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
NAPSA	9476	broad.mit.edu	37	19	50862816	50862816	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50862816C>T	ENST00000253719.2	-	7	1088	c.880G>A	c.(880-882)Gag>Aag	p.E294K	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	294					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CGGATCTCCTCAGTGGGTCCT	0.647000													14	51					0	0	0.001855	0	0
WNK4	65266	broad.mit.edu	37	17	40940726	40940726	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40940726G>C	ENST00000246914.5	+	11	2089	c.2068G>C	c.(2068-2070)Gag>Cag	p.E690Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	690					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGAGTGGTTGAGTGCCAGCT	0.542000													14	43					0	0	0.001855	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53927562	53927562	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:53927562G>A	ENST00000263634.3	-	8	1218	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.R289C|ASB3_ENST00000406625.2_Missense_Mutation_p.R397C|GPR75-ASB3_ENST00000482829.1_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.R289C|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.R400C	NM_016115.4	NP_057199.1	Q2TAI4	Q2TAI4_HUMAN		397					intracellular signal transduction												AAAAAGTAGCGAAATATCGAA	0.353000													7	72					0	0	0.001984	0	0
NFE2L2	4780	broad.mit.edu	37	2	178095623	178095623	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:178095623C>T	ENST00000397062.3	-	5	2262	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	NFE2L2_ENST00000464747.1_Missense_Mutation_p.D554N|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D547N|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D554N	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	570					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CCATCTTCATCACGTAGCATG	0.378000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			18	107					0	0	0.007413	0	0
PHACTR3	116154	broad.mit.edu	37	20	58349449	58349449	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:58349449G>T	ENST00000371015.1	+	7	1545	c.1078G>T	c.(1078-1080)Gag>Tag	p.E360*	PHACTR3_ENST00000359926.3_Nonsense_Mutation_p.E357*|PHACTR3_ENST00000395636.2_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000395639.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000355648.4_Nonsense_Mutation_p.E319*|PHACTR3_ENST00000361300.4_Nonsense_Mutation_p.E249*|PHACTR3_ENST00000541461.1_Nonsense_Mutation_p.E319*	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	360						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TAAGGAATCTGAGGAGAACAA	0.517000													22	70					8.10497e-08	1.24125e-07	0.001523	1	0
OR5D13	390142	broad.mit.edu	37	11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408000													8	67					0	0	0.004482	0	0
INSRR	3645	broad.mit.edu	37	1	156821804	156821804	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:156821804G>A	ENST00000368195.3	-	3	1213	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	273					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGACACAGCGCCAGGACTCA	0.662000													10	32					0	0	0.000978	0	0
SYT4	6860	broad.mit.edu	37	18	40853923	40853923	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:40853923G>C	ENST00000255224.3	-	2	839	c.471C>G	c.(469-471)ctC>ctG	p.L157L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L139L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	157	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGAGAAGAAGAGAGTTCCCA	0.453000													5	33					0	0	0.000602	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986900	89986900	+	RNA	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:89986900T>A	ENST00000491977.1	+	0	211																											TTTGTATTGGTACCTGCAGAA	0.557000													8	42					0	0	0.006214	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255172	9255172	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:9255172C>T	ENST00000383440.2	+	8	2095	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L	ANKRD12_ENST00000400020.3_Missense_Mutation_p.S613L|ANKRD12_ENST00000262126.3_Missense_Mutation_p.S636L	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	636						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TTTGAAAATTcagattgcaca	0.274000													14	51					0	0	0.001855	0	0
TMEM132D	121256	broad.mit.edu	37	12	129694177	129694177	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:129694177G>A	ENST00000422113.2	-	5	1657	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	RP11-669N7.3_ENST00000542578.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	444						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTCTTCCCCGTGAGGATGGC	0.592000													11	39					0	0	0.001368	0	0
ALDH9A1	223	broad.mit.edu	37	1	165664528	165664528	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:165664528C>A	ENST00000354775.4	-	2	592	c.288G>T	c.(286-288)gaG>gaT	p.E96D	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Missense_Mutation_p.E2D	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	72					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	TTCGGCAACGCTCCATGCCAG	0.398000													18	34					3.52763e-06	5.25545e-06	0.004990	1	0
UGT1A8	54576	broad.mit.edu	37	2	234527112	234527112	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234527112G>A	ENST00000373450.4	+	1	822	c.759G>A	c.(757-759)ttG>ttA	p.L253L		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTGGTTGTTGCGAACAGACT	0.428000													61	290					0	0	0.003610	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266590	41266590	+	Silent	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:41266590A>G	ENST00000349496.5	+	4	667	c.387A>G	c.(385-387)tcA>tcG	p.S129S	CTNNB1_ENST00000453024.1_Silent_p.S122S|CTNNB1_ENST00000405570.1_Silent_p.S129S|CTNNB1_ENST00000396185.3_Silent_p.S129S|CTNNB1_ENST00000396183.3_Silent_p.S129S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	129					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(7)|p.Q28_H134del(5)|p.W25_I140del(3)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.M5_N141>D(2)|p.M1_V173del(1)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.H24_M131del(1)|p.I35_K170del(1)|p.E15_I140>V(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P16_K133del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTGAACCATCACAGATGCTGA	0.448000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				15	48					0	0	0.002450	0	0
KMT2C	58508	broad.mit.edu	37	7	152012253	152012253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:152012253G>C	ENST00000355193.2	-	4	778	c.560C>G	c.(559-561)tCa>tGa	p.S187*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S187*					lysine (K)-specific methyltransferase 2C																		TCGTGGTGCTGAGTTTTGCAT	0.353000													23	88					0	0	0.003954	0	0
HS6ST1	9394	broad.mit.edu	37	2	129025882	129025882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:129025882G>A	ENST00000259241.6	-	2	1103	c.1090C>T	c.(1090-1092)Cag>Tag	p.Q364*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	364					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		CGCTCCAGCTGCCGCTTGTAC	0.672000													20	50					0	0	0.001882	0	0
PIGM	93183	broad.mit.edu	37	1	160001446	160001446	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:160001446G>A	ENST00000368090.2	-	1	337	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	28					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGCGACTCTGGCTAGAAAGG	0.607000													30	77					0	0	0.006320	0	0
RWDD3	25950	broad.mit.edu	37	1	95710026	95710026	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:95710026C>A	ENST00000429514.2	+	3	506	c.300C>A	c.(298-300)ctC>ctA	p.L100L	RWDD3_ENST00000370202.4_Silent_p.L115L|RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000495272.1_3'UTR|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Silent_p.L115L			Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	115	RWD.					cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		GGCATATCCTCAGCCAACCAG	0.443000													13	46					6.72482e-11	1.07108e-10	0.003163	1	0
PTPRD	5789	broad.mit.edu	37	9	8518241	8518241	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:8518241T>G	ENST00000381196.4	-	18	1693	c.1150A>C	c.(1150-1152)Agt>Cgt	p.S384R	PTPRD_ENST00000486161.1_Missense_Mutation_p.S384R|PTPRD_ENST00000356435.5_Missense_Mutation_p.S384R|PTPRD_ENST00000355233.5_Missense_Mutation_p.S384R|PTPRD_ENST00000397606.3_Missense_Mutation_p.S374R|PTPRD_ENST00000397611.3_Missense_Mutation_p.S381R|PTPRD_ENST00000397617.3_Missense_Mutation_p.S374R|PTPRD_ENST00000540109.1_Missense_Mutation_p.S384R|PTPRD_ENST00000360074.4_Missense_Mutation_p.S371R|PTPRD_ENST00000537002.1_Missense_Mutation_p.S381R|PTPRD_ENST00000358503.5_Missense_Mutation_p.S371R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	384	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGTAGGGACTTAGTCCAGCG	0.463000										TSP Lung(15;0.13)			24	159					0	0	0.003330	0	0
ODF2	4957	broad.mit.edu	37	9	131254985	131254985	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254985G>A	ENST00000303890.5	+	18	2166	c.1581G>A	c.(1579-1581)atG>atA	p.M527I	ODF2_ENST00000444119.2_Missense_Mutation_p.M527I|ODF2_ENST00000351030.3_Missense_Mutation_p.M546I|ODF2_ENST00000372807.5_Missense_Mutation_p.M546I|ODF2_ENST00000434106.2_Missense_Mutation_p.M551I|ODF2_ENST00000372791.3_Missense_Mutation_p.M532I|ODF2_ENST00000372814.3_Missense_Mutation_p.M595I|ODF2_ENST00000393533.2_Missense_Mutation_p.M551I|ODF2_ENST00000546203.1_Missense_Mutation_p.M532I|ODF2_ENST00000372796.4_Missense_Mutation_p.M551I|ODF2_ENST00000448249.3_Missense_Mutation_p.M470I	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	551					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CCTAGGTGATGAAGACCAGAT	0.483000													6	31					0	0	0.001168	0	0
XK	7504	broad.mit.edu	37	X	37586996	37586996	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:37586996C>T	ENST00000378616.3	+	3	819	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	206					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGTGAAGCCTCTGGCCTATGT	0.493000													10	39					0	0	0.000673	0	0
VWA8	23078	broad.mit.edu	37	13	42335296	42335296	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:42335296G>C	ENST00000379310.3	-	21	2462	c.2394C>G	c.(2392-2394)ctC>ctG	p.L798L	VWA8_ENST00000281496.6_Silent_p.L798L	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		GGGGTCTGTTGAGCAGGTGAA	0.363000													22	80					0	0	0.002780	0	0
GPR115	221393	broad.mit.edu	37	6	47678616	47678616	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:47678616C>G	ENST00000283303.2	+	4	552	c.294C>G	c.(292-294)ctC>ctG	p.L98L	GPR115_ENST00000371220.1_Silent_p.L155L|GPR115_ENST00000327753.3_Silent_p.L98L	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	98					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TGGAAAAACTCTTTAAGGTGA	0.373000													9	39					0	0	0.000673	0	0
PCLO	27445	broad.mit.edu	37	7	82785588	82785588	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82785588C>G	ENST00000423517.2	-	2	706	c.369G>C	c.(367-369)caG>caC	p.Q123H	PCLO_ENST00000333891.8_Missense_Mutation_p.Q123H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	123					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGGCAATTTCTGCTCTGACC	0.483000													15	76					0	0	0.004990	0	0
MPRIP	23164	broad.mit.edu	37	17	17061836	17061836	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:17061836G>A	ENST00000395811.5	+	14	1655	c.1566G>A	c.(1564-1566)ccG>ccA	p.P522P	MPRIP_ENST00000444976.1_Silent_p.P484P|MPRIP_ENST00000395804.3_Silent_p.P522P|MPRIP_ENST00000341712.4_Silent_p.P522P	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	522						cytoplasm|cytoskeleton	actin binding	p.P522P(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGGGGGAGCCGGACCCTGAGC	0.632000													9	42					0	0	0.006214	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502282	140502282	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:140502282C>A	ENST00000194152.1	+	1	702	c.702C>A	c.(700-702)atC>atA	p.I234I		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		234	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.I234I(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCATGGACATCAATGACAATG	0.527000													23	105					3.62473e-10	5.71091e-10	0.001882	1	0
ALOX12	239	broad.mit.edu	37	17	6905118	6905118	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:6905118C>A	ENST00000251535.6	+	8	1202	c.1149C>A	c.(1147-1149)caC>caA	p.H383Q	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399540.2_3'UTR	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	383	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGGACTGCACCCCATCTTCA	0.488000													16	68					6.31663e-08	9.70766e-08	0.003163	1	0
APOB	338	broad.mit.edu	37	2	21230369	21230369	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:21230369T>C	ENST00000233242.1	-	26	9498	c.9371A>G	c.(9370-9372)gAt>gGt	p.D3124G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3124					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTTAAGAAATCCAGATTTGC	0.378000													19	84					0	0	0.006122	0	0
JARID2	3720	broad.mit.edu	37	6	15508627	15508627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:15508627C>G	ENST00000341776.2	+	12	3032	c.2788C>G	c.(2788-2790)Cga>Gga	p.R930G	JARID2_ENST00000397311.3_Missense_Mutation_p.R758G|JARID2_ENST00000541660.1_Missense_Mutation_p.R892G	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	930	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				ATGCTGGTCTCGAGACCAAAA	0.463000													12	47					0	0	0.004007	0	0
SLC1A6	6511	broad.mit.edu	37	19	15061151	15061151	+	Silent	SNP	G	G	T	rs143528996		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:15061151G>T	ENST00000430939.2	-	9	1488	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	SLC1A6_ENST00000600144.1_Silent_p.A439A|SLC1A6_ENST00000221742.3_Silent_p.A517A			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	517					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTCGATGACGGCCGCTCCAA	0.567000													16	49					3.45872e-05	5.08362e-05	0.004007	1	0
SKIV2L	6499	broad.mit.edu	37	6	31934521	31934521	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934521C>T	ENST00000375394.2	+	19	2351	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	SKIV2L_ENST00000544581.1_Silent_p.L553L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	746	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						AGTTCCGCCTCACGTACACTA	0.567000													23	124					0	0	0.003330	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343462	130343462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:130343462C>T	ENST00000299164.2	+	8	2599	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	867	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGTGGACTGCCGGGGCTCCGC	0.751000													5	24					0	0	0.001168	0	0
WDFY3	23001	broad.mit.edu	37	4	85701392	85701392	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:85701392C>A	ENST00000322366.6	-	26	4641	c.4234G>T	c.(4234-4236)Gca>Tca	p.A1412S	WDFY3_ENST00000295888.4_Missense_Mutation_p.A1412S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1412						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGATGGCTGCAGCTCCACCA	0.478000													29	61					2.47511e-08	3.81724e-08	0.001512	1	0
EPCAM	4072	broad.mit.edu	37	2	47604194	47604194	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:47604194C>A	ENST00000263735.4	+	5	891	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	EPCAM_ENST00000405271.1_Missense_Mutation_p.P206Q	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	178					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						CAACTGGATCCAAAATTTATC	0.333000													12	53					1.61879e-10	2.55968e-10	0.001368	1	0
USP33	23032	broad.mit.edu	37	1	78207408	78207408	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:78207408C>T	ENST00000370793.1	-	3	414	c.68G>A	c.(67-69)gGg>gAg	p.G23E	USP33_ENST00000528150.1_5'UTR|USP33_ENST00000370792.3_Missense_Mutation_p.G23E|USP33_ENST00000370794.3_5'UTR|USP33_ENST00000357428.1_Missense_Mutation_p.G23E	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	23					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTCCTGTTTCCCAAGACTTTC	0.289000													3	24					0	0	0.004672	0	0
ZNF624	57547	broad.mit.edu	37	17	16527194	16527194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:16527194C>T	ENST00000311331.7	-	6	1097	c.1006G>A	c.(1006-1008)Gaa>Aaa	p.E336K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTCCACATTCATTACATTTA	0.368000													24	79					0	0	0.002780	0	0
LDLR	3949	broad.mit.edu	37	19	11213447	11213447	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:11213447G>C	ENST00000558518.1	+	3	485	c.298G>C	c.(298-300)Gac>Cac	p.D100H	LDLR_ENST00000455727.2_Missense_Mutation_p.D100H|LDLR_ENST00000545707.1_Missense_Mutation_p.D100H|LDLR_ENST00000558013.1_Missense_Mutation_p.D100H|LDLR_ENST00000557933.1_Missense_Mutation_p.D100H|LDLR_ENST00000535915.1_Intron	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	100	LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAACGGCTCAGACGAGCAAGG	0.592000													14	85					0	0	0.001855	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400946	11400946	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:11400946G>A	ENST00000002596.5	-	2	1858	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	228						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.I228I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CGACCTTTTGGATCTCAGGGA	0.557000													6	28					0	0	0.001168	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													3	91					0	0	0.004672	0	0
GIMAP5	55340	broad.mit.edu	37	7	150439312	150439312	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:150439312A>G	ENST00000358647.3	+	3	452	c.85A>G	c.(85-87)Agg>Ggg	p.R29G	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGCATTGAGGATTATCCT	0.468000													3	60					0	0	0.004672	0	0
USP34	9736	broad.mit.edu	37	2	61483552	61483552	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:61483552G>C	ENST00000398571.2	-	48	6264	c.6188C>G	c.(6187-6189)tCt>tGt	p.S2063C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2063					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCCACAATGAGAACAAGTATA	0.313000													9	44					0	0	0.006214	0	0
PASK	23178	broad.mit.edu	37	2	242065973	242065973	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:242065973T>C	ENST00000403638.3	-	10	2448	c.2357A>G	c.(2356-2358)gAa>gGa	p.E786G	PASK_ENST00000544142.1_Missense_Mutation_p.E600G|PASK_ENST00000358649.4_Missense_Mutation_p.E786G|PASK_ENST00000539818.1_Missense_Mutation_p.E570G|PASK_ENST00000234040.4_Missense_Mutation_p.E786G|PASK_ENST00000405260.1_Missense_Mutation_p.E786G	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	786					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|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;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGACCCCTGTTCCTGGAGACT	0.567000													22	65					0	0	0.002299	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	60					0	0	0.000248	0	0
ASIC5	51802	broad.mit.edu	37	4	156764841	156764841	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:156764841G>T	ENST00000537611.2	-	5	899	c.853C>A	c.(853-855)Caa>Aaa	p.Q285K		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	285						integral to membrane|plasma membrane											ACCTTCACTTGGCGGATGGTT	0.443000													19	71					1.37878e-21	2.27889e-21	0.003330	1	0
DMAP1	55929	broad.mit.edu	37	1	44685131	44685131	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:44685131C>G	ENST00000372289.2	+	7	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	DMAP1_ENST00000315913.5_Silent_p.V320V|DMAP1_ENST00000361745.6_Silent_p.V320V|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	320					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CTGCAGGTGTCACGCTGCGGA	0.582000													9	29					0	0	0.000673	0	0
MGEA5	10724	broad.mit.edu	37	10	103563684	103563684	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:103563684G>C	ENST00000361464.3	-	7	1239	c.844C>G	c.(844-846)Cat>Gat	p.H282D	MGEA5_ENST00000439817.1_Missense_Mutation_p.H282D|MGEA5_ENST00000357797.5_Missense_Mutation_p.H282D|MGEA5_ENST00000370094.3_Missense_Mutation_p.H282D	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	282					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TCATTAGCATGAATGTTATCC	0.398000													28	117					0	0	0.004656	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99757817	99757817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:99757817G>A	ENST00000360039.4	-	4	1587	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R399C|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R337C	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	399					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCTCGGCGAGCCCGGAGC	0.612000													36	102					0	0	0.004289	0	0
RBKS	64080	broad.mit.edu	37	2	28050554	28050554	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:28050554C>A	ENST00000302188.3	-	7	1427	c.675G>T	c.(673-675)ttG>ttT	p.L225F	RBKS_ENST00000444339.2_Missense_Mutation_p.L225F	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	225					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCCCCTTTTCAAGAGCACTA	0.512000													17	60					2.23348e-06	3.33879e-06	0.004007	1	0
BMP7	655	broad.mit.edu	37	20	55750064	55750064	+	Splice_Site	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:55750064C>G	ENST00000395863.3	-	5	1464		c.e5-1		BMP7_ENST00000460817.1_Splice_Site|BMP7_ENST00000395864.3_Splice_Site|BMP7_ENST00000450594.2_Splice_Site	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7						BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTGCTGTTCTCTGCATTGACA	0.537000													4	6					0	0	0.000602	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAATGGAGGAATTTGTACAGA	0.393000													4	99					0	0	0.001984	0	0
ULK2	9706	broad.mit.edu	37	17	19748690	19748690	+	Splice_Site	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:19748690G>A	ENST00000395544.4	-	7	969	c.469_splice	c.e7-1	p.A157_splice	ULK2_ENST00000361658.2_Splice_Site_p.A157_splice	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	157	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ACCAAAATCCGCTATTTCACA	0.413000													8	22					0	0	0.004482	0	0
SLC24A1	9187	broad.mit.edu	37	15	65916745	65916745	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65916745G>A	ENST00000261892.6	+	2	614	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC24A1_ENST00000339868.6_Silent_p.E109E|SLC24A1_ENST00000546330.1_Silent_p.E109E|SLC24A1_ENST00000537259.1_Silent_p.E109E|SLC24A1_ENST00000544319.2_Silent_p.E109E|SLC24A1_ENST00000399033.4_Silent_p.E109E	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	109					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGACAGTGGAGAATATCCCCA	0.493000													4	21					0	0	0.000248	0	0
EIF3M	10480	broad.mit.edu	37	11	32615458	32615458	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:32615458G>C	ENST00000531120.1	+	6	643	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	EIF3M_ENST00000524896.1_Missense_Mutation_p.E62Q	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	194						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					AAGTTACACAGAGGACAATGC	0.398000													12	26					0	0	0.000978	0	0
HSPD1	3329	broad.mit.edu	37	2	198363463	198363463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198363463C>T	ENST00000388968.3	-	2	377	c.110G>A	c.(109-111)cGa>cAa	p.R37Q	HSPD1_ENST00000345042.2_Missense_Mutation_p.R37Q|HSPD1_ENST00000544407.1_Missense_Mutation_p.R37Q	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	37					'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)			CATTAAGGCTCGGGCATCTGC	0.463000													16	85					0	0	0.004990	0	0
NLRP12	91662	broad.mit.edu	37	19	54318203	54318203	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:54318203G>A	ENST00000324134.6	-	2	497	c.329C>T	c.(328-330)tCa>tTa	p.S110L	NLRP12_ENST00000391773.1_Missense_Mutation_p.S110L|NLRP12_ENST00000391772.1_Missense_Mutation_p.S110L|NLRP12_ENST00000535162.1_Missense_Mutation_p.S110L|NLRP12_ENST00000345770.5_Missense_Mutation_p.S110L|NLRP12_ENST00000351894.4_Missense_Mutation_p.S110L|NLRP12_ENST00000354278.3_Missense_Mutation_p.S110L|NLRP12_ENST00000391775.3_Missense_Mutation_p.S110L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	110					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCATGTTGACTGGTTCCC	0.517000													26	78					0	0	0.003954	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178184	153178184	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178184G>C	ENST00000370028.3	-	13	1689	c.1632C>G	c.(1630-1632)ctC>ctG	p.L544L	ARHGAP4_ENST00000370016.1_Silent_p.L483L|ARHGAP4_ENST00000350060.5_Silent_p.L504L|ARHGAP4_ENST00000537206.1_Silent_p.L481L|ARHGAP4_ENST00000393721.1_Silent_p.L326L	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	504	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCCCAAAGAGTCTCTGGT	0.552000													33	115					0	0	0.006230	0	0
SYNE1	23345	broad.mit.edu	37	6	152470722	152470722	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:152470722C>T	ENST00000367255.5	-	136	25133	c.24532G>A	c.(24532-24534)Gag>Aag	p.E8178K	SYNE1_ENST00000354674.4_Missense_Mutation_p.E333K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E8107K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E8178K|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Missense_Mutation_p.E8107K|SYNE1_ENST00000539504.1_Missense_Mutation_p.E333K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7790K|SYNE1_ENST00000356820.4_Missense_Mutation_p.E2702K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8178					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCAAGGGCTCACTCTTTTCT	0.478000										HNSCC(10;0.0054)			20	62					0	0	0.007413	0	0
COL1A2	1278	broad.mit.edu	37	7	94057185	94057185	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:94057185G>C	ENST00000297268.6	+	49	3985	c.3514G>C	c.(3514-3516)Gag>Cag	p.E1172Q		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1172	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGCCACCCAGAGTGGAGCAG	0.468000										HNSCC(75;0.22)			4	27					0	0	0.000248	0	0
RABEP2	79874	broad.mit.edu	37	16	28925721	28925721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:28925721C>T	ENST00000358201.4	-	5	1318	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	RABEP2_ENST00000357573.6_Missense_Mutation_p.G244S|RABEP2_ENST00000544477.1_Missense_Mutation_p.G173S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	244					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						GAGCTGCTGCCGACCCCACCG	0.672000													10	35					0	0	0.000673	0	0
COL6A2	1292	broad.mit.edu	37	21	47549243	47549243	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:47549243C>T	ENST00000357838.4	+	28	2677	c.2595C>T	c.(2593-2595)gcC>gcT	p.A865A	COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.A865A|COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGGACCCGGCCGCCTACTCCC	0.657000													21	100					0	0	0.001523	0	0
ABHD14A	25864	broad.mit.edu	37	3	52014456	52014456	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:52014456C>T	ENST00000273596.3	+	4	513	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	ABHD14B_ENST00000483233.1_Intron|ABHD14A-ACY1_ENST00000463937.1_Intron|ABHD14A_ENST00000491470.1_Intron|ACY1_ENST00000458031.2_Intron	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	149						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAGGCAGGGCGGGCAGCGCT	0.637000													25	45					0	0	0.001512	0	0
SKIV2L	6499	broad.mit.edu	37	6	31934894	31934894	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:31934894G>C	ENST00000375394.2	+	20	2567	c.2454G>C	c.(2452-2454)ctG>ctC	p.L818L	SKIV2L_ENST00000544581.1_Silent_p.L625L	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	818						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGGAGGAACTGACAGAGACCC	0.537000													16	77					0	0	0.006122	0	0
TRPM1	4308	broad.mit.edu	37	15	31358388	31358388	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:31358388G>A	ENST00000542188.1	-	6	1045	c.732C>T	c.(730-732)tcC>tcT	p.S244S	TRPM1_ENST00000397795.2_Silent_p.S205S|TRPM1_ENST00000256552.6_Silent_p.S227S	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	205					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)		AGTGGGTGTGGGAGTTGTTGA	0.537000													16	94					0	0	0.001523	0	0
SOX5	6660	broad.mit.edu	37	12	23998941	23998941	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:23998941C>G	ENST00000546136.1	-	2	420	c.418G>C	c.(418-420)Gag>Cag	p.E140Q	SOX5_ENST00000537393.1_Missense_Mutation_p.E118Q|SOX5_ENST00000381381.2_Missense_Mutation_p.E140Q|SOX5_ENST00000541536.1_Missense_Mutation_p.E140Q|SOX5_ENST00000441133.2_Missense_Mutation_p.E118Q|SOX5_ENST00000541847.1_Missense_Mutation_p.E143Q|SOX5_ENST00000451604.2_Missense_Mutation_p.E153Q|SOX5_ENST00000309359.1_Missense_Mutation_p.E140Q|SOX5_ENST00000545921.1_Missense_Mutation_p.E143Q			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	153					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TTGATGAGCTCTTCCATTTTC	0.438000													17	85					0	0	0.007413	0	0
DPYD	1806	broad.mit.edu	37	1	97564048	97564048	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:97564048G>T	ENST00000370192.3	-	21	2863	c.2763C>A	c.(2761-2763)atC>atA	p.I921I	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	921					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTTTACCTTGATGGTAGGAA	0.289000													22	68					5.35047e-06	7.94409e-06	0.003330	1	0
SLX4	84464	broad.mit.edu	37	16	3656656	3656656	+	Missense_Mutation	SNP	C	C	G	rs148887586		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:3656656C>G	ENST00000294008.3	-	3	1219	c.579G>C	c.(577-579)ttG>ttC	p.L193F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	193	Interaction with C20orf94, ERCC4 and MSH2.				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						CTGCTGTTGTCAAACAGGAAG	0.512000								Direct reversal of damage					41	143					0	0	0.007835	0	0
ACSL4	2182	broad.mit.edu	37	X	108926454	108926454	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:108926454A>T	ENST00000340800.2	-	4	766	c.262T>A	c.(262-264)Tcc>Acc	p.S88T	ACSL4_ENST00000348502.6_Missense_Mutation_p.S47T|ACSL4_ENST00000469796.2_Missense_Mutation_p.S88T	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	88					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCAAACTTGGATACAGCATGG	0.413000													35	140					0	0	0.004289	0	0
CFTR	1080	broad.mit.edu	37	7	117149168	117149168	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:117149168T>A	ENST00000003084.6	+	3	377	c.245T>A	c.(244-246)aTg>aAg	p.M82K	CFTR_ENST00000454343.1_Missense_Mutation_p.M82K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	82	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGAGATTTATGTTCTATGGA	0.318000									Cystic Fibrosis				22	103					0	0	0.001882	0	0
KCNQ2	3785	broad.mit.edu	37	20	62039880	62039880	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:62039880C>G	ENST00000354587.3	-	16	1973	c.1797G>C	c.(1795-1797)caG>caC	p.Q599H	KCNQ2_ENST00000344462.3_Missense_Mutation_p.Q587H|KCNQ2_ENST00000359125.2_Missense_Mutation_p.Q591H|KCNQ2_ENST00000357249.2_Missense_Mutation_p.Q573H|KCNQ2_ENST00000430658.1_Missense_Mutation_p.Q560H|KCNQ2_ENST00000370224.1_Missense_Mutation_p.Q599H|KCNQ2_ENST00000370226.1_Missense_Mutation_p.Q561H|KCNQ2_ENST00000359689.1_Missense_Mutation_p.Q591H|KCNQ2_ENST00000360480.3_Missense_Mutation_p.Q563H			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	597					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCCCCACGATCTGGTCCACTC	0.697000													3	18					0	0	0.004672	0	0
ATG16L1	55054	broad.mit.edu	37	2	234186223	234186223	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:234186223G>A	ENST00000392017.4	+	10	1221	c.964G>A	c.(964-966)Gat>Aat	p.D322N	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D178N|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D159N|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D339N|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D303N	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	322					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GGATGCACATGATGGGGAAGT	0.522000													15	48					0	0	0.003163	0	0
EHF	26298	broad.mit.edu	37	11	34668200	34668200	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:34668200C>G	ENST00000257831.3	+	3	433	c.312C>G	c.(310-312)ctC>ctG	p.L104L	EHF_ENST00000450654.2_Silent_p.L104L|EHF_ENST00000530286.1_Silent_p.L104L|EHF_ENST00000527935.1_Silent_p.L104L|EHF_ENST00000531728.1_Silent_p.L104L|EHF_ENST00000533754.1_Silent_p.L104L|EHF_ENST00000531794.1_Silent_p.L126L	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	104	PNT.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGCAGCTCCTCTACAGCAACT	0.552000													316	140					0	0	0.003610	0	0
CXCR2	3579	broad.mit.edu	37	2	219000052	219000052	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:219000052G>A	ENST00000318507.2	+	3	955	c.528G>A	c.(526-528)ctG>ctA	p.L176L		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	176					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCTTGCTCCTGGCCCTGCCTG	0.532000													18	32					0	0	0.007413	0	0
APOBEC1	339	broad.mit.edu	37	12	7818459	7818459	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7818459C>T	ENST00000229304.4	-	1	30	c.10G>A	c.(10-12)Gag>Aag	p.E4K		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	4					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTACCTTTCTCAGAAGTCATG	0.488000													24	126					0	0	0.003954	0	0
RRAGB	10325	broad.mit.edu	37	X	55757890	55757890	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:55757890C>T	ENST00000374941.4	+	5	976	c.387C>T	c.(385-387)agC>agT	p.S129S	RRAGB_ENST00000474757.1_3'UTR|RRAGB_ENST00000262850.7_Silent_p.S157S	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	157					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						ATGTGGAGAGCCGCGAACTGG	0.433000													3	19					0	0	0.004672	0	0
PSG7	5676	broad.mit.edu	37	19	43428917	43428917	+	RNA	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:43428917G>C	ENST00000406070.2	-	0	1399					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				cttgctctttgaggttccatg	0.418000													18	63					0	0	0.001523	0	0
MAP3K1	4214	broad.mit.edu	37	5	56152466	56152466	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:56152466C>T	ENST00000399503.3	+	2	522	c.522C>T	c.(520-522)caC>caT	p.H174H	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	174					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AAGGGTTGCACAAGATGGATG	0.403000													9	62					0	0	0.004482	0	0
UCP3	7352	broad.mit.edu	37	11	73717291	73717291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:73717291C>T	ENST00000314032.4	-	3	812	c.260G>A	c.(259-261)cGc>cAc	p.R87H	UCP3_ENST00000426995.2_Missense_Mutation_p.R87H|UCP3_ENST00000348534.4_Missense_Mutation_p.R87H	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	87					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					GCTCATCTGGCGCTGCAGGCC	0.647000													8	33					0	0	0.004482	0	0
USP1	7398	broad.mit.edu	37	1	62905655	62905655	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:62905655C>G	ENST00000339950.4	+	2	932	c.117C>G	c.(115-117)ttC>ttG	p.F39L	USP1_ENST00000371146.1_Missense_Mutation_p.F39L	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	39					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		CTTTGGATTTCACAGATTCTC	0.318000													15	74					0	0	0.004007	0	0
SYN2	6854	broad.mit.edu	37	3	12209896	12209896	+	RNA	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:12209896C>T	ENST00000432424.2	+	0	1248							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGGGTGGACACCTGCTCTGAG	0.522000													9	20					0	0	0.004482	0	0
FAM89A	375061	broad.mit.edu	37	1	231155686	231155686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:231155686C>G	ENST00000366654.4	-	2	512	c.478G>C	c.(478-480)Gac>Cac	p.D160H	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	160										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GGGCCTCGGTCCCTCCTGTCG	0.587000													27	66					0	0	0.007291	0	0
ZNF449	203523	broad.mit.edu	37	X	134493848	134493848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:134493848C>G	ENST00000339249.4	+	4	731	c.591C>G	c.(589-591)ttC>ttG	p.F197L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	197					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACATGAACTTCTCATTGGAGA	0.363000													33	91					0	0	0.005524	0	0
SLC8A3	6547	broad.mit.edu	37	14	70518746	70518746	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:70518746G>T	ENST00000381269.2	-	5	2745	c.1992C>A	c.(1990-1992)ccC>ccA	p.P664P	SLC8A3_ENST00000394330.2_Silent_p.P21P|SLC8A3_ENST00000216568.7_Silent_p.P35P|SLC8A3_ENST00000534137.1_Silent_p.P661P|SLC8A3_ENST00000528359.1_Silent_p.P662P|SLC8A3_ENST00000356921.2_Silent_p.P658P|SLC8A3_ENST00000533541.1_Silent_p.P21P|SLC8A3_ENST00000357887.3_Silent_p.P662P	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	664					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTCTAGTTTGGGGTGTTCAC	0.428000													27	59					1.7367e-05	2.56119e-05	0.006320	1	0
GLI1	2735	broad.mit.edu	37	12	57864291	57864291	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57864291C>T	ENST00000228682.2	+	12	1859	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	GLI1_ENST00000543426.1_Missense_Mutation_p.R462W|GLI1_ENST00000546141.1_Missense_Mutation_p.R549W	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	590					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CTACCTGCTTCGGGCAAGATA	0.632000													13	63					0	0	0.001855	0	0
KIF5C	3800	broad.mit.edu	37	2	149793866	149793866	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:149793866C>G	ENST00000435030.1	+	4	728	c.360C>G	c.(358-360)atC>atG	p.I120M	KIF5C_ENST00000414838.2_Missense_Mutation_p.I25M			O60282	KIF5C_HUMAN	kinesin family member 5C	120	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTGACCATATCTACTCCATGG	0.483000													2	7					0	0	0.004672	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326865	89326865	+	RNA	SNP	T	T	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:89326865T>G	ENST00000483158.1	-	0	194																											AAGTAGCTGCTAACACTCTGA	0.562000													27	83					0	0	0.004656	0	0
SIK3	23387	broad.mit.edu	37	11	116728595	116728595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:116728595C>T	ENST00000375300.1	-	20	3447	c.3442G>A	c.(3442-3444)Gaa>Aaa	p.E1148K	SIK3_ENST00000434315.2_Missense_Mutation_p.E929K|SIK3_ENST00000292055.4_Missense_Mutation_p.E1090K|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.E425K|SIK3_ENST00000446921.2_Missense_Mutation_p.E1088K|SIK3_ENST00000542607.1_Missense_Mutation_p.E1030K			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1090						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ATCCCCAATTCTTGGGCATGA	0.507000													12	57					0	0	0.001855	0	0
DIRC2	84925	broad.mit.edu	37	3	122514336	122514336	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:122514336C>G	ENST00000261038.5	+	1	695	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	99					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGGGGCCCATCGGCTTCCTGC	0.692000													5	23					0	0	0.001168	0	0
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647000													3	134					0	0	0.001168	0	0
ODF2	4957	broad.mit.edu	37	9	131254993	131254993	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:131254993G>A	ENST00000303890.5	+	18	2174	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	ODF2_ENST00000444119.2_Missense_Mutation_p.R530K|ODF2_ENST00000351030.3_Missense_Mutation_p.R549K|ODF2_ENST00000372807.5_Missense_Mutation_p.R549K|ODF2_ENST00000434106.2_Missense_Mutation_p.R554K|ODF2_ENST00000372791.3_Missense_Mutation_p.R535K|ODF2_ENST00000372814.3_Missense_Mutation_p.R598K|ODF2_ENST00000393533.2_Missense_Mutation_p.R554K|ODF2_ENST00000546203.1_Missense_Mutation_p.R535K|ODF2_ENST00000372796.4_Missense_Mutation_p.R554K|ODF2_ENST00000448249.3_Missense_Mutation_p.R473K	NM_002540.4	NP_002531.3	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	554					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGAAGACCAGATTGGAGGCT	0.473000													6	29					0	0	0.001168	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21377664	21377664	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:21377664C>G	ENST00000256958.2	+	14	1852	c.1756C>G	c.(1756-1758)Cta>Gta	p.L586V		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	586					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	AGGAGGAATTCTAGCTCCAAT	0.358000													21	67					0	0	0.002780	0	0
TP53	7157	broad.mit.edu	37	17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> 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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448000		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)			12	51					0	0	0.001855	0	0
LAMC3	10319	broad.mit.edu	37	9	133967145	133967145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:133967145C>A	ENST00000361069.4	+	28	4832	c.4699C>A	c.(4699-4701)Ctg>Atg	p.L1567M	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1567	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCTGCACAGCCTGCCCGAGAA	0.637000													11	28					1.08611e-07	1.64607e-07	0.000978	1	0
C16orf46	123775	broad.mit.edu	37	16	81095518	81095518	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:81095518C>T	ENST00000378611.4	-	3	551	c.436G>A	c.(436-438)Gca>Aca	p.A146T	C16orf46_ENST00000299578.5_Missense_Mutation_p.A146T|C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	146										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCGCTAATTGCCCTGGAAGCA	0.572000													5	188					0	0	0.001168	0	0
SLC12A5	57468	broad.mit.edu	37	20	44675031	44675031	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:44675031G>T	ENST00000454036.1	+	14	1888	c.1812G>T	c.(1810-1812)ctG>ctT	p.L604L	SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Silent_p.L581L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	604					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAGACGCTGCTGAGGACAC	0.567000													14	65					6.72482e-11	1.07108e-10	0.003163	1	0
GAS2L2	246176	broad.mit.edu	37	17	34072759	34072759	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:34072759C>T	ENST00000254466.6	-	6	1784	c.1757G>A	c.(1756-1758)cGg>cAg	p.R586Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R570Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	586					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTGTGTACCGCCCCTCCTG	0.582000													20	90					0	0	0.007413	0	0
TENM2	57451	broad.mit.edu	37	5	167419991	167419991	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:167419991C>T	ENST00000519204.1	+	4	745	c.627C>T	c.(625-627)ttC>ttT	p.F209F	TENM2_ENST00000403607.2_Silent_p.F163F|TENM2_ENST00000545108.1_Silent_p.F330F|TENM2_ENST00000518659.1_Silent_p.F330F|TENM2_ENST00000520393.1_3'UTR|TENM2_ENST00000520394.1_Silent_p.F139F					teneurin transmembrane protein 2																		CACCCTTGTTCAGCAGCTCTT	0.567000													22	52					0	0	0.001882	0	0
MXRA5	25878	broad.mit.edu	37	X	3238066	3238066	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:3238066C>A	ENST00000217939.6	-	5	5814	c.5660G>T	c.(5659-5661)tGg>tTg	p.W1887L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1887	Ig-like C2-type 3.					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)				AACCTTTGTCCAAGTAACGAA	0.393000													16	58					0.00074312	0.00107421	0.006122	1	0
AQR	9716	broad.mit.edu	37	15	35189848	35189848	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:35189848C>G	ENST00000156471.5	-	21	2527	c.2302G>C	c.(2302-2304)Gat>Cat	p.D768H		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	768						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGTCTTCATCTTCCACATCC	0.378000													19	33					0	0	0.007413	0	0
RNASE4	6038	broad.mit.edu	37	14	21167749	21167749	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:21167749C>T	ENST00000555835.1	+	2	895	c.219C>T	c.(217-219)ttC>ttT	p.F73F	RP11-903H12.3_ENST00000554286.1_lincRNA|RNASE4_ENST00000397995.2_Silent_p.F73F|RNASE4_ENST00000304704.4_Silent_p.F73F|RNASE4_ENST00000555597.1_Silent_p.F73F|AL163636.6_ENST00000553909.1_RNA	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	73					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TCAACACCTTCATCCATGAAG	0.478000													26	109					0	0	0.003954	0	0
DAPK1	1612	broad.mit.edu	37	9	90296352	90296352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:90296352C>T	ENST00000469640.2	+	20	2410	c.2035C>T	c.(2035-2037)Cga>Tga	p.R679*	DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R679*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R679*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R679*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R679*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	679					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						CCAGCAGCTCCGACCCACACA	0.502000									Chronic Lymphocytic Leukemia, Familial Clustering of				32	136					0	0	0.004289	0	0
PCLO	27445	broad.mit.edu	37	7	82763968	82763968	+	Silent	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:82763968T>C	ENST00000423517.2	-	3	3235	c.2898A>G	c.(2896-2898)caA>caG	p.Q966Q	PCLO_ENST00000333891.8_Silent_p.Q966Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	912	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCAGGGGCTTGTTTCATTG	0.507000													9	41					0	0	0.006214	0	0
SLC24A1	9187	broad.mit.edu	37	15	65918077	65918077	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:65918077C>T	ENST00000261892.6	+	2	1946	c.1659C>T	c.(1657-1659)ctC>ctT	p.L553L	SLC24A1_ENST00000339868.6_Silent_p.L553L|SLC24A1_ENST00000546330.1_Silent_p.L553L|SLC24A1_ENST00000537259.1_Silent_p.L553L|SLC24A1_ENST00000544319.2_Silent_p.L553L|SLC24A1_ENST00000399033.4_Silent_p.L553L	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	553					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTCAACCTCACCTGGTGGC	0.517000													25	104					0	0	0.003330	0	0
PLCB1	23236	broad.mit.edu	37	20	8717816	8717816	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr20:8717816G>A	ENST00000378641.3	+	20	2660	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K	PLCB1_ENST00000378637.2_Missense_Mutation_p.E729K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.E729K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	729	C2.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGTCTGGGAAGAAGAACCTAT	0.378000													6	42					0	0	0.001168	0	0
PIK3R5	23533	broad.mit.edu	37	17	8790443	8790443	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:8790443G>C	ENST00000447110.1	-	12	1999	c.1875C>G	c.(1873-1875)ctC>ctG	p.L625L	PIK3R5_ENST00000584803.1_Silent_p.L625L|PIK3R5_ENST00000581552.1_Silent_p.L625L	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	625					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCAGGTGCATGAGGCCCAGTA	0.622000													8	37					0	0	0.003080	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974696	21974696	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:21974696T>C	ENST00000304494.5	-	1	401	c.131A>G	c.(130-132)tAc>tGc	p.Y44C	CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.Y44C|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.Y44C|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.Y44C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	44					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.0(1)|p.V28_V51del(1)|p.Y44fs*76(1)|p.Y44S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCCGACCGTAACTATTCGG	0.687000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			38	135					0	0	0.004878	0	0
CATSPER3	347732	broad.mit.edu	37	5	134305780	134305780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:134305780G>C	ENST00000282611.6	+	2	336	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	CATSPER3_ENST00000511235.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	84					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGACTTCTTGAGGTAAGCAG	0.333000													15	81					0	0	0.003163	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52729530	52729530	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:52729530C>G	ENST00000287727.3	+	5	2436	c.2264C>G	c.(2263-2265)tCa>tGa	p.S755*	ZFYVE9_ENST00000357206.2_Nonsense_Mutation_p.S755*|ZFYVE9_ENST00000361625.1_Nonsense_Mutation_p.S755*|ZFYVE9_ENST00000371591.1_Nonsense_Mutation_p.S755*	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	755					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ATCTGCCATTCAGTGCTAATG	0.418000													5	23					0	0	0.001168	0	0
VPS13D	55187	broad.mit.edu	37	1	12336511	12336511	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:12336511C>T	ENST00000358136.3	+	19	2996	c.2866C>T	c.(2866-2868)Ctg>Ttg	p.L956L	VPS13D_ENST00000356315.4_Silent_p.L956L	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	956					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCAGCTCCTCCTGGCGGAATT	0.498000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	57					0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179397871	179397871	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:179397871C>G	ENST00000589042.1	-	358	103695	c.103471G>C	c.(103471-103473)Gaa>Caa	p.E34491Q	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25551Q|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25618Q|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32850Q|TTN_ENST00000460472.2_Missense_Mutation_p.E25426Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31923Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32850							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E25551Q(1)|p.E25618Q(1)|p.E25426Q(1)|p.E31921Q(1)|p.E31923Q(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTACACTTTCAGTTCCAGAA	0.433000													41	131					0	0	0.005524	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541716	96541716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:96541716C>G	ENST00000371321.3	+	5	863	c.781C>G	c.(781-783)Cgg>Ggg	p.R261G	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	261					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAACAACCCTCGGGACTTTAT	0.353000													22	47					0	0	0.002299	0	0
CYP27B1	1594	broad.mit.edu	37	12	58158990	58158990	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:58158990G>C	ENST00000228606.4	-	4	803	c.594C>G	c.(592-594)atC>atG	p.I198M	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	198					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GAACCGCGGCGATGCCTTGTC	0.692000											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	32					0	0	0.001168	0	0
UMODL1	89766	broad.mit.edu	37	21	43531075	43531075	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43531075C>T	ENST00000400427.1	+	11	1923	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	UMODL1_ENST00000408989.2_Silent_p.L581L|UMODL1_ENST00000408910.2_Silent_p.L581L|UMODL1_ENST00000400424.1_Silent_p.L509L	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	576	EGF-like 2; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCTCGGCCTAGAGA	0.657000													12	32					0	0	0.001368	0	0
AURKC	6795	broad.mit.edu	37	19	57746747	57746747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:57746747C>T	ENST00000302804.7	+	7	1078	c.892C>T	c.(892-894)Cga>Tga	p.R298*	AURKC_ENST00000598785.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000599062.1_Nonsense_Mutation_p.R295*|AURKC_ENST00000448930.1_Nonsense_Mutation_p.R264*|AURKC_ENST00000415300.2_Nonsense_Mutation_p.R279*	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	298					cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GGCCCACTCCCGAAGGGTGCT	0.622000													21	75					0	0	0.001882	0	0
ILDR2	387597	broad.mit.edu	37	1	166891884	166891884	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:166891884C>T	ENST00000271417.3	-	8	1212	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	ILDR2_ENST00000469934.2_Missense_Mutation_p.R386H|ILDR2_ENST00000526687.1_Missense_Mutation_p.R278H|ILDR2_ENST00000528703.1_Missense_Mutation_p.R327H|ILDR2_ENST00000529071.1_Missense_Mutation_p.R367H|ILDR2_ENST00000525740.1_Missense_Mutation_p.R259H|ILDR2_ENST00000529387.1_Intron	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	386						integral to membrane		p.R386L(1)		NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TGAGGGCCCGCGGCTTGCCCC	0.582000													47	225					0	0	0.002852	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94652141	94652141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94652141C>T	ENST00000260526.6	-	16	1876	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	565					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGGAAGTTTTCGATGAAAGTC	0.388000													36	97					0	0	0.005524	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:45566526G>A	ENST00000588982.1	-	3	1454	c.953C>T	c.(952-954)cCg>cTg	p.P318L	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.P318L|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.P318L|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.P318L			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	318	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617000													4	61					0	0	0.000602	0	0
PGAP1	80055	broad.mit.edu	37	2	197767387	197767387	+	Silent	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:197767387T>A	ENST00000354764.3	-	5	843	c.729A>T	c.(727-729)ggA>ggT	p.G243G	PGAP1_ENST00000409475.1_Silent_p.G243G|PGAP1_ENST00000409188.1_Silent_p.G201G|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	243					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AATCCCGGAATCCTCCAGCTA	0.358000													14	54					0	0	0.004007	0	0
C9orf152	401546	broad.mit.edu	37	9	112963671	112963671	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:112963671C>T	ENST00000400613.4	-	2	886	c.277G>A	c.(277-279)Gag>Aag	p.E93K	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	93										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GAATCTGCCTCTTCCAGGGAC	0.547000													13	57					0	0	0.002450	0	0
LRRC37A	9884	broad.mit.edu	37	17	44408455	44408455	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:44408455G>C	ENST00000320254.5	+	9	3815	c.3812G>C	c.(3811-3813)aGa>aCa	p.R1271T	ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.R309T|ARL17B_ENST00000575960.1_Intron|LRRC37A_ENST00000393465.3_Missense_Mutation_p.R1271T	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1271						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GTGAGAGACAGATCGAAAGAC	0.468000													16	54					0	0	0.004990	0	0
TMEM8B	51754	broad.mit.edu	37	9	35853523	35853523	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:35853523C>T	ENST00000377988.2	+	13	2393	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W	TMEM8B_ENST00000377991.4_Missense_Mutation_p.R369W	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	369					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CGTCCGCCGCCGGCACTGCTA	0.607000													18	50					0	0	0.006122	0	0
WNK3	65267	broad.mit.edu	37	X	54337720	54337720	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:54337720C>G	ENST00000354646.2	-	3	980	c.542G>C	c.(541-543)cGa>cCa	p.R181P	WNK3_ENST00000375159.2_Missense_Mutation_p.R181P|WNK3_ENST00000375169.3_Missense_Mutation_p.R181P	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	181	Protein kinase.				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						GGTTAACTTTCGGTCCTGAAA	0.378000													8	18					0	0	0.004482	0	0
MTBP	27085	broad.mit.edu	37	8	121473491	121473491	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:121473491G>C	ENST00000305949.1	+	9	1018	c.973G>C	c.(973-975)Gag>Cag	p.E325Q		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	325					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTGAATTTGAGTTGTATCC	0.323000													13	42					0	0	0.004007	0	0
LIF	3976	broad.mit.edu	37	22	30639779	30639779	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:30639779C>A	ENST00000249075.3	-	3	625	c.470G>T	c.(469-471)aGc>aTc	p.S157I	LIF_ENST00000403987.3_3'UTR	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	157					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GTGGTACTTGCTGCACAGGCG	0.607000													24	59					1.17739e-12	1.90295e-12	0.005443	1	0
MUC5B	727897	broad.mit.edu	37	11	1271681	1271681	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:1271681C>G	ENST00000447027.1	+	31	13638	c.13580C>G	c.(13579-13581)gCc>gGc	p.A4527G	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4524G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4524	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCTTTACAGCCATCCCCTCC	0.627000													41	71					0	0	0.003610	0	0
FBXO46	23403	broad.mit.edu	37	19	46215504	46215504	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:46215504T>C	ENST00000317683.3	-	2	1383	c.1250A>G	c.(1249-1251)gAc>gGc	p.D417G		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	417							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGGGGGCCCGTCCGGCCCGCG	0.726000													10	22					0	0	0.006214	0	0
CDH17	1015	broad.mit.edu	37	8	95172204	95172204	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:95172204T>A	ENST00000027335.3	-	12	1670	c.1546A>T	c.(1546-1548)Aaa>Taa	p.K516*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.K302*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.K516*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	516	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTACCTTTTTAATTATGACA	0.378000													8	81					0	0	0.003080	0	0
UNC13C	440279	broad.mit.edu	37	15	54305735	54305735	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:54305735A>T	ENST00000545554.1	+	1	635	c.635A>T	c.(634-636)aAg>aTg	p.K212M	UNC13C_ENST00000537900.1_Missense_Mutation_p.K212M|UNC13C_ENST00000260323.11_Missense_Mutation_p.K212M			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	212					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATAAGAAGTAAGTCTTTGGAC	0.438000													23	96					0	0	0.003330	0	0
ZNF676	163223	broad.mit.edu	37	19	22363886	22363886	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:22363886G>C	ENST00000397121.2	-	3	950	c.633C>G	c.(631-633)atC>atG	p.I211M		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	211				KFSILTKHKVIHT -> WSSSLTEHKRIHA (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTAGTAAGGATTGAGAACT	0.353000													14	78					0	0	0.004990	0	0
ANKHD1	54882	broad.mit.edu	37	5	139825539	139825539	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:139825539C>G	ENST00000297183.6	+	6	1250	c.1126C>G	c.(1126-1128)Cta>Gta	p.L376V	ANKHD1_ENST00000394722.3_Missense_Mutation_p.L365V|ANKHD1_ENST00000360839.2_Missense_Mutation_p.L376V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L376V|ANKHD1_ENST00000394723.3_Missense_Mutation_p.L376V	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAAGTGCTCTAACACTTGC	0.348000													7	21					0	0	0.001984	0	0
IFT140	9742	broad.mit.edu	37	16	1614075	1614075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:1614075C>T	ENST00000426508.2	-	17	2353	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	664										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TGCACGGCTTCGCATACAAAC	0.577000													14	58					0	0	0.001855	0	0
ATP8A1	10396	broad.mit.edu	37	4	42416643	42416643	+	Splice_Site	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:42416643C>T	ENST00000381668.5	-	36	3629		c.e36+1		ATP8A1_ENST00000264449.10_Splice_Site	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1						ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CAAATACTCACGGAGCAGATT	0.388000													24	82					0	0	0.002780	0	0
TUBA3C	7278	broad.mit.edu	37	13	19753481	19753481	+	Splice_Site	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:19753481C>T	ENST00000400113.3	-	2	330	c.226_splice	c.e2+1	p.D76_splice		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	76					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.D76N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAGCACCTACCGACCACAGTG	0.587000													7	67					0	0	0.001984	0	0
PXDNL	137902	broad.mit.edu	37	8	52252221	52252221	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:52252221G>C	ENST00000356297.4	-	21	4209	c.4109C>G	c.(4108-4110)gCg>gGg	p.A1370G	PXDNL_ENST00000543296.1_Intron	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1370					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)				CTGAATTTCCGCTGCAAACGT	0.368000													21	108					0	0	0.002299	0	0
SYNJ1	8867	broad.mit.edu	37	21	34037326	34037326	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:34037326C>T	ENST00000382499.2	-	18	2317	c.2318G>A	c.(2317-2319)cGa>cAa	p.R773Q	SYNJ1_ENST00000382491.3_Missense_Mutation_p.R729Q|SYNJ1_ENST00000357345.3_Missense_Mutation_p.R734Q|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R773Q|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R734Q	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	734	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						GAGATCGATTCGATAGTTGAA	0.348000													7	44					0	0	0.001984	0	0
C2orf50	130813	broad.mit.edu	37	2	11284117	11284117	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:11284117G>A	ENST00000381585.3	+	3	651	c.369G>A	c.(367-369)acG>acA	p.T123T	C2orf50_ENST00000405022.3_Silent_p.T123T			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	123										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		CCAGTTCCACGAACCAGGTTG	0.582000													10	61					0	0	0.000673	0	0
IL4I1	259307	broad.mit.edu	37	19	50393181	50393181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:50393181C>T	ENST00000595948.1	-	10	2136	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	IL4I1_ENST00000391826.2_Missense_Mutation_p.A484T|IL4I1_ENST00000341114.3_Missense_Mutation_p.A506T	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	484						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGCGGGTAGGCGGTGTGCTCG	0.667000											OREG0025629	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	18					0	0	0.001168	0	0
NIN	51199	broad.mit.edu	37	14	51233551	51233551	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:51233551C>G	ENST00000245441.5	-	13	1682	c.1492G>C	c.(1492-1494)Gag>Cag	p.E498Q	NIN_ENST00000389868.3_Missense_Mutation_p.E498Q|NIN_ENST00000324330.9_Missense_Mutation_p.E498Q|NIN_ENST00000453196.1_Missense_Mutation_p.E498Q|NIN_ENST00000530997.2_Missense_Mutation_p.E498Q|NIN_ENST00000382041.3_Missense_Mutation_p.E498Q|NIN_ENST00000382043.4_Missense_Mutation_p.E498Q	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	498					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					GTCAGATTCTCATATTCTGCC	0.358000			T	PDGFRB	MPD								50	81					0	0	0.003610	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910724	61910724	+	Silent	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:61910724G>C	ENST00000448276.2	-	11	1639	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	SMARCD2_ENST00000323347.10_Silent_p.L410L|SMARCD2_ENST00000225742.9_Silent_p.L383L	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	458					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TGCTAAAACTGAGCATGAAAT	0.537000													23	64					0	0	0.002299	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039136	184039136	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:184039136C>T	ENST00000342981.4	+	9	1178	c.764C>T	c.(763-765)tCa>tTa	p.S255L	EIF4G1_ENST00000434061.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000435046.2_Missense_Mutation_p.S59L|EIF4G1_ENST00000319274.6_Missense_Mutation_p.S255L|EIF4G1_ENST00000392537.2_Missense_Mutation_p.S168L|EIF4G1_ENST00000411531.1_Missense_Mutation_p.S215L|EIF4G1_ENST00000441154.1_Missense_Mutation_p.S91L|EIF4G1_ENST00000350481.5_Missense_Mutation_p.S91L|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Missense_Mutation_p.S168L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.S262L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.S262L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.S262L|EIF4G1_ENST00000346169.2_Missense_Mutation_p.S255L|EIF4G1_ENST00000414031.1_Missense_Mutation_p.S215L	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	255					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CATAGCCCTTCAGAATCCCAG	0.577000													23	99					0	0	0.002299	0	0
OTOF	9381	broad.mit.edu	37	2	26688665	26688665	+	Silent	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:26688665C>A	ENST00000272371.2	-	38	4800	c.4674G>T	c.(4672-4674)acG>acT	p.T1558T	OTOF_ENST00000402415.3_Silent_p.T868T|OTOF_ENST00000403946.3_Silent_p.T1558T|OTOF_ENST00000338581.6_Silent_p.T791T|OTOF_ENST00000339598.3_Silent_p.T791T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1558	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACACAGCCACCGTCAGCATGG	0.572000													11	51					1.08611e-07	1.64607e-07	0.000978	1	0
MAGEC2	51438	broad.mit.edu	37	X	141290746	141290746	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:141290746C>G	ENST00000247452.3	-	3	1375	c.1028G>C	c.(1027-1029)aGa>aCa	p.R343T		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	343						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGGACTCTCTCTTCCAC	0.453000										HNSCC(46;0.14)			30	135					0	0	0.001512	0	0
DFNB31	25861	broad.mit.edu	37	9	117187294	117187294	+	Missense_Mutation	SNP	C	C	T	rs138164522		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:117187294C>T	ENST00000362057.3	-	5	1345	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	DFNB31_ENST00000265134.6_Missense_Mutation_p.D10N|DFNB31_ENST00000374059.3_Missense_Mutation_p.D42N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	393					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTTGTGAGATCGCCAAGAAAC	0.537000													30	90					0	0	0.007291	0	0
CTSF	8722	broad.mit.edu	37	11	66332076	66332076	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:66332076C>A	ENST00000310325.5	-	11	1383	c.1274G>T	c.(1273-1275)aGc>aTc	p.S425I		NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	425					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGCCAAGGGCTGCAGAGGGG	0.627000													9	3					0.000673444	0.000976717	0.000673	1	0
IQUB	154865	broad.mit.edu	37	7	123097516	123097516	+	Silent	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:123097516G>T	ENST00000466202.1	-	12	2688	c.2112C>A	c.(2110-2112)tcC>tcA	p.S704S	RP11-332K15.1_ENST00000419832.1_RNA|IQUB_ENST00000324698.6_Silent_p.S704S			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	704										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						ACCACTCCAGGGATTTATTCC	0.453000													24	112					8.24728e-16	1.34788e-15	0.004656	1	0
CDADC1	81602	broad.mit.edu	37	13	49852553	49852553	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr13:49852553C>A	ENST00000251108.6	+	7	1231	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	CDADC1_ENST00000444959.1_Missense_Mutation_p.S175Y	NM_001193478.1|NM_030911.3	NP_001180407.1|NP_112173.1	Q9BWV3	CDAC1_HUMAN	cytidine and dCMP deaminase domain containing 1	373							hydrolase activity|zinc ion binding	p.S373Y(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		CCTGTTGGATCTGAGTATGCT	0.413000													34	115					4.31634e-10	6.77618e-10	0.002445	1	0
TPK1	27010	broad.mit.edu	37	7	144380027	144380027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:144380027C>G	ENST00000360057.3	-	4	262	c.160G>C	c.(160-162)Gat>Cat	p.D54H	TPK1_ENST00000538212.2_Missense_Mutation_p.M8I|TPK1_ENST00000378099.3_Missense_Mutation_p.D54H|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	54					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCGGTGATATCATATAAGCGG	0.378000													42	142					0	0	0.001951	0	0
SCN11A	11280	broad.mit.edu	37	3	38991702	38991702	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:38991702C>T	ENST00000302328.3	-	1	350	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	SCN11A_ENST00000444237.2_Missense_Mutation_p.R51Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.R51Q|SCN11A_ENST00000450244.1_Missense_Mutation_p.R51Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	51					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGCTGAGGCCGAGGCTGGGG	0.522000													13	157					0	0	0.003163	0	0
XIRP1	165904	broad.mit.edu	37	3	39227860	39227860	+	Missense_Mutation	SNP	C	C	G	rs139499086	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:39227860C>G	ENST00000340369.3	-	2	3305	c.3077G>C	c.(3076-3078)gGa>gCa	p.G1026A	XIRP1_ENST00000396251.1_Missense_Mutation_p.G1026A|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1026							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCCTTTCTGTCCAGAGTGACT	0.607000													14	56					0	0	0.002450	0	0
ATP2B4	493	broad.mit.edu	37	1	203696681	203696681	+	Silent	SNP	G	G	A	rs113186728	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:203696681G>A	ENST00000357681.5	+	20	4414	c.3291G>A	c.(3289-3291)ctG>ctA	p.L1097L	ATP2B4_ENST00000391954.2_Silent_p.L1061L|ATP2B4_ENST00000367218.3_Silent_p.L1097L|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Silent_p.L1085L|ATP2B4_ENST00000341360.2_Silent_p.L1097L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1097	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGGGGCCTGAACCGTATCC	0.562000													32	75					0	0	0.001786	0	0
ATN1	1822	broad.mit.edu	37	12	7047686	7047686	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:7047686C>G	ENST00000356654.4	+	7	2797	c.2560C>G	c.(2560-2562)Ctg>Gtg	p.L854V	ATN1_ENST00000396684.2_Missense_Mutation_p.L854V	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	854					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ATGCCCATCTCTGGGCCCAGT	0.607000											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	42					0	0	0.006214	0	0
SPNS2	124976	broad.mit.edu	37	17	4436304	4436304	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4436304C>T	ENST00000329078.3	+	7	1178	c.968C>T	c.(967-969)tCg>tTg	p.S323L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	323					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						CTGGCCACGTCGGCTGTCTCC	0.662000													15	51					0	0	0.002450	0	0
RMDN3	55177	broad.mit.edu	37	15	41030186	41030186	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:41030186G>A	ENST00000260385.6	-	8	2169	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	RMDN3_ENST00000338376.3_Missense_Mutation_p.L368F|RMDN3_ENST00000558560.1_5'UTR					regulator of microtubule dynamics 3																		CTGCCAAGAAGAAAGTGAGCC	0.458000													38	164					0	0	0.007835	0	0
NBAS	51594	broad.mit.edu	37	2	15629092	15629092	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:15629092G>A	ENST00000281513.5	-	12	1034	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	NBAS_ENST00000441750.1_Missense_Mutation_p.H337Y	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	337										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCTGAGAAGTGAATGGCTGCC	0.448000													14	62					0	0	0.001855	0	0
FZD9	8326	broad.mit.edu	37	7	72849297	72849297	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849297C>G	ENST00000344575.3	+	1	1189	c.960C>G	c.(958-960)ctC>ctG	p.L320L		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	320					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTACTGCTCTACTACTTCG	0.667000													14	62					0	0	0.002450	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252092	26252092	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:26252092G>C	ENST00000356350.2	+	1	214	c.214G>C	c.(214-216)Gag>Cag	p.E72Q		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	72					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGATATCTTCGAGCGCATCGC	0.577000													22	142					0	0	0.001882	0	0
CLEC4F	165530	broad.mit.edu	37	2	71043722	71043722	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:71043722A>G	ENST00000272367.2	-	4	867	c.791T>C	c.(790-792)gTc>gCc	p.V264A	CLEC4F_ENST00000426626.1_Missense_Mutation_p.V264A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	264					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAAGTCATTGACACTATCTAG	0.428000													29	85					0	0	0.007291	0	0
SLC8B1	80024	broad.mit.edu	37	12	113758155	113758155	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:113758155G>A	ENST00000552014.1	-	8	1190	c.675C>T	c.(673-675)gtC>gtT	p.V225V	SLC24A6_ENST00000202831.3_Silent_p.V225V|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000546737.1_Intron			Q6J4K2	NCKX6_HUMAN		225					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						ATGCCAGGGTGACCCTGCCAC	0.602000													44	159					0	0	0.003214	0	0
WDR52	55779	broad.mit.edu	37	3	113152421	113152421	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:113152421C>G	ENST00000393845.2	-	2	157	c.91G>C	c.(91-93)Gaa>Caa	p.E31Q	WDR52_ENST00000295868.2_Missense_Mutation_p.E31Q|WDR52-AS1_ENST00000498480.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	31										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CATCTTGATTCTGATTTAGAA	0.313000													17	65					0	0	0.006122	0	0
IL18R1	8809	broad.mit.edu	37	2	102984411	102984411	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:102984411C>T	ENST00000409599.1	+	4	541	c.185C>T	c.(184-186)tCa>tTa	p.S62L	IL18R1_ENST00000233957.1_Missense_Mutation_p.S62L|IL18R1_ENST00000334376.3_Missense_Mutation_p.S62L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	62	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.S62L(1)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCAGTGGATCACAGGAACAT	0.443000													15	45					0	0	0.002450	0	0
GNAL	2774	broad.mit.edu	37	18	11752499	11752499	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:11752499G>A	ENST00000423027.3	+	1	388	c.67G>A	c.(67-69)Gag>Aag	p.E23K	GNAL_ENST00000269162.5_Missense_Mutation_p.E23K|GNAL_ENST00000535121.1_Missense_Mutation_p.E23K|GNAL_ENST00000334049.6_Intron			P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	23					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						AGAACGACGCGAGGCCAACAA	0.612000													18	71					0	0	0.006122	0	0
MX1	4599	broad.mit.edu	37	21	42824567	42824567	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:42824567G>C	ENST00000398600.2	+	18	2554	c.1529G>C	c.(1528-1530)aGa>aCa	p.R510T	MX1_ENST00000455164.2_Missense_Mutation_p.R510T|MX1_ENST00000398598.3_Missense_Mutation_p.R510T|MX1_ENST00000288383.6_Missense_Mutation_p.R487T	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	510					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GAAGACATTAGAGCAGAACAA	0.428000													17	71					0	0	0.006122	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74722220	74722220	+	Silent	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74722220A>T	ENST00000380494.5	-	5	1109	c.816T>A	c.(814-816)tcT>tcA	p.S272S	COL4A3BP_ENST00000261415.7_Silent_p.S144S|COL4A3BP_ENST00000405807.4_Silent_p.S144S	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	144					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		TGGATGTTGCAGAGTAGCCAC	0.398000													6	82					0	0	0.004482	0	0
GRP	2922	broad.mit.edu	37	18	56897646	56897646	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:56897646C>G	ENST00000529320.2	+	3	468	c.374C>G	c.(373-375)tCt>tGt	p.S125C	GRP_ENST00000256857.2_Silent_p.L131L|GRP_ENST00000420468.2_Intron	NM_001012513.1	NP_001012531.1	P07492	GRP_HUMAN	gastrin-releasing peptide	0					neuropeptide signaling pathway	extracellular space	neuropeptide hormone activity			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				TTGGTAGACTCTCTGCTCCAG	0.423000													13	59					0	0	0.002450	0	0
DMD	1756	broad.mit.edu	37	X	32366610	32366610	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:32366610G>T	ENST00000357033.4	-	38	5567	c.5361C>A	c.(5359-5361)aaC>aaA	p.N1787K	DMD_ENST00000378677.2_Missense_Mutation_p.N1783K	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	1787	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)				GTATATCTGAGTTAAACTGCT	0.333000													9	40					1.12685e-05	1.66743e-05	0.004482	1	0
OR13A1	79290	broad.mit.edu	37	10	45799190	45799190	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:45799190C>T	ENST00000553795.1	-	4	989	c.681G>A	c.(679-681)gtG>gtA	p.V227V	OR13A1_ENST00000374401.2_Silent_p.V227V|OR13A1_ENST00000536058.1_Silent_p.V227V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCAGGAAGTTCACTATGCCGT	0.552000													14	83					0	0	0.003163	0	0
IGKV2D-29	28882	broad.mit.edu	37	2	89986918	89986918	+	RNA	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:89986918C>A	ENST00000491977.1	+	0	229																											GAAGCCAGGCCAGCCTCCACA	0.532000													11	49					6.40141e-05	9.37732e-05	0.000978	1	0
PLA2G4D	283748	broad.mit.edu	37	15	42375422	42375422	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:42375422C>G	ENST00000290472.3	-	8	740	c.646G>C	c.(646-648)Gag>Cag	p.E216Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	216					phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCTCTGTCTCTAGGGCTGCC	0.632000													10	37					0	0	0.006214	0	0
C9orf171	389799	broad.mit.edu	37	9	135413023	135413023	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:135413023G>T	ENST00000343036.2	+	5	716	c.668G>T	c.(667-669)cGg>cTg	p.R223L	C9orf171_ENST00000393216.2_Missense_Mutation_p.R187L	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	223								p.R223Q(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCAGCACCGGTACCTGCAG	0.572000													21	94					5.45024e-15	8.87437e-15	0.003330	1	0
CELSR1	9620	broad.mit.edu	37	22	46780555	46780555	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46780555G>T	ENST00000262738.3	-	20	6767	c.6768C>A	c.(6766-6768)ttC>ttA	p.F2256L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2256					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCGTAAAGTTGAACTTGTCAA	0.522000													7	37					0.000274275	0.000400442	0.004482	1	0
CYP4B1	1580	broad.mit.edu	37	1	47264771	47264771	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:47264771C>T	ENST00000271153.4	+	1	54	c.18C>T	c.(16-18)ctC>ctT	p.L6L	CYP4B1_ENST00000371919.4_Silent_p.L6L|CYP4B1_ENST00000371923.4_Silent_p.L6L|CYP4B1_ENST00000546128.1_Intron			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	6					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCAGCTTCCTCTCCCTGAGCT	0.572000													4	22					0	0	0.000248	0	0
AHI1	54806	broad.mit.edu	37	6	135787271	135787271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:135787271C>A	ENST00000367800.4	-	5	646	c.430G>T	c.(430-432)Gaa>Taa	p.E144*	AHI1_ENST00000327035.6_Nonsense_Mutation_p.E144*|AHI1_ENST00000457866.2_Nonsense_Mutation_p.E144*	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	144						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TCAGGAGTTTCCGGTTTCAGG	0.438000													37	107					3.03874e-20	5.00364e-20	0.003271	1	0
HNRNPUL2	221092	broad.mit.edu	37	11	62484600	62484600	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:62484600C>G	ENST00000301785.5	-	11	2034	c.1842G>C	c.(1840-1842)gaG>gaC	p.E614D	RP11-831H9.16_ENST00000403734.2_Missense_Mutation_p.E614D	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	614					cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTTCCTCCTTCTCCAGCTCCC	0.498000													3	41					0	0	0.004672	0	0
TRIP12	9320	broad.mit.edu	37	2	230653558	230653558	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:230653558C>T	ENST00000283943.5	-	31	4747	c.4569G>A	c.(4567-4569)atG>atA	p.M1523I	TRIP12_ENST00000389044.4_Missense_Mutation_p.M1571I|TRIP12_ENST00000389045.3_Missense_Mutation_p.M1253I	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1523	K-box.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGTTTCCTGTCATGATTACTA	0.378000													32	92					0	0	0.003271	0	0
ZNF714	148206	broad.mit.edu	37	19	21300910	21300910	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21300910C>G	ENST00000596143.1	+	5	1765	c.1440C>G	c.(1438-1440)taC>taG	p.Y480*	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AGAAATCTTACAAATGTGAAG	0.393000													10	35					0	0	0.000978	0	0
TJP1	7082	broad.mit.edu	37	15	30008860	30008860	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:30008860G>A	ENST00000346128.6	-	23	4631	c.4157C>T	c.(4156-4158)cCa>cTa	p.P1386L	TJP1_ENST00000400011.2_Missense_Mutation_p.P1310L|TJP1_ENST00000356107.6_Missense_Mutation_p.P1386L|TJP1_ENST00000545208.2_Missense_Mutation_p.P1306L	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1386					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		AGAATGCGCTGGCTTTGCAGG	0.408000													12	43					0	0	0.001855	0	0
SLC7A13	157724	broad.mit.edu	37	8	87230021	87230021	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr8:87230021G>A	ENST00000297524.3	-	3	960	c.857C>T	c.(856-858)tCa>tTa	p.S286L	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.S277L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	286						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CCATGCTAATGAGGGAAAAGC	0.333000													27	73					0	0	0.004656	0	0
INO80	54617	broad.mit.edu	37	15	41350928	41350928	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:41350928G>A	ENST00000361937.3	-	16	2318	c.1894C>T	c.(1894-1896)Cag>Tag	p.Q632*	INO80_ENST00000401393.3_Nonsense_Mutation_p.Q632*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	632	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCACCAGCTGATAGCTGGTA	0.453000													21	71					0	0	0.002299	0	0
MCM3AP	8888	broad.mit.edu	37	21	47665030	47665030	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:47665030C>T	ENST00000397708.1	-	24	4983	c.4729G>A	c.(4729-4731)Gaa>Aaa	p.E1577K	MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.E1577K|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1577					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					ATCCCGTCTTCGACGTACTGA	0.542000													16	56					0	0	0.004990	0	0
ACRC	93953	broad.mit.edu	37	X	70824232	70824232	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:70824232G>A	ENST00000373695.1	+	7	1642	c.1105G>A	c.(1105-1107)Gat>Aat	p.D369N	ACRC_ENST00000373696.3_Missense_Mutation_p.D369N			Q96QF7	ACRC_HUMAN	acidic repeat containing	369						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TTCATCTGATGATGCTGGTGA	0.483000													11	43					0	0	0.000673	0	0
PRC1	9055	broad.mit.edu	37	15	91522476	91522476	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:91522476C>T	ENST00000361188.5	-	8	2230	c.1019G>A	c.(1018-1020)cGg>cAg	p.R340Q	PRC1_ENST00000361919.3_Missense_Mutation_p.R340Q|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.R340Q|PRC1_ENST00000442656.2_Missense_Mutation_p.R299Q			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	340	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTTTTTTAACCGCACAATCTC	0.413000													8	66					0	0	0.003080	0	0
RASA2	5922	broad.mit.edu	37	3	141292835	141292835	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:141292835C>G	ENST00000286364.3	+	14	1444	c.1409C>G	c.(1408-1410)tCa>tGa	p.S470*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.S470*			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	470	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATTGTAAAATCAAGTATGAGC	0.348000													7	36					0	0	0.001984	0	0
CSNK1E	1454	broad.mit.edu	37	22	38690154	38690154	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:38690154G>A	ENST00000396832.1	-	9	1439	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	CSNK1E_ENST00000359867.3_Silent_p.L393L|CSNK1E_ENST00000403904.1_Silent_p.L393L|CSNK1E_ENST00000400206.2_Silent_p.L393L	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	393					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCCGCCCAGTGAGGTCTGAGG	0.647000													6	38					0	0	0.001168	0	0
CXCR2	3579	broad.mit.edu	37	2	218999995	218999995	+	Missense_Mutation	SNP	G	G	C	rs146545386		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:218999995G>C	ENST00000318507.2	+	3	898	c.471G>C	c.(469-471)caG>caC	p.Q157H		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	157					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CACTGACCCAGAAGCGCTACT	0.527000													15	36					0	0	0.003163	0	0
FZD9	8326	broad.mit.edu	37	7	72849453	72849453	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:72849453C>T	ENST00000344575.3	+	1	1345	c.1116C>T	c.(1114-1116)gtC>gtT	p.V372V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	372					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGACCATCGTCATCCTGACCC	0.662000													24	42					0	0	0.002299	0	0
TTC32	130502	broad.mit.edu	37	2	20101573	20101573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:20101573C>T	ENST00000333610.3	-	1	174	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TTC32_ENST00000402414.1_Missense_Mutation_p.A15T	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	15							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAGCCTGGGCGAGTGTTAGG	0.597000													10	82					0	0	0.000673	0	0
MARS2	92935	broad.mit.edu	37	2	198570406	198570406	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570406G>C	ENST00000282276.6	+	1	320	c.277G>C	c.(277-279)Gac>Cac	p.D93H	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	93					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CACTGGTACCGACGAGCACGG	0.667000													8	26					0	0	0.003080	0	0
ZNF430	80264	broad.mit.edu	37	19	21240040	21240040	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:21240040G>C	ENST00000261560.5	+	5	1107	c.926G>C	c.(925-927)aGa>aCa	p.R309T		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACACATAAAAGAATTCATACT	0.398000													21	75					0	0	0.002299	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657509	46657509	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:46657509C>G	ENST00000253255.5	-	1	1710	c.1711G>C	c.(1711-1713)Gct>Cct	p.A571P		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	571	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTCCTTTAGCTGGATTAATT	0.368000													7	51					0	0	0.001984	0	0
FOXJ3	22887	broad.mit.edu	37	1	42744162	42744162	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:42744162C>G	ENST00000372572.1	-	5	537	c.226G>C	c.(226-228)Gat>Cat	p.D76H	FOXJ3_ENST00000372573.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361776.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000361346.1_Missense_Mutation_p.D76H|FOXJ3_ENST00000545068.1_Missense_Mutation_p.D76H	NM_001198851.1	NP_001185780.1	Q9UPW0	FOXJ3_HUMAN	forkhead box J3	76					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGTTTCCCATCTTTGTGCTGT	0.388000													15	78					0	0	0.003163	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543569	141543569	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:141543569T>A	ENST00000442267.2	-	21	3655	c.3581A>T	c.(3580-3582)cAg>cTg	p.Q1194L		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1194						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGCCGTGCCCTGGCCGCTCCG	0.667000													6	32					0	0	0.001168	0	0
RIPK4	54101	broad.mit.edu	37	21	43161791	43161791	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:43161791C>T	ENST00000352483.2	-	9	1770	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	RIPK4_ENST00000544709.1_Missense_Mutation_p.R458Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.R521Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.R458Q			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	521						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R569Q(1)|p.R521Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACAGCAGCCGTGTGCTAGA	0.627000													9	44					0	0	0.006214	0	0
LLGL2	3993	broad.mit.edu	37	17	73564865	73564865	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:73564865G>C	ENST00000392550.3	+	12	1384	c.1267G>C	c.(1267-1269)Gat>Cat	p.D423H	LLGL2_ENST00000167462.5_Missense_Mutation_p.D423H|LLGL2_ENST00000577200.1_Missense_Mutation_p.D423H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	423					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTGGCCAATTGATGGTGGCAC	0.597000													6	40					0	0	0.001168	0	0
DUSP6	1848	broad.mit.edu	37	12	89745576	89745576	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:89745576C>T	ENST00000279488.7	-	1	1472	c.241G>A	c.(241-243)Gag>Aag	p.E81K	DUSP6_ENST00000308385.6_Missense_Mutation_p.E81K	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	81	Rhodanese.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TCCCGGTCCTCGCCGCGCGTG	0.677000													4	28					0	0	0.000602	0	0
COQ5	84274	broad.mit.edu	37	12	120941685	120941685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:120941685C>T	ENST00000288532.6	-	7	926	c.886G>A	c.(886-888)Gag>Aag	p.E296K	COQ5_ENST00000445328.2_Missense_Mutation_p.E222K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	296					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTTGAACTCTTCCTGAAAC	0.413000													20	70					0	0	0.007413	0	0
RAB8B	51762	broad.mit.edu	37	15	63481934	63481934	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:63481934C>T	ENST00000321437.4	+	1	267	c.111C>T	c.(109-111)ttC>ttT	p.F37F	RAB8B_ENST00000448330.2_Silent_p.F37F	NM_016530.2	NP_057614.1	Q92930	RAB8B_HUMAN	RAB8B, member RAS oncogene family	37					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						ACACCACCTTCATCTCCACCA	0.647000													9	35					0	0	0.000673	0	0
SCAND3	114821	broad.mit.edu	37	6	28554275	28554275	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:28554275G>A	ENST00000452236.2	-	1	837	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	74	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CAAAGTTCCCGCAGTTGACTC	0.542000													17	77					0	0	0.006122	0	0
BCL11A	53335	broad.mit.edu	37	2	60687704	60687704	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:60687704C>G	ENST00000335712.6	-	4	2570	c.2343G>C	c.(2341-2343)caG>caC	p.Q781H	BCL11A_ENST00000358510.4_Missense_Mutation_p.Q747H|BCL11A_ENST00000538214.1_Missense_Mutation_p.Q747H|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	781					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GCTTGCTACTCTGGGCACAGG	0.493000			T	IGH@	B-CLL								22	71					0	0	0.001882	0	0
DNMT1	1786	broad.mit.edu	37	19	10254621	10254621	+	Silent	SNP	G	G	A	rs150359172	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:10254621G>A	ENST00000340748.4	-	28	3124	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P	DNMT1_ENST00000359526.4_Silent_p.P979P|DNMT1_ENST00000540357.1_Silent_p.P963P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	963					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCTCATCCACGGGCTCCTTCC	0.562000													25	141					0	0	0.004656	0	0
XKR3	150165	broad.mit.edu	37	22	17288845	17288845	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr22:17288845G>C	ENST00000331428.5	-	2	221	c.119C>G	c.(118-120)tCa>tGa	p.S40*		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	40						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAGAACAGTTGAGAAGATAAT	0.388000													15	59					0	0	0.004007	0	0
RABL3	285282	broad.mit.edu	37	3	120413005	120413005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:120413005C>G	ENST00000273375.3	-	6	630	c.601G>C	c.(601-603)Gat>Cat	p.D201H	RABL3_ENST00000483733.1_Intron|RABL3_ENST00000491398.1_5'UTR	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	201	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ATTACCTTATCAAAAAACCTA	0.299000													33	95					0	0	0.004289	0	0
OR1S1	219959	broad.mit.edu	37	11	57982300	57982300	+	Silent	SNP	G	G	T	rs139788490		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:57982300G>T	ENST00000309433.6	+	1	84	c.84G>T	c.(82-84)ctG>ctT	p.L28L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCATTCTCCTGGGATTTTTCA	0.423000													10	108					1.76689e-08	2.73463e-08	0.006214	1	0
ZFP3	124961	broad.mit.edu	37	17	4996049	4996049	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:4996049G>T	ENST00000318833.3	+	2	1586	c.1250G>T	c.(1249-1251)gGa>gTa	p.G417V		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						ATTCATACTGGAGAGAAACCC	0.428000													15	63					2.61681e-11	4.19841e-11	0.002450	1	0
KIAA0319	9856	broad.mit.edu	37	6	24596166	24596166	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:24596166C>G	ENST00000535378.1	-	4	1351	c.709G>C	c.(709-711)Gag>Cag	p.E237Q	KIAA0319_ENST00000537886.1_Missense_Mutation_p.E246Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E201Q|KIAA0319_ENST00000378214.3_Missense_Mutation_p.E246Q|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E246Q	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	246					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCCAACACCTCTCCTGAAGAT	0.527000													20	91					0	0	0.001216	0	0
FAM169A	26049	broad.mit.edu	37	5	74077286	74077286	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:74077286C>G	ENST00000389156.4	-	13	2102	c.2012G>C	c.(2011-2013)tGa>tCa	p.*671S	FAM169A_ENST00000510496.1_Nonstop_Mutation_p.*611S|FAM169A_ENST00000380515.3_3'UTR	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	0										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						CTTCTTCCTTCAGGTCAGCTT	0.388000													29	120					0	0	0.002096	0	0
NSD1	64324	broad.mit.edu	37	5	176721768	176721768	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:176721768G>C	ENST00000439151.2	+	23	7444	c.7399G>C	c.(7399-7401)Gag>Cag	p.E2467Q	NSD1_ENST00000361032.4_Missense_Mutation_p.E2364Q|NSD1_ENST00000347982.4_Missense_Mutation_p.E2198Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E2198Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2467					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		TCGCCAGAAGGAGCGGGCAGC	0.502000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			13	60					0	0	0.002450	0	0
ATP11C	286410	broad.mit.edu	37	X	138871517	138871517	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:138871517C>T	ENST00000370557.1	-	13	2364	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	ATP11C_ENST00000361648.2_Missense_Mutation_p.G449E|ATP11C_ENST00000370543.1_Missense_Mutation_p.G449E|ATP11C_ENST00000359686.2_Missense_Mutation_p.G449E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.G449E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	449					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGTTAAAGTTCCATCAGTTTG	0.328000													11	44					0	0	0.001368	0	0
MGAT5	4249	broad.mit.edu	37	2	135093845	135093845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:135093845G>A	ENST00000409645.1	+	6	883	c.631G>A	c.(631-633)Gat>Aat	p.D211N	MGAT5_ENST00000281923.2_Missense_Mutation_p.D211N			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	211					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CGAAGAAGCTGATCATAATTC	0.363000													11	20					0	0	0.000978	0	0
LZTFL1	54585	broad.mit.edu	37	3	45874556	45874556	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:45874556C>T	ENST00000296135.6	-	5	616	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	LZTFL1_ENST00000536047.1_Missense_Mutation_p.E131K|LZTFL1_ENST00000490463.1_5'UTR|LZTFL1_ENST00000539217.1_Missense_Mutation_p.E144K	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	148										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		TTTAGGAGTTCTGCTGTTCCA	0.383000													9	80					0	0	0.004482	0	0
MACF1	23499	broad.mit.edu	37	1	39826464	39826464	+	Splice_Site	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:39826464G>C	ENST00000564288.1	+	48	13021		c.e48-1		MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000372915.3_Splice_Site|MACF1_ENST00000476350.1_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGATTTTTCAGATTCCATACT	0.348000													8	36					0	0	0.006214	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			8	25					0	0	0.004482	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299536	125299536	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:125299536G>A	ENST00000538699.1	-	2	452	c.372C>T	c.(370-372)gaC>gaT	p.D124D	DCAF12L2_ENST00000360028.2_Silent_p.D124D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	124										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGACTGCACGTCCACCACAA	0.642000													11	91					0	0	0.000673	0	0
TSGA10	80705	broad.mit.edu	37	2	99695250	99695250	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:99695250G>C	ENST00000393483.3	-	12	1598	c.754C>G	c.(754-756)Cag>Gag	p.Q252E	TSGA10_ENST00000478090.1_Intron|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000542655.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q252E|TSGA10_ENST00000355053.4_Missense_Mutation_p.Q252E	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	252					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TCTTCTCGCTGTGCAATATTT	0.328000													4	32					0	0	0.000248	0	0
VASH2	79805	broad.mit.edu	37	1	213147383	213147383	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:213147383C>T	ENST00000366968.4	+	8	1121	c.771C>T	c.(769-771)ccC>ccT	p.P257P	VASH2_ENST00000366965.2_Silent_p.P278P|VASH2_ENST00000366966.2_Silent_p.P257P|VASH2_ENST00000271776.4_3'UTR|VASH2_ENST00000366967.2_Silent_p.P218P|VASH2_ENST00000517399.1_Silent_p.P322P	NM_001136474.1	NP_001129946.1	Q86V25	VASH2_HUMAN	vasohibin 2	322					positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	cytoplasm				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986)		AGGCAAGCCCCCCGAGGAGGC	0.577000													5	56					0	0	0.001168	0	0
CACNA1E	777	broad.mit.edu	37	1	181727186	181727186	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:181727186C>T	ENST00000526775.1	+	30	4541	c.4376C>T	c.(4375-4377)cCg>cTg	p.P1459L	CACNA1E_ENST00000358338.5_Missense_Mutation_p.P1410L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.P1478L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.P1429L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.P1459L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.P1478L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.P1085L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1478					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P1478L(2)		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						GTGGTGTCTCCGTCCTTTGAG	0.557000													20	85					0	0	0.007413	0	0
SHC3	53358	broad.mit.edu	37	9	91653163	91653163	+	Silent	SNP	G	G	T	rs146503115		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:91653163G>T	ENST00000375835.4	-	11	1707	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P	SHC3_ENST00000375830.1_Silent_p.P15P|SHC3_ENST00000375831.1_Silent_p.P15P	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	467	CH1.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGCTTAACACGGGCCCCAAGG	0.502000													19	69					2.4624e-09	3.82457e-09	0.001216	1	0
RAB23	51715	broad.mit.edu	37	6	57075104	57075104	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:57075104C>A	ENST00000317483.3	-	2	694	c.75G>T	c.(73-75)atG>atT	p.M25I	RAB23_ENST00000468148.1_Missense_Mutation_p.M25I	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	25					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATCGCTGAATCATACTTGATT	0.378000													21	79					7.45023e-12	1.19971e-11	0.001523	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65349905	65349905	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:65349905G>C	ENST00000309295.4	+	9	2027	c.1762G>C	c.(1762-1764)Gaa>Caa	p.E588Q		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	588	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCAGGAGAAAGAAGTTGAGGG	0.562000													8	43					0	0	0.003080	0	0
ZNF536	9745	broad.mit.edu	37	19	30935952	30935952	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:30935952G>A	ENST00000355537.3	+	2	1630	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCAATCTCGTGCCGCCGCT	0.657000													18	66					0	0	0.007413	0	0
ABCA4	24	broad.mit.edu	37	1	94526123	94526123	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:94526123C>T	ENST00000370225.3	-	14	2216	c.2130G>A	c.(2128-2130)atG>atA	p.M710I	ABCA4_ENST00000535735.1_Missense_Mutation_p.M710I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	710					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGAAGATGCTCATCGACATGA	0.463000													20	75					0	0	0.001523	0	0
LRBA	987	broad.mit.edu	37	4	151271210	151271210	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:151271210C>G	ENST00000535741.1	-	48	7769	c.7296G>C	c.(7294-7296)gtG>gtC	p.V2432V	LRBA_ENST00000510413.1_Silent_p.V2432V|LRBA_ENST00000507224.1_Silent_p.V2432V|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000357115.3_Silent_p.V2443V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2443	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AGTAATAGAACACATTGAGGG	0.413000													8	34					0	0	0.003080	0	0
PTRF	284119	broad.mit.edu	37	17	40557194	40557194	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:40557194G>A	ENST00000357037.5	-	2	1103	c.684C>T	c.(682-684)cgC>cgT	p.R228R		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	228					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGTCGTCCACGCGCCGCAGGC	0.612000													27	111					0	0	0.004656	0	0
MEIS3	56917	broad.mit.edu	37	19	47910822	47910822	+	Splice_Site	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:47910822C>G	ENST00000331559.5	-	9	1250	c.807_splice	c.e9-1	p.R270_splice	MEIS3_ENST00000441740.2_Intron|MEIS3_ENST00000561293.1_Splice_Site_p.R287_splice|MEIS3_ENST00000561096.1_Intron|MEIS3_ENST00000560253.1_Intron|MEIS3_ENST00000559524.1_Splice_Site_p.R287_splice|MEIS3_ENST00000558555.1_Intron	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	286						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-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;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TTCTGAGCGTCTCTGCGCTCC	0.662000													4	7					0	0	0.000248	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717244	142717244	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:142717244C>T	ENST00000381779.4	-	2	1906	c.1681G>A	c.(1681-1683)Gag>Aag	p.E561K	SLITRK4_ENST00000356928.1_Missense_Mutation_p.E561K|SLITRK4_ENST00000338017.4_Missense_Mutation_p.E561K	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	561	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGGCGTCTCACATTTCAGT	0.458000													35	123					0	0	0.003271	0	0
HIST2H3D	653604	broad.mit.edu	37	1	149785051	149785051	+	Silent	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:149785051C>G	ENST00000331491.1	-	1	185	c.186G>C	c.(184-186)ctG>ctC	p.L62L		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	62					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GCTTGCGGATCAGCAGCTCCG	0.692000													12	29					0	0	0.007413	0	0
MARS2	92935	broad.mit.edu	37	2	198570421	198570421	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:198570421A>C	ENST00000282276.6	+	1	335	c.292A>C	c.(292-294)Aag>Cag	p.K98Q	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	98					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	GCACGGGCTGAAGATTCAGCA	0.672000													8	31					0	0	0.003080	0	0
LRRC66	339977	broad.mit.edu	37	4	52860807	52860807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:52860807G>C	ENST00000343457.3	-	4	2387	c.2381C>G	c.(2380-2382)tCt>tGt	p.S794C		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	794						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCAGTGTCAGAGGCATTTTC	0.473000													4	32					0	0	0.000248	0	0
ANKRD35	148741	broad.mit.edu	37	1	145560245	145560245	+	Missense_Mutation	SNP	G	G	A	rs146006151	byFrequency	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:145560245G>A	ENST00000355594.4	+	8	818	c.731G>A	c.(730-732)cGg>cAg	p.R244Q	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	244										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGAGCCGGCGGCGGCGG	0.552000													17	62					0	0	0.007413	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32612233	32612233	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:32612233G>A	ENST00000273130.4	-	1	133	c.30C>T	c.(28-30)ttC>ttT	p.F10F	DYNC1LI1_ENST00000432458.2_Silent_p.F10F	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	10					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GAGAAGAACCGAAGGAGCCGA	0.672000													5	21					0	0	0.001168	0	0
FHOD1	29109	broad.mit.edu	37	16	67272351	67272351	+	Splice_Site	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:67272351C>T	ENST00000258201.4	-	4	621		c.e4-1		FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TACAGCTTTTCTGCAAAAGGT	0.502000													4	21					0	0	0.000248	0	0
DPYD	1806	broad.mit.edu	37	1	98039322	98039322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:98039322G>A	ENST00000370192.3	-	11	1433	c.1333C>T	c.(1333-1335)Cct>Tct	p.P445S		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	445					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GTACCTTTAGGATCACTCAGA	0.398000													24	77					0	0	0.003330	0	0
HFM1	164045	broad.mit.edu	37	1	91727882	91727882	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:91727882G>C	ENST00000370425.3	-	38	4252	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	HFM1_ENST00000370424.3_Missense_Mutation_p.S1064C|HFM1_ENST00000294696.5_3'UTR|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1385							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTTTTTTCAGAGAAAGTAAA	0.279000													21	84					0	0	0.001523	0	0
TRAK1	22906	broad.mit.edu	37	3	42229593	42229593	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:42229593C>T	ENST00000327628.5	+	5	937	c.537C>T	c.(535-537)acC>acT	p.T179T	TRAK1_ENST00000449246.1_Silent_p.T105T|TRAK1_ENST00000396175.1_Silent_p.T121T|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.T121T	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	179	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						AGTTCTACACCAGCGCTGCGG	0.577000													22	136					0	0	0.002780	0	0
C2orf53	339779	broad.mit.edu	37	2	27360067	27360067	+	Silent	SNP	A	A	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:27360067A>G	ENST00000335524.3	-	3	1656	c.1131T>C	c.(1129-1131)ccT>ccC	p.P377P		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	377										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCGAGGTGGAGGCCCGGAGA	0.607000													3	111					0	0	0.004672	0	0
PLK1	5347	broad.mit.edu	37	16	23698820	23698820	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:23698820G>A	ENST00000300093.4	+	6	1178	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	CTD-2196E14.5_ENST00000566143.1_RNA	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	356					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCGTCCCCGGGAAAAAGAA	0.592000													10	136					0	0	0.000978	0	0
PCDH1	5097	broad.mit.edu	37	5	141243981	141243981	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:141243981C>T	ENST00000287008.3	-	3	2062	c.1915G>A	c.(1915-1917)Gga>Aga	p.G639R	PCDH1_ENST00000456271.1_Missense_Mutation_p.G627R|PCDH1_ENST00000536585.1_Missense_Mutation_p.G617R|PCDH1_ENST00000394536.3_Missense_Mutation_p.G639R|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	639	Cadherin 6.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCCTTGTCTCCATCAATGACA	0.517000													16	62					0	0	0.004007	0	0
CNNM2	54805	broad.mit.edu	37	10	104678683	104678683	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr10:104678683G>C	ENST00000369878.3	+	1	570	c.446G>C	c.(445-447)cGa>cCa	p.R149P	CNNM2_ENST00000433628.2_Missense_Mutation_p.R149P|CNNM2_ENST00000369875.3_Missense_Mutation_p.R149P	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2	149					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGCCCCCAGCGATGCGGCATC	0.692000													36	114					0	0	0.003755	0	0
SLC26A8	116369	broad.mit.edu	37	6	35980126	35980126	+	Missense_Mutation	SNP	C	C	T	rs116146081	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:35980126C>T	ENST00000490799.1	-	3	565	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	SLC26A8_ENST00000394602.2_Missense_Mutation_p.R71Q|SLC26A8_ENST00000355574.2_Missense_Mutation_p.R71Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	71					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AAGCACGCATCGTAGGAACCT	0.463000													17	94					0	0	0.007413	0	0
NCAM2	4685	broad.mit.edu	37	21	22710789	22710789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:22710789G>A	ENST00000400546.1	+	8	1228	c.979G>A	c.(979-981)Gag>Aag	p.E327K	NCAM2_ENST00000535285.1_Missense_Mutation_p.E352K|NCAM2_ENST00000284894.7_Missense_Mutation_p.E185K	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	327	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCGGAAGGGGAGCCTATTCC	0.388000													8	16					0	0	0.003080	0	0
OSBPL3	26031	broad.mit.edu	37	7	24905839	24905839	+	Silent	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:24905839G>A	ENST00000313367.2	-	6	850	c.399C>T	c.(397-399)gtC>gtT	p.V133V	OSBPL3_ENST00000352860.1_Silent_p.V133V|OSBPL3_ENST00000431825.2_Silent_p.V133V|OSBPL3_ENST00000353930.1_Silent_p.V133V|OSBPL3_ENST00000396431.1_Silent_p.V133V|OSBPL3_ENST00000409069.1_Silent_p.V133V|OSBPL3_ENST00000396429.1_Silent_p.V133V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	133	PH.				lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTCATCAAAGACTTCTTCTG	0.388000													14	40					0	0	0.003163	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135720623	135720623	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:135720623C>A	ENST00000264977.3	+	2	900	c.283C>A	c.(283-285)Ccc>Acc	p.P95T	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	95					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACAGGCATACCCAGGGTCAA	0.423000													9	45					7.48243e-07	1.12236e-06	0.006214	1	0
TTN	7273	broad.mit.edu	37	2	179450071	179450071	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:179450071G>A	ENST00000589042.1	-	309	64624	c.64400C>T	c.(64399-64401)cCa>cTa	p.P21467L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P12527L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P12594L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P19826L|TTN_ENST00000460472.2_Missense_Mutation_p.P12402L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P18899L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19826	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATCTTTGGTGGCACTGAAAG	0.398000													25	97					0	0	0.003330	0	0
FEZF1	389549	broad.mit.edu	37	7	121943869	121943869	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:121943869G>A	ENST00000442488.2	-	1	690	c.623C>T	c.(622-624)gCg>gTg	p.A208V	FEZF1_ENST00000427185.2_Missense_Mutation_p.A158V|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.A208V	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	208					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTTCTCCACCGCCGGGACCAC	0.527000													17	54					0	0	0.006122	0	0
HEATR4	399671	broad.mit.edu	37	14	73989500	73989500	+	Silent	SNP	G	G	A	rs150475805		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:73989500G>A	ENST00000553558.1	-	3	678	c.357C>T	c.(355-357)ttC>ttT	p.F119F	HEATR4_ENST00000334988.2_Silent_p.F119F|HEATR4_ENST00000560393.1_Silent_p.F72F	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCAGGAACTTGAAGCTAACAG	0.488000													16	78					0	0	0.003163	0	0
ROBO1	6091	broad.mit.edu	37	3	78696802	78696802	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:78696802G>C	ENST00000436010.2	-	18	3696	c.2699C>G	c.(2698-2700)cCg>cGg	p.P900R	ROBO1_ENST00000495273.1_Intron|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.P939R			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	939					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGTAAAAGACGGGACTGAAAA	0.343000													61	232					0	0	0.003610	0	0
PEAK1	79834	broad.mit.edu	37	15	77473623	77473623	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:77473623C>G	ENST00000560626.2	-	4	1121	c.646G>C	c.(646-648)Gaa>Caa	p.E216Q	PEAK1_ENST00000312493.4_Missense_Mutation_p.E216Q|PEAK1_ENST00000558305.1_Missense_Mutation_p.E216Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	216					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTAATCACTTCTGTGCTCCCA	0.458000													34	126					0	0	0.004878	0	0
CTNS	1497	broad.mit.edu	37	17	3550808	3550808	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:3550808C>T	ENST00000046640.3	+	4	725	c.132C>T	c.(130-132)ctC>ctT	p.L44L	CTNS_ENST00000414524.2_Intron|CTNS_ENST00000381870.3_Silent_p.L44L|CTNS_ENST00000488623.1_3'UTR|CTNS_ENST00000399306.2_Silent_p.L44L|CTNS_ENST00000441220.2_Intron	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	44					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	ACGTCAGCCTCACCCTGCGGT	0.602000													7	27					0	0	0.003080	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	41					0	0	0.000248	0	0
UBA5	79876	broad.mit.edu	37	3	132387716	132387716	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr3:132387716T>A	ENST00000356232.4	+	4	1424	c.352T>A	c.(352-354)Ttc>Atc	p.F118I	UBA5_ENST00000494238.2_Missense_Mutation_p.F62I|UBA5_ENST00000264991.4_Missense_Mutation_p.F62I|UBA5_ENST00000493720.2_Missense_Mutation_p.F118I|UBA5_ENST00000473651.1_Missense_Mutation_p.F118I	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	118					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TAGACTTTTCTTCCAACCTCA	0.338000													30	95					0	0	0.002096	0	0
TAF1L	138474	broad.mit.edu	37	9	32630264	32630264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:32630264C>T	ENST00000242310.4	-	1	5403	c.5314G>A	c.(5314-5316)Gat>Aat	p.D1772N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1772					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.D1772N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTCCTCATCATCTTCTCCT	0.463000													25	103					0	0	0.004656	0	0
STAT6	6778	broad.mit.edu	37	12	57500498	57500498	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:57500498C>G	ENST00000300134.3	-	5	781	c.456G>C	c.(454-456)caG>caC	p.Q152H	STAT6_ENST00000454075.3_Missense_Mutation_p.Q152H|STAT6_ENST00000537215.2_Missense_Mutation_p.Q42H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q152H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q42H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q152H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	152					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAGCCCCCTTCTGCAGGGCTT	0.567000													55	122					0	0	0.003610	0	0
SPEN	23013	broad.mit.edu	37	1	16262721	16262721	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:16262721C>T	ENST00000375759.3	+	11	10190	c.9986C>T	c.(9985-9987)tCc>tTc	p.S3329F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3329	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGCCGCTTCCTCTGTTGGC	0.632000													7	57					0	0	0.004482	0	0
WDR4	10785	broad.mit.edu	37	21	44299516	44299516	+	Splice_Site	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:44299516C>A	ENST00000398208.2	-	1	149		c.e1+1		WDR4_ENST00000330317.2_Splice_Site	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4						tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGCCCCCTCACCTGCTTGCTA	0.706000													21	57					1.10923e-09	1.72898e-09	0.002780	1	0
SORBS2	8470	broad.mit.edu	37	4	186545417	186545417	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:186545417T>C	ENST00000431808.1	-	14	1717	c.1154A>G	c.(1153-1155)gAc>gGc	p.D385G	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.D289G|SORBS2_ENST00000355634.5_Missense_Mutation_p.D485G|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.D385G|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	385						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGGAGATCGTCACAGCTCCG	0.532000													12	36					0	0	0.000978	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													5	103					0	0	0.001168	0	0
ARHGAP4	393	broad.mit.edu	37	X	153178994	153178994	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:153178994C>T	ENST00000370028.3	-	10	1372	c.1315G>A	c.(1315-1317)Ggg>Agg	p.G439R	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.G378R|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.G399R|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.G376R|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.G221R	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	399					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCACATCCCCGTCATCCGAG	0.657000													25	68					0	0	0.004656	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379081	138379081	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:138379081G>C	ENST00000356818.2	+	4	3274	c.2725G>C	c.(2725-2727)Gag>Cag	p.E909Q	PPP1R26_ENST00000605660.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000401470.3_Missense_Mutation_p.E909Q|PPP1R26_ENST00000605286.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000604351.1_Missense_Mutation_p.E909Q|PPP1R26_ENST00000602993.1_Intron	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	909						nucleolus	protein binding										TCGAGGCACAGAGAGCGCAGG	0.706000													17	85					0	0	0.007413	0	0
ZNF710	374655	broad.mit.edu	37	15	90616485	90616485	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr15:90616485C>A	ENST00000268154.4	+	3	1892	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGAAGCCATTCAAATGCAAGG	0.602000													14	58					1.15088e-07	1.73822e-07	0.004007	1	0
MAST4	375449	broad.mit.edu	37	5	66409957	66409957	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:66409957G>C	ENST00000404260.3	+	12	1818	c.1510G>C	c.(1510-1512)Gaa>Caa	p.E504Q	MAST4_ENST00000405643.1_Missense_Mutation_p.E322Q|MAST4_ENST00000490016.2_Missense_Mutation_p.E312Q|MAST4_ENST00000403666.1_Missense_Mutation_p.E312Q|MAST4_ENST00000403625.2_Missense_Mutation_p.E501Q|MAST4_ENST00000261569.7_Missense_Mutation_p.E307Q			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	504						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGAAGCAGCAGAAGGCCATGC	0.438000													14	38					0	0	0.001855	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701579	56701579	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:56701579G>T	ENST00000586855.2	-	5	1418	c.1105C>A	c.(1105-1107)Cag>Aag	p.Q369K	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.Q369K			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	369					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATGCTTAGCTGGGAAAAATAC	0.547000													19	54					6.49762e-13	1.05406e-12	0.006122	1	0
ERAS	3266	broad.mit.edu	37	X	48687838	48687838	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:48687838A>T	ENST00000338270.1	+	1	556	c.305A>T	c.(304-306)cAt>cTt	p.H102L		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	102					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CAGGCCATCCATAGGGCCCTG	0.597000													20	83					0	0	0.002299	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197434	11197434	+	Missense_Mutation	SNP	T	T	C	rs147456861		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:11197434T>C	ENST00000337414.4	-	7	2340	c.1468A>G	c.(1468-1470)Atc>Gtc	p.I490V	ARHGAP6_ENST00000380736.1_Missense_Mutation_p.I287V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.I287V|ARHGAP6_ENST00000491514.1_5'UTR|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.I490V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.I522V|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.I315V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.I299V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	490	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGAGTGTTGATGAAAGCTGTG	0.483000													29	93					0	0	0.007291	0	0
SOS2	6655	broad.mit.edu	37	14	50655405	50655405	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr14:50655405A>C	ENST00000216373.5	-	5	798	c.524T>G	c.(523-525)aTg>aGg	p.M175R	SOS2_ENST00000543680.1_Missense_Mutation_p.M175R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	175					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CTGATCAAACATGTCCATCAA	0.313000													8	29					0	0	0.004482	0	0
LAMC3	10319	broad.mit.edu	37	9	133967144	133967144	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:133967144C>A	ENST00000361069.4	+	28	4831	c.4698C>A	c.(4696-4698)agC>agA	p.S1566R	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1566	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TTCTGCACAGCCTGCCCGAGA	0.632000													11	27					1.08611e-07	1.64607e-07	0.000978	1	0
MAN2B1	4125	broad.mit.edu	37	19	12776262	12776262	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr19:12776262G>A	ENST00000456935.2	-	3	380	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	MAN2B1_ENST00000221363.4_Missense_Mutation_p.R114C|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.R111C	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	114					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ATGAAGCGACGGGTGGGATCT	0.557000													25	93					0	0	0.004656	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649321	75649321	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chrX:75649321C>T	ENST00000361470.2	+	1	1276	c.998C>T	c.(997-999)cCg>cTg	p.P333L		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	333	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACCTCCGTGCCGCCCACCGCC	0.697000													9	32					0	0	0.006214	0	0
FOLH1	2346	broad.mit.edu	37	11	49214404	49214404	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:49214404C>A	ENST00000340334.7	-	5	777	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Nonsense_Mutation_p.E137*|FOLH1_ENST00000256999.2_Nonsense_Mutation_p.E152*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.E152*	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	152					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GAAACATTTTCATATCCTGGA	0.323000													9	108					1.61879e-10	2.55968e-10	0.001368	1	0
OR14J1	442191	broad.mit.edu	37	6	29274829	29274829	+	Silent	SNP	C	C	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr6:29274829C>T	ENST00000377160.2	+	1	427	c.363C>T	c.(361-363)taC>taT	p.Y121Y		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						ATGACAGGTACGCAGCAATCT	0.478000													29	87					0	0	0.007291	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	103					0	0	0.000602	0	0
ATAD3A	55210	broad.mit.edu	37	1	1463191	1463192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:1463191_1463192insG	ENST00000378755.5	+	14	1692_1693	c.1598_1599insG	c.(1597-1599)gagfs	p.E533fs	ATAD3A_ENST00000378756.3_Frame_Shift_Ins_p.E485fs|ATAD3A_ENST00000536055.1_Frame_Shift_Ins_p.E406fs	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	533							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		GAGCGCCTGGTGAGAATGTATT	0.589													24	121	---	---	---	---					
RP11-782C8.1	0	broad.mit.edu	37	1	143217265	143217266	+	RNA	INS	-	-	A			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:143217265_143217266insA	ENST00000438000.1	+	0	59																											GTTAGTAAAGCAAAAAAAAAAC	0.282													3	6	---	---	---	---					
BRINP3	339479	broad.mit.edu	37	1	190067931	190067941	+	Frame_Shift_Del	DEL	TCTGTCCGTTT	TCTGTCCGTTT	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr1:190067931_190067941delTCTGTCCGTTT	ENST00000367462.3	-	8	1739_1749	c.1508_1518delAAACGGACAGA	c.(1507-1518)afs	p.KTDR503fs	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Frame_Shift_Del_p.KTDR401fs	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		503						extracellular region		p.T504T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTTCTATTCGTCTGTCCGTTTTCTGCAGCAG	0.498													17	134	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89083945	89083946	+	RNA	INS	-	-	GC			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr2:89083945_89083946insGC	ENST00000393525.3	+	0	576																											GTATTCCTTTTTTTTCAGTGTA	0.347													2	4	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187541705	187541721	+	Frame_Shift_Del	DEL	AAAGGCTCATTGATTGG	AAAGGCTCATTGATTGG	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr4:187541705_187541721delAAAGGCTCATTGATTGG	ENST00000441802.2	-	10	6228_6244	c.6019_6035delCCAATCAATGAGCCTTT	c.(6019-6036)gfs	p.PINEPL2007fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2007	Cadherin 18.				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						GTGATAAAACAAAGGCTCATTGATTGGATTCCCAATA	0.465										HNSCC(5;0.00058)			24	204	---	---	---	---					
SKIV2L2	23517	broad.mit.edu	37	5	54637510	54637510	+	Splice_Site	DEL	T	T	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:54637510delT	ENST00000230640.5	+	7	946	c.690_splice	c.e7-1	p.I231_splice	SKIV2L2_ENST00000545714.1_Splice_Site_p.I130_splice	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	231	Helicase ATP-binding.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TTTCTTTAGATTTTGAGAAGT	0.294													14	33	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													4	3	---	---	---	---					
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs138239781	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA																							GGTGCGGGCCTCCCCCTTCCCC	0.639													4	4	---	---	---	---					
FABP5P3	220832	broad.mit.edu	37	7	152140120	152140121	+	RNA	INS	-	-	T	rs112177366		TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr7:152140120_152140121insT	ENST00000477993.1	+	0	875_876					NR_002935.1																						CTGTTTCTTTCTTTTTTTTTTC	0.327													2	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139409118	139409118	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr9:139409118delC	ENST00000277541.6	-	13	2126	c.2051delG	c.(2050-2052)gcfs	p.G684fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	684	EGF-like 18; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCAGGGGTTGCCCGCACACTC	0.662			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			8	24	---	---	---	---					
PCF11	51585	broad.mit.edu	37	11	82880841	82880841	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:82880841delA	ENST00000298281.4	+	8	3916	c.3464delA	c.(3463-3465)ctfs	p.H1155fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1155					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						TTCCAAAGACATGAACAAATA	0.418													16	42	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													2	4	---	---	---	---					
DPY19L2	283417	broad.mit.edu	37	12	64061889	64061890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr12:64061889_64061890insT	ENST00000324472.4	-	1	467_468	c.284_285insA	c.(283-285)agtfs	p.S95fs	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	95					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		GTTCCTGCACCTTTTCCCGGAG	0.609													8	125	---	---	---	---					
CCDC178	374864	broad.mit.edu	37	18	30913142	30913143	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6942-01A-21D-2012-08	TCGA-CV-6942-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5409f12-e438-4979-b40e-120899c1fa15	b780d424-5294-4725-807c-063d6aa64adf	g.chr18:30913142_30913143insT	ENST00000383096.3	-	10	1056_1057	c.874_875insA	c.(874-876)ggafs	p.G292fs	CCDC178_ENST00000579947.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000402325.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000300227.8_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000583930.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000403303.1_Frame_Shift_Ins_p.G292fs|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000406524.2_Frame_Shift_Ins_p.G292fs					coiled-coil domain containing 178									p.M292fs*3(2)									ATTTACCTCCATTTTTTTTTTA	0.317													9	33	---	---	---	---					
