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
FBXO44	93611	broad.mit.edu	37	1	11716011	11716011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:11716011T>C	uc010oar.2	+	1	245	c.119T>C	c.(118-120)cTc>cCc	p.L40P	FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.2_5'UTR|FBXO44_uc001asm.3_Missense_Mutation_p.L40P|FBXO44_uc001asl.3_Missense_Mutation_p.L40P|FBXO44_uc001asn.3_Missense_Mutation_p.L40P	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	40	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGACCTCATCGACCTC	0.632												
NFIA	4774	broad.mit.edu	37	1	61869812	61869812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:61869812C>T	uc010oos.2	+	8	1329	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	NFIA_uc001czy.3_Missense_Mutation_p.P363L|NFIA_uc001czw.3_Missense_Mutation_p.P371L|NFIA_uc001czv.3_Missense_Mutation_p.P371L|NFIA_uc001czx.3_Missense_Mutation_p.P19L|NFIA_uc009wae.3_5'Flank	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	371					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTTCATTTCCCGACATCACCC	0.493												
LRRC8C	84230	broad.mit.edu	37	1	90178321	90178321	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:90178321C>A	uc001dnl.4	+	2	434	c.192C>A	c.(190-192)aaC>aaA	p.N64K		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	64						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGCTCAGAACCACTCTTCCC	0.433												
FLG	2312	broad.mit.edu	37	1	152287099	152287099	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:152287099G>T	uc001ezu.1	-	2	299	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	AK056431_uc001ezv.3_Splice_Site	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	88					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGGTAGACTCATAATA	0.358									Ichthyosis			
PBXIP1	57326	broad.mit.edu	37	1	154918742	154918742	+	Silent	SNP	T	T	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:154918742T>G	uc001ffr.3	-	9	1467	c.1408A>C	c.(1408-1410)Agg>Cgg	p.R470R	PBXIP1_uc001ffs.3_Silent_p.R441R|PBXIP1_uc010pep.2_Silent_p.R315R	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	470					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACTCCCTAGAATTCTGG	0.567												
SPTA1	6708	broad.mit.edu	37	1	158615169	158615169	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:158615169G>A	uc001fst.1	-	28	4202	c.4003C>T	c.(4003-4005)Cgt>Tgt	p.R1335C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1335					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1335G(4)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTCAGCACGGTGCTCCTGT	0.488												
DCAF8	50717	broad.mit.edu	37	1	160250017	160250017	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:160250017C>T	uc010pjc.1	-	3	445	c.173G>A	c.(172-174)aGt>aAt	p.S58N	DCAF8_uc001fvs.2_Missense_Mutation_p.S205N|DCAF8_uc021pbq.1_Missense_Mutation_p.S205N|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.S115N	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	142						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCCGATGACTCTGCAACCA	0.418												
PAPPA2	60676	broad.mit.edu	37	1	176563773	176563773	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:176563773G>A	uc001gkz.3	+	2	2197	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	345					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTCTGCACCGACCGCGTGAA	0.592												
ABL2	27	broad.mit.edu	37	1	179090932	179090932	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:179090932T>C	uc001gmj.4	-	4	1045	c.758A>G	c.(757-759)gAt>gGt	p.D253G	ABL2_uc010pnf.2_Missense_Mutation_p.D253G|ABL2_uc010png.2_Missense_Mutation_p.D232G|ABL2_uc010pnh.2_Missense_Mutation_p.D232G|ABL2_uc009wxe.3_Missense_Mutation_p.D232G|ABL2_uc001gmg.4_Missense_Mutation_p.D238G|ABL2_uc001gmi.4_Missense_Mutation_p.D238G|ABL2_uc010pne.2_Missense_Mutation_p.D217G|ABL2_uc001gmk.3_Missense_Mutation_p.D217G|ABL2_uc009wxf.2_Missense_Mutation_p.D238G	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	253	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCAGCCCATCAGCCACTGT	0.498			T	ETV6	AML							
IL10	3586	broad.mit.edu	37	1	206942020	206942020	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:206942020G>A	uc001hen.1	-	4	557	c.498C>T	c.(496-498)aaC>aaT	p.N166N		NM_000572	NP_000563	P22301	IL10_HUMAN	Homo sapiens interleukin 10 (IL10), mRNA.	166					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTTCTATGTAGTTGATGAAGA	0.413												
CD46	4179	broad.mit.edu	37	1	207930974	207930974	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207930974A>G	uc001hgc.3	+	2	551	c.376A>G	c.(376-378)Att>Gtt	p.I126V	CD46_uc001hgg.3_Missense_Mutation_p.I126V|CD46_uc001hgh.3_Missense_Mutation_p.I126V|CD46_uc001hgi.3_Missense_Mutation_p.I126V|CD46_uc001hgj.3_Missense_Mutation_p.I126V|CD46_uc001hgm.3_Missense_Mutation_p.I126V|CD46_uc001hgl.3_Missense_Mutation_p.I126V|CD46_uc001hgp.3_Missense_Mutation_p.I126V	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	126	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATGCACTTTATTTGTAATGA	0.363												
CD46	4179	broad.mit.edu	37	1	207934671	207934671	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207934671G>T	uc001hgc.3	+	4	728	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CD46_uc001hgg.3_Missense_Mutation_p.D185Y|CD46_uc001hgh.3_Missense_Mutation_p.D185Y|CD46_uc001hgi.3_Missense_Mutation_p.D185Y|CD46_uc001hgj.3_Missense_Mutation_p.D185Y|CD46_uc001hgm.3_Missense_Mutation_p.D185Y|CD46_uc001hgl.3_Missense_Mutation_p.D185Y|CD46_uc001hgp.3_Missense_Mutation_p.D185Y	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	185	Sushi 3.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.D185G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGAGTATCTTGATGCAGTAAC	0.373												
SVIL	6840	broad.mit.edu	37	10	29776136	29776136	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:29776136A>G	uc001iut.1	-	23	5194	c.4441T>C	c.(4441-4443)Ttc>Ctc	p.F1481L	LOC387647_uc001iuq.1_Non-coding_Transcript|SVIL_uc010qdw.1_Missense_Mutation_p.F395L|SVIL_uc001iuu.1_Missense_Mutation_p.F1055L|SVIL_uc009xlc.2_Missense_Mutation_p.F273L	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1481	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCCACAGGAAGCAGCAGTGG	0.517												
C10orf71	118461	broad.mit.edu	37	10	50532018	50532018	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:50532018C>T	uc021pqb.1	+	0	1428	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_uc021pqa.1_Silent_p.N475N|C10orf71_uc021pqc.1_Silent_p.N476N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572												
PTEN	5728	broad.mit.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
MICAL2	9645	broad.mit.edu	37	11	12244171	12244171	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:12244171C>A	uc001mjz.3	+	10	1618	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.3_Missense_Mutation_p.L444I|MICAL2_uc010rci.2_Missense_Mutation_p.L444I|MICAL2_uc001mkb.3_Missense_Mutation_p.L444I|MICAL2_uc001mkc.3_Missense_Mutation_p.L444I|MICAL2_uc001mkd.3_Missense_Mutation_p.L273I|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	444						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGGAAAGTCTCTACCGGCT	0.567												
OR5M10	390167	broad.mit.edu	37	11	56344526	56344526	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:56344526C>T	uc001niz.1	-	0	672	c.672G>A	c.(670-672)gcG>gcA	p.A224A	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCTGAAGATCGCTGCAAAAA	0.443												
SLC22A10	387775	broad.mit.edu	37	11	63072232	63072232	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:63072232C>T	uc009yor.3	+	8	1677	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	490						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGACCTTAACGGTATTTTTT	0.423												
GRM5	2915	broad.mit.edu	37	11	88242179	88242179	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:88242179C>G	uc001pcq.3	-	8	3420	c.3220G>C	c.(3220-3222)Gag>Cag	p.E1074Q	GRM5_uc009yvm.3_Missense_Mutation_p.E1042Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	1074					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGTTGAGCTCGCTGATGTTG	0.667												
MAML2	84441	broad.mit.edu	37	11	96075000	96075000	+	Silent	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:96075000C>G	uc001pfw.1	-	0	1345	c.60G>C	c.(58-60)gcG>gcC	p.A20A		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	20					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAGGAGCCCCGCCCCAGAGG	0.682			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PGR	5241	broad.mit.edu	37	11	100996783	100996783	+	Missense_Mutation	SNP	G	G	A	rs144880156		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:100996783G>A	uc001pgh.2	-	1	2487	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	582					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCACAGGTAAGGACACCATAA	0.443												
ELMOD1	55531	broad.mit.edu	37	11	107501263	107501263	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:107501263G>A	uc010rvs.2	+	2	542	c.138G>A	c.(136-138)ccG>ccA	p.P46P	ELMOD1_uc001pjm.3_Silent_p.P46P|ELMOD1_uc010rvt.2_Silent_p.P40P	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	46					phagocytosis	cytoskeleton	GTPase activator activity	p.K45N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATACCAAGCCGGGAGCTTCTA	0.398												
C11orf65	160140	broad.mit.edu	37	11	108302504	108302504	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:108302504C>T	uc001pkh.3	-	2	213	c.143G>A	c.(142-144)cGt>cAt	p.R48H	C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CACTATCTGACGTGGTTCTCC	0.303												
NTF3	4908	broad.mit.edu	37	12	5603799	5603799	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:5603799C>T	uc001qnl.4	+	0	502	c.419C>T	c.(418-420)gCg>gTg	p.A140V	NTF3_uc001qnk.4_Missense_Mutation_p.A153V	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	140					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AAACGGTACGCGGAGCATAAG	0.602												
GPR162	10536	broad.mit.edu	37	12	6946946	6946946	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:6946946T>A	uc001qra.1	+	12	1793	c.1759T>A	c.(1759-1761)Tgc>Agc	p.C587S	GPR162_uc001qrb.1_Missense_Mutation_p.C395S|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CGCAGACAACTGCGTCCTGGA	0.642												
CCDC91	55297	broad.mit.edu	37	12	28459762	28459762	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:28459762G>A	uc001riq.3	+	3	369	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CCDC91_uc001rio.3_Missense_Mutation_p.V89M|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc009zjl.3_5'UTR	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	119					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATTGCCCTTGTGGATGATTC	0.358												
SP7	121340	broad.mit.edu	37	12	53722081	53722081	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:53722081C>G	uc001sct.3	-	1	1252	c.1145G>C	c.(1144-1146)gGt>gCt	p.G382A	SP7_uc001scv.3_Missense_Mutation_p.G382A|SP7_uc001scu.3_Missense_Mutation_p.G364A	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGAGGGGGACCCGGGCCTGG	0.672											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KSR2	283455	broad.mit.edu	37	12	117977618	117977618	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:117977618C>T	uc001two.2	-	9	1561	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	531					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGCTGGCGAGGAGGGCG	0.627												
FLT1	2321	broad.mit.edu	37	13	28971149	28971149	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:28971149T>C	uc001usb.3	-	11	1893	c.1608A>G	c.(1606-1608)atA>atG	p.I536M	FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.I19M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	536	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATTGGAAGCTATGCAAATGT	0.413												
BRCA2	675	broad.mit.edu	37	13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	rs80359052	by1000genomes	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:32937431G>A	uc001uub.1	+	17	8319	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2698					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2697fs*31(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)		
RB1	5925	broad.mit.edu	37	13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	rs3092891		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
IPO5	3843	broad.mit.edu	37	13	98641352	98641352	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:98641352A>T	uc001vne.3	+	6	635	c.455A>T	c.(454-456)aAg>aTg	p.K152M	IPO5_uc001vnf.1_Missense_Mutation_p.K134M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	134					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGGTTTGAAGTTCCTTTTT	0.383												
SLC22A17	51310	broad.mit.edu	37	14	23820969	23820969	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:23820969G>A	uc001wjl.3	-	1	600	c.363C>T	c.(361-363)ccC>ccT	p.P121P	SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Silent_p.P121P|SLC22A17_uc001wjn.3_Intron|SLC22A17_uc010akl.1_Silent_p.P121P	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	121					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCTGTCTGCGGGGTAACCCA	0.617												
FSCB	84075	broad.mit.edu	37	14	44975096	44975096	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:44975096A>G	uc001wvn.3	-	0	1404	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	365	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCAGAATTTCAGCAGGAGGCT	0.493												
PCNX	22990	broad.mit.edu	37	14	71444226	71444226	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:71444226G>A	uc001xmo.2	+	5	1618	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	PCNX_uc001xmn.4_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	391						integral to membrane		p.R391P(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAACGGACCGGGACACTAAC	0.498												
ESRRB	2103	broad.mit.edu	37	14	76964704	76964704	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:76964704C>T	uc001xsr.3	+	8	1576	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T402M	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	402						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGCGGCAGACGGCCGCCAAG	0.627												
BCL11B	64919	broad.mit.edu	37	14	99640778	99640778	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:99640778C>T	uc001yga.3	-	3	2662	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	BCL11B_uc001ygb.3_Missense_Mutation_p.E728K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	799						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGTACTCGCACGTGTCG	0.721			T	TLX3	T-ALL							
FAM82A2	55177	broad.mit.edu	37	15	41046948	41046948	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41046948C>T	uc001zmp.1	-	1	219	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	FAM82A2_uc001zmo.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	12					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CCCAGCCCGGCACGGGCACCA	0.687												
SPINT1	6692	broad.mit.edu	37	15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	rs145193299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592												
TP53BP1	7158	broad.mit.edu	37	15	43748820	43748820	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:43748820C>T	uc001zrs.3	-	11	2119	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	TP53BP1_uc010udp.2_Silent_p.E657E|TP53BP1_uc001zrq.4_Silent_p.E662E|TP53BP1_uc001zrr.4_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	657					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAGACCCCTCCTCTGGAT	0.483								Other conserved DNA damage response genes				
ADAMTS18	170692	broad.mit.edu	37	16	77401546	77401546	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr16:77401546G>T	uc002ffc.4	-	3	989	c.570C>A	c.(568-570)aaC>aaA	p.N190K	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	190					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGAGCTGTAGTTGTGTTCCT	0.502												
OR1E2	8388	broad.mit.edu	37	17	3336801	3336801	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3336801C>T	uc010vre.2	-	0	335	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	112					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AAGGAGGAAGCTCTCTAGATC	0.522												
TRPV1	7442	broad.mit.edu	37	17	3486725	3486725	+	Splice_Site	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3486725C>G	uc010vro.2	-	9	1450	c.1417_splice	c.e9-1	p.P473_splice	TRPV1_uc010vrp.2_Splice_Site_p.P402_splice|TRPV1_uc010vrq.2_Splice_Site_p.P460_splice|TRPV1_uc010vrr.2_Splice_Site_p.P462_splice|TRPV1_uc010vrs.2_Splice_Site_p.P462_splice|TRPV1_uc010vrt.2_Splice_Site_p.P462_splice|TRPV1_uc010vru.2_Splice_Site_p.P462_splice	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	462					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAAAGGGAGGCTGTGAGATGC	0.473												
PLXDC1	57125	broad.mit.edu	37	17	37295949	37295949	+	Silent	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:37295949G>T	uc002hrg.2	-	1	425	c.213C>A	c.(211-213)acC>acA	p.T71T	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	71					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATGGCCAGGGTGCCCCCAC	0.672												
KRT13	3860	broad.mit.edu	37	17	39661434	39661434	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:39661434G>A	uc002hwu.1	-	0	432	c.369C>T	c.(367-369)cgC>cgT	p.R123R	KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc010wfr.2_Silent_p.R16R|KRT13_uc010cxo.3_Silent_p.R123R|KRT13_uc021txk.1_Silent_p.R16R	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	123	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTCCAGGGCGCGCACCTTCT	0.597												
HLF	3131	broad.mit.edu	37	17	53398080	53398080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:53398080G>A	uc002iug.1	+	3	1253	c.728G>A	c.(727-729)cGc>cAc	p.R243H	HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	243					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547			T	TCF3	ALL							
TLK2	11011	broad.mit.edu	37	17	60679467	60679467	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:60679467G>A	uc010ddp.3	+	19	2119	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	TLK2_uc002izx.4_Silent_p.S443S|TLK2_uc002izz.4_Silent_p.S595S|TLK2_uc002jaa.4_Silent_p.S563S|TLK2_uc010wpd.2_Silent_p.S563S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	617	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGTCTTTCGAAGATCATGG	0.383												
ABCA10	10349	broad.mit.edu	37	17	67181653	67181653	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:67181653G>A	uc010dfa.1	-	20	3341	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	821					transport	integral to membrane	ATP binding|ATPase activity	p.K820N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTAAGAGGCGTCTTCGGGAT	0.363												
P4HB	5034	broad.mit.edu	37	17	79804920	79804920	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:79804920A>C	uc002kbn.1	-	5	955	c.758T>G	c.(757-759)aTc>aGc	p.I253S	P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	253					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTGAGTCTTGATTTCACCTCC	0.468												
LAMA3	3909	broad.mit.edu	37	18	21492813	21492813	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr18:21492813A>G	uc002kuq.3	+	55	7383	c.7297A>G	c.(7297-7299)Aat>Gat	p.N2433D	LAMA3_uc002kur.3_Missense_Mutation_p.N2377D|LAMA3_uc002kus.4_Missense_Mutation_p.N824D|LAMA3_uc002kut.4_Missense_Mutation_p.N768D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2433	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTACTGAGAATATGTTTGT	0.398												
CATSPERD	257062	broad.mit.edu	37	19	5748191	5748191	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:5748191C>T	uc002mda.3	+	9	890	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	CATSPERD_uc010duj.1_5'UTR	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	277						integral to membrane											CGACACCGTCCGGGTGAAAAA	0.542												
CATSPERG	57828	broad.mit.edu	37	19	38851477	38851477	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:38851477G>A	uc002oih.4	+	15	1961	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	CATSPERG_uc002oig.4_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.4_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	625					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.T625T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GACTTGGAGCGGAAAGGGTGA	0.572												
ZNF780A	284323	broad.mit.edu	37	19	40580618	40580618	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:40580618T>C	uc010xvh.2	-	5	1882	c.1734A>G	c.(1732-1734)aaA>aaG	p.K578K	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.K577K|ZNF780A_uc002omz.3_Silent_p.K577K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388												
PPFIA3	8541	broad.mit.edu	37	19	49633717	49633717	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:49633717C>G	uc002pmr.3	+	6	1072	c.740C>G	c.(739-741)gCc>gGc	p.A247G	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.A115G	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	247						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGGCAGCGCGCCGAGGTGTGC	0.692												
ZNF544	27300	broad.mit.edu	37	19	58772416	58772416	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:58772416G>C	uc010euo.3	+	6	918	c.444G>C	c.(442-444)gaG>gaC	p.E148D	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.E120D|ZNF544_uc010yhy.2_Missense_Mutation_p.E120D|ZNF544_uc002qrt.4_Missense_Mutation_p.E6D|ZNF544_uc002qru.4_Missense_Mutation_p.E6D|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCACCTCAGAGAGACTGTTTG	0.448												
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:113940279C>T	uc002tjc.3	+	1	429	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622												
MGAT5	4249	broad.mit.edu	37	2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:135107438C>T	uc002ttw.4	+	8	1320	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413												
XIRP2	129446	broad.mit.edu	37	2	168107813	168107813	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:168107813G>A	uc002udx.3	+	8	10000	c.9911G>A	c.(9910-9912)cGc>cAc	p.R3304H	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.3_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3129					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGCCTCCTCGCCTGTCAGAG	0.438												
LRP2	4036	broad.mit.edu	37	2	170134318	170134318	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:170134318C>T	uc002ues.3	-	12	1922	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	570					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R570H(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAGTAAACACGCTTCGATAT	0.408												
TTN	7273	broad.mit.edu	37	2	179399105	179399108	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179399105_179399108delTCTT	uc021vsy.1	-	306	94755_94758	c.94530_94533delAAGA	c.(94528-94533)gaaagafs	p.E31510fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.E25205fs|TTN_uc021vta.1_Frame_Shift_Del_p.E25138fs|TTN_uc021vtb.1_Frame_Shift_Del_p.E25013fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32437	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTACTGACTCTTTCTATCTTCT	0.461												
TTN	7273	broad.mit.edu	37	2	179544077	179544077	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179544077G>A	uc021vsy.1	-	138	30224	c.29999C>T	c.(29998-30000)cCg>cTg	p.P10000L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10927	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGCTGGCGGAGGCTTCTC	0.413												
SDPR	8436	broad.mit.edu	37	2	192711596	192711596	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:192711596C>T	uc002utb.3	-	0	411	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	19						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTTTCCTGCCGCATGTCAGA	0.607												
NGEF	25791	broad.mit.edu	37	2	233744299	233744299	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:233744299G>T	uc002vts.2	-	14	2281	c.2033C>A	c.(2032-2034)tCc>tAc	p.S678Y	NGEF_uc010zmm.1_Missense_Mutation_p.S401Y|NGEF_uc010fyg.1_Missense_Mutation_p.S586Y	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	678					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R677Q(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGTTCTGGGACCGGATCTT	0.582												
MYH7B	57644	broad.mit.edu	37	20	33586908	33586908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:33586908G>A	uc002xbi.2	+	35	4683	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1414						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGTGGAGGCTGCCAACGCCAA	0.607												
SALL4	57167	broad.mit.edu	37	20	50407987	50407987	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:50407987C>T	uc002xwh.4	-	1	1136	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	SALL4_uc010gii.3_Silent_p.Q345Q|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	345					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAGGGCTCTGGAAGAGCA	0.632												
COL20A1	57642	broad.mit.edu	37	20	61942767	61942767	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:61942767C>T	uc011aau.2	+	11	1515	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	COL20A1_uc011aav.2_Missense_Mutation_p.A293V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	472	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity	p.R471L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCGCCCCGGGCGCTGACCCTG	0.687												
CCT8L2	150160	broad.mit.edu	37	22	17072541	17072541	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:17072541G>A	uc002zlp.1	-	0	1160	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	300					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGGTCTCCTCGTCGACCTCCC	0.493												
PARVG	64098	broad.mit.edu	37	22	44586519	44586519	+	Silent	SNP	C	C	T	rs3842780	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:44586519C>T	uc011aqe.2	+	6	901	c.477C>T	c.(475-477)aaC>aaT	p.N159N	PARVG_uc003bep.3_Silent_p.N159N|PARVG_uc011aqf.2_Silent_p.N159N|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	159					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCCAACCAACGTCCAGGTGG	0.602												
PPARG	5468	broad.mit.edu	37	3	12447429	12447429	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:12447429C>T	uc003bwx.3	+	4	759	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PPARG_uc003bwr.3_Missense_Mutation_p.A195V|PPARG_uc003bws.3_Missense_Mutation_p.A195V|PPARG_uc003bwu.3_Missense_Mutation_p.A195V|PPARG_uc003bwv.3_Missense_Mutation_p.A195V|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	223	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.A223A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGCTGTTGGCGGAGATCTCC	0.512			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""					
C3orf72	401089	broad.mit.edu	37	3	138669148	138669148	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:138669148C>T	uc003esx.1	+	2	393	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	88										large_intestine(1)|lung(3)	4						GCCCGCGCCTCGGGCTTCCGG	0.692												
SUCNR1	56670	broad.mit.edu	37	3	151598459	151598459	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:151598459T>C	uc003ezf.2	+	2	233	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	43						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAAATACCATTGTTGTTTAC	0.433												
ZNF732	654254	broad.mit.edu	37	4	266352	266352	+	Silent	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:266352A>G	uc021xka.1	-	3	294	c.294T>C	c.(292-294)ctT>ctC	p.L98L	ZNF732_uc011buu.1_Silent_p.L66L	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTCTTAATATAAGTTTGTGGA	0.328												
WDR19	57728	broad.mit.edu	37	4	39267694	39267694	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:39267694C>T	uc003gtv.3	+	28	3349	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	WDR19_uc011byi.2_Silent_p.A905A|WDR19_uc003gtw.1_Silent_p.A662A	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1065					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGGTCAGGCCAAAGATGAAC	0.473												
GUCY1B3	2983	broad.mit.edu	37	4	156721201	156721201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:156721201G>T	uc003ipc.3	+	8	1317	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	GUCY1B3_uc011cio.2_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.2_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.3_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.2_Nonsense_Mutation_p.E312*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	384					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.L383L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGAGCCCTGGAAGATGAAAA	0.393												
KIAA0947	23379	broad.mit.edu	37	5	5464090	5464090	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:5464090C>G	uc003jdm.4	+	12	4865	c.4643C>G	c.(4642-4644)cCa>cGa	p.P1548R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1548										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACTAGAGCCATCTGGCAAA	0.358												
BDP1	55814	broad.mit.edu	37	5	70806902	70806902	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:70806902C>A	uc003kbp.1	+	16	4246	c.3983C>A	c.(3982-3984)aCc>aAc	p.T1328N	BDP1_uc003kbn.1_Missense_Mutation_p.T1328N|BDP1_uc003kbo.3_Missense_Mutation_p.T1328N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1328					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGACCAGTACCTCAAGACAA	0.408												
SV2C	22987	broad.mit.edu	37	5	75428010	75428010	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:75428010C>T	uc003kei.1	+	1	569	c.435C>T	c.(433-435)tgC>tgT	p.C145C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	145					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537												
FAM81B	153643	broad.mit.edu	37	5	94749868	94749868	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:94749868G>A	uc003kla.1	+	3	557	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	171										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CACCAGCATCGTCAAAAAACT	0.418												
PCDHAC2	56147	broad.mit.edu	37	5	140166149	140166149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:140166149C>T	uc003lhb.2	+	0	274	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	PCDHAC2_uc003lha.2_Missense_Mutation_p.R92C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92C	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	107	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATCGATCGCGAGGAGCT	0.567												
MED7	9443	broad.mit.edu	37	5	156565766	156565766	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:156565766A>G	uc010jik.3	-	1	1069	c.677T>C	c.(676-678)aTt>aCt	p.I226T	MED7_uc003lwm.4_Missense_Mutation_p.I226T|MED7_uc021ygl.1_Missense_Mutation_p.I226T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	226					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTCATCAATTAGGACACA	0.323												
ADAMTS2	9509	broad.mit.edu	37	5	178581109	178581109	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:178581109G>A	uc003mjw.3	-	7	1425	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ADAMTS2_uc011dgm.2_Silent_p.A441A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	441	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGGAAGGCGGCCTGCACCA	0.711												
MUT	4594	broad.mit.edu	37	6	49419405	49419405	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:49419405C>T	uc003ozg.4	-	5	1371	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	369			R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGCAGTACGGACAATATT	0.348												
ZNF451	26036	broad.mit.edu	37	6	56963890	56963890	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:56963890T>C	uc003pdm.1	+	2	361	c.137T>C	c.(136-138)aTt>aCt	p.I46T	ZNF451_uc003pdl.3_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.2_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.3_Non-coding_Transcript|ZNF451_uc003pdp.3_5'Flank	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGAATACATTGATCTGGTC	0.338												
SIM1	6492	broad.mit.edu	37	6	100896122	100896122	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:100896122C>T	uc003pqj.4	-	6	1217	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SIM1_uc021zdg.1_Silent_p.A250A|SIM1_uc010kcu.3_Silent_p.A250A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	250	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCGTCAGCTCCGCCACCCTGA	0.627												
AIM1	202	broad.mit.edu	37	6	107008787	107008787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:107008787C>T	uc003prh.3	+	16	5653	c.4741C>T	c.(4741-4743)Cga>Tga	p.R1581*	AIM1_uc003pri.3_Nonsense_Mutation_p.R385*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1581	Beta/gamma crystallin 'Greek key' 12.						sugar binding	p.R1581Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTTCTCTACGACCTTTTGT	0.378												
HECA	51696	broad.mit.edu	37	6	139488187	139488187	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:139488187G>A	uc003qin.3	+	1	1323	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	346					respiratory tube development			p.R346W(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCTTCGGCGGCTGGACCTCT	0.597												
SNX9	51429	broad.mit.edu	37	6	158357061	158357061	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:158357061G>T	uc003qqv.1	+	13	1605	c.1432G>T	c.(1432-1434)Gtg>Ttg	p.V478L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	478	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.V478V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGCCAGTCTCGTGGCAGAACA	0.348												
STK31	56164	broad.mit.edu	37	7	23827708	23827708	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:23827708A>G	uc003sws.4	+	20	2664	c.2597A>G	c.(2596-2598)gAa>gGa	p.E866G	STK31_uc003swt.4_Missense_Mutation_p.E843G|STK31_uc011jze.2_Missense_Mutation_p.E866G|STK31_uc010kuq.3_Missense_Mutation_p.E843G|STK31_uc003swv.1_Missense_Mutation_p.E32G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	866	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAACCGTGAACAAGGAATT	0.353												
C7orf10	79783	broad.mit.edu	37	7	40356417	40356417	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:40356417G>A	uc022acd.1	+	8	824	c.800G>A	c.(799-801)cGt>cAt	p.R267H	C7orf10_uc003thn.2_Missense_Mutation_p.R267H|C7orf10_uc003tho.2_Missense_Mutation_p.R219H	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	267							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGCAAAACGTTGGGGTACA	0.388												
MUC17	140453	broad.mit.edu	37	7	100679249	100679249	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:100679249A>G	uc003uxp.1	+	2	4605	c.4552A>G	c.(4552-4554)Agt>Ggt	p.S1518G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1518	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCATTAACAAGTATACCTGT	0.483												
KCNU1	157855	broad.mit.edu	37	8	36768588	36768588	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:36768588C>T	uc010lvw.3	+	21	2559	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	824						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTCACCATCGGATCCTTGC	0.512												
ST18	9705	broad.mit.edu	37	8	53085003	53085003	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:53085003C>T	uc003xqz.2	-	4	574	c.418G>A	c.(418-420)Gta>Ata	p.V140I	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V105I|ST18_uc011lds.1_Missense_Mutation_p.V45I|ST18_uc003xra.2_Missense_Mutation_p.V140I|ST18_uc003xrb.2_Missense_Mutation_p.V140I	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	140						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAACAGATACATTTTTTTCA	0.383												
NSMAF	8439	broad.mit.edu	37	8	59548070	59548070	+	Missense_Mutation	SNP	G	G	A	rs35436008		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:59548070G>A	uc011lee.2	-	2	339	c.278C>T	c.(277-279)tCg>tTg	p.S93L	NSMAF_uc003xtt.3_Missense_Mutation_p.S62L	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	62					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAAAATCACCGATTTTGAACA	0.323												
SLCO5A1	81796	broad.mit.edu	37	8	70744273	70744273	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:70744273G>A	uc003xyl.3	-	1	1343	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SLCO5A1_uc010lzb.3_Silent_p.F212F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F212F|SLCO5A1_uc010lzc.2_Silent_p.F212F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	transporter activity	p.L211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGGTAAGGCGAAGAGGGCTG	0.662												
ASAP1	50807	broad.mit.edu	37	8	131414154	131414154	+	Silent	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:131414154C>A	uc003yta.2	-	1	264	c.36G>T	c.(34-36)tcG>tcT	p.S12S	ASAP1_uc011liw.2_5'UTR	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	12					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.F11L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATCTCTCGACGAAAAACTGG	0.502												
SLC45A4	57210	broad.mit.edu	37	8	142231734	142231734	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:142231734G>A	uc003ywd.1	-	1	527	c.219C>T	c.(217-219)ctC>ctT	p.L73L	SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	124					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCAGAGGGCGAGGATGAAGG	0.612												
LRRC14	9684	broad.mit.edu	37	8	145746502	145746502	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:145746502G>C	uc003zdk.2	+	3	1296	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	LRRC14_uc003zdl.2_Missense_Mutation_p.E374D	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	374										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCTGACTGAGTGTCAGCTCG	0.597												
GDA	9615	broad.mit.edu	37	9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:74863239C>T	uc004air.3	+	13	1555	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_uc011lse.2_Missense_Mutation_p.P375L|GDA_uc004aiq.3_Missense_Mutation_p.P449L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375L|GDA_uc004ais.3_Missense_Mutation_p.P371L	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	449					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.P449Q(3)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443												
OR13C3	138803	broad.mit.edu	37	9	107298585	107298585	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:107298585C>T	uc004bcb.1	-	0	510	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAATACATACGCCACCTTGC	0.468												
FIGF	2277	broad.mit.edu	37	X	15364311	15364311	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:15364311G>A	uc004cwt.2	-	6	1476	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	337					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTGGAAAGCGGCAATGCTTT	0.478												
PTCHD1	139411	broad.mit.edu	37	X	23397772	23397772	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:23397772T>C	uc004dal.4	+	1	424	c.416T>C	c.(415-417)aTa>aCa	p.I139T	PTCHD1_uc010nfu.2_Missense_Mutation_p.I139T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	139					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTGCCCATATATGTATCCTG	0.433												
CYBB	1536	broad.mit.edu	37	X	37665738	37665738	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:37665738C>T	uc004ddr.2	+	10	1474	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	471					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GGAACAATGCCGGCTTCCTCA	0.527												
PAGE1	8712	broad.mit.edu	37	X	49455937	49455937	+	Silent	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:49455937T>C	uc004dom.3	-	3	340	c.207A>G	c.(205-207)ccA>ccG	p.P69P		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	69					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					ACCCAGTCTTTGGCTGAACCA	0.438												
FOXR2	139628	broad.mit.edu	37	X	55650496	55650496	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:55650496G>A	uc004duo.3	+	0	664	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	118					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAAAAAGACGAAGGGTCTAA	0.527												
SLC7A3	84889	broad.mit.edu	37	X	70148360	70148360	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:70148360T>C	uc004dyn.3	-	3	827	c.653A>G	c.(652-654)aAg>aGg	p.K218R	SLC7A3_uc004dyo.3_Missense_Mutation_p.K218R	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	218					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTGAGCTTCCAGTTGTG	0.507												
ZCCHC5	203430	broad.mit.edu	37	X	77912605	77912605	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:77912605C>T	uc022bzi.1	-	0	1313	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	438							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547												
RNF113A	7737	broad.mit.edu	37	X	119005259	119005259	+	Silent	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:119005259C>T	uc004esb.3	-	0	533	c.318G>A	c.(316-318)gcG>gcA	p.A106A	NDUFA1_uc004esc.4_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	Homo sapiens ring finger protein 113A (RNF113A), mRNA.	106							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCACGGGTTTCGCCGAACGGG	0.552												
ENOX2	10495	broad.mit.edu	37	X	129759313	129759313	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:129759313C>A	uc004evw.3	-	15	2226	c.1808G>T	c.(1807-1809)gGc>gTc	p.G603V	ENOX2_uc004evx.3_Missense_Mutation_p.G574V|ENOX2_uc004evy.3_Missense_Mutation_p.G574V|ENOX2_uc004evv.3_Missense_Mutation_p.G428V	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	603					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCCCTCGAAGCCACAGAATTT	0.438												
SLITRK2	84631	broad.mit.edu	37	X	144904765	144904765	+	Silent	SNP	G	G	A			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:144904765G>A	uc022cfn.1	+	0	822	c.822G>A	c.(820-822)agG>agA	p.R274R	SLITRK2_uc004fcd.3_Silent_p.R274R|SLITRK2_uc010nsp.3_Silent_p.R274R|SLITRK2_uc010nso.3_Silent_p.R274R|SLITRK2_uc011mwq.2_Silent_p.R274R|SLITRK2_uc011mwr.2_Silent_p.R274R|SLITRK2_uc011mws.2_Silent_p.R274R|SLITRK2_uc004fcg.3_Silent_p.R274R|SLITRK2_uc011mwt.2_Silent_p.R274R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	274						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTCAGAGGGGCAGCCATG	0.557												
MTM1	4534	broad.mit.edu	37	X	149832009	149832009	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:149832009C>T	uc004fef.4	+	13	1647	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P487L|MTM1_uc011mxz.2_Missense_Mutation_p.P409L|MTM1_uc010nte.3_Missense_Mutation_p.P392L	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	524	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATCCAGTTGCCAGT	0.358												
HCFC1	3054	broad.mit.edu	37	X	153229664	153229664	+	Silent	SNP	G	G	T			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:153229664G>T	uc004fjp.3	-	2	942	c.414C>A	c.(412-414)ctC>ctA	p.L138L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	138					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTGCCCGAGTCGAGGAC	0.562												
