Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR14I1	401994	broad.mit.edu	37	1	248845183	248845183	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:248845183C>T	ENST00000342623.3	-	1	446	c.423G>A	c.(421-423)caG>caA	p.Q141Q		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGACTGCCATCTGATAGCACC	0.537000													29	45					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065806	23065806	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:23065806C>A	ENST00000246006.4	-	1	1171	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	342	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCACACAGTCCAGCTGACTC	0.642000													8	32					0.307466	0.310779	1	1	0
CNGB3	54714	broad.mit.edu	37	8	87656859	87656859	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:87656859T>A	ENST00000320005.5	-	9	1093	c.1046A>T	c.(1045-1047)tAt>tTt	p.Y349F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	349					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCTGTAGATATATGCTTTGTC	0.348000													10	46					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187074810	187074810	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:187074810G>C	ENST00000356371.5	+	5	971	c.971G>C	c.(970-972)aGa>aCa	p.R324T	FAM149A_ENST00000514153.1_Missense_Mutation_p.R33T|FAM149A_ENST00000503432.1_Missense_Mutation_p.R33T|FAM149A_ENST00000502970.1_Missense_Mutation_p.R33T|FAM149A_ENST00000389354.5_Missense_Mutation_p.R33T|FAM149A_ENST00000514829.1_3'UTR|FAM149A_ENST00000227065.4_Missense_Mutation_p.R33T			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	324										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTATTAGGAAGACAGCTGATC	0.498000													46	164					0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4818034	4818034	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:4818034T>G	ENST00000248244.5	-	2	585	c.356A>C	c.(355-357)cAg>cCg	p.Q119P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	119					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GACGGCTTCCTGGTAGGCCAC	0.672000													13	69					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470743	10470743	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:10470743G>T	ENST00000382483.3	-	4	1088	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	289					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCTGCCAGGAGCAGGGCCC	0.652000													41	69					1.38658e-30	2.40853e-30	1	1	0
FOXB1	27023	broad.mit.edu	37	15	60298113	60298113	+	Silent	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:60298113C>G	ENST00000396057.4	+	2	1430	c.951C>G	c.(949-951)tcC>tcG	p.S317S	FOXB1_ENST00000560857.1_Intron	NM_012182.2	NP_036314.2	Q99853	FOXB1_HUMAN	forkhead box B1	317					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						GCCCGGCCTCCGCCTTGCACT	0.701000													3	14					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46897370	46897370	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:46897370G>A	ENST00000378623.1	-	26	3926	c.3684C>T	c.(3682-3684)gcC>gcT	p.A1228A		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1228					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTGGGCATCGGCCCATAGCA	0.597000													5	41					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936872	15936872	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:15936872C>A	ENST00000504595.1	+	4	1534	c.1053C>A	c.(1051-1053)cgC>cgA	p.R351R	FBXL7_ENST00000510662.1_Silent_p.R304R|FBXL7_ENST00000329673.7_Silent_p.R339R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	351					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TGGAGTCCCGCCTGCGGTACC	0.657000													8	16					1.11149e-13	1.73763e-13	1	1	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	41					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321989	52321989	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:52321989C>T	ENST00000356297.4	-	17	2295	c.2195G>A	c.(2194-2196)gGc>gAc	p.G732D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G732D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	732					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GTTGCACGTGCCGTCGTGGGC	0.677000													11	26					0	0	1	0	0
ACOX1	51	broad.mit.edu	37	17	73956347	73956347	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:73956347C>A	ENST00000537812.1	-	3	913	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	ACOX1_ENST00000301608.4_Intron|ACOX1_ENST00000293217.5_Missense_Mutation_p.A127S|ACOX1_ENST00000591857.1_5'UTR	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	127					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						AAGTTCCAGGCGGGCATGAAG	0.587000													11	42					0.000151284	0.000176499	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179576889	179576889	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:179576889G>A	ENST00000467460.1	-	8	1113	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PEX5L_ENST00000476138.1_Silent_p.S218S|PEX5L_ENST00000472994.1_Silent_p.S202S|PEX5L_ENST00000392649.3_Silent_p.S153S|PEX5L_ENST00000464614.1_Silent_p.S153S|PEX5L_ENST00000263962.8_Silent_p.S259S|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000468741.1_Silent_p.S69S|PEX5L_ENST00000485199.1_Silent_p.S226S|PEX5L_ENST00000465751.1_Silent_p.S237S	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	261					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTCTTCTAAGGAGTGGTTTC	0.378000													40	36					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519515	43519515	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:43519515T>A	ENST00000401740.1	-	4	820	c.717A>T	c.(715-717)ccA>ccT	p.P239P	PSG11_ENST00000306322.7_Silent_p.P117P|PSG11_ENST00000403486.1_Silent_p.P117P|PSG11_ENST00000320078.7_Silent_p.P239P			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	239					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGGGGAGGTCTGGACCATCTG	0.488000													59	133					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101714424	101714424	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr13:101714424C>A	ENST00000251127.6	-	41	4732	c.4651G>T	c.(4651-4653)Gag>Tag	p.E1551*		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1551						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGAGTTCCTCCAGCTGCAAG	0.562000													12	45					0.0135373	0.0143642	1	1	0
NHS	4810	broad.mit.edu	37	X	17746076	17746076	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:17746076G>A	ENST00000380060.3	+	6	4125	c.3787G>A	c.(3787-3789)Gat>Aat	p.D1263N	NHS_ENST00000398097.3_Missense_Mutation_p.D1107N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1263						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCGCCCAAATGATTTGGATGG	0.483000													9	90					0	0	1	0	0
CCDC68	80323	broad.mit.edu	37	18	52604107	52604107	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:52604107T>A	ENST00000591504.1	-	6	702	c.428A>T	c.(427-429)gAa>gTa	p.E143V	CCDC68_ENST00000432185.1_Missense_Mutation_p.E143V|CCDC68_ENST00000337363.4_Missense_Mutation_p.E143V	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	143										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TCTCACTTCTTCAGATTGCGT	0.468000													22	41					0	0	1	0	0
CDX4	1046	broad.mit.edu	37	X	72667368	72667368	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:72667368G>T	ENST00000373514.2	+	1	279	c.279G>T	c.(277-279)atG>atT	p.M93I		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	93						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTAGTACAATGGGCACAGTGC	0.632000													15	27					5.35267e-07	6.7123e-07	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109808540	109808540	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:109808540G>T	ENST00000271332.3	+	14	5972	c.5911_splice	c.e14+1	p.V1971_splice		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1971	Laminin EGF-like.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGCTGTGAAGGTGGGGCTCC	0.632000													9	35					1.58986e-06	1.96223e-06	1	1	0
CEP97	79598	broad.mit.edu	37	3	101476616	101476616	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:101476616C>T	ENST00000341893.3	+	9	1918	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	CEP97_ENST00000494050.1_Intron|CEP97_ENST00000327230.4_Missense_Mutation_p.T389M			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	389	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GACATACAGACGGATGAGGAC	0.418000													10	80					0	0	1	0	0
PYDC2	152138	broad.mit.edu	37	3	191179035	191179035	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:191179035T>A	ENST00000518817.1	+	1	84	c.84T>A	c.(82-84)tcT>tcA	p.S28S		NM_001083308.1	NP_001076777.1	Q56P42	PYDC2_HUMAN	pyrin domain containing 2	28	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGTTCAAGTCTCTGATCAGAA	0.522000													83	64					0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	35002673	35002673	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:35002673T>A	ENST00000250454.3	-	3	410	c.329A>T	c.(328-330)gAt>gTt	p.D110V		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	110					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATCCTCGGAATCAGAATCAAA	0.343000													22	103					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13071129	13071129	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:13071129C>T	ENST00000506447.1	+	28	5346	c.5266C>T	c.(5266-5268)Cct>Tct	p.P1756S	CEP192_ENST00000430049.2_Missense_Mutation_p.P1281S|CEP192_ENST00000325971.8_Missense_Mutation_p.P1160S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1351										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACCTCTGTCACCTGGACCTTG	0.418000													6	31					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237957224	237957224	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:237957224G>T	ENST00000366574.2	+	95	14157	c.13840G>T	c.(13840-13842)Ggg>Tgg	p.G4614W	RYR2_ENST00000360064.6_Missense_Mutation_p.G4620W|RYR2_ENST00000542537.1_Missense_Mutation_p.G4598W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4614					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAATTTGATGGGCTTTATAT	0.338000													14	25					4.36969e-10	6.21026e-10	1	1	0
ZNF808	388558	broad.mit.edu	37	19	53057948	53057948	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:53057948A>T	ENST00000359798.4	+	5	1959	c.1779A>T	c.(1777-1779)aaA>aaT	p.K593N		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CTGGAGAGAAACCTTACAAAT	0.378000													23	89					0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198358151	198358151	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:198358151A>T	ENST00000388968.3	-	7	1033	c.766T>A	c.(766-768)Tcc>Acc	p.S256T	HSPD1_ENST00000345042.2_Missense_Mutation_p.S256T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	256					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGTACAATGGACTGGATACTA	0.368000													22	66					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18833000	18833000	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:18833000C>A	ENST00000406451.3	+	17	2388	c.2238C>A	c.(2236-2238)caC>caA	p.H746Q	HDAC9_ENST00000401921.1_Missense_Mutation_p.H705Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.H749Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.H746Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	746	Histone deacetylase.			H -> R (in Ref. 3; AAO27363).	B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGAGCTACACTCGTCCGGTG	0.527000													5	10					4.096e-09	5.65007e-09	1	1	0
MUC4	4585	broad.mit.edu	37	3	195508336	195508336	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:195508336C>T	ENST00000463781.3	-	2	10574	c.10115G>A	c.(10114-10116)gGt>gAt	p.G3372D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G3372D	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	149					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGGTGTCACCTGTGGAAGC	0.587000													3	6					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85506694	85506694	+	Splice_Site	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:85506694T>A	ENST00000370587.1	-	4	771	c.396_splice	c.e4+1	p.Q132_splice	MCOLN3_ENST00000370589.2_Splice_Site_p.Q132_splice|MCOLN3_ENST00000341115.4_Intron|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	132						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTGATTTACCTGGTTTACTGC	0.378000													20	124					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6121271	6121271	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:6121271C>T	ENST00000261405.5	-	33	5900	c.5646G>A	c.(5644-5646)gaG>gaA	p.E1882E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1882					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATTCCCATCCTCATCCATGC	0.408000													33	197					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898406	6898406	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:6898406C>T	ENST00000379829.2	+	1	551	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGGGTGAACCACTTCTTCT	0.517000													26	57					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34408645	34408645	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:34408645C>G	ENST00000374789.3	-	24	3898	c.3573G>C	c.(3571-3573)caG>caC	p.Q1191H	PARD3_ENST00000374788.3_Missense_Mutation_p.Q1188H|PARD3_ENST00000374790.3_Missense_Mutation_p.Q1131H|PARD3_ENST00000350537.4_Missense_Mutation_p.Q1145H|PARD3_ENST00000545693.1_Missense_Mutation_p.Q1175H|PARD3_ENST00000374794.3_Missense_Mutation_p.Q1079H|PARD3_ENST00000545260.1_Missense_Mutation_p.Q1101H|PARD3_ENST00000346874.4_Missense_Mutation_p.Q1154H	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1191					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTCGCCCGCTCTGCGTCGCCG	0.602000													9	24					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													3	14					0.00909568	0.00969517	1	1	0
TMEM168	64418	broad.mit.edu	37	7	112407327	112407327	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:112407327C>T	ENST00000312814.5	-	5	2579	c.2019G>A	c.(2017-2019)ttG>ttA	p.L673L	TMEM168_ENST00000454074.1_Silent_p.L673L	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	673						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TTAATCTTTTCAAGCACCTAA	0.388000													6	56					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40421313	40421313	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:40421313G>T	ENST00000221347.6	-	5	2615	c.2608C>A	c.(2608-2610)Cca>Aca	p.P870T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	870	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACATAGTGTGGGTCCCCGGAC	0.682000													5	18					6.5536e-12	9.91496e-12	1	1	0
RPL28	6158	broad.mit.edu	37	19	55898026	55898026	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:55898026G>A	ENST00000344063.2	+	3	799	c.170G>A	c.(169-171)gGc>gAc	p.G57D	RPL28_ENST00000558752.1_Missense_Mutation_p.G57D|RPL28_ENST00000560055.1_Missense_Mutation_p.G57D|RPL28_ENST00000559463.1_Missense_Mutation_p.G57D|RPL28_ENST00000560583.1_Missense_Mutation_p.G57D|RPL28_ENST00000558815.1_Missense_Mutation_p.G57D|RPL28_ENST00000458349.2_Missense_Mutation_p.G57D|RPL28_ENST00000431533.2_Missense_Mutation_p.G57D|RPL28_ENST00000428193.2_Missense_Mutation_p.G57D|RPL28_ENST00000558131.1_Missense_Mutation_p.G57D			P46779	RL28_HUMAN	ribosomal protein L28	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCAGCCGACGGCAAAGGTGTC	0.582000													22	121					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739998	38739998	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:38739998G>T	ENST00000449082.2	-	27	4712	c.4713C>A	c.(4711-4713)ctC>ctA	p.L1571L		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1571					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGACTCTGAAGAGCGTTGGGG	0.488000													11	88					2.80697e-09	3.89488e-09	1	1	0
TBC1D32	221322	broad.mit.edu	37	6	121563399	121563399	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:121563399G>A	ENST00000275159.6	-	18	2104	c.2105C>T	c.(2104-2106)gCt>gTt	p.A702V	TBC1D32_ENST00000398212.2_Missense_Mutation_p.A702V					TBC1 domain family, member 32																		TTCATTGATAGCACCTGTTCT	0.338000													9	44					0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440333	99440333	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:99440333C>A	ENST00000287042.4	+	2	476	c.126C>A	c.(124-126)cgC>cgA	p.R42R	KCNS2_ENST00000521839.1_Silent_p.R42R	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	42						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			CCGAGACGCGCCTGGGCCGCT	0.652000													15	47					2.32078e-09	3.2491e-09	1	1	0
BPI	671	broad.mit.edu	37	20	36962874	36962874	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:36962874C>A	ENST00000262865.4	+	13	1416	c.1327C>A	c.(1327-1329)Ctt>Att	p.L443I	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	443					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGTACCCATTCTTGTGCTGCC	0.507000													61	211					4.14589e-37	7.33745e-37	1	1	0
FDXR	2232	broad.mit.edu	37	17	72858954	72858954	+	Silent	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:72858954G>C	ENST00000442102.2	-	12	1676	c.1590C>G	c.(1588-1590)cgC>cgG	p.R530R	FDXR_ENST00000581530.1_Silent_p.R493R|FDXR_ENST00000544854.1_Silent_p.R435R|FDXR_ENST00000582944.1_Silent_p.R479R|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000420580.2_Silent_p.R447R|FDXR_ENST00000413947.2_Silent_p.R518R|FDXR_ENST00000293195.5_Silent_p.R487R|FDXR_ENST00000583917.1_Silent_p.R459R	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	487					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGCCCAGGAGGCGCAGCATCT	0.677000													10	59					0	0	1	0	0
TMEM169	92691	broad.mit.edu	37	2	216965043	216965043	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:216965043C>A	ENST00000454545.1	+	4	998	c.672C>A	c.(670-672)tcC>tcA	p.S224S	TMEM169_ENST00000437356.2_Silent_p.S224S|TMEM169_ENST00000406027.2_Silent_p.S224S|TMEM169_ENST00000295658.4_Silent_p.S224S	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	224						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGCTTCTTCCCTCGGCCTCT	0.562000													53	83					9.53978e-28	1.6329e-27	1	1	0
GIGYF1	64599	broad.mit.edu	37	7	100283982	100283982	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:100283982C>A	ENST00000275732.5	-	8	1978	c.769G>T	c.(769-771)Gat>Tat	p.D257Y	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	257										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CCTCCTCGATCCCCTCGCAAA	0.627000													6	63					0.000157383	0.000182254	1	1	0
BANP	54971	broad.mit.edu	37	16	88052139	88052139	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:88052139G>T	ENST00000393207.1	+	7	958	c.737G>T	c.(736-738)cGc>cTc	p.R246L	BANP_ENST00000355163.5_Missense_Mutation_p.R221L|BANP_ENST00000286122.7_Missense_Mutation_p.R246L|BANP_ENST00000538234.1_Missense_Mutation_p.R254L|BANP_ENST00000355022.4_Missense_Mutation_p.R215L|BANP_ENST00000393208.2_Missense_Mutation_p.R215L|BANP_ENST00000479780.2_Missense_Mutation_p.R215L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	246	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ACCAACTGCCGCACGGCCGAG	0.642000													12	39					1.5842e-08	2.12891e-08	1	1	0
OR14K1	343170	broad.mit.edu	37	1	247902770	247902770	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:247902770C>A	ENST00000283225.2	+	1	854	c.854C>A	c.(853-855)cCt>cAt	p.P285H	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						ACCTTGAACCCTGTTATCTAC	0.433000													7	48					0.000442599	0.000498988	1	1	0
SERPIND1	3053	broad.mit.edu	37	22	21134219	21134219	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr22:21134219C>A	ENST00000215727.5	+	2	902	c.619C>A	c.(619-621)Cat>Aat	p.H207N	PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.H207N	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	207	Glycosaminoglycan-binding site.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	TAAGCTGACTCATCGCCTCTT	0.413000													8	45					2.74318e-10	3.95862e-10	1	1	0
PREX2	80243	broad.mit.edu	37	8	69033262	69033262	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:69033262G>T	ENST00000288368.4	+	30	3979	c.3702G>T	c.(3700-3702)caG>caT	p.Q1234H		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1234					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTCTTGCTCAGAACATCAGGA	0.398000													11	60					4.7546e-09	6.5202e-09	1	1	0
EXOC4	60412	broad.mit.edu	37	7	133164841	133164841	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:133164841T>A	ENST00000253861.4	+	9	1395	c.1366T>A	c.(1366-1368)Tat>Aat	p.Y456N	EXOC4_ENST00000393161.2_Missense_Mutation_p.Y456N|EXOC4_ENST00000539845.1_Missense_Mutation_p.Y355N	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	456					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TATGAGCGCCTATCTGCGAGA	0.468000													10	70					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32407753	32407753	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:32407753G>T	ENST00000357033.4	-	32	4589	c.4383C>A	c.(4381-4383)ttC>ttA	p.F1461L	DMD_ENST00000378677.2_Missense_Mutation_p.F1457L	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1461	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGGTTTCTGGAATAATCGAA	0.368000													8	67					4.68919e-08	6.1431e-08	1	1	0
SPATC1L	84221	broad.mit.edu	37	21	47581964	47581964	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr21:47581964C>A	ENST00000291672.5	-	4	1623	c.562G>T	c.(562-564)Ggc>Tgc	p.G188C	SPATC1L_ENST00000330205.6_Missense_Mutation_p.G34C	NM_001142854.1	NP_001136326.1			spermatogenesis and centriole associated 1-like																		TTCTCGGCGCCCGCGAAGCTC	0.716000													4	12					0.00909568	0.00969517	1	1	0
PCDH18	54510	broad.mit.edu	37	4	138442428	138442428	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:138442428C>A	ENST00000344876.4	-	4	3549	c.3163G>T	c.(3163-3165)Gca>Tca	p.A1055S	PCDH18_ENST00000412923.2_Missense_Mutation_p.A1054S|PCDH18_ENST00000511115.1_Missense_Mutation_p.A235S|PCDH18_ENST00000510305.1_Missense_Mutation_p.A266S|PCDH18_ENST00000507846.1_Missense_Mutation_p.A834S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1055	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGCCCATGCCGCTACCCCC	0.572000													8	36					5.18039e-06	6.32709e-06	1	1	0
AGK	55750	broad.mit.edu	37	7	141292968	141292968	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:141292968G>T	ENST00000355413.4	+	3	384	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	AGK_ENST00000495028.1_3'UTR|AGK_ENST00000492693.1_Missense_Mutation_p.A42S|AGK_ENST00000535825.1_Missense_Mutation_p.A42S|AGK_ENST00000473247.1_Missense_Mutation_p.A14S	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	42					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					AAGGAGAGCAGCCTGTCAAGA	0.348000													12	24					2.61681e-11	3.88382e-11	1	1	0
RAET1K	646024	broad.mit.edu	37	6	150322557	150322557	+	RNA	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:150322557T>A	ENST00000533735.1	-	0	319					NR_024045.1																						CATCTCTTAGTGTTTCAGTTT	0.418000													5	5					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160104950	160104950	+	Silent	SNP	T	T	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:160104950T>G	ENST00000409990.3	-	10	1462	c.1206A>C	c.(1204-1206)tcA>tcC	p.S402S	WDSUB1_ENST00000392796.3_Silent_p.S402S|WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000359774.4_Silent_p.S402S|WDSUB1_ENST00000358147.4_Silent_p.S310S	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	402						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CAGGAATTCCTGAAGAAAGGG	0.403000													8	58					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088911	86088911	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:86088911G>T	ENST00000330753.4	+	2	1820	c.1053G>T	c.(1051-1053)agG>agT	p.R351S	FLRT2_ENST00000554746.1_Missense_Mutation_p.R351S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	351	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGGCCGTCAGGGAATTAAATA	0.537000													25	173					5.61819e-17	9.08597e-17	1	1	0
AASDH	132949	broad.mit.edu	37	4	57221479	57221479	+	Silent	SNP	T	T	C	rs145602652		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:57221479T>C	ENST00000205214.6	-	6	1152	c.972A>G	c.(970-972)tcA>tcG	p.S324S	AASDH_ENST00000602986.1_Silent_p.S171S|AASDH_ENST00000502617.1_Silent_p.S324S|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000513376.1_Silent_p.S224S|AASDH_ENST00000451613.1_Silent_p.S324S	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	324					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GAACTGTCAATGATGGAAACG	0.403000													24	88					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41003491	41003491	+	Missense_Mutation	SNP	C	C	T	rs143810077	byFrequency	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:41003491C>T	ENST00000352632.3	+	7	850	c.764C>T	c.(763-765)gCg>gTg	p.A255V	SPTBN4_ENST00000344104.3_Missense_Mutation_p.A255V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A255V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A255V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A255V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	255	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGCTGGCGCGGCTGCTG	0.612000													16	112					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777592	44777592	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:44777592C>T	ENST00000391958.2	+	5	906	c.779C>T	c.(778-780)tCt>tTt	p.S260F	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.S242F|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GAGCAAACCTCTGATGAAAAT	0.403000													13	45					0	0	1	0	0
DFNA5	1687	broad.mit.edu	37	7	24749878	24749878	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:24749878G>C	ENST00000545231.1	-	8	1485	c.335C>G	c.(334-336)tCt>tGt	p.S112C	DFNA5_ENST00000342947.3_Missense_Mutation_p.S276C|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000419307.1_Missense_Mutation_p.S112C|DFNA5_ENST00000409970.1_Missense_Mutation_p.S112C|DFNA5_ENST00000409775.3_Missense_Mutation_p.S276C			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	276					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ATCCTGGGAAGATATCCCATG	0.507000													18	140					0	0	1	0	0
NPPA	4878	broad.mit.edu	37	1	11907194	11907194	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:11907194G>T	ENST00000376480.3	-	2	524	c.426C>A	c.(424-426)agC>agA	p.S142R	NPPA_ENST00000376476.1_Missense_Mutation_p.S92R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	142					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCAGTCCGCTCTGGGCTC	0.597000													96	481					3.6033e-41	6.42566e-41	1	1	0
XPO6	23214	broad.mit.edu	37	16	28124239	28124239	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:28124239G>A	ENST00000304658.5	-	16	2637	c.2137C>T	c.(2137-2139)Cga>Tga	p.R713*	XPO6_ENST00000565698.1_Nonsense_Mutation_p.R699*	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	713					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCGACAAGTCGCAGGGCAGAG	0.572000													14	52					0	0	1	0	0
LINC01098	285501	broad.mit.edu	37	4	178897087	178897087	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:178897087C>T	ENST00000507870.1	+	5	752	c.290C>T	c.(289-291)tCt>tTt	p.S97F																	lung(8)|prostate(1)	9						TATATTTTTTCTAAATGCCAG	0.378000													18	105					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1969368	1969368	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:1969368C>A	ENST00000382722.5	-	19	2245	c.1883G>T	c.(1882-1884)cGa>cTa	p.R628L	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.R603L|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.R564L|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.R564L|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.R628L|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.R489L|CACNA2D4_ENST00000539048.2_5'UTR	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	628						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GAAAAGAACTCGCTTCTGAAA	0.557000													3	16					0.115264	0.119335	1	1	0
UGT2B11	10720	broad.mit.edu	37	4	70066308	70066308	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:70066308G>T	ENST00000446444.1	-	6	1448	c.1440C>A	c.(1438-1440)gcC>gcA	p.A480A	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	480					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A480A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAGGTCATGGGCTGCAACTC	0.468000													31	185					1.32136e-16	2.12961e-16	1	1	0
PRSS37	136242	broad.mit.edu	37	7	141537689	141537689	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:141537689G>C	ENST00000350549.3	-	3	772	c.401C>G	c.(400-402)tCa>tGa	p.S134*	PRSS37_ENST00000438520.1_Nonsense_Mutation_p.S134*	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	134	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTCCAAACCTGAGAGTAGACA	0.517000													15	90					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049557	90049557	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:90049557A>T	ENST00000330947.2	+	5	1708	c.1348A>T	c.(1348-1350)Atc>Ttc	p.I450F	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.I450F|LRRC8B_ENST00000439853.1_Missense_Mutation_p.I450F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	450						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CCTGGAGCTTATCCCAGAGGT	0.488000													9	29					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121000789	121000789	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:121000789G>T	ENST00000392793.1	+	10	3081	c.2810G>T	c.(2809-2811)cGc>cTc	p.R937L	TECTA_ENST00000264037.2_Missense_Mutation_p.R937L			O75443	TECTA_HUMAN	tectorin alpha	937					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.R937L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCCTATTACCGCACCTGCCTT	0.587000													36	47					2.35958e-20	3.91041e-20	1	1	0
ATP12A	479	broad.mit.edu	37	13	25265213	25265213	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr13:25265213C>A	ENST00000218548.6	+	8	1244	c.911C>A	c.(910-912)cCc>cAc	p.P304H	ATP12A_ENST00000381946.3_Missense_Mutation_p.P298H	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	298					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GAGAAGACGCCCATTGCCATT	0.512000													15	55					6.31663e-08	8.22916e-08	1	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136434	40136434	+	Missense_Mutation	SNP	C	C	G	rs74858686	by1000genomes	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:40136434C>G	ENST00000278198.2	-	2	3372	c.1409G>C	c.(1408-1410)cGg>cCg	p.R470P	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R470P|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R470P|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R470P			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	470					regulation of axonogenesis	integral to membrane	protein binding	p.R470Q(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCTGTGGTCCGTGCCTCATC	0.517000													23	18					0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576158	4576158	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:4576158C>A	ENST00000301396.4	-	16	2785	c.2560G>T	c.(2560-2562)Ggc>Tgc	p.G854C	PELP1_ENST00000572293.1_Missense_Mutation_p.G760C|PELP1_ENST00000436683.2_Missense_Mutation_p.G563C|PELP1_ENST00000269230.7_Missense_Mutation_p.G620C|PELP1_ENST00000574876.1_Missense_Mutation_p.G710C			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	710	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						ACAGAAAGGCCTAGGTGGTTG	0.662000													23	24					1.5548e-18	2.54077e-18	1	1	0
FAM129A	116496	broad.mit.edu	37	1	184767324	184767324	+	Splice_Site	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:184767324C>A	ENST00000367511.3	-	13	1748	c.1554_splice	c.e13-1	p.E519_splice	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	519					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCTGAAGCTCCTGGAGAGCA	0.393000													14	22					1.15088e-07	1.47074e-07	1	1	0
MYOF	26509	broad.mit.edu	37	10	95115430	95115430	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:95115430T>A	ENST00000371501.4	-	31	3480	c.3358A>T	c.(3358-3360)Act>Tct	p.T1120S	MYOF_ENST00000371502.4_Missense_Mutation_p.T1120S|MYOF_ENST00000358334.5_Missense_Mutation_p.T1107S|MYOF_ENST00000359263.4_Missense_Mutation_p.T1120S			Q9NZM1	MYOF_HUMAN	myoferlin	1120					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCGAACACAGTGGTGGCACTG	0.398000													100	260					0	0	1	0	0
LIX1L	128077	broad.mit.edu	37	1	145477436	145477436	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:145477436A>T	ENST00000369308.3	+	1	352	c.278A>T	c.(277-279)cAg>cTg	p.Q93L	RP11-315I20.1_ENST00000600340.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	93										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCACACGCAGGGCTATGGC	0.706000													8	15					0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25502813	25502813	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:25502813G>A	ENST00000330688.4	+	2	708	c.287G>A	c.(286-288)aGc>aAc	p.S96N	RARB_ENST00000404969.1_Missense_Mutation_p.S103N|RARB_ENST00000458646.1_5'UTR|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_5'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	103					embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TATGGGGTCAGCGCCTGTGAG	0.517000													17	114					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148958	34148958	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:34148958G>T	ENST00000346193.3	-	1	1489	c.1438C>A	c.(1438-1440)Ccg>Acg	p.P480T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	480										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGATGTTCCGGGTGGGGATGG	0.627000													8	100					1.76689e-08	2.35418e-08	1	1	0
SLFN12	55106	broad.mit.edu	37	17	33738841	33738841	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:33738841C>T	ENST00000394562.1	-	6	1776	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000452764.3_Missense_Mutation_p.R418K|SLFN12_ENST00000304905.5_Missense_Mutation_p.R418K			Q8IYM2	SLN12_HUMAN	schlafen family member 12	418							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAGCCCTTTCTGACAGAGTC	0.433000													9	92					0	0	1	0	0
CPEB1	64506	broad.mit.edu	37	15	83224664	83224664	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:83224664G>T	ENST00000563800.1	-	5	2621	c.896C>A	c.(895-897)cCc>cAc	p.P299H	CPEB1_ENST00000562019.1_Missense_Mutation_p.P272H|CPEB1_ENST00000450751.2_Missense_Mutation_p.P197H|CPEB1_ENST00000423133.2_Missense_Mutation_p.P197H|CPEB1_ENST00000398591.2_Missense_Mutation_p.P197H|CPEB1_ENST00000398592.2_Missense_Mutation_p.P46H|CPEB1_ENST00000261723.6_Missense_Mutation_p.P275H|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.P7T|CPEB1_ENST00000568757.1_Missense_Mutation_p.P197H|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.P272H|CPEB1_ENST00000564522.1_Missense_Mutation_p.P197H			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	272					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TATGCTGAAGGGGTCTTTGGG	0.592000													9	56					0.000151284	0.000176499	1	1	0
DHX8	1659	broad.mit.edu	37	17	41585856	41585856	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:41585856A>G	ENST00000262415.3	+	16	2542	c.2470A>G	c.(2470-2472)Atc>Gtc	p.I824V	DHX8_ENST00000540306.1_Missense_Mutation_p.I824V	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	824	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GCAGACCCGAATCTTTGACCC	0.488000													13	26					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47879979	47879979	+	Silent	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:47879979T>C	ENST00000396105.1	-	6	2439	c.2193A>G	c.(2191-2193)gaA>gaG	p.E731E	ZNFX1_ENST00000371752.1_Silent_p.E731E|ZNFX1_ENST00000371754.4_Silent_p.E731E	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	731							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTTGGCTCCTTCATGAAGCT	0.493000													5	3					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88895785	88895785	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:88895785G>T	ENST00000556553.1	+	8	1469	c.910G>T	c.(910-912)Gct>Tct	p.A304S	SPATA7_ENST00000356583.5_Missense_Mutation_p.A304S|SPATA7_ENST00000045347.7_Missense_Mutation_p.A336S|SPATA7_ENST00000393545.4_Missense_Mutation_p.A336S			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	336					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TAAGGATGATGCTCTTCAGCA	0.388000													8	83					1.58986e-06	1.96223e-06	1	1	0
OR1J2	26740	broad.mit.edu	37	9	125273105	125273105	+	Missense_Mutation	SNP	G	G	T	rs41277118		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:125273105G>T	ENST00000335302.5	+	1	25	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CCAGAGCAGCGTGTCCGAGTT	0.527000													59	168					5.01655e-19	8.22645e-19	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38627501	38627501	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:38627501G>A	ENST00000413689.1	-	16	2661	c.2468C>T	c.(2467-2469)cCc>cTc	p.P823L	SCN5A_ENST00000449557.2_Missense_Mutation_p.P823L|SCN5A_ENST00000450102.2_Missense_Mutation_p.P823L|SCN5A_ENST00000451551.2_Missense_Mutation_p.P823L|SCN5A_ENST00000425664.1_Missense_Mutation_p.P823L|SCN5A_ENST00000333535.4_Missense_Mutation_p.P823L|SCN5A_ENST00000455624.2_Missense_Mutation_p.P823L|SCN5A_ENST00000443581.1_Missense_Mutation_p.P823L|SCN5A_ENST00000414099.2_Missense_Mutation_p.P823L|SCN5A_ENST00000423572.2_Missense_Mutation_p.P823L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	823					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTTCAGGGTGGGCCATGATTT	0.587000													11	37					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408621	50408621	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:50408621C>A	ENST00000217086.4	-	2	512	c.401G>T	c.(400-402)aGg>aTg	p.R134M	SALL4_ENST00000395997.3_Missense_Mutation_p.R134M|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	134					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						GCCATTCTCCCTGTGACAGTC	0.597000													76	261					3.28864e-39	5.84232e-39	1	1	0
BEST3	144453	broad.mit.edu	37	12	70070788	70070788	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:70070788C>G	ENST00000330891.5	-	7	1001	c.775G>C	c.(775-777)Gat>Cat	p.D259H	BEST3_ENST00000488961.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.D259H|BEST3_ENST00000553096.1_Missense_Mutation_p.D153H	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	259						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTGGTGGGATCCAAAAACTGG	0.502000													32	47					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79974936	79974936	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:79974936C>T	ENST00000306729.7	+	16	1974	c.1877C>T	c.(1876-1878)gCc>gTc	p.A626V	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.A532V|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.A480V|ASPSCR1_ENST00000582404.1_3'UTR	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	532							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCAGGGACGGCCCAGCCCGTG	0.701000			T	TFE3	alveolar soft part sarcoma								8	32					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749685	80749685	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:80749685G>A	ENST00000458043.2	+	46	5742	c.5736G>A	c.(5734-5736)atG>atA	p.M1912I	OTOGL_ENST00000547103.1_Missense_Mutation_p.M1900I	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AAGTTGTCATGGGCATCATTG	0.393000													116	138					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75964577	75964577	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:75964577T>A	ENST00000274364.6	+	23	3048	c.2751T>A	c.(2749-2751)acT>acA	p.T917T	IQGAP2_ENST00000379730.3_Silent_p.T419T|IQGAP2_ENST00000396234.3_Silent_p.T413T|IQGAP2_ENST00000502745.1_Silent_p.T413T	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	917	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTATGGATACTGTTATTTTCA	0.338000													7	34					0	0	1	0	0
TAF5	6877	broad.mit.edu	37	10	105133151	105133151	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:105133151G>C	ENST00000369839.3	+	2	619	c.596G>C	c.(595-597)aGt>aCt	p.S199T	TAF5_ENST00000351396.4_Missense_Mutation_p.S199T	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	199					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAGATGTCAGTGCCGTGTTG	0.398000													21	140					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48629231	48629231	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:48629231A>T	ENST00000328333.8	-	11	1489	c.1382T>A	c.(1381-1383)gTa>gAa	p.V461E	COL7A1_ENST00000454817.1_Missense_Mutation_p.V461E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	461	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGAGGGCAGTACCACCTTCTG	0.632000													3	30					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111025181	111025181	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:111025181G>A	ENST00000262839.2	-	8	3000	c.2082C>T	c.(2080-2082)cgC>cgT	p.R694R		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	694					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCTCAAGTTGCGCCTTCTCC	0.443000													14	91					0	0	1	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627725	43627725	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:43627725C>A	ENST00000332857.6	-	4	990	c.962G>T	c.(961-963)aGc>aTc	p.S321I		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GCCATCAGAGCTGAGCAAAAA	0.468000													31	220					3.93418e-24	6.68526e-24	1	1	0
ZNF93	81931	broad.mit.edu	37	19	20027404	20027404	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:20027404C>T	ENST00000343769.5	+	3	194	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	ZNF93_ENST00000592160.1_Silent_p.L56L|ZNF93_ENST00000591366.1_Silent_p.L56L|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	56	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GATCGCCCATCTGGAGCAAGG	0.393000													20	105					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8555174	8555174	+	Missense_Mutation	SNP	G	G	T	rs150577340		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:8555174G>T	ENST00000337907.3	-	11	1687	c.1053C>A	c.(1051-1053)gaC>gaA	p.D351E	RERE_ENST00000377464.1_Missense_Mutation_p.D83E|RERE_ENST00000400907.2_Missense_Mutation_p.D351E|RERE_ENST00000400908.2_Missense_Mutation_p.D351E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	351	ELM2.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CGACACAGCCGTCCTCTGTAG	0.468000													29	239					1.30998e-17	2.12589e-17	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104449269	104449269	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:104449269G>T	ENST00000361820.3	-	2	1513	c.913C>A	c.(913-915)Cag>Aag	p.Q305K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	305					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGAGGTCCTGGGTGGAGGGG	0.502000													13	78					9.31168e-06	1.12847e-05	1	1	0
TAAR6	319100	broad.mit.edu	37	6	132891922	132891922	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:132891922C>A	ENST00000275198.1	+	1	462	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	154						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTTGCATCAGCGTGTCCTGGA	0.498000													73	163					1.59627e-33	2.81447e-33	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176563716	176563716	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:176563716C>T	ENST00000367662.3	+	3	2140	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R326C	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	326					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.R326C(2)		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						CCTGGGGATCCGCTCAGGGAA	0.537000													8	61					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19662598	19662598	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:19662598C>T	ENST00000328041.6	+	10	1061	c.864C>T	c.(862-864)agC>agT	p.S288S		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	288						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGATGACAGCAGCAACTGCG	0.488000													18	71					0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130764843	130764843	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:130764843T>A	ENST00000509018.1	-	27	4737	c.4532A>T	c.(4531-4533)tAt>tTt	p.Y1511F	FNIP1_ENST00000514667.1_Missense_Mutation_p.Y1561F|RAPGEF6_ENST00000507093.1_Intron|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.Y1519F|RAPGEF6_ENST00000307984.5_Intron	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1511					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATCCCCAAATATCCTGGAGG	0.458000													14	81					0	0	1	0	0
SLC25A32	81034	broad.mit.edu	37	8	104413838	104413838	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:104413838C>T	ENST00000297578.4	-	6	884	c.718G>A	c.(718-720)Gca>Aca	p.A240T	SLC25A32_ENST00000523701.1_5'UTR|SLC25A32_ENST00000543107.1_Missense_Mutation_p.A108T	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	240					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TATGTTGCTGCGACAGCAAAT	0.363000													15	92					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738881	176738881	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:176738881C>G	ENST00000367662.3	+	16	5626	c.4462C>G	c.(4462-4464)Cgc>Ggc	p.R1488G		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1488	Sushi 2.				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						ATTTCTGAAACGCTGCTCAAT	0.527000													43	90					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123964535	123964535	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:123964535T>A	ENST00000314393.4	+	3	1620	c.785T>A	c.(784-786)cTa>cAa	p.L262Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	262	Required for homodimerization.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCTGTCCCACTAAATACTACC	0.512000													31	146					0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102586788	102586788	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:102586788G>T	ENST00000370296.2	+	11	1746	c.1196G>T	c.(1195-1197)cGt>cTt	p.R399L	PAX2_ENST00000361791.3_Missense_Mutation_p.R376L|PAX2_ENST00000556085.1_Silent_p.P347P|PAX2_ENST00000355243.3_Silent_p.P348P|PAX2_ENST00000428433.1_Silent_p.P371P			Q02962	PAX2_HUMAN	paired box 2	0					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCGGCAACCCGTACAGCCACC	0.677000													26	78					4.31634e-10	6.19071e-10	1	1	0
ZNF679	168417	broad.mit.edu	37	7	63726904	63726904	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:63726904G>T	ENST00000421025.1	+	5	1162	c.893G>T	c.(892-894)tGt>tTt	p.C298F	ZNF679_ENST00000255746.4_Missense_Mutation_p.C298F	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCATACACATGTGAAGAATGT	0.433000													27	45					3.57733e-08	4.71283e-08	1	1	0
LRP2	4036	broad.mit.edu	37	2	169989136	169989136	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:169989136G>A	ENST00000263816.3	-	77	13961	c.13676C>T	c.(13675-13677)tCt>tTt	p.S4559F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4559					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			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)	AACTATCTCAGAAGGGTTTAT	0.398000													13	89					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117660635	117660635	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:117660635C>A	ENST00000317775.6	-	26	4545	c.3860G>T	c.(3859-3861)gGg>gTg	p.G1287V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.G1321V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1287					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGCCGGCACCCGAAGACCAG	0.582000													37	75					4.17593e-13	6.44248e-13	1	1	0
CRYBB2	1415	broad.mit.edu	37	22	25623930	25623930	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr22:25623930G>T	ENST00000398215.2	+	4	455	c.284G>T	c.(283-285)aGc>aTc	p.S95I		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	95	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GACTCCCTCAGCTCCCTGAGG	0.587000													29	66					2.19358e-23	3.71404e-23	1	1	0
TCP10	6953	broad.mit.edu	37	6	167791459	167791459	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:167791459T>C	ENST00000366827.2	-	4	612	c.401A>G	c.(400-402)cAc>cGc	p.H134R	TCP10_ENST00000397829.4_Missense_Mutation_p.H134R			Q12799	TCP10_HUMAN	t-complex 10	161						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		AGGAGCTAAGTGGTTAGATGA	0.498000													8	165					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45900073	45900073	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:45900073C>A	ENST00000418234.2	-	4	520	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G148C	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	148	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTGCCTGCGCCATCGAAGGCG	0.791000													4	5					0.150653	0.154609	1	1	0
RNMT	8731	broad.mit.edu	37	18	13742486	13742486	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:13742486G>T	ENST00000383314.2	+	8	1214		c.e8-1		RNMT_ENST00000592764.1_Splice_Site|RNMT_ENST00000535051.1_Splice_Site|RNMT_ENST00000543302.2_Splice_Site|RNMT_ENST00000589866.1_Splice_Site|RNMT_ENST00000262173.3_Splice_Site			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase						mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						AACCTTGATAGAAGACGCCTT	0.313000													9	57					4.68919e-08	6.1431e-08	1	1	0
C1orf94	84970	broad.mit.edu	37	1	34667790	34667790	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:34667790C>A	ENST00000488417.1	+	4	1496	c.1376C>A	c.(1375-1377)cCa>cAa	p.P459Q	C1orf94_ENST00000373374.3_Missense_Mutation_p.P269Q	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	269							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTGAACCAGCCACTCTGGCTC	0.527000													3	55					1	1	1	1	0
GPR112	139378	broad.mit.edu	37	X	135432564	135432564	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:135432564G>A	ENST00000394143.1	+	6	6990	c.6699G>A	c.(6697-6699)tcG>tcA	p.S2233S	GPR112_ENST00000412101.1_Silent_p.S2028S|GPR112_ENST00000394141.1_Silent_p.S2028S|GPR112_ENST00000287534.4_Silent_p.S2170S|GPR112_ENST00000370652.1_Silent_p.S2233S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2233					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CGGAAGCATCGACTTCGCCTA	0.458000													14	72					0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75860706	75860706	+	Splice_Site	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:75860706G>A	ENST00000211998.4	+	14	1967	c.1872_splice	c.e14-1	p.V625_splice	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Splice_Site_p.V625_splice	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	625	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TTTCCTCAAGGTATTTGATGA	0.413000													9	30					0	0	1	0	0
STRIP1	85369	broad.mit.edu	37	1	110587508	110587508	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:110587508A>T	ENST00000369795.3	+	11	1355	c.1333A>T	c.(1333-1335)Ata>Tta	p.I445L	STRIP1_ENST00000369796.1_Missense_Mutation_p.I350L	NM_033088.2	NP_149079.2			striatin interacting protein 1																		CAGCAAATTTATAGGTTACAC	0.438000													15	52					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													3	66					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													4	13					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767516	181767516	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:181767516C>G	ENST00000526775.1	+	46	6467	c.6302C>G	c.(6301-6303)cCg>cGg	p.P2101R	CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1727R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P2163R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P2114R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P2144R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.P2052R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P2120R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2163					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCACCCGTCCCGCCAAAGCCC	0.632000													16	144					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46305627	46305627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:46305627C>A	ENST00000510861.1	-	8	879	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	GABRA2_ENST00000515082.1_Nonsense_Mutation_p.E236*|GABRA2_ENST00000507069.1_Nonsense_Mutation_p.E236*|GABRA2_ENST00000540012.1_Nonsense_Mutation_p.E181*|GABRA2_ENST00000514090.1_Nonsense_Mutation_p.E236*|GABRA2_ENST00000381620.4_Nonsense_Mutation_p.E236*|GABRA2_ENST00000356504.1_Nonsense_Mutation_p.E236*			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	236					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACAGTATATTCACCTGGAAGA	0.343000													8	31					0.307466	0.310779	1	1	0
LSM14A	26065	broad.mit.edu	37	19	34706141	34706141	+	Silent	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:34706141T>C	ENST00000544216.3	+	5	728	c.651T>C	c.(649-651)ccT>ccC	p.P217P	LSM14A_ENST00000540746.2_Silent_p.P176P|LSM14A_ENST00000433627.5_Silent_p.P217P	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	217					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GAAGGAGTCCTGTATCAACCA	0.512000													15	30					0	0	1	0	0
CASQ2	845	broad.mit.edu	37	1	116283413	116283413	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:116283413C>T	ENST00000261448.5	-	3	595	c.356G>A	c.(355-357)gGt>gAt	p.G119D	CASQ2_ENST00000456138.2_Intron	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	119					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TGTGCGATCACCCTTAAGAAT	0.448000													8	32					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:22155896A>C	ENST00000397126.4	-	4	2088	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													3	69					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150867286	150867286	+	Translation_Start_Site	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:150867286C>A	ENST00000370353.3	+	0	390				PRRG3_ENST00000370354.1_De_novo_Start_InFrame|PRRG3_ENST00000538575.1_De_novo_Start_InFrame			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)							extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGAGCATCATGGCAGGTG	0.537000													14	44					3.62473e-10	5.21472e-10	1	1	0
PRPSAP1	5635	broad.mit.edu	37	17	74328468	74328468	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:74328468C>T	ENST00000446526.3	-	4	784	c.339G>A	c.(337-339)ctG>ctA	p.L113L	PRPSAP1_ENST00000324684.4_Silent_p.L10L	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	84					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGGCAGTCTTCAGTGCGTAAG	0.473000													13	85					0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34256184	34256184	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:34256184C>A	ENST00000379166.2	-	11	3540	c.3421G>T	c.(3421-3423)Gac>Tac	p.D1141Y	KIF24_ENST00000379174.3_Missense_Mutation_p.D1007Y|KIF24_ENST00000402558.2_Missense_Mutation_p.D1141Y|KIF24_ENST00000345050.2_Missense_Mutation_p.D1007Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1141					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GGCAGCTTGTCAGCTGGGTGC	0.567000													4	30					0.00024832	0.000284054	1	1	0
NET1	10276	broad.mit.edu	37	10	5498572	5498572	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:5498572G>A	ENST00000355029.4	+	12	1548	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	NET1_ENST00000542715.1_Missense_Mutation_p.R288H|NET1_ENST00000380359.3_Missense_Mutation_p.R415H	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	469	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TTTAGAATTCGCTTCCATGAC	0.408000													51	93					0	0	1	0	0
HCCAT5	283902	broad.mit.edu	37	16	73126796	73126796	+	RNA	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:73126796G>T	ENST00000569990.2	+	0	549					NR_027756.1																						TGTGTCCCACGCGCTCCTGTT	0.527000													5	31					1.23904e-05	1.49386e-05	1	1	0
MSR1	4481	broad.mit.edu	37	8	16021697	16021697	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:16021697C>G	ENST00000350896.3	-	5	891	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q	MSR1_ENST00000355282.2_Missense_Mutation_p.E232Q|MSR1_ENST00000262101.5_Missense_Mutation_p.E232Q|MSR1_ENST00000381998.4_Missense_Mutation_p.E232Q|MSR1_ENST00000536385.1_Missense_Mutation_p.E6Q|MSR1_ENST00000445506.2_Missense_Mutation_p.E250Q	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	232					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGCACTTGTTCTTCTTTCATA	0.358000													10	31					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725300	106725300	+	RNA	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:106725300C>G	ENST00000390609.2	-	0	330																											TGAACCGGCCCTTCACGGAGT	0.552000													24	296					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104129284	104129284	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:104129284C>A	ENST00000388887.2	+	52	5680	c.5476C>A	c.(5476-5478)Ctt>Att	p.L1826I		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1826	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGCTGTGGATCTTCCCACATC	0.527000													12	16					1.05317e-09	1.48776e-09	1	1	0
STRN	6801	broad.mit.edu	37	2	37088301	37088301	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:37088301G>T	ENST00000263918.4	-	13	1651	c.1643C>A	c.(1642-1644)cCc>cAc	p.P548H	STRN_ENST00000379213.2_Missense_Mutation_p.P499H	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	548					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				GTCGATGTTGGGATTAGTGGT	0.413000													11	55					1.67942e-08	2.24401e-08	1	1	0
KCND1	3750	broad.mit.edu	37	X	48822640	48822640	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:48822640G>A	ENST00000218176.3	-	5	2837	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	KCND1_ENST00000376477.1_Missense_Mutation_p.R137C	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	514						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						GAGGTGCTACGGCTGGTGCGG	0.652000													6	14					0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103869729	103869729	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:103869729G>T	ENST00000361198.5	-	7	1112	c.489C>A	c.(487-489)ttC>ttA	p.F163L	LDB1_ENST00000425280.1_Missense_Mutation_p.F199L	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	199					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GCCGGATGCTGAAGTGCCACG	0.602000													25	95					6.07407e-21	1.01379e-20	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26104202	26104202	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr13:26104202C>A	ENST00000381655.2	+	3	429	c.287C>A	c.(286-288)gCt>gAt	p.A96D	ATP8A2_ENST00000255283.8_Missense_Mutation_p.A56D	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	56					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGAAGAGCTGCTAATGCCTTC	0.348000													6	36					0.00116845	0.00129245	1	1	0
GALNS	2588	broad.mit.edu	37	16	88907473	88907473	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:88907473T>C	ENST00000268695.5	-	4	437	c.349A>G	c.(349-351)Atc>Gtc	p.I117V	GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Missense_Mutation_p.I42V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	117						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GAGTCTGGGATGCCGCCCACA	0.632000													6	53					0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60273081	60273081	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:60273081G>T	ENST00000373886.3	+	1	182	c.178G>T	c.(178-180)Gcc>Tcc	p.A60S		NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	60					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GAAACTTGAGGCCATGTTACA	0.652000													11	30					3.27435e-08	4.32583e-08	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25469531	25469531	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:25469531C>T	ENST00000264709.3	-	10	1574	c.1237G>A	c.(1237-1239)Ggc>Agc	p.G413S	DNMT3A_ENST00000402667.1_Missense_Mutation_p.G190S|DNMT3A_ENST00000321117.5_Missense_Mutation_p.G413S|DNMT3A_ENST00000380746.4_Missense_Mutation_p.G224S	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	413					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGGAAGCCCCCCAGGGCC	0.637000			"""Mis, F, N, S"""		AML								15	91					0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659456	77659456	+	Silent	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:77659456G>C	ENST00000316249.3	+	2	1041	c.1041G>C	c.(1039-1041)ctG>ctC	p.L347L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	347					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGCGCGAGCTGGGCGCGCGCC	0.716000													6	11					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321495	90321495	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:90321495G>C	ENST00000469640.2	+	27	3959	c.3584G>C	c.(3583-3585)tGg>tCg	p.W1195S	DAPK1_ENST00000491893.1_Missense_Mutation_p.W1104S|DAPK1_ENST00000408954.3_Missense_Mutation_p.W1170S|DAPK1_ENST00000358077.5_Missense_Mutation_p.W1170S|DAPK1_ENST00000472284.1_Missense_Mutation_p.W1170S			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1170					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ATCCGCCTGTGGGTGAATGGC	0.647000									Chronic Lymphocytic Leukemia, Familial Clustering of				4	19					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18230762	18230762	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:18230762G>T	ENST00000380033.4	-	4	547	c.415C>A	c.(415-417)Cca>Aca	p.P139T	BEND2_ENST00000380030.3_Missense_Mutation_p.P139T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	139										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AAATGTACTGGGTGGTTTATC	0.343000													15	125					1.33834e-09	1.88492e-09	1	1	0
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463000													28	136					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48575318	48575318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr13:48575318G>A	ENST00000378654.3	-	1	144	c.88C>T	c.(88-90)Cag>Tag	p.Q30*	SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Intron	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	30					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GGCATTACCTGAGCAGCAGCC	0.677000													4	17					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2336748	2336748	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:2336748G>A	ENST00000301732.5	-	22	3925	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	ABCA3_ENST00000382381.3_Silent_p.S1017S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1075					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GGGGGAAGTTGGAGACCACAA	0.637000													17	144					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103405962	103405962	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:103405962C>G	ENST00000358392.2	-	43	3658	c.3341G>C	c.(3340-3342)gGg>gCg	p.G1114A	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1102A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G986A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1063A	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1102	Triple-helical region.		Missing (in STL2).		collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G1114E(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCCATCTCTCCCTGCAGGCCC	0.483000													6	34					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48608694	48608694	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:48608694C>A	ENST00000354276.3	-	3	343	c.16G>T	c.(16-18)Gtt>Ttt	p.V6F	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.V6F|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.V6F|PLA2G4C_ENST00000599111.1_Intron	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	6	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		ATTATGGAAACTTCAGAGCTT	0.463000													20	62					8.28177e-16	1.33019e-15	1	1	0
NAA40	79829	broad.mit.edu	37	11	63721935	63721935	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:63721935G>T	ENST00000377793.4	+	8	799	c.698G>T	c.(697-699)gGt>gTt	p.G233V	NAA40_ENST00000539656.1_Missense_Mutation_p.G120V|NAA40_ENST00000456907.2_Missense_Mutation_p.G193V|NAA40_ENST00000542163.1_Missense_Mutation_p.G212V	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	233				G -> S (in Ref. 1; BAB14720).			N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						GGGCACTGTGGTGGCTGCTGC	0.572000													19	36					1.10513e-12	1.69382e-12	1	1	0
GRHL3	57822	broad.mit.edu	37	1	24662994	24662994	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:24662994G>C	ENST00000361548.4	+	4	519	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	GRHL3_ENST00000350501.5_Missense_Mutation_p.E97Q|GRHL3_ENST00000342072.4_Missense_Mutation_p.E4Q|GRHL3_ENST00000236255.4_Missense_Mutation_p.E102Q|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_Missense_Mutation_p.E51Q	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	97					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CATGGAATATGAGACGGACCT	0.512000													19	75					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542842	14542842	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:14542842A>T	ENST00000358970.5	-	1	303	c.304T>A	c.(304-306)Tgc>Agc	p.C102S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	102										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAGTGACAGCACCACTTGCCC	0.617000													7	272					0	0	1	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273314	145273314	+	Silent	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:145273314G>C	ENST00000369340.3	+	4	612	c.168G>C	c.(166-168)ggG>ggC	p.G56G	RP11-458D21.5_ENST00000468030.1_Silent_p.G56G|NOTCH2NL_ENST00000362074.6_Silent_p.G56G|NOTCH2NL_ENST00000344859.3_Silent_p.G56G			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	56	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GTGCCTCAGGGTTTACAGGAG	0.572000													18	648					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45671515	45671515	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr21:45671515G>T	ENST00000270172.3	-	9	1243	c.760C>A	c.(760-762)Cgt>Agt	p.R254S	DNMT3L_ENST00000418993.1_Missense_Mutation_p.R254S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	254					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTGGGAGGACGGTCACAGGTG	0.627000													8	43					0.00448238	0.00483273	1	1	0
HS3ST2	9956	broad.mit.edu	37	16	22926539	22926539	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:22926539G>A	ENST00000261374.3	+	2	1194	c.760G>A	c.(760-762)Gtg>Atg	p.V254M		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	254						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CGGCATGTACGTGCTGCACCT	0.632000													32	146					0	0	1	0	0
HIST1H4H	8365	broad.mit.edu	37	6	26285613	26285613	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:26285613C>T	ENST00000289352.1	-	1	149	c.115G>A	c.(115-117)Gct>Act	p.A39T	HIST1H4H_ENST00000377727.1_Missense_Mutation_p.A39T			P62805	H4_HUMAN	histone cluster 1, H4h	39					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						CCGCGACGAGCAAGGCGCCGG	0.532000										HNSCC(76;0.23)			7	81					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21083703	21083703	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:21083703G>A	ENST00000375003.2	-	5	1981	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	HP1BP3_ENST00000312239.5_Nonsense_Mutation_p.Q313*			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	313	H15 1.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TGTTCTAACTGGCCCCTCTCT	0.413000													16	68					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48540827	48540827	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:48540827G>C	ENST00000427954.2	+	9	1078	c.1035G>C	c.(1033-1035)atG>atC	p.M345I	ACSF2_ENST00000502667.1_Missense_Mutation_p.M307I|ACSF2_ENST00000504392.1_Missense_Mutation_p.M277I|ACSF2_ENST00000541920.1_Missense_Mutation_p.M160I|ACSF2_ENST00000300441.4_Missense_Mutation_p.M320I			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	320					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGCACAATGATGTGTCTGA	0.592000													8	72					0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059006	59059006	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:59059006G>A	ENST00000361488.3	+	5	1097	c.217G>A	c.(217-219)Gag>Aag	p.E73K	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	73						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CGCCAAGCAGGAGCCCGTGAA	0.682000													6	45					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156752621	156752621	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:156752621G>A	ENST00000347377.6	+	17	2388	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	CYFIP2_ENST00000541131.1_Missense_Mutation_p.E578K|CYFIP2_ENST00000522463.1_Missense_Mutation_p.E457K|CYFIP2_ENST00000521420.1_Missense_Mutation_p.E627K|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000435847.2_Missense_Mutation_p.E352K|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.E678K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.E653K	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	678					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCATATCCTGGAAACCAAAGA	0.532000													5	21					0	0	1	0	0
PQLC2	54896	broad.mit.edu	37	1	19653061	19653061	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:19653061G>T	ENST00000375153.3	+	6	1202	c.562G>T	c.(562-564)Ggc>Tgc	p.G188C	PQLC2_ENST00000375155.3_Missense_Mutation_p.G188C|PQLC2_ENST00000400548.2_Missense_Mutation_p.G123C	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2	188	PQ-loop 2.					integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCGTCATCGGCTCCATCTC	0.627000													22	119					3.1745e-13	4.91366e-13	1	1	0
HHAT	55733	broad.mit.edu	37	1	210761419	210761419	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:210761419G>A	ENST00000367010.1	+	10	1448	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	HHAT_ENST00000545781.1_Silent_p.E344E|HHAT_ENST00000367009.1_Silent_p.E97E|HHAT_ENST00000391905.3_Silent_p.E407E|HHAT_ENST00000413764.2_Silent_p.E407E|HHAT_ENST00000308852.6_Silent_p.E362E|HHAT_ENST00000537898.1_Silent_p.E342E|HHAT_ENST00000541565.1_Silent_p.E270E|HHAT_ENST00000261458.3_Silent_p.E407E|HHAT_ENST00000545154.1_Silent_p.E408E	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	407					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GGCTGGTGGAGACTCCCTGCA	0.577000													4	10					0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45900072	45900072	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:45900072C>A	ENST00000418234.2	-	4	521	c.443G>T	c.(442-444)gGc>gTc	p.G148V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.G148V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	148	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GCTGCCTGCGCCATCGAAGGC	0.786000													4	5					0.150653	0.154609	1	1	0
KCNH1	3756	broad.mit.edu	37	1	211192293	211192293	+	Silent	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:211192293G>C	ENST00000367007.4	-	6	1033	c.864C>G	c.(862-864)cgC>cgG	p.R288R	KCNH1_ENST00000271751.4_Silent_p.R288R	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	288					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGTAGTTCATGCGGATAAGTT	0.448000													7	102					0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973322	235973322	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:235973322C>G	ENST00000389794.3	-	5	970	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	LYST_ENST00000536965.1_Missense_Mutation_p.E266Q|LYST_ENST00000389793.2_Missense_Mutation_p.E266Q			Q99698	LYST_HUMAN	lysosomal trafficking regulator	266					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAAACTTTTTCTAATAAAGAT	0.383000													8	39					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324410	161324410	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:161324410C>A	ENST00000428797.2	+	11	1708	c.1353C>A	c.(1351-1353)gcC>gcA	p.A451A	GABRA1_ENST00000437025.2_Silent_p.A451A|GABRA1_ENST00000444819.1_Silent_p.A451A|GABRA1_ENST00000393943.4_Silent_p.A451A|GABRA1_ENST00000420560.1_Silent_p.A451A|GABRA1_ENST00000023897.6_Silent_p.A451A	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	451					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGCTAAAAGCCCCCACACCAC	0.413000													8	91					3.86212e-05	4.56255e-05	1	1	0
KDM6B	23135	broad.mit.edu	37	17	7751720	7751720	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:7751720C>G	ENST00000254846.5	+	11	2503	c.2114C>G	c.(2113-2115)tCc>tGc	p.S705C	KDM6B_ENST00000448097.2_Missense_Mutation_p.S705C	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	705	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGGACGAATCCATTCGCAAG	0.572000													44	172					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314688	46314688	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:46314688G>T	ENST00000510861.1	-	5	474	c.301C>A	c.(301-303)Cgt>Agt	p.R101S	GABRA2_ENST00000515082.1_Missense_Mutation_p.R101S|GABRA2_ENST00000507069.1_Missense_Mutation_p.R101S|GABRA2_ENST00000540012.1_Missense_Mutation_p.R46S|GABRA2_ENST00000514090.1_Missense_Mutation_p.R101S|GABRA2_ENST00000381620.4_Missense_Mutation_p.R101S|GABRA2_ENST00000356504.1_Missense_Mutation_p.R101S			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	101					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AATTTTAAACGTTCATCTTTC	0.284000													4	29					0.00909568	0.00969517	1	1	0
C9orf40	55071	broad.mit.edu	37	9	77567246	77567246	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:77567246T>A	ENST00000376854.5	-	1	556	c.282A>T	c.(280-282)acA>acT	p.T94T		NM_017998.2	NP_060468.2	Q8IXQ3	CI040_HUMAN	chromosome 9 open reading frame 40	94										lung(2)|stomach(1)	3						GCGGATCGCCTGTCTCCAGAC	0.786000													3	7					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11098805	11098805	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:11098805A>T	ENST00000304623.8	-	15	2708	c.2519T>A	c.(2518-2520)aTg>aAg	p.M840K	CTNND2_ENST00000503622.1_Missense_Mutation_p.M503K|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.M407K|CTNND2_ENST00000511377.1_Missense_Mutation_p.M749K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	840					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTGCCACAGCATCTGGATCCC	0.512000													8	44					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152083102	152083102	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:152083102C>T	ENST00000368804.1	-	2	2590	c.2591G>A	c.(2590-2592)cGa>cAa	p.R864Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	864					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCTTCGCCTCCTCTC	0.627000													22	170					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15697382	15697382	+	Silent	SNP	G	G	T	rs151180279	byFrequency	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:15697382G>T	ENST00000378076.3	-	11	1325	c.972C>A	c.(970-972)acC>acA	p.T324T		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	324					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATACGACAACGGTATATCCAA	0.328000													18	93					1.42536e-11	2.12896e-11	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955528	18955528	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:18955528G>T	ENST00000302797.3	-	1	1028	c.804C>A	c.(802-804)aaC>aaA	p.N268K		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	268					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAATGATGGGGTTGGCACTGC	0.473000													27	25					2.61193e-14	4.12457e-14	1	1	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782890	27782890	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:27782890G>A	ENST00000359465.4	+	1	69	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	23					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						ACAAGGCTCAGAAGAAGGATG	0.493000													17	98					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016632	33016632	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr13:33016632T>C	ENST00000357505.6	-	7	2101	c.1997A>G	c.(1996-1998)gAc>gGc	p.D666G	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.D584G|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.D666G|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.D681G	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCTTGGCTGTCCTCAGCTGG	0.413000													3	6					0	0	1	0	0
OR5T3	390154	broad.mit.edu	37	11	56020552	56020552	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:56020552A>C	ENST00000303059.3	+	1	877	c.877A>C	c.(877-879)Agt>Cgt	p.S293R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TATGAGACCAAGTTCCAGCTA	0.398000													15	85					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31359277	31359277	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:31359277C>T	ENST00000542188.1	-	5	971	c.658G>A	c.(658-660)Gtt>Att	p.V220I	TRPM1_ENST00000397795.2_Missense_Mutation_p.V181I|TRPM1_ENST00000256552.6_Missense_Mutation_p.V203I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	181					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCCTTTCCAACCAGGTCTTCC	0.433000													4	51					0	0	1	0	0
HIST1H3H	8357	broad.mit.edu	37	6	27777978	27777978	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:27777978C>A	ENST00000369163.2	+	1	137	c.127C>A	c.(127-129)Cgg>Agg	p.R43R		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	43					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						CCATCGCTATCGGCCTGGTAC	0.647000													6	55					0.00198382	0.00217386	1	1	0
GPR142	350383	broad.mit.edu	37	17	72368044	72368044	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:72368044C>A	ENST00000335666.4	+	4	742	c.694C>A	c.(694-696)Cgc>Agc	p.R232S		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	232						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GGCTGTGGTGCGCACGGCCAA	0.642000													7	38					1.06961e-07	1.37438e-07	1	1	0
DDX20	11218	broad.mit.edu	37	1	112309250	112309250	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:112309250G>A	ENST00000475700.1	+	3	3386	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	DDX20_ENST00000369702.4_Missense_Mutation_p.R735Q			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	735	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGCAGAGCCGGAGAAACCTA	0.478000													9	45					0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173419	47173419	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:47173419G>T	ENST00000447411.1	-	9	898	c.692C>A	c.(691-693)aCc>aAc	p.T231N	SLC38A4_ENST00000266579.4_Missense_Mutation_p.T231N	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	231					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACCATGCAGGTAAGAGAAAA	0.368000													77	101					1.63053e-22	2.75079e-22	1	1	0
OR2A25	392138	broad.mit.edu	37	7	143771994	143771994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:143771994C>T	ENST00000408898.2	+	1	720	c.682C>T	c.(682-684)Cag>Tag	p.Q228*		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TCTAAAGATCCAGTCAGGAGA	0.483000													7	64					0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39305256	39305256	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:39305256G>T	ENST00000373001.3	-	7	1345	c.1169C>A	c.(1168-1170)aCa>aAa	p.T390K	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	390					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GCCATTGTGTGTCAGCGCTTT	0.542000													6	36					5.4927e-09	7.46689e-09	1	1	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782891	27782891	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:27782891A>T	ENST00000359465.4	+	1	70	c.70A>T	c.(70-72)Aag>Tag	p.K24*		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	24					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CAAGGCTCAGAAGAAGGATGG	0.493000													17	104					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137917892	137917892	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:137917892G>T	ENST00000409968.1	+	6	1657	c.1479G>T	c.(1477-1479)tgG>tgT	p.W493C	THSD7B_ENST00000413152.2_Missense_Mutation_p.W462C|THSD7B_ENST00000272643.3_Missense_Mutation_p.W493C|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTCAGCCTGGGGCCTGTGCA	0.502000													22	34					7.92952e-12	1.1958e-11	1	1	0
SLC29A3	55315	broad.mit.edu	37	10	73122086	73122086	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:73122086G>T	ENST00000373189.5	+	6	1201	c.1149G>T	c.(1147-1149)gtG>gtT	p.V383V	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	383					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CAGGGTTCGTGCTCCTCCGGA	0.617000													53	133					7.41606e-26	1.26477e-25	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92735356	92735356	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:92735356C>A	ENST00000379958.2	-	3	324	c.55G>T	c.(55-57)Gta>Tta	p.V19L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	19	SAM.					cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACTGATTTACATCCTCTTTT	0.318000													12	84					0.000219431	0.000252858	1	1	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607354	26607354	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:26607354G>C	ENST00000270792.5	+	2	1127	c.147G>C	c.(145-147)gaG>gaC	p.E49D	SH3BGRL3_ENST00000319041.6_Missense_Mutation_p.E49D	NM_031286.3	NP_112576.1	Q9H299	SH3L3_HUMAN	SH3 domain binding glutamic acid-rich protein like 3	49	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGGGATGAGATGCGAGCCT	0.627000													13	50					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560102	210560102	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:210560102C>A	ENST00000360351.4	+	7	3714	c.3208C>A	c.(3208-3210)Cta>Ata	p.L1070I	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.L1066I|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1070					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGCAACAGAGCTAAAACTTGA	0.473000													16	85					0.000229342	0.00026363	1	1	0
NTSR2	23620	broad.mit.edu	37	2	11802244	11802244	+	Silent	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:11802244G>C	ENST00000306928.5	-	2	781	c.747C>G	c.(745-747)tcC>tcG	p.S249S		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	249					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GGCTGGGGGTGGAGCTGCCCG	0.612000													37	149					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43098047	43098047	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:43098047G>T	ENST00000244336.5	-	2	171	c.70C>A	c.(70-72)Ctt>Att	p.L24I	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	24					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				AAGGTGAAAAGTGAGGCTAGG	0.473000													41	137					1.05386e-31	1.84425e-31	1	1	0
TFDP1	7027	broad.mit.edu	37	13	114288331	114288331	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr13:114288331G>T	ENST00000375370.5	+	7	813	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	TFDP1_ENST00000538138.1_Nonsense_Mutation_p.E106*|TFDP1_ENST00000544902.1_Nonsense_Mutation_p.E106*	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	201					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CTCGGCTCAGGAATGTCAGAA	0.502000										TSP Lung(29;0.18)			17	91					1.15919e-05	1.40118e-05	1	1	0
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													3	17					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129812438	129812438	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:129812438C>A	ENST00000358825.5	-	7	1080	c.849G>T	c.(847-849)tgG>tgT	p.W283C	PRDM10_ENST00000526082.1_Missense_Mutation_p.W197C|PRDM10_ENST00000360871.3_Missense_Mutation_p.W283C|PRDM10_ENST00000423662.2_Missense_Mutation_p.W197C|PRDM10_ENST00000528746.1_Missense_Mutation_p.W257C|PRDM10_ENST00000304538.6_Missense_Mutation_p.W197C	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	283	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAAACATCATCCAGTTACAAA	0.438000													22	49					4.7796e-09	6.53538e-09	1	1	0
TSNAXIP1	55815	broad.mit.edu	37	16	67860682	67860682	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:67860682G>T	ENST00000388833.3	+	12	1704	c.1327G>T	c.(1327-1329)Gaa>Taa	p.E443*	TSNAXIP1_ENST00000415766.3_Nonsense_Mutation_p.E428*|TSNAXIP1_ENST00000561639.1_Nonsense_Mutation_p.E497*	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	443					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TACTATTTTTGAAAATATCAA	0.488000													18	124					4.35082e-09	5.98397e-09	1	1	0
SUSD3	203328	broad.mit.edu	37	9	95841756	95841756	+	Silent	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:95841756A>T	ENST00000375472.3	+	4	465	c.429A>T	c.(427-429)tcA>tcT	p.S143S	SUSD3_ENST00000375469.1_Silent_p.S130S	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	143						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						CCTCCAGGTCAGCCCAGCTGT	0.607000													4	59					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27407004	27407004	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:27407004G>T	ENST00000379214.4	-	5	856	c.413C>A	c.(412-414)gCc>gAc	p.A138D	LGR4_ENST00000389858.4_Missense_Mutation_p.A114D|LGR4_ENST00000480977.2_Missense_Mutation_p.A90D	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	138						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						AATATGGTTGGCATCTAAACG	0.433000													10	19					3.86212e-05	4.56255e-05	1	1	0
KDM6B	23135	broad.mit.edu	37	17	7749225	7749225	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:7749225C>A	ENST00000254846.5	+	5	562	c.173C>A	c.(172-174)gCt>gAt	p.A58D	KDM6B_ENST00000448097.2_Missense_Mutation_p.A58D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	58	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCGCTTCCTGCTCCCCTACCC	0.542000													11	68					3.45872e-05	4.12758e-05	1	1	0
PRKG1	5592	broad.mit.edu	37	10	53822313	53822313	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:53822313A>T	ENST00000373980.4	+	7	1274	c.857A>T	c.(856-858)gAa>gTa	p.E286V	PRKG1_ENST00000373985.1_Missense_Mutation_p.E259V|PRKG1_ENST00000373975.2_De_novo_Start_InFrame|PRKG1_ENST00000401604.2_Missense_Mutation_p.E271V	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	271					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GTCACTCGTGAAGACTCACCG	0.403000													15	27					0	0	1	0	0
MMP19	4327	broad.mit.edu	37	12	56236563	56236563	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:56236563C>A	ENST00000322569.4	-	1	143	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C	MMP19_ENST00000548629.1_Missense_Mutation_p.G18C|MMP19_ENST00000409200.3_Missense_Mutation_p.G18C|MMP19_ENST00000547487.1_5'UTR	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	18					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGGACCCGGCCTGAGACTGTC	0.637000													6	13					0.27861	0.282832	1	1	0
DPP6	1804	broad.mit.edu	37	7	154667782	154667782	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:154667782G>T	ENST00000404039.1	+	20	2445	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	DPP6_ENST00000377770.3_Nonsense_Mutation_p.E684*|DPP6_ENST00000332007.3_Nonsense_Mutation_p.E622*|DPP6_ENST00000427557.1_Nonsense_Mutation_p.E577*	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	684					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGGCTTGCTGGAGGAGAAGGA	0.692000													3	24					1	1	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105001617	105001617	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:105001617C>T	ENST00000507740.1	+	14	2624	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V	RIMS2_ENST00000436393.2_Silent_p.V782V|RIMS2_ENST00000406091.3_Silent_p.V1004V|RIMS2_ENST00000262231.10_Silent_p.V843V	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1066					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACATCGTGTCATGGATGACC	0.398000										HNSCC(12;0.0054)			31	93					0	0	1	0	0
APEX1	328	broad.mit.edu	37	14	20924924	20924924	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:20924924C>T	ENST00000216714.3	+	4	612	c.344C>T	c.(343-345)tCt>tTt	p.S115F	APEX1_ENST00000398030.4_Missense_Mutation_p.S115F|APEX1_ENST00000557365.1_3'UTR|APEX1_ENST00000555414.1_Missense_Mutation_p.S115F|APEX1_ENST00000557054.1_Intron	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	115					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CCTGGACTCTCTCATCAATAC	0.517000								Other BER factors					11	60					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60499246	60499246	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:60499246C>A	ENST00000371201.3	-	7	1038	c.931G>T	c.(931-933)Gca>Tca	p.A311S	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	311							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTCCTTAGTGCCATCTTCAAA	0.478000													12	80					1.61879e-10	2.34325e-10	1	1	0
INO80D	54891	broad.mit.edu	37	2	206869932	206869932	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:206869932C>A	ENST00000403263.1	-	11	2648	c.2244G>T	c.(2242-2244)ctG>ctT	p.L748L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	748					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCTGCCCTGCCAGGGGTGTAG	0.532000													15	24					1.67942e-08	2.24401e-08	1	1	0
LARS	51520	broad.mit.edu	37	5	145557228	145557228	+	Splice_Site	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:145557228C>G	ENST00000394434.2	-	2	173	c.6_splice	c.e2-1	p.E3_splice	LARS_ENST00000510191.1_Intron|LARS_ENST00000511505.1_5'UTR|LARS_ENST00000274562.9_Splice_Site_p.E3_splice|LARS_ENST00000545646.1_Splice_Site_p.E3_splice	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	3					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCTTTTCTTTCCTATTGGACA	0.383000													6	36					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79193823	79193823	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:79193823C>T	ENST00000269392.4	-	2	281	c.34G>A	c.(34-36)Gag>Aag	p.E12K	AZI1_ENST00000575907.1_Missense_Mutation_p.E12K|AZI1_ENST00000450824.2_Missense_Mutation_p.E12K|AZI1_ENST00000374782.3_Missense_Mutation_p.E12K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	12					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGGCTGCGCTCCGGGACGCTG	0.662000													19	46					0	0	1	0	0
PLEKHH3	79990	broad.mit.edu	37	17	40825722	40825722	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:40825722C>T	ENST00000293349.6	-	4	859	c.429G>A	c.(427-429)ggG>ggA	p.G143G	PLEKHH3_ENST00000412503.1_Silent_p.G143G|PLEKHH3_ENST00000591022.1_Silent_p.G143G|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	143	PH.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCACGAGGCTCCCGAGACGCC	0.697000													7	33					0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30326406	30326406	+	Missense_Mutation	SNP	G	G	C	rs41402346		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:30326406G>C	ENST00000378970.4	-	1	1309	c.1075C>G	c.(1075-1077)Caa>Gaa	p.Q359E	NR0B1_ENST00000378963.1_Missense_Mutation_p.Q64E|NR0B1_ENST00000453287.1_Missense_Mutation_p.Q359E	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	359	Ligand-binding (By similarity).				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	TTGATGGCTTGGACCTGGGAG	0.627000											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	61					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817770	26817770	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:26817770C>T	ENST00000444914.3	+	4	987	c.567C>T	c.(565-567)agC>agT	p.S189S	SLC13A2_ENST00000314669.5_Silent_p.S140S|SLC13A2_ENST00000537681.1_Silent_p.S69S|SLC13A2_ENST00000545060.1_Silent_p.S97S	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	140						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TGTGGATCAGCAACACGGCCA	0.602000													27	73					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	158334247	158334247	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:158334247T>A	ENST00000404321.2	-	1	51	c.52A>T	c.(52-54)Act>Tct	p.T18S	PTPRN2_ENST00000409483.1_Intron|PTPRN2_ENST00000389416.4_Intron|PTPRN2_ENST00000389418.4_Intron|PTPRN2_ENST00000389413.3_Intron			Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	0						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ATCTTCATAGTAGGAAAGCTG	0.498000													26	65					0	0	1	0	0
FAM127A	8933	broad.mit.edu	37	X	134166461	134166461	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:134166461C>T	ENST00000257013.7	+	1	129	c.48C>T	c.(46-48)atC>atT	p.I16I	FAM127A_ENST00000464369.1_3'UTR	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	16										endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTTGCCGATCCGGCCTGCGA	0.652000													18	75					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114120178	114120178	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:114120178C>A	ENST00000357077.4	+	4	350	c.297C>A	c.(295-297)acC>acA	p.T99T	ANK2_ENST00000394537.3_Silent_p.T99T|ANK2_ENST00000506722.1_Silent_p.T78T|ANK2_ENST00000264366.6_Silent_p.T99T	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	99					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGGGAAATACCGCTCTTCACA	0.373000													6	38					0.00307968	0.00334345	1	1	0
KIAA1211	57482	broad.mit.edu	37	4	57181488	57181488	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:57181488C>T	ENST00000504228.1	+	6	1925	c.1820C>T	c.(1819-1821)gCa>gTa	p.A607V	KIAA1211_ENST00000264229.6_Missense_Mutation_p.A607V|KIAA1211_ENST00000541073.1_Missense_Mutation_p.A600V			Q6ZU35	K1211_HUMAN	KIAA1211	607										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGTGGCCCGGCAGTCAACCTG	0.667000													6	44					0	0	1	0	0
TPSD1	23430	broad.mit.edu	37	16	1306326	1306326	+	Silent	SNP	G	G	A	rs151005068	byFrequency	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:1306326G>A	ENST00000211076.3	+	1	193	c.45G>A	c.(43-45)gcG>gcA	p.A15A	TPSD1_ENST00000397534.2_Silent_p.A8A	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	15					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGCTGCTGGCGCTGCCCGTCC	0.701000													11	117					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109734365	109734365	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:109734365C>A	ENST00000369939.3	+	13	1746	c.1563C>A	c.(1561-1563)acC>acA	p.T521T	KIAA1324_ENST00000529753.1_Silent_p.T434T|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	521					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		ATTCTAGGACCAACACTCCTG	0.552000													15	92					1.3612e-06	1.6889e-06	1	1	0
AP5Z1	9907	broad.mit.edu	37	7	4830912	4830912	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:4830912G>A	ENST00000348624.4	+	17	2414	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	AP5Z1_ENST00000490487.1_3'UTR	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	774					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CAGCACGGAGGTGTGCAGCCC	0.697000													9	61					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140530997	140530997	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:140530997C>A	ENST00000231136.1	+	1	1159	c.1159C>A	c.(1159-1161)Ctc>Atc	p.L387I	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L251I	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		387	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAACAATCTCCCCTTTCT	0.458000													7	83					0.000442599	0.000498988	1	1	0
FIP1L1	81608	broad.mit.edu	37	4	54256689	54256689	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:54256689G>T	ENST00000507166.1	+	7	399	c.397_splice	c.e7-1	p.G133_splice	FIP1L1_ENST00000358575.5_Splice_Site_p.G118_splice|FIP1L1_ENST00000507922.1_Splice_Site_p.G118_splice|FIP1L1_ENST00000306932.6_Splice_Site_p.G118_splice|FIP1L1_ENST00000337488.6_Splice_Site_p.G133_splice			Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	133	Necessary for stimulating PAPOLA activity.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATAAAACAGGGACAAAAGTCA	0.373000			T	PDGFRA	idiopathic hypereosinophilic syndrome								6	54					0.000157383	0.000182254	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	131825417	131825417	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:131825417C>T	ENST00000359827.3	-	30	6341	c.5379G>A	c.(5377-5379)tcG>tcA	p.S1793S	PLXNA4_ENST00000321063.4_Silent_p.S1793S			Q9HCM2	PLXA4_HUMAN	plexin A4	1793						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTTGGAGGGCGAGTCCTTGC	0.587000													7	89					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775471	47775471	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:47775471G>T	ENST00000376954.1	+	6	1794	c.1426G>T	c.(1426-1428)Ggg>Tgg	p.G476W	ZNF81_ENST00000338637.7_Missense_Mutation_p.G476W			P51508	ZNF81_HUMAN	zinc finger protein 81	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				CAGTGACTGTGGGAAATCTTT	0.428000													21	68					1.55795e-14	2.4685e-14	1	1	0
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:124857495A>C	ENST00000529051.1	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418000													3	90					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50530877	50530877	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:50530877C>T	ENST00000374144.3	+	3	575	c.287C>T	c.(286-288)gCg>gTg	p.A96V	C10orf71_ENST00000323868.4_Missense_Mutation_p.A96V			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	96								p.A96V(1)		endometrium(1)	1						TCGGGCTGGGCGGCCACCTTC	0.577000													9	135					0	0	1	0	0
HDAC10	83933	broad.mit.edu	37	22	50689324	50689324	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr22:50689324C>G	ENST00000216271.5	-	2	422	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.E24Q|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000448072.1_Missense_Mutation_p.E24Q	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	24	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCTCGATCTCGCACTCGGGG	0.697000													3	24					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158632636	158632636	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:158632636G>T	ENST00000368148.3	-	17	2500	c.2320C>A	c.(2320-2322)Cga>Aga	p.R774R	SPTA1_ENST00000368147.3_Silent_p.R774R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	774					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			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)					GCTTCAAATCGGCATACCAAG	0.478000													28	27					1.45844e-13	2.27245e-13	1	1	0
C5AR1	728	broad.mit.edu	37	19	47824047	47824047	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:47824047C>A	ENST00000355085.3	+	2	1035	c.1013C>A	c.(1012-1014)tCc>tAc	p.S338Y		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	338					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TTCACGCGCTCCACAGTGGAC	0.622000													18	41					7.41877e-09	1.00271e-08	1	1	0
OPCML	4978	broad.mit.edu	37	11	132812837	132812837	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:132812837C>T	ENST00000331898.7	-	1	729	c.151G>A	c.(151-153)Gag>Aag	p.E51K	OPCML_ENST00000529038.1_Intron|OPCML_ENST00000541867.1_Missense_Mutation_p.E51K|OPCML_ENST00000524381.1_Missense_Mutation_p.E44K|OPCML_ENST00000374778.4_Missense_Mutation_p.E10K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	51	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GTGGCGCTCTCCCCCTGCCGG	0.667000													6	47					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80720637	80720637	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:80720637G>A	ENST00000509894.1	+	5	1405	c.576G>A	c.(574-576)aaG>aaA	p.K192K	TTK_ENST00000230510.3_Silent_p.K192K|TTK_ENST00000369798.2_Silent_p.K192K			P33981	TTK_HUMAN	TTK protein kinase	192					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TCCAAAAAAAGCAGCTGCTTT	0.363000													21	54					0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72146375	72146375	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:72146375G>T	ENST00000268482.3	+	27	4172	c.3663G>T	c.(3661-3663)acG>acT	p.T1221T	DHX38_ENST00000536867.1_Silent_p.T533T|PMFBP1_ENST00000537792.1_3'UTR	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1221					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CTCGCCGCACGCCAGCCCGCT	0.622000													12	70					0.00010058	0.00011793	1	1	0
KCNG4	93107	broad.mit.edu	37	16	84270705	84270705	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:84270705G>T	ENST00000568181.1	-	2	507	c.387C>A	c.(385-387)gcC>gcA	p.A129A	KCNG4_ENST00000308251.4_Silent_p.A129A			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	129						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCAGCTTCCCGGCCGCCAGGA	0.637000													7	47					0.000274275	0.000312981	1	1	0
FAM71A	149647	broad.mit.edu	37	1	212798331	212798331	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:212798331G>A	ENST00000294829.3	+	1	543	c.112G>A	c.(112-114)Gat>Aat	p.D38N	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	38										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGGGGAGTACGATATATTCAA	0.483000													6	83					0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141632609	141632609	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:141632609C>T	ENST00000539728.1	+	5	713	c.420C>T	c.(418-420)tgC>tgT	p.C140C	ATP1B3_ENST00000286371.3_Silent_p.C154C|ATP1B3_ENST00000462082.1_Intron			P54709	AT1B3_HUMAN	ATPase, Na+/K+ transporting, beta 3 polypeptide	154					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						TTCAAGCATGCAGTGGTATGA	0.398000													13	117					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901860	52901860	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:52901860G>A	ENST00000354452.3	-	16	2016	c.1405C>T	c.(1405-1407)Cca>Tca	p.P469S	TCF4_ENST00000561831.3_Missense_Mutation_p.P309S|TCF4_ENST00000537578.1_Missense_Mutation_p.P445S|TCF4_ENST00000457482.3_Missense_Mutation_p.P309S|TCF4_ENST00000567880.1_Missense_Mutation_p.P409S|TCF4_ENST00000565018.2_Missense_Mutation_p.P469S|TCF4_ENST00000356073.4_Missense_Mutation_p.P469S|TCF4_ENST00000537856.3_Missense_Mutation_p.P339S|TCF4_ENST00000566286.1_Missense_Mutation_p.P466S|TCF4_ENST00000543082.1_Missense_Mutation_p.P427S|TCF4_ENST00000564228.1_Missense_Mutation_p.P398S|TCF4_ENST00000398339.1_Missense_Mutation_p.P571S|TCF4_ENST00000566279.1_Missense_Mutation_p.P409S|TCF4_ENST00000570287.2_Missense_Mutation_p.P309S|TCF4_ENST00000561992.1_Missense_Mutation_p.P339S|TCF4_ENST00000540999.1_Missense_Mutation_p.P445S|TCF4_ENST00000564403.2_Missense_Mutation_p.P475S|TCF4_ENST00000568740.1_Missense_Mutation_p.P444S|TCF4_ENST00000564999.1_Missense_Mutation_p.P469S|TCF4_ENST00000568673.1_Missense_Mutation_p.P445S|TCF4_ENST00000544241.2_Missense_Mutation_p.P398S|TCF4_ENST00000570177.2_Missense_Mutation_p.P339S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	469					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		ACCTGGTTTGGCAGAAGAGAA	0.607000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	181					0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90903594	90903594	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:90903594G>T	ENST00000354377.3	+	4	717	c.531G>T	c.(529-531)agG>agT	p.R177S	ZNF774_ENST00000379090.5_Intron|ZNF774_ENST00000558115.1_3'UTR	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTGGCGAGAGGCCCTATACGT	0.493000													19	55					2.4624e-09	3.43709e-09	1	1	0
ZMYM1	79830	broad.mit.edu	37	1	35561419	35561419	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:35561419G>T	ENST00000373330.1	+	4	270		c.e4-1		ZMYM1_ENST00000373329.1_Splice_Site|ZMYM1_ENST00000359858.4_Splice_Site			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1							nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				tttCTTTTTAGGAGTATTGTC	0.294000													8	55					0.00448238	0.00483273	1	1	0
FAT3	120114	broad.mit.edu	37	11	92569869	92569869	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:92569869G>T	ENST00000298047.6	+	15	10241	c.10224_splice	c.e15+1	p.R3408_splice	FAT3_ENST00000525166.1_Splice_Site_p.R3258_splice|FAT3_ENST00000409404.2_Splice_Site_p.R3408_splice			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3408	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCGGGAACGGGTAAGCTAGT	0.438000										TCGA Ovarian(4;0.039)			17	21					2.94398e-08	3.90036e-08	1	1	0
MYH7	4625	broad.mit.edu	37	14	23884905	23884905	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:23884905C>A	ENST00000355349.3	-	35	5252	c.5090G>T	c.(5089-5091)cGg>cTg	p.R1697L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1697					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1697P(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCCGGGACCGCTCTGTCTG	0.622000													36	128					9.8876e-21	1.64443e-20	1	1	0
ACSS2	55902	broad.mit.edu	37	20	33464492	33464492	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:33464492G>T	ENST00000360596.2	+	1	255	c.44G>T	c.(43-45)cGg>cTg	p.R15L	ACSS2_ENST00000253382.5_Missense_Mutation_p.R15L|ACSS2_ENST00000476922.1_3'UTR|ACSS2_ENST00000336325.4_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	15					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGCGGGAGCCGGGGCCAGGAG	0.746000													2	2					0.0016	0.00176565	1	1	0
MGAM	8972	broad.mit.edu	37	7	141796147	141796147	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:141796147G>T	ENST00000475668.2	+	65	7678	c.7624G>T	c.(7624-7626)Gtg>Ttg	p.V2542L	MGAM_ENST00000549489.2_Missense_Mutation_p.V1646L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1646					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCAGACCAGGTGACATGGGA	0.572000													14	36					3.51602e-12	5.33661e-12	1	1	0
MYH15	22989	broad.mit.edu	37	3	108224676	108224676	+	Splice_Site	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:108224676C>T	ENST00000273353.3	-	3	205	c.148_splice	c.e3-1	p.G50_splice		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	50	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTTCTTCTTCCCTGTAGAGCA	0.358000													12	88					0	0	1	0	0
LRRC37BP1	147172	broad.mit.edu	37	17	28964257	28964257	+	RNA	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:28964257A>T	ENST00000417404.1	+	0	4515				SMURF2P1_ENST00000578265.1_RNA																							TTCTTCCAAAACGGGTGAATT	0.383000													21	49					0	0	1	0	0
AASDHPPT	60496	broad.mit.edu	37	11	105950307	105950307	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:105950307G>A	ENST00000278618.4	+	2	519	c.297G>A	c.(295-297)tcG>tcA	p.S99S		NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	99					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AGGACTCATCGAATCCTTACC	0.383000													14	55					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248031334	248031334	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:248031334T>A	ENST00000366481.3	+	5	888	c.840T>A	c.(838-840)ccT>ccA	p.P280P	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	280	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTGCATCCCTGGGAGGAGGG	0.502000													12	17					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774025	40774025	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:40774025C>T	ENST00000602553.1	-	5	1544	c.1250G>A	c.(1249-1251)tGt>tAt	p.C417Y	ZNF658_ENST00000441795.1_Missense_Mutation_p.C415Y|ZNF658_ENST00000377626.3_Missense_Mutation_p.C417Y			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGATTTTGCACATTCCTCATA	0.403000													24	150					0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189708	124189708	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:124189708G>T	ENST00000357438.2	-	1	476	c.386C>A	c.(385-387)cCa>cAa	p.P129Q		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		GTAAAGCAGTGGGCGACAGAT	0.438000													32	26					7.11191e-15	1.13452e-14	1	1	0
SLX4	84464	broad.mit.edu	37	16	3639305	3639305	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:3639305C>A	ENST00000294008.3	-	12	4974	c.4334G>T	c.(4333-4335)cGg>cTg	p.R1445L		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1445	Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGGGCCGGTCCGCTCCAGGTT	0.662000								Direct reversal of damage					15	105					6.72482e-11	9.85607e-11	1	1	0
CCDC135	84229	broad.mit.edu	37	16	57735939	57735939	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:57735939G>T	ENST00000360716.3	+	6	817	c.596G>T	c.(595-597)gGc>gTc	p.G199V	CCDC135_ENST00000336825.8_Intron|CCDC135_ENST00000394337.4_Missense_Mutation_p.G199V			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	199						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATGCTTATCGGCTCTGGCTAT	0.582000													17	83					1.99824e-07	2.5329e-07	1	1	0
CWH43	80157	broad.mit.edu	37	4	49005923	49005923	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:49005923T>C	ENST00000226432.4	+	7	1157	c.974T>C	c.(973-975)cTa>cCa	p.L325P	CWH43_ENST00000513409.1_Missense_Mutation_p.L298P	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	325					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTTATCTTCTAGAAATATTT	0.423000													8	38					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53607906	53607906	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:53607906G>T	ENST00000342160.3	-	42	6058	c.5601C>A	c.(5599-5601)atC>atA	p.I1867I	HUWE1_ENST00000262854.6_Silent_p.I1867I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1867					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGATGTAGTTGATCTCCCGAG	0.547000													7	47					0.00307968	0.00334345	1	1	0
DMD	1756	broad.mit.edu	37	X	31462743	31462743	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:31462743G>T	ENST00000357033.4	-	60	9145	c.8937_splice	c.e60-1	p.A2980_splice	DMD_ENST00000378677.2_Splice_Site_p.A2976_splice|DMD_ENST00000378707.3_Splice_Site_p.A520_splice|DMD_ENST00000343523.2_Splice_Site_p.A520_splice|DMD_ENST00000359836.1_Splice_Site_p.A520_splice|DMD_ENST00000474231.1_Splice_Site_p.A520_splice|DMD_ENST00000541735.1_Splice_Site_p.A520_splice	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2980					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTCGAAGTGCCTGTGTGCA	0.448000													8	44					2.17888e-05	2.61354e-05	1	1	0
GLYATL1	92292	broad.mit.edu	37	11	58723476	58723476	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:58723476C>T	ENST00000300079.5	+	7	1028	c.978C>T	c.(976-978)taC>taT	p.Y326Y	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Silent_p.Y295Y	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	295						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGACTTGCTACCCACAGAATC	0.423000													24	40					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44456052	44456052	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:44456052C>T	ENST00000356836.6	+	7	1841	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	B4GALT2_ENST00000309519.7_Missense_Mutation_p.R380W|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R285W|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R351W	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	351					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GGAGGTGTCTCGGCAACCACT	0.557000													44	205					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54669241	54669241	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:54669241C>A	ENST00000376591.4	-	6	1006	c.875G>T	c.(874-876)aGc>aTc	p.S292I	TMC4_ENST00000301187.4_Missense_Mutation_p.S286I|TMC4_ENST00000476013.2_Intron	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	292						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACCCGGTGGCTGTAGCTGGT	0.627000													5	15					0.00116845	0.00129245	1	1	0
MARVELD3	91862	broad.mit.edu	37	16	71663285	71663285	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:71663285G>A	ENST00000565261.1	+	2	366	c.320G>A	c.(319-321)aGa>aAa	p.R107K	MARVELD3_ENST00000567566.1_Silent_p.E161E|MARVELD3_ENST00000567501.1_5'UTR|MARVELD3_ENST00000299952.4_Silent_p.E161E|MARVELD3_ENST00000268485.3_Silent_p.E161E	NM_001271329.1	NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	37	Arg-rich.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CCCCTTCGGAGAGATATCTGC	0.502000													4	60					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767159	77767159	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:77767159G>T	ENST00000521891.2	+	10	8450	c.8002G>T	c.(8002-8004)Gtg>Ttg	p.V2668L	ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2623L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2623L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2642L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2623						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V2652M(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTTCCGGGCGGTGGGTCCAGC	0.547000										HNSCC(33;0.089)			21	95					6.36457e-07	7.95996e-07	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80772170	80772170	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:80772170G>T	ENST00000466387.1	+	14	2078	c.1354G>T	c.(1354-1356)Gcc>Tcc	p.A452S	CTNNA2_ENST00000361291.4_Missense_Mutation_p.A486S|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A452S|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A131S|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A452S|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A452S|CTNNA2_ENST00000402739.4_Missense_Mutation_p.A452S			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	452					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCGGATGGCAGCCACCCAGAT	0.483000													12	47					5.01169e-05	5.90574e-05	1	1	0
RRM1	6240	broad.mit.edu	37	11	4123267	4123267	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:4123267A>T	ENST00000300738.5	+	2	268	c.64A>T	c.(64-66)Atc>Ttc	p.I22F	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	22	ATP-cone.				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TACATCTCGAATCCAGAAGCT	0.323000													28	30					0	0	1	0	0
OR7C1	26664	broad.mit.edu	37	19	14910135	14910135	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:14910135G>T	ENST00000248073.2	-	1	888	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	272					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						GAGGCCACCAGACTTGTCCTA	0.557000													12	68					0.00244969	0.0026781	1	1	0
PCYT1A	5130	broad.mit.edu	37	3	195965673	195965673	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:195965673G>T	ENST00000292823.2	-	10	1162	c.990C>A	c.(988-990)ccC>ccA	p.P330P	PCYT1A_ENST00000419333.1_Silent_p.P330P|PCYT1A_ENST00000431016.1_Silent_p.P330P	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	330	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGAGGGGGAGGGGGAGCGCT	0.607000													32	28					2.70662e-09	3.76678e-09	1	1	0
C1QB	713	broad.mit.edu	37	1	22987744	22987744	+	Silent	SNP	C	C	A	rs149718049	byFrequency	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:22987744C>A	ENST00000509305.1	+	3	967	c.621C>A	c.(619-621)acC>acA	p.T207T	C1QB_ENST00000314933.6_Silent_p.T209T			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	209	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGTCACCACCGGTGGCATGG	0.587000													10	55					0.000673444	0.000752012	1	1	0
ZNF131	7690	broad.mit.edu	37	5	43122172	43122172	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:43122172C>G	ENST00000509634.1	+	1	473	c.17C>G	c.(16-18)aCg>aGg	p.T6R	ZNF131_ENST00000306938.4_Missense_Mutation_p.T6R|ZNF131_ENST00000509156.1_Missense_Mutation_p.T6R|ZNF131_ENST00000505606.2_Missense_Mutation_p.T6R|ZNF131_ENST00000509931.1_Missense_Mutation_p.T6R|ZNF131_ENST00000399534.1_Missense_Mutation_p.T6R			P52739	ZN131_HUMAN	zinc finger protein 131	6						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCTGAAGAGACGATGGAATGC	0.483000													4	15					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7894996	7894996	+	Silent	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:7894996T>C	ENST00000378789.3	-	3	411	c.360A>G	c.(358-360)gaA>gaG	p.E120E		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	120	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGGACCAGCTTCCGCCACTT	0.537000													7	42					0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669421	80669421	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:80669421T>A	ENST00000557010.1	-	4	818	c.433A>T	c.(433-435)Aaa>Taa	p.K145*	DIO2_ENST00000557125.1_Silent_p.A19A|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Nonsense_Mutation_p.K145*|DIO2_ENST00000555750.1_Nonsense_Mutation_p.K181*	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	145					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCCACCAGTTTGCGGAAGGCT	0.562000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	33					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000743	49000743	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:49000743C>A	ENST00000600059.1	-	11	3810	c.3583G>T	c.(3583-3585)Ggg>Tgg	p.G1195W	LMTK3_ENST00000270238.3_Missense_Mutation_p.G1224W					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGGGTCCCCGTCTCCGCTG	0.706000													3	47					0.115264	0.119335	1	1	0
KLHL42	57542	broad.mit.edu	37	12	27951076	27951076	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:27951076C>G	ENST00000381271.2	+	3	1806	c.1495C>G	c.(1495-1497)Ctg>Gtg	p.L499V		NM_020782.1	NP_065833.1			kelch-like family member 42																		TTCTCTTTATCTGCCCAATAA	0.393000													9	85					0	0	1	0	0
RPS10P7	376693	broad.mit.edu	37	1	201489252	201489252	+	RNA	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:201489252C>A	ENST00000441932.1	+	0	1422				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						TCATGGTGGCCAAGAAGGATG	0.547000													7	20					0.00448238	0.00483273	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40727095	40727095	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:40727095G>T	ENST00000373198.3	-	28	4113	c.3878C>A	c.(3877-3879)tCt>tAt	p.S1293Y	PTPRT_ENST00000373184.1_Missense_Mutation_p.S1281Y|PTPRT_ENST00000373187.1_Missense_Mutation_p.S1271Y|PTPRT_ENST00000356100.2_Missense_Mutation_p.S1280Y|PTPRT_ENST00000373190.1_Missense_Mutation_p.S1270Y|PTPRT_ENST00000373193.3_Missense_Mutation_p.S1274Y|PTPRT_ENST00000373201.1_Missense_Mutation_p.S1261Y	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1271	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CATCACCACAGAGGAGCAGTT	0.597000													17	69					1.99824e-07	2.5329e-07	1	1	0
STK31	56164	broad.mit.edu	37	7	23871911	23871911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:23871911G>T	ENST00000354639.3	+	24	3381	c.2917G>T	c.(2917-2919)Gaa>Taa	p.E973*	STK31_ENST00000428484.1_Nonsense_Mutation_p.E973*|STK31_ENST00000433467.2_Nonsense_Mutation_p.E973*|STK31_ENST00000355870.3_Nonsense_Mutation_p.E996*|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	996	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						TAAAAAGGAAGAAGAAATAAA	0.343000													7	97					0.000442599	0.000498988	1	1	0
AKAP17A	8227	broad.mit.edu	37	X	1712782	1712782	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:1712782G>T	ENST00000313871.3	+	2	623	c.427G>T	c.(427-429)Ggg>Tgg	p.G143W	AKAP17A_ENST00000381261.3_Missense_Mutation_p.G143W	NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	143					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	p.G143R(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GACCCTGCCGGGGGAGCGGCC	0.667000													56	192					1.77791e-30	3.07691e-30	1	1	0
NAV3	89795	broad.mit.edu	37	12	78225484	78225484	+	Splice_Site	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:78225484G>A	ENST00000397909.2	+	1	416	c.243_splice	c.e1+1	p.K81_splice	NAV3_ENST00000228327.6_Splice_Site_p.K81_splice|NAV3_ENST00000536525.2_Splice_Site_p.K81_splice|NAV3_ENST00000266692.7_Splice_Site_p.K81_splice			Q8IVL0	NAV3_HUMAN	neuron navigator 3	81	CH.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAGACAGCAAGGTTAGTTGCT	0.408000										HNSCC(70;0.22)			12	22					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1617058	1617058	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:1617058G>T	ENST00000381580.1	-	3	604	c.425C>A	c.(424-426)cCc>cAc	p.P142H	RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.P175H|SIRPG_ENST00000303415.3_Missense_Mutation_p.P175H|SIRPG_ENST00000216927.4_Missense_Mutation_p.P175H			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	175					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GATGTCTCTGGGAGAGAAGCC	0.557000													72	67					1.58458e-29	2.73224e-29	1	1	0
PCF11	51585	broad.mit.edu	37	11	82879626	82879626	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:82879626C>T	ENST00000298281.4	+	8	2701	c.2249C>T	c.(2248-2250)cCg>cTg	p.P750L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	750	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GAAGACAGACCGTTATTTGAT	0.433000													18	98					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	41					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76562701	76562701	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:76562701C>A	ENST00000389840.5	-	11	1688	c.1564G>T	c.(1564-1566)Gca>Tca	p.A522S	DNAH17_ENST00000585328.1_Missense_Mutation_p.A522S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTTACCTTTGCGGAGGACTTG	0.493000													3	17					0.150653	0.154609	1	1	0
BPI	671	broad.mit.edu	37	20	36954764	36954764	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:36954764C>A	ENST00000262865.4	+	10	1192	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	368					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.P368H(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ACCTTCTACCCTGCCGTGGAT	0.582000													17	33					8.10497e-08	1.05297e-07	1	1	0
VSX2	338917	broad.mit.edu	37	14	74726388	74726388	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:74726388C>A	ENST00000261980.2	+	4	753	c.663C>A	c.(661-663)ctC>ctA	p.L221L		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	221	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		AGTATGGGCTCTACGGGGCCA	0.627000													26	137					4.22769e-11	6.21564e-11	1	1	0
ZIM3	114026	broad.mit.edu	37	19	57649911	57649911	+	Missense_Mutation	SNP	C	C	A	rs142799493		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:57649911C>A	ENST00000269834.1	-	3	456	c.71G>T	c.(70-72)cGg>cTg	p.R24L		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGATTCAGCCGCTGCCACTC	0.517000													11	127					7.03913e-09	9.54147e-09	1	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090208	238090208	+	RNA	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:238090208C>A	ENST00000450451.1	+	0	1714					NR_027247.2																						GGGACGATGCCCCCCAAGCTG	0.602000													7	8					1.06961e-07	1.37438e-07	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038489	75038489	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:75038489C>A	ENST00000326665.5	-	14	3123	c.2905G>T	c.(2905-2907)Ggt>Tgt	p.G969C	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	969	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTTCAGAACCGTCCTCTCTC	0.517000													10	49					3.03607e-14	4.77825e-14	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38620985	38620985	+	Splice_Site	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:38620985T>C	ENST00000413689.1	-	18	3423	c.3228_splice	c.e18-1	p.Q1077_splice	SCN5A_ENST00000449557.2_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000425664.1_Splice_Site_p.Q1077_splice|SCN5A_ENST00000333535.4_Splice_Site_p.Q1077_splice|SCN5A_ENST00000455624.2_Splice_Site|SCN5A_ENST00000443581.1_Splice_Site|SCN5A_ENST00000414099.2_Splice_Site_p.Q1077_splice|SCN5A_ENST00000423572.2_Splice_Site	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1077					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGATTCCTGCTGAAAAGA	0.652000													5	23					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43497769	43497769	+	Silent	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:43497769A>G	ENST00000282041.5	-	17	3148	c.3114T>C	c.(3112-3114)tgT>tgC	p.C1038C		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1038					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCCTTCTGCACAGAACTTCT	0.413000													22	46					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176824890	176824890	+	Missense_Mutation	SNP	C	C	A	rs148272921		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:176824890C>A	ENST00000324417.5	+	13	1614	c.1523C>A	c.(1522-1524)aCg>aAg	p.T508K	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	508					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAAACGCACGGCCAAGTAC	0.597000													20	93					8.04996e-18	1.31091e-17	1	1	0
NID1	4811	broad.mit.edu	37	1	236201526	236201526	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:236201526T>A	ENST00000264187.6	-	5	1245	c.1163A>T	c.(1162-1164)cAg>cTg	p.Q388L	NID1_ENST00000366595.3_Missense_Mutation_p.Q388L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	388	EGF-like 1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGCACACGTCTGGCGGGAATC	0.547000													8	130					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651902	121651902	+	Missense_Mutation	SNP	G	G	T	rs148162051		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:121651902G>T	ENST00000393386.2	+	12	3213	c.2802G>T	c.(2800-2802)gaG>gaT	p.E934D	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	934					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTGATAATGAGGGCTCCCAAC	0.463000													11	61					0.0242445	0.025381	1	1	0
LRRFIP1	9208	broad.mit.edu	37	2	238647925	238647925	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:238647925G>T	ENST00000308482.9	+	11	675	c.606G>T	c.(604-606)agG>agT	p.R202S	LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	73					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CCTCCTCCAGGGCCAGCTCGG	0.657000													4	5					0.000602214	0.000674078	1	1	0
C6orf222	389384	broad.mit.edu	37	6	36291241	36291241	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:36291241C>T	ENST00000437635.2	-	8	1477	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	434										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GACCTTTTTTCTTGAGATTTC	0.562000													21	107					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538825	27538825	+	RNA	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:27538825G>C	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							ACATTAGGGAGCTCTGGAGTC	0.532000													22	135					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506616	48506616	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:48506616G>T	ENST00000435803.1	+	44	12903	c.12879G>T	c.(12877-12879)ttG>ttT	p.L4293F	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4293					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCAAGATTTGCCCTGTGCAG	0.488000													18	227					3.5997e-14	5.64635e-14	1	1	0
ZNF420	147923	broad.mit.edu	37	19	37619305	37619305	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:37619305G>T	ENST00000337995.3	+	5	1627	c.1412G>T	c.(1411-1413)gGt>gTt	p.G471V	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Splice_Site	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCACACAGGTGAGAAACCC	0.403000													12	47					9.05144e-12	1.36062e-11	1	1	0
CADPS	8618	broad.mit.edu	37	3	62502286	62502286	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:62502286G>A	ENST00000383710.4	-	15	2775	c.2426C>T	c.(2425-2427)gCt>gTt	p.A809V	CADPS_ENST00000283269.9_Missense_Mutation_p.A809V|CADPS_ENST00000357948.3_Missense_Mutation_p.A792V	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	809	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGCTTTCAAAGCACCTTCAGG	0.313000													15	53					0	0	1	0	0
GALNS	2588	broad.mit.edu	37	16	88907478	88907478	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:88907478C>A	ENST00000268695.5	-	4	432	c.344G>T	c.(343-345)gGc>gTc	p.G115V	GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Missense_Mutation_p.G40V	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	115						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TGGGATGCCGCCCACAATCTC	0.627000													6	56					5.18039e-06	6.32709e-06	1	1	0
MAGEB2	4113	broad.mit.edu	37	X	30237132	30237132	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:30237132C>A	ENST00000378988.4	+	2	536	c.435C>A	c.(433-435)ttC>ttA	p.F145L		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	145	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GCAAAAGGTTCAGGGAGCACT	0.463000													3	21					0.00024832	0.000284054	1	1	0
TRBV11-2	28581	broad.mit.edu	37	7	142198050	142198050	+	RNA	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:142198050C>T	ENST00000471935.1	-	0	19																											CAATCAGGGTCACTGTGAGCA	0.567000													20	21					0	0	1	0	0
MT-ND5	4540	broad.mit.edu	37	MT	13052	13052	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrM:13052G>A	ENST00000361567.2	+	1	716	c.716G>A	c.(715-717)gGc>gAc	p.G239D				P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	239					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74					NADH(DB00157)	AGCCATAGAAGGCCCCACCCC	0.552000													16	149					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135771987	135771987	+	Missense_Mutation	SNP	C	C	T	rs118203743		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:135771987C>T	ENST00000298552.3	-	23	3351	c.3130G>A	c.(3130-3132)Gag>Aag	p.E1044K	TSC1_ENST00000545250.1_Missense_Mutation_p.E993K|TSC1_ENST00000440111.2_Missense_Mutation_p.E1044K	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1044					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GTAGAAAGCTCgctgctgctg	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				3	24					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25456807	25456807	+	RNA	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:25456807C>A	ENST00000424208.1	+	0	2438				SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						TGGCAAGTGTCCGTCAGCCAG	0.597000													6	11					0.217242	0.221493	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9438063	9438063	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:9438063G>T	ENST00000378501.2	+	30	2978	c.2963G>T	c.(2962-2964)gGa>gTa	p.G988V	PLCB4_ENST00000378473.3_Missense_Mutation_p.G1000V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Missense_Mutation_p.G1000V|PLCB4_ENST00000334005.3_Missense_Mutation_p.G988V|PLCB4_ENST00000278655.4_Missense_Mutation_p.G988V|PLCB4_ENST00000378493.1_Missense_Mutation_p.G988V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	988					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTTCAGGGGAAGTAATTGT	0.348000													9	56					0.0135373	0.0143642	1	1	0
USH2A	7399	broad.mit.edu	37	1	216371664	216371664	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:216371664T>A	ENST00000366943.2	-	18	4460	c.4074A>T	c.(4072-4074)ggA>ggT	p.G1358G	USH2A_ENST00000366942.3_Silent_p.G1358G|USH2A_ENST00000307340.3_Silent_p.G1358G|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1358					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACCTGATTCTCCCGTTCTTT	0.388000										HNSCC(13;0.011)			37	62					0	0	1	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107179007	107179007	+	RNA	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:107179007C>A	ENST00000390634.2	-	0	245																											CTGACGGATCCAGCTCACACA	0.547000													5	120					0.00198382	0.00217386	1	1	0
PCDHGC4	56098	broad.mit.edu	37	5	140866446	140866446	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:140866446G>T	ENST00000306593.1	+	1	1706	c.1706G>T	c.(1705-1707)cGg>cTg	p.R569L	PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.R569L(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGTCCTCGGGCCCGGCCT	0.572000													21	95					4.72057e-08	6.16699e-08	1	1	0
SP4	6671	broad.mit.edu	37	7	21516848	21516848	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:21516848T>A	ENST00000222584.3	+	4	2048	c.1830T>A	c.(1828-1830)tcT>tcA	p.S610S		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	610					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						AGCAGACTTCTGATCAAGAGG	0.468000													5	44					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57103246	57103246	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:57103246T>C	ENST00000439986.4	-	11	1152	c.1115A>G	c.(1114-1116)cAg>cGg	p.Q372R	CCBE1_ENST00000398179.2_Missense_Mutation_p.Q101R	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	372					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGGAAATTCCTGAGGTAAAGG	0.527000													55	109					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195507717	195507717	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:195507717G>T	ENST00000463781.3	-	2	11193	c.10734C>A	c.(10732-10734)tcC>tcA	p.S3578S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S3578S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	376					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S3578S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTGTGGATACTGAGG	0.587000													3	0					1	1	1	1	0
SMO	6608	broad.mit.edu	37	7	128852167	128852167	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:128852167C>A	ENST00000249373.3	+	12	2519	c.2239C>A	c.(2239-2241)Cca>Aca	p.P747T	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	747					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTCAGGATCCATTTCTGCC	0.662000			Mis		skin basal cell								6	38					2.7689e-08	3.67879e-08	1	1	0
ASPM	259266	broad.mit.edu	37	1	197070794	197070794	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:197070794T>A	ENST00000367409.4	-	18	7843	c.7587A>T	c.(7585-7587)agA>agT	p.R2529S	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2529					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATGCCATTGTCTGATATAAT	0.328000													41	57					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100674989	100674989	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:100674989G>T	ENST00000306151.4	+	3	356	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	98	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)					TGAGTCCAGTGTGACTTCAGA	0.493000													11	71					4.36969e-10	6.21026e-10	1	1	0
ZNF611	81856	broad.mit.edu	37	19	53209890	53209890	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:53209890C>A	ENST00000543227.1	-	6	692	c.418G>T	c.(418-420)Gac>Tac	p.D140Y	ZNF611_ENST00000595798.1_Missense_Mutation_p.D71Y|ZNF611_ENST00000600943.1_3'UTR|ZNF611_ENST00000602162.1_Missense_Mutation_p.D71Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.D140Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.D140Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.D71Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TCATGTTGGTCTGTGCTACCA	0.383000													26	160					1.99505e-19	3.29465e-19	1	1	0
LYST	1130	broad.mit.edu	37	1	235922757	235922757	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:235922757T>A	ENST00000389794.3	-	23	6570	c.6396A>T	c.(6394-6396)ttA>ttT	p.L2132F	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.L2132F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2132					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATATTTTGTAACCTGTCGA	0.408000													9	132					0	0	1	0	0
LYZL6	57151	broad.mit.edu	37	17	34264904	34264904	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:34264904A>T	ENST00000585556.1	-	3	490	c.156T>A	c.(154-156)ttT>ttA	p.F52L	LYZL6_ENST00000394523.3_Missense_Mutation_p.F52L|LYZL6_ENST00000293274.4_Missense_Mutation_p.F52L			O75951	LYZL6_HUMAN	lysozyme-like 6	52					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCTTTCCACAAAAGCCAGGC	0.468000													17	22					0	0	1	0	0
KAZALD1	81621	broad.mit.edu	37	10	102824275	102824275	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:102824275G>C	ENST00000370200.5	+	4	1016	c.690G>C	c.(688-690)caG>caC	p.Q230H		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	230	Ig-like C2-type.				cell differentiation|multicellular organismal development|ossification|regulation of cell growth		insulin-like growth factor binding			endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GTGGACCCCAGAGGTTTGAGG	0.632000													10	81					0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626567	142626567	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:142626567G>C	ENST00000265310.1	-	4	791	c.443C>G	c.(442-444)aCa>aGa	p.T148R	TRPV5_ENST00000442623.1_Missense_Mutation_p.T148R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	148					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGCAGTGCCTGTGGCTCTGGC	0.617000													28	83					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455305	187455305	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:187455305G>T	ENST00000307161.5	-	2	792	c.591C>A	c.(589-591)ctC>ctA	p.L197L	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	197					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TCATGGGGACGAGGAAGTGGA	0.547000													21	108					9.57634e-11	1.39481e-10	1	1	0
FAT1	2195	broad.mit.edu	37	4	187539051	187539051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:187539051G>A	ENST00000441802.2	-	10	8898	c.8689C>T	c.(8689-8691)Cag>Tag	p.Q2897*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2897	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGGATAGCTGGATCTTTTCA	0.448000										HNSCC(5;0.00058)			10	42					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100390952	100390952	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:100390952T>G	ENST00000281806.2	-	4	774	c.460A>C	c.(460-462)Aat>Cat	p.N154H	MCHR2_ENST00000369212.1_Missense_Mutation_p.N154H|MCHR2_ENST00000445970.1_Missense_Mutation_p.N154H	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	154						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGCCCAAATTGATCCGGATG	0.473000													42	90					0	0	1	0	0
PPM1D	8493	broad.mit.edu	37	17	58678246	58678246	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:58678246G>T	ENST00000305921.3	+	1	703	c.472_splice	c.e1+1	p.L157_splice		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	157	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGAAGAAACTGGGTAAGTTCC	0.597000											OREG0024626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	61					2.17888e-05	2.61354e-05	1	1	0
RNF213	57674	broad.mit.edu	37	17	78359384	78359384	+	Silent	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:78359384C>G	ENST00000582970.1	+	61	14645	c.14502C>G	c.(14500-14502)tcC>tcG	p.S4834S	CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Silent_p.S4883S|RNF213_ENST00000336301.6_Silent_p.S2907S|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	1200										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCTTTCTGTCCACATGGAACA	0.498000													8	42					0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85506695	85506695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:85506695G>A	ENST00000370587.1	-	4	770	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	MCOLN3_ENST00000370589.2_Nonsense_Mutation_p.Q132*|MCOLN3_ENST00000341115.4_Intron|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	132						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTTACCTGGTTTACTGCG	0.383000													20	125					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31132293	31132293	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:31132293C>T	ENST00000304166.4	+	13	1279	c.990C>T	c.(988-990)atC>atT	p.I330I	ADCYAP1R1_ENST00000409363.1_Silent_p.I309I|ADCYAP1R1_ENST00000396211.2_Silent_p.I330I|ADCYAP1R1_ENST00000409489.1_Silent_p.I330I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	330					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TTATCGTCATCCTTGTGCAGA	0.428000													13	91					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129464	83129464	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:83129464C>T	ENST00000329312.4	+	4	1785	c.1748C>T	c.(1747-1749)tCc>tTc	p.S583F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	583					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGAATGTCATCCAAAAAGACT	0.403000													10	22					0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488346	44488346	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:44488346C>G	ENST00000425708.2	-	7	3158	c.2817G>C	c.(2815-2817)ttG>ttC	p.L939F	ZNF445_ENST00000396077.2_Missense_Mutation_p.L939F			P59923	ZN445_HUMAN	zinc finger protein 445	939					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCTGTAATCTCAACTTTGTGT	0.527000													6	37					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228025	3228025	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:3228025G>T	ENST00000217939.6	-	7	8373	c.8219C>A	c.(8218-8220)aCc>aAc	p.T2740N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2740	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GATGACCGGGGTGGGCTCGCT	0.587000													8	73					7.48243e-07	9.30838e-07	1	1	0
OVGP1	5016	broad.mit.edu	37	1	111958974	111958974	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:111958974T>A	ENST00000369732.3	-	10	1182	c.1127A>T	c.(1126-1128)tAc>tTc	p.Y376F	OVGP1_ENST00000540696.1_3'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	376					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATTCAATACGTAGACAAGGGG	0.532000													15	51					0	0	1	0	0
C9orf64	84267	broad.mit.edu	37	9	86554606	86554606	+	Silent	SNP	C	C	A	rs112943333	byFrequency	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:86554606C>A	ENST00000376344.3	-	4	1062	c.846G>T	c.(844-846)tcG>tcT	p.S282S	C9orf64_ENST00000314700.1_Silent_p.S141S	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	282										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CACACCAAAGCGAGCACCCTC	0.413000													9	97					3.07112e-06	3.78046e-06	1	1	0
OR2A25	392138	broad.mit.edu	37	7	143771644	143771644	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:143771644G>T	ENST00000408898.2	+	1	370	c.332G>T	c.(331-333)tGt>tTt	p.C111F		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CATACAGAATGTCTCCTCCTG	0.512000													12	79					4.3838e-07	5.52689e-07	1	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33588887	33588887	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:33588887G>A	ENST00000504830.1	-	18	3017	c.2682C>T	c.(2680-2682)tgC>tgT	p.C894C	ADAMTS12_ENST00000352040.3_Silent_p.C809C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	894	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATGTCGCCGAGCATGCTTCCC	0.587000										HNSCC(64;0.19)	OREG0016553	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	45					0	0	1	0	0
FCGR3A	2214	broad.mit.edu	37	1	161518266	161518266	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:161518266C>A	ENST00000367969.3	-	3	555	c.372G>T	c.(370-372)agG>agT	p.R124S	FCGR3A_ENST00000476031.1_5'UTR|FCGR3A_ENST00000540048.1_Missense_Mutation_p.R88S|FCGR3A_ENST00000443193.1_Missense_Mutation_p.R123S|FCGR3A_ENST00000436743.1_Missense_Mutation_p.R88S	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	88	Ig-like C2-type 2.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGTCTGGCACCTGTACTCTC	0.512000													25	322					4.59853e-10	6.51574e-10	1	1	0
GGT7	2686	broad.mit.edu	37	20	33447401	33447401	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:33447401G>A	ENST00000336431.5	-	7	903	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	287					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.R287C(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCCGGAAGCGCTCGGACATG	0.687000													6	21					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508196	71508196	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:71508196A>T	ENST00000396073.3	+	9	1334	c.1053A>T	c.(1051-1053)agA>agT	p.R351S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	351					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTTTACAGAAATCAACAAG	0.413000													22	96					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141770880	141770880	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:141770880C>T	ENST00000475668.2	+	44	5202	c.5148C>T	c.(5146-5148)atC>atT	p.I1716I	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1716	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGGCTACATCCTGCCCTGGC	0.488000													9	38					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51072653	51072653	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:51072653A>T	ENST00000301180.5	+	8	1142	c.1108A>T	c.(1108-1110)Aca>Tca	p.T370S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	370						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTACACTCTTACATATGGTGA	0.468000													20	17					0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3301408	3301408	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:3301408G>A	ENST00000322608.2	-	1	296	c.297C>T	c.(295-297)acC>acT	p.T99T		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						AGTACATTTGGGTCAGGCAGT	0.527000													19	37					0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818294	166818294	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:166818294G>C	ENST00000367875.1	+	5	838	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	POGK_ENST00000367876.4_Missense_Mutation_p.E160Q|POGK_ENST00000537173.1_Missense_Mutation_p.E42Q|POGK_ENST00000536514.1_Missense_Mutation_p.E75Q			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	160					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						GGATATCACAGAGCTGCCCGA	0.557000													44	54					0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1742030	1742030	+	Splice_Site	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:1742030A>T	ENST00000381241.3	+	2	268		c.e2-1		ASMT_ENST00000381233.3_Splice_Site|ASMT_ENST00000381229.4_Splice_Site	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase						melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCCTGCTCCAAGGTTCTCTTC	0.617000													10	73					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85623399	85623399	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:85623399G>A	ENST00000393217.2	+	25	4988	c.4927G>A	c.(4927-4929)Gaa>Aaa	p.E1643K	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1643										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGGGGTTCATGAAACGACTAG	0.348000													22	55					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2797691	2797691	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:2797691C>A	ENST00000399655.1	+	46	6128	c.5863C>A	c.(5863-5865)Cca>Aca	p.P1955T	CACNA1C_ENST00000335762.5_Missense_Mutation_p.P1980T|CACNA1C_ENST00000399595.1_Missense_Mutation_p.P1963T|CACNA1C_ENST00000399641.1_Missense_Mutation_p.P1955T|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.P2026T|CACNA1C_ENST00000399637.1_Missense_Mutation_p.P1974T|CACNA1C_ENST00000399629.1_Missense_Mutation_p.P1972T|CACNA1C_ENST00000347598.4_Missense_Mutation_p.P2003T|CACNA1C_ENST00000399638.1_Missense_Mutation_p.P1983T|CACNA1C_ENST00000399603.1_Missense_Mutation_p.P1955T|CACNA1C_ENST00000399621.1_Missense_Mutation_p.P1974T|CACNA1C_ENST00000399634.1_Missense_Mutation_p.P2026T|CACNA1C_ENST00000399644.1_Missense_Mutation_p.P1955T|CACNA1C_ENST00000402845.3_Missense_Mutation_p.P1974T|CACNA1C_ENST00000399649.1_Missense_Mutation_p.P1961T|CACNA1C_ENST00000399606.1_Missense_Mutation_p.P1975T|CACNA1C_ENST00000344100.3_Missense_Mutation_p.P1996T|CACNA1C_ENST00000399591.1_Missense_Mutation_p.P1963T|CACNA1C_ENST00000399617.1_Missense_Mutation_p.P1990T|CACNA1C_ENST00000327702.7_Missense_Mutation_p.P1990T|CACNA1C_ENST00000399601.1_Missense_Mutation_p.P1955T|CACNA1C_ENST00000399597.1_Missense_Mutation_p.P1955T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2038					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTTTGCCACCCCACCAGCCAC	0.652000													37	92					2.52449e-32	4.4344e-32	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113249435	113249435	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:113249435C>G	ENST00000297405.5	-	67	10855	c.10611G>C	c.(10609-10611)atG>atC	p.M3537I	CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGCAGCTCCATGTTGCTAT	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			39	111					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510942	26510942	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:26510942G>T	ENST00000531191.1	+	11	1284	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S	CNKSR1_ENST00000361530.6_Missense_Mutation_p.A351S|CNKSR1_ENST00000374253.5_Missense_Mutation_p.A358S			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	358	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GGAACCCCCAGCCATACTCCC	0.642000													4	19					3.59834e-05	4.2833e-05	1	1	0
PKM	5315	broad.mit.edu	37	15	72499184	72499184	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:72499184C>A	ENST00000319622.6	-	8	1481	c.1025G>T	c.(1024-1026)cGg>cTg	p.R342L	PKM_ENST00000389093.3_Missense_Mutation_p.R342L|PKM_ENST00000335181.5_Missense_Mutation_p.R342L|PKM_ENST00000568883.1_Missense_Mutation_p.R177L|PKM_ENST00000568459.1_Missense_Mutation_p.R342L|PKM_ENST00000449901.2_Missense_Mutation_p.R327L|PKM_ENST00000565154.1_Missense_Mutation_p.R342L|PKM_ENST00000565184.1_Missense_Mutation_p.R342L	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						GCCTTCAGCCCGAGTGGGGCG	0.552000													8	49					0.00307968	0.00334345	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50953988	50953988	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:50953988G>T	ENST00000374103.4	-	11	1417	c.1332C>A	c.(1330-1332)tcC>tcA	p.S444S	OGDHL_ENST00000432695.1_Silent_p.S235S|OGDHL_ENST00000419399.1_Silent_p.S387S	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	444					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTATGGTGAGGAGCGGGCCA	0.562000													32	67					1.49673e-21	2.50703e-21	1	1	0
PCBP1	5093	broad.mit.edu	37	2	70315921	70315921	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:70315921C>T	ENST00000303577.5	+	1	1337	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	349					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						AGGCTTTCCTCTGAGAAGGGC	0.507000													5	37					0	0	1	0	0
GATA6	2627	broad.mit.edu	37	18	19751457	19751457	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr18:19751457C>T	ENST00000269216.3	+	2	629	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	GATA6_ENST00000581694.1_Missense_Mutation_p.L118F	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	118					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GTTCACTGACCTCGACCAAGC	0.697000													9	37					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47933635	47933635	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:47933635C>T	ENST00000289672.2	-	15	2343	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	765	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGCTGTACACCACACTGCCT	0.562000													32	79					0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6697035	6697035	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:6697035C>T	ENST00000309577.6	-	24	3709	c.3546G>A	c.(3544-3546)gaG>gaA	p.E1182E	CHD4_ENST00000357008.2_Silent_p.E1182E|CHD4_ENST00000544484.1_Silent_p.E1179E|CHD4_ENST00000544040.1_Silent_p.E1175E			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1182	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GCGTGATGCGCTCCTCCACTG	0.517000													16	63					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318971	21318971	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:21318971C>A	ENST00000583088.1	+	3	1212	c.317C>A	c.(316-318)gCg>gAg	p.A106E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A106E	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		TGGGTCATCGCGGTGGCACAC	0.637000										Prostate(3;0.18)			5	41					5.18039e-06	6.32709e-06	1	1	0
KCNK13	56659	broad.mit.edu	37	14	90650633	90650633	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:90650633G>T	ENST00000282146.4	+	2	954	c.513G>T	c.(511-513)ctG>ctT	p.L171L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	171						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GAGGGGCCCTGCCCCAGGAGA	0.612000													34	64					7.61165e-28	1.30764e-27	1	1	0
KIR2DL4	3805	broad.mit.edu	37	19	55316331	55316331	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:55316331C>G	ENST00000396284.2	+	3	154	c.154C>G	c.(154-156)Cgt>Ggt	p.R52G	KIR2DL4_ENST00000357494.4_Missense_Mutation_p.R54G|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.R54G|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.R54G|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4									p.R54S(1)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GTGTCACTATCGTCGTGGGTT	0.532000													37	30					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64940675	64940675	+	Missense_Mutation	SNP	G	G	A	rs114694017	byFrequency	TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:64940675G>A	ENST00000377185.2	+	7	951	c.869G>A	c.(868-870)cGc>cAc	p.R290H		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	290					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCTCCGGCACGCCCTGGGCAC	0.637000													12	67					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	rs121913358		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373000	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				41	93					0	0	1	0	0
ICOSLG	23308	broad.mit.edu	37	21	45658372	45658372	+	Splice_Site	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr21:45658372C>A	ENST00000407780.3	-	2	142		c.e2-1		ICOSLG_ENST00000400377.3_Splice_Site|ICOSLG_ENST00000400379.3_Splice_Site|ICOSLG_ENST00000344330.4_Splice_Site			O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CAGTCCAGGACTGGAAAAAAC	0.577000													12	19					9.31168e-06	1.12847e-05	1	1	0
TTC25	83538	broad.mit.edu	37	17	40095231	40095231	+	RNA	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:40095231C>T	ENST00000591658.1	+	0	932							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				TCACAAGTGGCAGTGCTGAAG	0.517000													3	12					0	0	1	0	0
CIAPIN1	57019	broad.mit.edu	37	16	57473150	57473150	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:57473150C>A	ENST00000394391.4	-	3	495	c.254G>T	c.(253-255)cGg>cTg	p.R85L	CIAPIN1_ENST00000569370.1_Missense_Mutation_p.R85L|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.R85L|CIAPIN1_ENST00000565961.1_Missense_Mutation_p.R85L|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.R72L|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.R85L	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	85					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCGAAGGATCCGGGCGATTTC	0.478000													33	191					2.52637e-11	3.76149e-11	1	1	0
CDH9	1007	broad.mit.edu	37	5	26915868	26915868	+	Silent	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:26915868T>A	ENST00000231021.4	-	3	565	c.393A>T	c.(391-393)atA>atT	p.I131I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	131	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTTCTGTCTATAGCCTTGG	0.363000													14	181					0	0	1	0	0
RPE65	6121	broad.mit.edu	37	1	68895532	68895532	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:68895532A>G	ENST00000262340.5	-	14	1582	c.1529T>C	c.(1528-1530)tTa>tCa	p.L510S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	510					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACTTCACTTAAGTCCTTGGC	0.443000													13	46					0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148695460	148695460	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:148695460G>T	ENST00000296721.4	+	10	1195	c.1097G>T	c.(1096-1098)cGg>cTg	p.R366L	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R366L	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	366							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGCCGCCGGGAGACCTGT	0.632000													7	42					1.06961e-07	1.37438e-07	1	1	0
RPH3A	22895	broad.mit.edu	37	12	113328777	113328777	+	Missense_Mutation	SNP	G	G	T	rs140115309		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:113328777G>T	ENST00000389385.4	+	19	2241	c.1744G>T	c.(1744-1746)Gct>Tct	p.A582S	RPH3A_ENST00000420983.2_Missense_Mutation_p.A582S|RPH3A_ENST00000415485.3_Missense_Mutation_p.A582S|RPH3A_ENST00000543106.2_Missense_Mutation_p.A582S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.A533S|RPH3A_ENST00000447659.2_Missense_Mutation_p.A533S|RPH3A_ENST00000551052.1_Missense_Mutation_p.A578S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	582	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.A578T(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGCCATGGACGCTAATGGCTA	0.577000													12	25					1.02788e-11	1.54018e-11	1	1	0
SEL1L2	80343	broad.mit.edu	37	20	13971166	13971166	+	Silent	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:13971166A>G	ENST00000284951.5	-	1	89	c.15T>C	c.(13-15)tcT>tcC	p.S5S	SEL1L2_ENST00000378072.5_Silent_p.S5S|SEL1L2_ENST00000486903.1_Intron			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	5						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTATTAACAGAGACAAGGGCT	0.418000													13	96					0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775472	47775472	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:47775472G>T	ENST00000376954.1	+	6	1795	c.1427G>T	c.(1426-1428)gGg>gTg	p.G476V	ZNF81_ENST00000338637.7_Missense_Mutation_p.G476V			P51508	ZNF81_HUMAN	zinc finger protein 81	476						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGTGACTGTGGGAAATCTTTC	0.433000													21	68					1.55795e-14	2.4685e-14	1	1	0
GRK6	2870	broad.mit.edu	37	5	176857961	176857961	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:176857961C>T	ENST00000355472.5	+	2	309	c.141C>T	c.(139-141)ctC>ctT	p.L47L	GRK6_ENST00000528793.1_Silent_p.L47L|GRK6_ENST00000355958.5_Silent_p.L47L|GRK6_ENST00000507633.1_Silent_p.L47L|GRK6_ENST00000393576.3_Silent_p.L47L	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	47	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGCGGCTCAGCCTCGGTG	0.662000													9	22					0	0	1	0	0
AQP11	282679	broad.mit.edu	37	11	77301178	77301178	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:77301178C>T	ENST00000313578.3	+	1	499	c.141C>T	c.(139-141)ttC>ttT	p.F47F	AQP11_ENST00000528638.1_Intron	NM_173039.2	NP_766627.1	Q8NBQ7	AQP11_HUMAN	aquaporin 11	47						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			CCCACGCCTTCGTCCTGGAGT	0.682000													6	20					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3205972	3205972	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:3205972C>T	ENST00000246117.4	+	10	1675	c.1244C>T	c.(1243-1245)aCg>aTg	p.T415M	NCLN_ENST00000590671.1_Missense_Mutation_p.T341M	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	415					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCGTAACACGAGGATCATT	0.552000													24	231					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70931986	70931986	+	Silent	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:70931986G>T	ENST00000334414.6	-	28	5939	c.5895C>A	c.(5893-5895)tcC>tcA	p.S1965S	PTPRB_ENST00000550857.1_Silent_p.S1657S|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.S1877S|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Silent_p.S1657S|PTPRB_ENST00000451516.2_Silent_p.S1657S|PTPRB_ENST00000261266.5_Silent_p.S1747S	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1747					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CATCTACATTGGAGAGCTTCA	0.478000													23	60					2.4375e-19	4.01118e-19	1	1	0
PSAT1	29968	broad.mit.edu	37	9	80919757	80919757	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:80919757G>T	ENST00000376588.3	+	4	366	c.298G>T	c.(298-300)Gac>Tac	p.D100Y	PSAT1_ENST00000347159.2_Missense_Mutation_p.D100Y	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	100			D -> A (in PSATD; reduced Vmax).		L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	AAGGTGTGCTGACTATGTGGT	0.478000													21	87					1.10513e-12	1.69382e-12	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124377677	124377677	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:124377677T>A	ENST00000368909.3	+	38	4755	c.4649T>A	c.(4648-4650)cTg>cAg	p.L1550Q	DMBT1_ENST00000344338.3_Missense_Mutation_p.L1540Q|DMBT1_ENST00000368955.3_Missense_Mutation_p.L1540Q|DMBT1_ENST00000359586.6_Missense_Mutation_p.L401Q|DMBT1_ENST00000338354.3_Missense_Mutation_p.L1550Q|DMBT1_ENST00000330163.4_Missense_Mutation_p.L922Q|DMBT1_ENST00000368956.2_Missense_Mutation_p.L922Q	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1550	SRCR 12.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCAGGCAGCTGGGCTGTGGC	0.607000													30	490					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173344428	173344428	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:173344428T>G	ENST00000375221.2	+	11	1768	c.1565T>G	c.(1564-1566)cTc>cGc	p.L522R	ITGA6_ENST00000409532.1_Missense_Mutation_p.L364R|ITGA6_ENST00000409080.1_Missense_Mutation_p.L483R|ITGA6_ENST00000343713.4_Missense_Mutation_p.L478R|ITGA6_ENST00000264106.6_Missense_Mutation_p.L522R|ITGA6_ENST00000264107.7_Missense_Mutation_p.L483R			P23229	ITA6_HUMAN	integrin, alpha 6	522					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAATTGACCTCCGCCAGAAA	0.493000													47	299					0	0	1	0	0
THNSL1	79896	broad.mit.edu	37	10	25314183	25314183	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:25314183G>T	ENST00000524413.1	+	3	2378	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H	THNSL1_ENST00000376356.4_Missense_Mutation_p.Q677H			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	677					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTATCATGCAGGCTTTAAAGA	0.408000													7	36					0.00198382	0.00217386	1	1	0
C16orf46	123775	broad.mit.edu	37	16	81095509	81095509	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:81095509C>A	ENST00000378611.4	-	3	560	c.445G>T	c.(445-447)Gac>Tac	p.D149Y	C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000299578.5_Missense_Mutation_p.D149Y	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	149										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AAGCAGATGTCGCTAATTGCC	0.557000													30	170					1.08312e-15	1.73373e-15	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5235125	5235125	+	Splice_Site	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:5235125A>G	ENST00000274181.7	+	13	1988		c.e13-1			NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TACACATTCCAGGCCATCGCA	0.428000													25	50					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306898	16306898	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:16306898C>T	ENST00000244769.4	-	9	3046	c.2110G>A	c.(2110-2112)Gcc>Acc	p.A704T	ATXN1_ENST00000436367.1_Missense_Mutation_p.A704T	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	704	Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGGACGCTGGCGGGATCCACG	0.577000													13	51					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4089010	4089010	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:4089010C>T	ENST00000404826.2	+	18	2772	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	SDK1_ENST00000389531.3_Missense_Mutation_p.T878M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	878	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACGTGCAGACGGAAGCCGTG	0.577000													6	86					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76344788	76344788	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:76344788A>G	ENST00000263187.3	+	12	1756	c.1652A>G	c.(1651-1653)gAt>gGt	p.D551G		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	551					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CTACCTAGTGATCAACTTCCT	0.333000								Mismatch excision repair (MMR)					5	33					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299699	31299699	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:31299699C>A	ENST00000265071.2	+	5	1037	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	CDH6_ENST00000514738.1_Missense_Mutation_p.L203M	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	258	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GAACATCACACTGACTGATGT	0.463000													10	105					0.000219431	0.000252858	1	1	0
MARCH8	220972	broad.mit.edu	37	10	45954695	45954695	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:45954695C>A	ENST00000453424.2	-	7	1551	c.1290G>T	c.(1288-1290)acG>acT	p.T430T	MARCH8_ENST00000319836.3_Silent_p.T148T|MARCH8_ENST00000395771.3_Silent_p.T148T|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395769.2_Silent_p.T148T			Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	148						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						GCTCGCTGGACGTCATCTGCA	0.532000													18	82					1.28384e-07	1.6362e-07	1	1	0
CCDC63	160762	broad.mit.edu	37	12	111321993	111321993	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:111321993C>A	ENST00000308208.5	+	8	1255	c.1013C>A	c.(1012-1014)aCg>aAg	p.T338K	CCDC63_ENST00000552694.1_Missense_Mutation_p.T259K|CCDC63_ENST00000545036.1_Missense_Mutation_p.T298K	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	338								p.T338K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						GCTCGGTTCACGTATGTCACG	0.562000													20	37					1.85244e-09	2.60118e-09	1	1	0
TP53	7157	broad.mit.edu	37	17	7579312	7579312	+	Splice_Site	SNP	C	C	A	rs55863639		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375_splice	c.e4+1	p.T125_splice	TP53_ENST00000413465.2_Splice_Site_p.T125_splice|TP53_ENST00000269305.4_Splice_Site_p.T125_splice|TP53_ENST00000445888.2_Splice_Site_p.T125_splice|TP53_ENST00000359597.4_Splice_Site_p.T125_splice|TP53_ENST00000455263.2_Splice_Site_p.T125_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCAACTGACCGTGCAAGTCA	0.537000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			48	53					4.78724e-31	8.34653e-31	1	1	0
TKT	7086	broad.mit.edu	37	3	53262076	53262076	+	Missense_Mutation	SNP	C	C	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:53262076C>G	ENST00000462138.1	-	12	1657	c.1569G>C	c.(1567-1569)aaG>aaC	p.K523N	TKT_ENST00000423525.2_Missense_Mutation_p.K523N|TKT_ENST00000296289.6_Missense_Mutation_p.K476N|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.K531N			P29401	TKT_HUMAN	transketolase	523					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCTCACCTTTCTTCAGCAGTT	0.562000													10	51					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206590724	206590724	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:206590724G>T	ENST00000360409.3	+	6	1699	c.908G>T	c.(907-909)aGg>aTg	p.R303M	NRP2_ENST00000357118.4_Missense_Mutation_p.R303M|NRP2_ENST00000540841.1_Missense_Mutation_p.R303M|NRP2_ENST00000357785.5_Missense_Mutation_p.R303M|NRP2_ENST00000540178.1_Missense_Mutation_p.R303M|NRP2_ENST00000355117.4_Missense_Mutation_p.R303M|NRP2_ENST00000412873.2_Missense_Mutation_p.R303M|NRP2_ENST00000272849.3_Missense_Mutation_p.R303M|NRP2_ENST00000417189.1_Missense_Mutation_p.R303M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	303	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TCTGATGGGAGGTGGACCCCT	0.522000													33	44					1.69901e-12	2.59556e-12	1	1	0
PLAG1	5324	broad.mit.edu	37	8	57078979	57078979	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:57078979C>T	ENST00000316981.3	-	5	1805	c.1326G>A	c.(1324-1326)atG>atA	p.M442I	PLAG1_ENST00000429357.2_Missense_Mutation_p.M442I|PLAG1_ENST00000423799.2_Missense_Mutation_p.M360I	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	442	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GGGAATAGCTCATTCCAAGGC	0.463000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								12	80					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637479	248637479	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:248637479C>A	ENST00000359594.2	+	1	853	c.828C>A	c.(826-828)gaC>gaA	p.D276E		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGAGCAGGACATGATGGTGT	0.532000													17	424					9.57634e-11	1.39481e-10	1	1	0
GABRA1	2554	broad.mit.edu	37	5	161324411	161324411	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:161324411C>A	ENST00000428797.2	+	11	1709	c.1354C>A	c.(1354-1356)Ccc>Acc	p.P452T	GABRA1_ENST00000437025.2_Missense_Mutation_p.P452T|GABRA1_ENST00000444819.1_Missense_Mutation_p.P452T|GABRA1_ENST00000393943.4_Missense_Mutation_p.P452T|GABRA1_ENST00000420560.1_Missense_Mutation_p.P452T|GABRA1_ENST00000023897.6_Missense_Mutation_p.P452T	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	452					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GCTAAAAGCCCCCACACCACA	0.413000													8	91					3.86212e-05	4.56255e-05	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49669770	49669770	+	Missense_Mutation	SNP	C	C	A	rs147483451		TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:49669770C>A	ENST00000561648.1	-	4	3346	c.3293G>T	c.(3292-3294)cGc>cTc	p.R1098L	ZNF423_ENST00000262383.2_Missense_Mutation_p.R1098L|ZNF423_ENST00000567169.1_Missense_Mutation_p.R981L|ZNF423_ENST00000563137.2_Missense_Mutation_p.R1038L|ZNF423_ENST00000562871.1_Missense_Mutation_p.R1038L|ZNF423_ENST00000535559.1_Missense_Mutation_p.R981L|ZNF423_ENST00000562520.1_Missense_Mutation_p.R1038L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1098					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTTGGCGCTGCGGGCCATGCA	0.687000													9	23					7.48243e-07	9.30838e-07	1	1	0
COL20A1	57642	broad.mit.edu	37	20	61942891	61942891	+	Splice_Site	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:61942891G>T	ENST00000422202.1	+	11	1628	c.1560_splice	c.e11+1	p.E520_splice	COL20A1_ENST00000358894.6_Splice_Site_p.E513_splice|COL20A1_ENST00000326996.6_Splice_Site_p.E513_splice|COL20A1_ENST00000435874.1_Splice_Site_p.E520_splice			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	513	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity			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)					AGGAGCGAGAGGTGAGCTGGG	0.701000													3	39					0.00909568	0.00969517	1	1	0
TM4SF1	4071	broad.mit.edu	37	3	149089555	149089555	+	Silent	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:149089555T>C	ENST00000472441.1	-	2	369	c.246A>G	c.(244-246)ggA>ggG	p.G82G	TM4SF1_ENST00000305366.3_Silent_p.G171G			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	171						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGAATTCAATTCCACCAAGAG	0.438000													35	62					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811733	7811733	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:7811733C>A	ENST00000381059.3	+	3	516	c.297C>A	c.(295-297)acC>acA	p.T99T	VCX_ENST00000341408.4_Silent_p.T99T	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	99	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GCGAGGGGACCCAGCACGACC	0.692000													6	181					5.4927e-09	7.46689e-09	1	1	0
CKAP5	9793	broad.mit.edu	37	11	46819375	46819375	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:46819375A>G	ENST00000529230.1	-	11	1364	c.1318T>C	c.(1318-1320)Ttt>Ctt	p.F440L	CKAP5_ENST00000312055.5_Missense_Mutation_p.F440L|CKAP5_ENST00000354558.3_Missense_Mutation_p.F440L|CKAP5_ENST00000415402.1_Missense_Mutation_p.F440L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	440					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GCAGCACAAAAGGGCTTTAGC	0.408000													3	67					0	0	1	0	0
ANKRD19P	138649	broad.mit.edu	37	9	95599312	95599312	+	RNA	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:95599312C>A	ENST00000473204.1	+	0	1393																											AGGCCTCCAGCTGGGCCATGT	0.582000													5	18					0.000602214	0.000674078	1	1	0
MAP4K4	9448	broad.mit.edu	37	2	102501708	102501708	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:102501708G>C	ENST00000413150.2	+	25	2945	c.2890G>C	c.(2890-2892)Gcg>Ccg	p.A964P	MAP4K4_ENST00000347699.4_Missense_Mutation_p.A1049P|MAP4K4_ENST00000302217.5_Missense_Mutation_p.A852P|MAP4K4_ENST00000350198.4_Missense_Mutation_p.A968P|MAP4K4_ENST00000425019.1_Missense_Mutation_p.A1082P|MAP4K4_ENST00000456652.1_Missense_Mutation_p.A848P|MAP4K4_ENST00000324219.4_Missense_Mutation_p.A1130P|MAP4K4_ENST00000350878.4_Missense_Mutation_p.A1089P	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1049	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGAAGTCTATGCGTGGGCACC	0.373000													8	13					0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92900307	92900307	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:92900307G>C	ENST00000532405.1	+	3	519	c.293G>C	c.(292-294)gGa>gCa	p.G98A	SLC24A4_ENST00000298877.1_Missense_Mutation_p.G81A|SLC24A4_ENST00000351924.5_Missense_Mutation_p.G81A|SLC24A4_ENST00000531433.1_Missense_Mutation_p.G98A|SLC24A4_ENST00000393265.2_Missense_Mutation_p.G34A			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	98						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CGACAGCACGGAGCCGTCCTG	0.557000													10	76					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629893	187629893	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:187629893C>A	ENST00000441802.2	-	2	1298	c.1089G>T	c.(1087-1089)ggG>ggT	p.G363G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	363					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTTGACTGGCCCGGCTTTGA	0.458000										HNSCC(5;0.00058)			10	47					0.000442599	0.000498988	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98803158	98803158	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr10:98803158C>A	ENST00000266058.4	-	19	2211	c.1966G>T	c.(1966-1968)Gcc>Tcc	p.A656S	SLIT1_ENST00000371070.4_Missense_Mutation_p.A656S|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	656					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTGTCGAAGGCTCCTGGGGAT	0.652000													6	169					0.217242	0.221493	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77767504	77767504	+	Missense_Mutation	SNP	A	A	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:77767504A>G	ENST00000521891.2	+	10	8795	c.8347A>G	c.(8347-8349)Aat>Gat	p.N2783D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2738D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2738D|ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2757D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2738						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGATGTAGAGAATTTAAATGC	0.428000										HNSCC(33;0.089)			5	23					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73963866	73963866	+	Missense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:73963866T>A	ENST00000358602.4	-	26	5061	c.4945A>T	c.(4945-4947)Agc>Tgc	p.S1649C	ANKRD17_ENST00000509867.2_Missense_Mutation_p.S1536C|ANKRD17_ENST00000330838.6_Missense_Mutation_p.S1398C	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1649	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTTTTTGCTGCTCACAGTG	0.403000													20	115					0	0	1	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114037	53114037	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:53114037G>T	ENST00000375442.4	+	3	1118	c.986G>T	c.(985-987)cGc>cTc	p.R329L		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	329					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAGTTCCAGCGCAACCGCTCA	0.488000													5	61					0.0215528	0.0226135	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135974060	135974060	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:135974060T>A	ENST00000393160.3	-	18	2847	c.2494A>T	c.(2494-2496)Aag>Tag	p.K832*	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372062.3_Nonsense_Mutation_p.K858*|RALGDS_ENST00000372047.3_Nonsense_Mutation_p.K875*|RALGDS_ENST00000372050.3_Nonsense_Mutation_p.K887*|RALGDS_ENST00000542690.1_Nonsense_Mutation_p.K958*|RALGDS_ENST00000393157.3_Nonsense_Mutation_p.K886*	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	887	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTCACTCCCTTGGTGAAGGTC	0.547000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								12	39					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125405432	125405432	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:125405432C>T	ENST00000431078.1	+	13	2335	c.1971C>T	c.(1969-1971)taC>taT	p.Y657Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	657	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTTGGACTACGGGGGCAGCA	0.612000													8	22					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227795	3227795	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:3227795C>A	ENST00000217939.6	-	7	8603	c.8449G>T	c.(8449-8451)Ggc>Tgc	p.G2817C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2817	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGTCACTGCCGAGAATGTTT	0.473000													4	38					1	1	1	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107423227	107423227	+	Silent	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:107423227C>T	ENST00000409382.3	-	6	2107	c.1497G>A	c.(1495-1497)acG>acA	p.T499T	ST6GAL2_ENST00000361686.4_Silent_p.T499T	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	499					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						AATCCCCCTGCGTGCCCATGT	0.597000													20	82					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607455	84607455	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr9:84607455C>A	ENST00000344803.2	+	4	2117	c.2070C>A	c.(2068-2070)caC>caA	p.H690Q		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TAGAGCAACACATTCGAAGGA	0.493000													8	81					0.000442599	0.000498988	1	1	0
NAA11	84779	broad.mit.edu	37	4	80246954	80246954	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:80246954G>T	ENST00000286794.4	-	1	250	c.78C>A	c.(76-78)taC>taA	p.Y26*		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	26	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATTTCATCTGGTAGTTCTCAG	0.493000													17	56					9.16793e-09	1.23556e-08	1	1	0
PCDHGA9	56107	broad.mit.edu	37	5	140782778	140782778	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:140782778G>T	ENST00000573521.1	+	1	259	c.259G>T	c.(259-261)Gcg>Tcg	p.A87S	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGTCACCGCGGGTAGGAT	0.597000													19	68					1.01871e-10	1.47918e-10	1	1	0
TRIM58	25893	broad.mit.edu	37	1	248031333	248031333	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:248031333C>A	ENST00000366481.3	+	5	887	c.839C>A	c.(838-840)cCt>cAt	p.P280H	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	280	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCTGCATCCCTGGGAGGAGG	0.507000													12	17					3.45872e-05	4.12758e-05	1	1	0
KANSL1	284058	broad.mit.edu	37	17	44117218	44117218	+	Silent	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:44117218G>A	ENST00000262419.6	-	8	2523	c.2053C>T	c.(2053-2055)Ctg>Ttg	p.L685L	KANSL1_ENST00000432791.1_Silent_p.L685L|KANSL1_ENST00000393476.3_Silent_p.L42L|KANSL1_ENST00000574590.1_Silent_p.L685L|KANSL1_ENST00000572904.1_Silent_p.L685L|KANSL1_ENST00000575318.1_Silent_p.L685L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	685						MLL1 complex	protein binding										TGAGATTTCAGCATGCTCTGG	0.468000													18	144					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36845792	36845792	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:36845792C>A	ENST00000279024.4	-	13	3035	c.2764G>T	c.(2764-2766)Gca>Tca	p.A922S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	922										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGGAACTCTGCACGTTCTGCC	0.662000													5	23					0.0381472	0.0397579	1	1	0
NOD1	10392	broad.mit.edu	37	7	30494868	30494868	+	Silent	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:30494868G>C	ENST00000222823.4	-	5	786	c.261C>G	c.(259-261)ctC>ctG	p.L87L	NOD1_ENST00000423334.2_Silent_p.L87L	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	87	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGAGCAAGTAGAGGAAGAACT	0.592000													6	80					0	0	1	0	0
TECRL	253017	broad.mit.edu	37	4	65188436	65188436	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:65188436C>A	ENST00000381210.3	-	4	516	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	TECRL_ENST00000507440.1_Missense_Mutation_p.D136Y	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	136					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.D136H(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGACCTAGGTCTGTAGCATAC	0.318000													17	57					2.37509e-13	3.68847e-13	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46967088	46967088	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:46967088T>C	ENST00000264318.3	-	8	2015	c.1033A>G	c.(1033-1035)Aat>Gat	p.N345D		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	345					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTTGAATATTGGTGAAATAG	0.478000													10	56					0	0	1	0	0
TSNAX	7257	broad.mit.edu	37	1	231700404	231700404	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:231700404G>C	ENST00000366639.4	+	6	784	c.626G>C	c.(625-627)gGg>gCg	p.G209A	TRAX_ENST00000602962.1_Intron	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	209					cell differentiation|multicellular organismal development|spermatogenesis	nucleus|perinuclear region of cytoplasm	protein transporter activity|sequence-specific DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				GTGGGGAATGGGGACATTGAT	0.458000													20	130					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242187460	242187460	+	Silent	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:242187460C>A	ENST00000391975.1	-	14	1916	c.1689G>T	c.(1687-1689)gtG>gtT	p.V563V	HDLBP_ENST00000427183.2_Silent_p.V530V|HDLBP_ENST00000391976.2_Silent_p.V563V|HDLBP_ENST00000310931.4_Silent_p.V563V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	563	KH 6.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGCATTTTTCCACCTCATTCT	0.468000													26	42					2.80507e-11	4.15009e-11	1	1	0
STK11	6794	broad.mit.edu	37	19	1220430	1220430	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:1220430A>T	ENST00000326873.7	+	4	1696	c.523A>T	c.(523-525)Aag>Tag	p.K175*		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	175	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTGTGCACAAGGACATCAA	0.652000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			4	6					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275593	54275593	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:54275593G>C	ENST00000354646.2	-	17	3626	c.3188C>G	c.(3187-3189)aCa>aGa	p.T1063R	WNK3_ENST00000375169.3_Missense_Mutation_p.T1063R|WNK3_ENST00000375159.2_Missense_Mutation_p.T1063R	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1063					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AGTGTTCACTGTAGTTTCTCC	0.448000													3	34					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73952144	73952144	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr6:73952144C>T	ENST00000423730.3	-	2	532	c.97G>A	c.(97-99)Gag>Aag	p.E33K	KHDC1_ENST00000370384.3_Missense_Mutation_p.E106K|KHDC1_ENST00000257765.5_Missense_Mutation_p.E33K																							ATGAGCTCCTCCTGGTCCTCT	0.532000													23	32					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487956	24487956	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:24487956G>T	ENST00000264463.4	-	12	2690	c.2183C>A	c.(2182-2184)cCc>cAc	p.P728H	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	728					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTCGTAGGGGGGTGCGGTGGG	0.453000										HNSCC(23;0.051)			6	104					1.06961e-07	1.37438e-07	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79083559	79083559	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:79083559C>A	ENST00000388820.4	-	5	1036	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	276	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAACAGGCCAGCCACCTGC	0.607000													8	71					0.0477658	0.0496721	1	1	0
KDR	3791	broad.mit.edu	37	4	55961822	55961822	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr4:55961822C>A	ENST00000263923.4	-	20	3034	c.2739G>T	c.(2737-2739)atG>atT	p.M913I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	913	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCACAATCACCATGAGTGGCC	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			6	37					8.12818e-05	9.55418e-05	1	1	0
SYNJ1	8867	broad.mit.edu	37	21	34038827	34038827	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr21:34038827T>C	ENST00000382499.2	-	16	1984	c.1985A>G	c.(1984-1986)aAc>aGc	p.N662S	SYNJ1_ENST00000433931.2_Missense_Mutation_p.N662S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.N618S|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N623S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N623S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	623	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACATACTTGTTGTCTCTGGA	0.383000													18	129					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013936	74013936	+	Missense_Mutation	SNP	T	T	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr17:74013936T>G	ENST00000301607.3	-	14	1847	c.1594A>C	c.(1594-1596)Acc>Ccc	p.T532P	EVPL_ENST00000586740.1_Missense_Mutation_p.T554P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	532	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCAGCCGGGTCATCTGTGTC	0.677000													8	70					0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10670601	10670601	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:10670601G>C	ENST00000312962.6	-	10	849	c.830C>G	c.(829-831)cCc>cGc	p.P277R	KRI1_ENST00000361821.5_Missense_Mutation_p.P273R	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	277	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTGGACTGGGGGACCGTGGAC	0.582000													9	19					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729715	62729715	+	Missense_Mutation	SNP	G	G	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:62729715G>A	ENST00000349451.3	+	6	1088	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	OPRL1_ENST00000355631.4_Missense_Mutation_p.V226I|OPRL1_ENST00000336866.2_Missense_Mutation_p.V226I	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	226					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CTCCTTCATCGTCCCCGTGCT	0.612000													18	112					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65263397	65263397	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr14:65263397C>A	ENST00000389722.3	-	10	1272	c.1219G>T	c.(1219-1221)Gag>Tag	p.E407*	SPTB_ENST00000556626.1_Nonsense_Mutation_p.E407*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.E407*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.E407*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.E407*	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	407					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGGGCCAGCTCCCGCCGATAC	0.577000													17	40					2.89027e-11	4.26269e-11	1	1	0
MST1	4485	broad.mit.edu	37	3	49723769	49723769	+	Missense_Mutation	SNP	A	A	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:49723769A>C	ENST00000449682.2	-	8	1354	c.993T>G	c.(991-993)ttT>ttG	p.F331L	MST1_ENST00000545762.1_3'UTR|MST1_ENST00000383728.3_Missense_Mutation_p.F256L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	317	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TTTCTGGCGTAAATCGGTGCT	0.652000													4	34					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195508343	195508343	+	Missense_Mutation	SNP	A	A	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:195508343A>T	ENST00000463781.3	-	2	10567	c.10108T>A	c.(10108-10110)Tcc>Acc	p.S3370T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3370T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACCTGTGGAAGCTGAGGAA	0.587000													3	7					0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519706	113519706	+	Missense_Mutation	SNP	C	C	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:113519706C>A	ENST00000284601.3	-	4	1509	c.1441G>T	c.(1441-1443)Gat>Tat	p.D481Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	481					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CATCCCAAATCTTTTACTTCA	0.378000													12	26					4.36969e-10	6.21026e-10	1	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581388	140581388	+	Missense_Mutation	SNP	G	G	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr5:140581388G>C	ENST00000354757.3	+	1	2041	c.2041G>C	c.(2041-2043)Gcc>Ccc	p.A681P	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A316P	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		681					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGGCCCAGGCCCAGGCCGA	0.697000													12	87					0	0	1	0	0
FOXR2	139628	broad.mit.edu	37	X	55650678	55650678	+	Missense_Mutation	SNP	G	G	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chrX:55650678G>T	ENST00000339140.3	+	1	846	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	178					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						ACCAGAGCCAGAAACTATGGC	0.498000													3	31					0.150653	0.154609	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2820749	2820749	+	Missense_Mutation	SNP	C	C	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:2820749C>T	ENST00000602557.1	-	61	10007	c.9452G>A	c.(9451-9453)tGt>tAt	p.C3151Y	CSMD1_ENST00000520002.1_Missense_Mutation_p.C3151Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.C2973Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.C2974Y|CSMD1_ENST00000537824.1_Missense_Mutation_p.C3150Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.C2974Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3151	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTTACGGAGACACTGGGGGAT	0.542000													40	81					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30966330	30966330	+	Missense_Mutation	SNP	T	T	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:30966330T>C	ENST00000295055.8	-	13	1540	c.1364A>G	c.(1363-1365)aAc>aGc	p.N455S	CAPN13_ENST00000534090.2_Missense_Mutation_p.N455S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	455					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CACAACATAGTTCCCAGGGCT	0.468000													37	237					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79383649	79383650	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr1:79383649_79383650delAT	ENST00000370742.3	-	11	1610_1611	c.1547_1548delAT	c.(1546-1548)tfs	p.Y516fs		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	516					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CAACAATGAGATAGAGATGTAT	0.406													20	149	---	---	---	---					
IGKV3-11	28914	broad.mit.edu	37	2	89327070	89327071	+	RNA	INS	-	-	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:89327070_89327071insT	ENST00000483158.1	-	0	96																											AATTATATTTCTTGCTGAGCAG	0.401													9	52	---	---	---	---					
ZSWIM2	151112	broad.mit.edu	37	2	187698693	187698693	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr2:187698693delG	ENST00000295131.2	-	6	847	c.808delC	c.(808-810)acfs	p.H270fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	270					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTAAACGTGTGGGAAAGATGG	0.358													9	72	---	---	---	---					
LINC00882	100302640	broad.mit.edu	37	3	106825460	106825461	+	RNA	INS	-	-	T			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr3:106825460_106825461insT	ENST00000484698.1	-	0	295																											CTATGCTTTCCTTTTTCAGTTA	0.450													9	72	---	---	---	---					
STK31	56164	broad.mit.edu	37	7	23826155	23826155	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:23826155delC	ENST00000354639.3	+	19	2698	c.2234delC	c.(2233-2235)gcfs	p.A745fs	STK31_ENST00000428484.1_Frame_Shift_Del_p.A745fs|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Frame_Shift_Del_p.A768fs|STK31_ENST00000355870.3_Frame_Shift_Del_p.A768fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	768	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						GACACAGAAGCCAAGGTGATT	0.403													8	98	---	---	---	---					
OR6V1	346517	broad.mit.edu	37	7	142749638	142749638	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr7:142749638delG	ENST00000418316.1	+	1	222	c.201delG	c.(199-201)ctfs	p.L67fs		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTCCCTGCTGGAGATCTTGG	0.493													44	262	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89497917	89497917	+	RNA	DEL	A	A	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr8:89497917delA	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							ACCTTCGTTGAAGCACAATGA	0.393													20	52	---	---	---	---					
OR4S2	219431	broad.mit.edu	37	11	55419098	55419098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr11:55419098delC	ENST00000312422.2	+	1	719	c.719delC	c.(718-720)tcfs	p.S240fs		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				ACCTGTGGCTCCCACATTGCC	0.483													31	78	---	---	---	---					
CD9	928	broad.mit.edu	37	12	6344399	6344399	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:6344399delT	ENST00000382518.1	+	6	789	c.353delT	c.(352-354)atfs	p.I118fs	CD9_ENST00000481267.1_3'UTR|CD9_ENST00000382515.2_Frame_Shift_Del_p.I49fs|CD9_ENST00000009180.4_Frame_Shift_Del_p.I118fs			P21926	CD9_HUMAN	CD9 molecule	118					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						TTGTAGGTGATTAAGGAAGTC	0.483													53	251	---	---	---	---					
PRB4	5545	broad.mit.edu	37	12	11461701	11461702	+	Frame_Shift_Ins	INS	-	-	G			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr12:11461701_11461702insG	ENST00000279575.1	-	3	248_249	c.215_216insC	c.(214-216)cccfs	p.P72fs	PRB4_ENST00000535904.1_Frame_Shift_Ins_p.P72fs|PRB4_ENST00000445719.2_Frame_Shift_Ins_p.P72fs	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	72	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGAGGAGGTGGGGGACCTTG	0.624										HNSCC(22;0.051)			53	677	---	---	---	---					
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4162-4167)ataaaafs	p.IK1388fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1388					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337													8	105	---	---	---	---					
ALG1	56052	broad.mit.edu	37	16	5125505	5125505	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr16:5125505delC	ENST00000588623.1	+	5	1274	c.174delC	c.(172-174)ggfs	p.G58fs	ALG1_ENST00000262374.5_Frame_Shift_Del_p.G169fs|ALG1_ENST00000544428.1_Frame_Shift_Del_p.G58fs			Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	169					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TGGTGCATGGCCCCAACCATC	0.542													12	83	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703989	53703990	+	RNA	INS	-	-	C			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:53703989_53703990insC	ENST00000597550.1	+	0	232																											TTGTTCTGTTTCCCCCtttttt	0.470													3	6	---	---	---	---					
ZNF549	256051	broad.mit.edu	37	19	58049656	58049657	+	Frame_Shift_Ins	INS	-	-	A			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr19:58049656_58049657insA	ENST00000376233.3	+	4	1465_1466	c.1284_1285insA	c.(1282-1287)caaaaafs	p.QK428fs	ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Frame_Shift_Ins_p.QK415fs|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTCATTCACAAAAAAAGACT	0.421													8	62	---	---	---	---					
LOC63930	63930	broad.mit.edu	37	20	61680623	61680625	+	RNA	DEL	TCC	TCC	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr20:61680623_61680625delTCC	ENST00000607802.1	+	0	91				RP11-305P22.5_ENST00000455711.1_lincRNA	NR_033370.1																						ctcctcctcttcctcctcctcct	0.606													2	4	---	---	---	---					
C21orf58	54058	broad.mit.edu	37	21	47734799	47734799	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-7913-01B-11D-2238-08	TCGA-55-7913-10A-01D-2238-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca138254-66ce-4df1-ab2b-17310aef640d	441733b7-dafe-47f2-952f-7332f21bdede	g.chr21:47734799delA	ENST00000397682.3	-	5	1825	c.122delT	c.(121-123)tgfs	p.L41fs	C21orf58_ENST00000397680.1_Frame_Shift_Del_p.L41fs|C21orf58_ENST00000397685.4_3'UTR|C21orf58_ENST00000291691.7_Intron|C21orf58_ENST00000397683.1_Frame_Shift_Del_p.L41fs|C21orf58_ENST00000397679.1_Frame_Shift_Del_p.L41fs			P58505	CU058_HUMAN	chromosome 21 open reading frame 58	147										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		TTGTTCCTGCAAGGCCGATGC	0.711													2	4	---	---	---	---					
