSNP:rs6299).		G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAGCCGAGTGCGAGTGCCCCT	0.582000													30	101					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369323	22369323	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr15:22369323G>A	ENST00000332663.2	+	1	846	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TACCATTGTGGTGCTAATGTT	0.443000													20	358					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597557	247597557	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:247597557G>A	ENST00000366497.2	+	6	3260	c.2480G>A	c.(2479-2481)tGc>tAc	p.C827Y	NLRP3_ENST00000348069.2_Missense_Mutation_p.C770Y|NLRP3_ENST00000336119.3_Missense_Mutation_p.C827Y|NLRP3_ENST00000391828.3_Missense_Mutation_p.C827Y|NLRP3_ENST00000366496.2_Missense_Mutation_p.C827Y|NLRP3_ENST00000391827.2_Missense_Mutation_p.C770Y	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	884					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACCTGTTGTGCAATCTGAAG	0.592000													40	91					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103194107	103194107	+	Splice_Site	SNP	G	G	A	rs149473868	byFrequency	TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:103194107G>A	ENST00000424685.2	-	39	6128	c.5969_splice	c.e39+1	p.P1990_splice	RELN_ENST00000343529.5_Splice_Site_p.P1990_splice|RELN_ENST00000428762.1_Splice_Site_p.P1990_splice			P78509	RELN_HUMAN	reelin	1990					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAATACTTACGGTGCCCCCTT	0.373000													7	26					0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94972193	94972193	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:94972193A>G	ENST00000261226.4	-	3	1239	c.1108T>C	c.(1108-1110)Tac>Cac	p.Y370H	TMCC3_ENST00000551457.1_Missense_Mutation_p.Y339H	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	370						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GAGCGCTCGTAGGCCTGGTAG	0.542000													15	36					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642784	1642784	+	Silent	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:1642784G>A	ENST00000399682.1	-	1	584	c.540C>T	c.(538-540)tgC>tgT	p.C180C		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	240	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGTAGGGCTTGCAGCAGCTGG	0.607000													5	315					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:51947198G>A	ENST00000371117.3	-	4	548	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_ENST00000340994.4_Silent_p.C91C	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	91	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C91C(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478000													4	198					0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86333749	86333749	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:86333749T>A	ENST00000355238.6	-	7	954	c.748A>T	c.(748-750)Att>Ttt	p.I250F	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.I250F	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	250	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CTCTTAGGAATAGAGCCCACA	0.358000													11	38					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10574494	10574494	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:10574494C>T	ENST00000380702.2	+	15	1703	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V	PDE4A_ENST00000440014.2_Missense_Mutation_p.A529V|PDE4A_ENST00000592685.1_Missense_Mutation_p.A568V|PDE4A_ENST00000352831.6_Missense_Mutation_p.A590V|PDE4A_ENST00000293683.5_Missense_Mutation_p.A564V|PDE4A_ENST00000344979.3_Missense_Mutation_p.A351V			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	590	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GTGCACTGTGCCGACCTCAGC	0.617000													4	102					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156492	111156492	+	Missense_Mutation	SNP	G	G	C			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:111156492G>C	ENST00000280325.4	+	4	571	c.424G>C	c.(424-426)Ggg>Cgg	p.G142R		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	142										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GCTTGAGTCCGGGAGCATCGC	0.642000													28	45					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42409386	42409386	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:42409386G>A	ENST00000599846.1	+	25	2602	c.2477G>A	c.(2476-2478)cGc>cAc	p.R826H	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R737H|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R785H|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R752H|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R770H			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	770					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCTGCCTCTCGCCCTAAGCCC	0.667000													21	48					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95112392	95112392	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr13:95112392C>T	ENST00000377028.5	-	6	1545	c.1132G>A	c.(1132-1134)Ggg>Agg	p.G378R	DCT_ENST00000446125.1_Missense_Mutation_p.G378R	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	378					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GCGTTTGTCCCGTTCAGGAAG	0.398000													10	40					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110099808	110099808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr8:110099808G>T	ENST00000518632.1	+	2	418	c.67G>T	c.(67-69)Gaa>Taa	p.E23*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.E23*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	23						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGTGGCCTTAGAATACCAGGT	0.458000													23	52					3.83957e-06	3.99315e-06	1	1	0
ADAMTS14	140766	broad.mit.edu	37	10	72517740	72517740	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr10:72517740G>A	ENST00000373208.1	+	20	2969	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G987D	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	987	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGTGGAGAGGGCATCCAGCAG	0.652000													4	73					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													4	117					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5811300	5811300	+	Missense_Mutation	SNP	T	T	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chrX:5811300T>A	ENST00000381095.3	-	6	2636	c.2009A>T	c.(2008-2010)gAt>gTt	p.D670V	NLGN4X_ENST00000275857.6_Missense_Mutation_p.D670V|NLGN4X_ENST00000381092.1_Missense_Mutation_p.D670V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.D670V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.D690V	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	670					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GGTGGAATAATCTCGTTTGGT	0.498000													66	51					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20893144	20893144	+	Silent	SNP	A	A	G			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr12:20893144A>G	ENST00000381552.1	+	12	1943	c.1575A>G	c.(1573-1575)ggA>ggG	p.G525G	SLCO1C1_ENST00000266509.2_Silent_p.G525G|SLCO1C1_ENST00000540354.1_Silent_p.G476G|SLCO1C1_ENST00000545102.1_Silent_p.G407G|SLCO1C1_ENST00000545604.1_Silent_p.G525G			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	525	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTTGTGTGGGAATTGCAGCTT	0.343000													7	88					0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1588285	1588285	+	Silent	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr7:1588285G>A	ENST00000297477.5	-	7	1000	c.684C>T	c.(682-684)aaC>aaT	p.N228N		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	228						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		TGACGGAGGCGTTGTAGATGA	0.632000													24	45					0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	28017757	28017757	+	Silent	SNP	A	A	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr8:28017757A>T	ENST00000256398.8	+	13	1646	c.1269A>T	c.(1267-1269)gtA>gtT	p.V423V	ELP3_ENST00000542181.1_Silent_p.V294V|ELP3_ENST00000380353.4_Silent_p.V331V|ELP3_ENST00000537665.1_Silent_p.V304V|ELP3_ENST00000521015.1_Silent_p.V409V|ELP3_ENST00000524103.1_Silent_p.V351V	NM_018091.5	NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	423	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		TTGAATTGGTAAGGAGAGATT	0.313000													13	34					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117266568	117266568	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr9:117266568C>T	ENST00000362057.3	-	1	682	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	DFNB31_ENST00000374057.3_Missense_Mutation_p.E172K|DFNB31_ENST00000480518.1_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	172	PDZ 1.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCCTGGTTCCACCAGAGAC	0.662000													30	112					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984755	41984755	+	Missense_Mutation	SNP	G	G	A	rs143365042		TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr4:41984755G>A	ENST00000333141.5	+	1	1043	c.946G>A	c.(946-948)Gcc>Acc	p.A316T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	316										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAATGAGTCCGCCTATCTGCC	0.552000													23	53					0	0	1	0	0
EEF2K	29904	broad.mit.edu	37	16	22260092	22260092	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr16:22260092G>A	ENST00000263026.5	+	4	838	c.364G>A	c.(364-366)Ggg>Agg	p.G122R		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	122	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CGCCGTCACCGGGGAATGGCT	0.567000													17	39					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152552704	152552704	+	Splice_Site	SNP	T	T	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:152552704T>A	ENST00000367255.5	-	114	21464		c.e114-2		SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000341594.5_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTAAAACCCTAAAAAAAAAG	0.338000										HNSCC(10;0.0054)			3	29					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244125	56244125	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:56244125C>A	ENST00000332836.2	-	2	1099	c.1072G>T	c.(1072-1074)Gaa>Taa	p.E358*		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	358	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GAGTTTATTTCAAGGTCTTCT	0.438000													22	123					8.04996e-18	8.84362e-18	1	1	0
SYNC	81493	broad.mit.edu	37	1	33149861	33149861	+	Silent	SNP	A	A	G			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:33149861A>G	ENST00000373484.3	-	3	1455	c.1356T>C	c.(1354-1356)taT>taC	p.Y452Y	SYNC_ENST00000409190.3_Silent_p.Y452Y|RBBP4_ENST00000373493.5_3'UTR	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAACTGACTTATAAGTAGAGA	0.428000													101	280					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74467882	74467882	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr17:74467882G>A	ENST00000591885.1	-	19	2867	c.2317C>T	c.(2317-2319)Cgg>Tgg	p.R773W	RHBDF2_ENST00000313080.4_Missense_Mutation_p.R802W|RHBDF2_ENST00000389760.4_Missense_Mutation_p.R773W			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	802					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						ATGAGTGCCCGCTTGCGGTAC	0.617000													6	16					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262784	45262784	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:45262784C>T	ENST00000164227.5	+	9	1521	c.1277C>T	c.(1276-1278)cCa>cTa	p.P426L		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	426	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTTCCTTCCCCATCTCCACCC	0.682000			T	IGH@	CLL								79	199					0	0	1	0	0
TRMT13	54482	broad.mit.edu	37	1	100613819	100613819	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:100613819A>G	ENST00000370141.2	+	10	1193	c.1187A>G	c.(1186-1188)gAt>gGt	p.D396G		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		CAGAATGATGATAGTGAAGAG	0.408000													37	123					0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50854550	50854550	+	Silent	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr22:50854550G>A	ENST00000359139.3	+	6	976	c.582G>A	c.(580-582)agG>agA	p.R194R	PPP6R2_ENST00000216061.5_Silent_p.R194R|PPP6R2_ENST00000395741.3_Silent_p.R194R|PPP6R2_ENST00000395744.3_Silent_p.R194R	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	194						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCATCCAGAGGCTTGTGGAGT	0.517000													23	47					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145157835	145157835	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr2:145157835C>T	ENST00000558170.2	-	8	2103	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	ZEB2_ENST00000539609.3_Missense_Mutation_p.E283K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E307K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E307K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	307						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TAAGGTTTTTCACCTAAAATG	0.363000													5	25					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135163671	135163671	+	Silent	SNP	A	A	G			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr9:135163671A>G	ENST00000372169.2	-	17	6458	c.6276T>C	c.(6274-6276)gaT>gaC	p.D2092D	SETX_ENST00000393220.1_Silent_p.D2092D|SETX_ENST00000224140.5_Silent_p.D2092D			Q7Z333	SETX_HUMAN	senataxin	2092					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGGAAAGCTCATCCAGCTGAT	0.363000													9	48					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132198250	132198250	+	Silent	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:132198250C>T	ENST00000360971.2	+	18	1862	c.1842C>T	c.(1840-1842)tgC>tgT	p.C614C		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	614					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGTACAGTGCCCCTTCACAA	0.468000													3	23					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178994548	178994548	+	Missense_Mutation	SNP	A	A	G			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:178994548A>G	ENST00000377001.2	+	4	689	c.689A>G	c.(688-690)aAt>aGt	p.N230S	RUFY1_ENST00000437570.2_Missense_Mutation_p.N122S|RUFY1_ENST00000319449.4_Missense_Mutation_p.N230S|RUFY1_ENST00000393438.2_Missense_Mutation_p.N122S			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	230	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTATAGACAATAAACATCTC	0.413000										HNSCC(44;0.11)			10	43					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49168484	49168484	+	Missense_Mutation	SNP	C	C	T			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr11:49168484C>T	ENST00000340334.7	-	20	2400	c.2032G>A	c.(2032-2034)Gct>Act	p.A678T	FOLH1_ENST00000343844.4_Missense_Mutation_p.A385T|FOLH1_ENST00000256999.2_Missense_Mutation_p.A693T|FOLH1_ENST00000533034.1_Missense_Mutation_p.A647T|FOLH1_ENST00000356696.3_Missense_Mutation_p.A662T	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	693					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGCTTGGAGCATAGATGACA	0.438000													26	92					0	0	1	0	0
HPDL	84842	broad.mit.edu	37	1	45793539	45793539	+	Missense_Mutation	SNP	G	G	A			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr1:45793539G>A	ENST00000334815.3	+	1	995	c.719G>A	c.(718-720)cGa>cAa	p.R240Q		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	240					aromatic amino acid family metabolic process		4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCGACGACACGACAGGACCAG	0.652000													38	131					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162358035	162358035	+	RNA	DEL	C	C	-			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr2:162358035delC	ENST00000605990.1	+	0	344																											CTTTGACTTTCAGTCTTTTTT	0.373													8	72	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													3	4	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													3	5	---	---	---	---					
CTD-2184D3.5	0	broad.mit.edu	37	15	52388055	52388056	+	RNA	DEL	AG	AG	-	rs58524153		TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr15:52388055_52388056delAG	ENST00000558607.1	-	0	54																											aacattaaacagagttaccatg	0.332													2	4	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372913	74372914	+	RNA	DEL	TG	TG	-	rs67181940		TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr16:74372913_74372914delTG	ENST00000429810.2	-	0	1404																											TAACGTAGtttgtttttttttt	0.436													3	3	---	---	---	---					
PVRL2	5819	broad.mit.edu	37	19	45381598	45381600	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DQ-7590-01A-11D-2229-08	TCGA-DQ-7590-10D-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cbcfa67-f062-4a03-84ad-dabfbcf14514	1165b9b5-0a5a-44e2-8bff-74e98cdb9d99	g.chr19:45381598_45381600delGAG	ENST00000252485.4	+	6	1512_1514	c.1161_1163delGAG	c.(1159-1164)gtg>gt	p.VR387del	PVRL2_ENST00000252483.5_Intron	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	384					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGCTgagggtgaggaggaggagg	0.665													2	4	---	---	---	---					
