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
IFT172	26160	broad.mit.edu	37	2	27679435	27679435	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:27679435C>G	ENST00000260570.3	-	30	3417	c.3314G>C	c.(3313-3315)aGa>aCa	p.R1105T		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1105					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATTAAGCAGTCTAACTGCAGC	0.567000													15	141					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100327208	100327208	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:100327208G>A	ENST00000294724.4	+	3	710	c.232G>A	c.(232-234)Gat>Aat	p.D78N	AGL_ENST00000361915.3_Missense_Mutation_p.D78N|AGL_ENST00000370165.3_Missense_Mutation_p.D78N|AGL_ENST00000370163.3_Missense_Mutation_p.D78N|AGL_ENST00000370161.2_Missense_Mutation_p.D62N|AGL_ENST00000361522.4_Missense_Mutation_p.D61N|AGL_ENST00000361302.3_Missense_Mutation_p.D62N	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	78					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGATGATTCTGATAAATACTG	0.323000													16	87					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108994907	108994907	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:108994907C>T	ENST00000272452.2	+	1	440	c.114C>T	c.(112-114)atC>atT	p.I38I	SULT1C4_ENST00000409309.3_Silent_p.I38I	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	38					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						GGGATAAGATCTGGAACTTCC	0.468000													59	195					0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603503	111603503	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:111603503C>T	ENST00000431670.2	+	2	990	c.579C>T	c.(577-579)atC>atT	p.I193I	PHLDB2_ENST00000478922.1_Silent_p.I193I|PHLDB2_ENST00000481953.1_Silent_p.I193I|PHLDB2_ENST00000393925.3_Silent_p.I193I|PHLDB2_ENST00000477695.1_Silent_p.I193I|PHLDB2_ENST00000393923.3_Silent_p.I220I|PHLDB2_ENST00000412622.1_Silent_p.I193I	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	193						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CGCCTCCTATCAGCAGATCGG	0.557000													7	65					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													4	101					0.00909568	0.00925957	1	1	0
SNX19	399979	broad.mit.edu	37	11	130750519	130750519	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:130750519G>A	ENST00000265909.4	-	9	3325	c.2756C>T	c.(2755-2757)cCa>cTa	p.P919L	SNX19_ENST00000534726.1_Missense_Mutation_p.P159L|SNX19_ENST00000539184.1_Missense_Mutation_p.P362L|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Missense_Mutation_p.P159L|SNX19_ENST00000426933.2_Missense_Mutation_p.P87L|SNX19_ENST00000528555.1_Missense_Mutation_p.P299L|SNX19_ENST00000530356.1_Missense_Mutation_p.P299L	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	919					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CCAATTACCTGGGAGGACTCC	0.493000													6	351					0	0	1	0	0
SNHG7	84973	broad.mit.edu	37	9	139621221	139621221	+	RNA	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:139621221C>T	ENST00000414282.1	-	0	345				SNHG7_ENST00000391185.1_RNA|SNHG7_ENST00000416970.1_RNA|SNHG7_ENST00000447221.1_RNA																							ATCAAACATTCAAACGTTCAC	0.527000											OREG0019621	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	45					0	0	1	0	0
CD300LG	146894	broad.mit.edu	37	17	41931336	41931336	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:41931336C>T	ENST00000317310.4	+	4	684	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	CD300LG_ENST00000586233.1_Missense_Mutation_p.R130C|CD300LG_ENST00000377203.4_Missense_Mutation_p.R181C|CD300LG_ENST00000293396.8_Missense_Mutation_p.R130C|CD300LG_ENST00000539718.1_Missense_Mutation_p.R215C	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215						apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGGAGCTCCCGCCCCCCCAT	0.627000													28	61					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58944982	58944982	+	Missense_Mutation	SNP	C	C	T	rs148462540	by1000genomes	TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:58944982C>T	ENST00000254166.3	-	3	2229	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	610						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTGGATTTTCGGCTAAAGAA	0.423000													37	162					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77385268	77385268	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:77385268C>G	ENST00000255194.6	-	22	2701	c.2526G>C	c.(2524-2526)ttG>ttC	p.L842F	AP3B1_ENST00000519295.1_Missense_Mutation_p.L793F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	842					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GATCAGCCATCAAACTTGGAG	0.398000									Hermansky-Pudlak syndrome				10	118					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040796	107040796	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:107040796C>T	ENST00000409886.3	-	20	3714	c.3627G>A	c.(3625-3627)ttG>ttA	p.L1209L	RGPD3_ENST00000304514.7_Silent_p.L1209L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1209					intracellular transport		binding	p.L1209F(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GATCATTTGTCAAAAATGTTT	0.408000													65	198					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127669962	127669962	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:127669962G>A	ENST00000249363.3	-	2	989	c.732C>T	c.(730-732)ctC>ctT	p.L244L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	244						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGAGCTTCTTGAGGGAGCTCA	0.572000													16	73					0	0	1	0	0
GPR160	26996	broad.mit.edu	37	3	169802552	169802552	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:169802552A>T	ENST00000355897.5	+	4	1400	c.792A>T	c.(790-792)ttA>ttT	p.L264F		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	264						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCATTGTTTTACTTAAAGTTC	0.318000													25	59					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45457470	45457470	+	RNA	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:45457470G>C	ENST00000548424.1	+	0	448																											AAAGGCATTTGAGTTTTCAGT	0.483000													4	27					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31385001	31385001	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:31385001C>T	ENST00000328111.2	+	14	1707	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	DNMT3B_ENST00000201963.3_Silent_p.F454F|DNMT3B_ENST00000443239.3_Silent_p.F400F|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000353855.2_Silent_p.F442F|DNMT3B_ENST00000344505.4_Silent_p.F442F|DNMT3B_ENST00000456297.2_Silent_p.F366F|DNMT3B_ENST00000348286.2_Silent_p.F442F	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	462	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGATCGCTTCCTTGAGCTGT	0.562000													23	120					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38213416	38213416	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr13:38213416C>G	ENST00000379705.3	-	9	2957	c.2100G>C	c.(2098-2100)ttG>ttC	p.L700F	TRPC4_ENST00000358477.2_Missense_Mutation_p.L700F|TRPC4_ENST00000379679.1_Missense_Mutation_p.L527F|TRPC4_ENST00000447043.1_Missense_Mutation_p.L700F|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.L527F|TRPC4_ENST00000379673.2_Missense_Mutation_p.L635F|TRPC4_ENST00000355779.2_Missense_Mutation_p.L700F|TRPC4_ENST00000379681.3_Missense_Mutation_p.L705F			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	700	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GATGTCTTCTCAAGTTATCAG	0.338000													33	113					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33560264	33560264	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:33560264C>T	ENST00000228567.3	-	3	833	c.537G>A	c.(535-537)ccG>ccA	p.P179P	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	179						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GCATTTGCCTCGGCAGGTGTC	0.428000													32	127					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121013751	121013751	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:121013751C>T	ENST00000325954.4	+	16	2818	c.2357C>T	c.(2356-2358)tCt>tTt	p.S786F	RNF10_ENST00000542701.1_3'UTR|RNF10_ENST00000413266.2_Missense_Mutation_p.S791F	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	786					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GATCCCCTCTCTGGTAAGGGC	0.502000													37	162					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1686771	1686771	+	Splice_Site	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:1686771C>G	ENST00000305513.7	-	9	2188		c.e9-1			NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4								zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ACAGCTCGCTCTGTCAATGCA	0.592000													6	10					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138464	32138464	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:32138464G>A	ENST00000312561.4	+	4	4989	c.4575G>A	c.(4573-4575)caG>caA	p.Q1525Q	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		ACCATTCTCAGGAGTCTAAAA	0.363000													8	49					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79294070	79294070	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:79294070C>T	ENST00000419573.3	-	17	2831	c.2557G>A	c.(2557-2559)Gat>Aat	p.D853N	RASGRF1_ENST00000394745.3_Missense_Mutation_p.D69N|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.D837N	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	855					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTTTCAGTATCACCATCATCA	0.338000													27	127					0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49473872	49473872	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:49473872C>G	ENST00000323798.3	-	14	1936	c.1740G>C	c.(1738-1740)cgG>cgC	p.R580R	GYS1_ENST00000544287.1_Silent_p.R213R|GYS1_ENST00000541188.1_Silent_p.R500R|GYS1_ENST00000263276.6_Silent_p.R516R	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	580					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TGATACGCTGCCGCCGGCTCT	0.597000											OREG0025611	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	52					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44435364	44435364	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:44435364C>A	ENST00000585916.1	-	5	669	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.D224Y	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	224	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGATAGTTATCTTCTTGAGGG	0.299000													19	108					5.35356e-11	5.91158e-11	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46563784	46563784	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:46563784C>T	ENST00000458649.2	-	7	2201	c.1783G>A	c.(1783-1785)Gag>Aag	p.E595K	AMBRA1_ENST00000298834.3_Missense_Mutation_p.E595K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E505K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E595K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E505K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	595	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GAACTAGCCTCGCCAGAGGAG	0.587000													3	41					0	0	1	0	0
MNT	4335	broad.mit.edu	37	17	2297373	2297373	+	Silent	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:2297373A>G	ENST00000174618.4	-	4	1176	c.771T>C	c.(769-771)aaT>aaC	p.N257N		NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	257	Helix-loop-helix motif.				multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GCACGCTCAGATTGGACGTCT	0.677000													28	70					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395253	94395253	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr14:94395253G>A	ENST00000267594.5	+	3	1115	c.808G>A	c.(808-810)Gtc>Atc	p.V270I	FAM181A_ENST00000557000.2_Missense_Mutation_p.V208I|FAM181A_ENST00000556222.1_Missense_Mutation_p.V208I|FAM181A_ENST00000557719.1_Missense_Mutation_p.V208I	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	270										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GGTGGGCCGCGTCAATGCCTG	0.652000													3	32					0	0	1	0	0
MFAP1	4236	broad.mit.edu	37	15	44105285	44105285	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:44105285C>A	ENST00000267812.3	-	6	1019	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	263						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTGAGTGCATCCAATGCAGCC	0.438000													13	322					1.5842e-08	1.72129e-08	1	1	0
RBM4B	83759	broad.mit.edu	37	11	66444488	66444488	+	Silent	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:66444488G>C	ENST00000525754.1	-	1	731	c.63C>G	c.(61-63)ctC>ctG	p.L21L	RBM4B_ENST00000531969.1_Silent_p.L21L|RBM4B_ENST00000531036.2_Silent_p.L21L|RBM4B_ENST00000310046.4_Silent_p.L21L|RBM4B_ENST00000524637.1_Silent_p.L21L			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	21	RRM 1.				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						ACTGCTCGAAGAGTGAGCGAA	0.502000													24	99					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340491	55340491	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:55340491G>C	ENST00000314634.3	+	1	888	c.888G>C	c.(886-888)atG>atC	p.M296I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				AAAGTGCCATGAGGAAGCTTT	0.363000													8	22					0	0	1	0	0
GNAI1	2770	broad.mit.edu	37	7	79828601	79828601	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:79828601G>A	ENST00000351004.3	+	4	737	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	GNAI1_ENST00000457358.2_Missense_Mutation_p.E70K	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	122					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TATGACTGCAGAACTTGCTGG	0.418000													21	92					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9322029	9322029	+	Silent	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:9322029G>C	ENST00000261336.2	-	16	2026	c.1998C>G	c.(1996-1998)ctC>ctG	p.L666L	PZP_ENST00000381997.2_Silent_p.L535L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ATTTTACCTTGAGGAAGCTAT	0.348000													11	57					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42808970	42808970	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr21:42808970G>A	ENST00000398600.2	+	9	1352	c.327G>A	c.(325-327)ctG>ctA	p.L109L	MX1_ENST00000398598.3_Silent_p.L109L|MX1_ENST00000288383.6_Silent_p.L86L|MX1_ENST00000455164.2_Silent_p.L109L	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	109					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)				CGCTGGTGCTGAAACTGAAGA	0.498000													11	63					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	332217	332217	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:332217C>G	ENST00000280886.6	-	34	4202	c.4115G>C	c.(4114-4116)gGa>gCa	p.G1372A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1372						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ACTCACCTCTCCAAGGTGTGA	0.483000													66	234					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42812945	42812945	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr21:42812945G>C	ENST00000398600.2	+	11	1748	c.723G>C	c.(721-723)agG>agC	p.R241S	MX1_ENST00000398598.3_Missense_Mutation_p.R241S|MX1_ENST00000288383.6_Missense_Mutation_p.R218S|MX1_ENST00000455164.2_Missense_Mutation_p.R241S	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	241					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)				AGGGAGACAGGACCATCGGTG	0.642000													13	101					0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107663347	107663347	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:107663347G>A	ENST00000525815.1	-	8	1539	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	SLC35F2_ENST00000429869.1_Silent_p.V373V|SLC35F2_ENST00000265836.7_Silent_p.V225V|SLC35F2_ENST00000525071.1_3'UTR|SLC35F2_ENST00000375682.4_Silent_p.V326V	NM_017515.4	NP_059985.2	Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	373					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CCAGCTACAAGACAGCAGAGT	0.587000													7	52					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47320913	47320913	+	Missense_Mutation	SNP	T	T	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr21:47320913T>A	ENST00000400314.1	+	7	563	c.225T>A	c.(223-225)agT>agA	p.S75R	PCBP3_ENST00000400304.1_Missense_Mutation_p.S43R|PCBP3_ENST00000400308.1_Missense_Mutation_p.S75R|PCBP3_ENST00000400309.1_Missense_Mutation_p.S75R|PCBP3_ENST00000400310.1_Missense_Mutation_p.S75R|PCBP3_ENST00000449640.1_Missense_Mutation_p.S75R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	75	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CACCTTAGAGTGGTGCAAGGA	0.542000													12	91					0	0	1	0	0
LPCAT4	254531	broad.mit.edu	37	15	34657815	34657815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:34657815G>A	ENST00000314891.6	-	2	379	c.202C>T	c.(202-204)Caa>Taa	p.Q68*	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	68					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCGGCCACTTGAAGCCAGGCA	0.577000													17	66					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129595	1129595	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:1129595G>C	ENST00000293897.4	+	1	815	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	SSTR5_ENST00000397547.2_Missense_Mutation_p.E243Q|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	243					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GCGGCGCTCGGAGCGGAAGGT	0.662000													6	35					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52403032	52403032	+	Nonsense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:52403032G>A	ENST00000361377.4	-	3	201	c.160C>T	c.(160-162)Cag>Tag	p.Q54*	MOCS2_ENST00000450852.3_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000584946.1_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000582677.1_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000510818.2_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000508922.1_Nonsense_Mutation_p.Q54*|MOCS2_ENST00000396954.3_5'UTR			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	54					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AATATTATCTGATTTCTAACA	0.418000													5	26					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83352825	83352825	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chrX:83352825C>T	ENST00000262752.2	-	19	1815	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.C603Y	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	603	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CCAGATATCACAAGCAGCATC	0.313000													5	121					0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82333670	82333670	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:82333670G>A	ENST00000376520.4	+	16	2298	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	TLE4_ENST00000376537.4_Silent_p.Q490Q|TLE4_ENST00000376534.4_Silent_p.Q95Q|TLE4_ENST00000376544.3_Silent_p.Q389Q|TLE4_ENST00000265284.6_Silent_p.Q433Q|TLE4_ENST00000376552.2_Silent_p.Q458Q			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAGATGGTCAGATGCAGCCTG	0.522000													16	60					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350718	79350718	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:79350718C>A	ENST00000419573.3	-	3	763	c.489G>T	c.(487-489)caG>caT	p.Q163H	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.Q163H	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	163					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.Q163H(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CATCCTCGATCTGCTGCCGAA	0.612000													30	118					1.45844e-13	1.63171e-13	1	1	0
WNT3A	89780	broad.mit.edu	37	1	228246937	228246937	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:228246937C>T	ENST00000284523.1	+	4	908	c.830C>T	c.(829-831)tCg>tTg	p.S277L	WNT3A_ENST00000366753.2_Missense_Mutation_p.S277L	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	277					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TACGAGGCCTCGCCCAACTTC	0.687000													10	16					0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26902337	26902337	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr22:26902337C>A	ENST00000407690.1	-	6	735	c.452G>T	c.(451-453)gGa>gTa	p.G151V	TFIP11_ENST00000405938.1_Missense_Mutation_p.G151V|TFIP11_ENST00000407431.1_Missense_Mutation_p.G151V|TFIP11_ENST00000407148.1_Missense_Mutation_p.G151V	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	151	G-patch.				biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGTCCAATTCCTTTTGTGTG	0.493000													21	96					1.10513e-12	1.22833e-12	1	1	0
WNT3A	89780	broad.mit.edu	37	1	228246923	228246923	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:228246923C>T	ENST00000284523.1	+	4	894	c.816C>T	c.(814-816)gtC>gtT	p.V272V	WNT3A_ENST00000366753.2_Silent_p.V272V	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	272					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCGACCTGGTCTACTACGAGG	0.682000													10	17					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56208071	56208071	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:56208071G>A	ENST00000508342.1	-	1	1258	c.959C>T	c.(958-960)tCa>tTa	p.S320L	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.S320L|NEDD4_ENST00000506154.1_Missense_Mutation_p.S320L			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	320					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GACAGCTGTTGAAAGAAATCC	0.418000													21	118					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28635106	28635106	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:28635106G>C	ENST00000264716.4	+	4	1635	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	FOSL2_ENST00000545753.1_Missense_Mutation_p.E219Q|FOSL2_ENST00000379619.1_Missense_Mutation_p.E250Q	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	258					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CTTCTACGGTGAGGAGCCCCT	0.647000													14	58					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62995024	62995024	+	Silent	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:62995024G>C	ENST00000561311.1	+	18	2195	c.1965G>C	c.(1963-1965)ctG>ctC	p.L655L	TLN2_ENST00000306829.6_Silent_p.L655L			Q9Y4G6	TLN2_HUMAN	talin 2	655					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGATCTTCTGAGACAGATTG	0.463000													34	130					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000236957.5_Silent_p.P45P|EEF1B2_ENST00000392221.1_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	118					0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33448722	33448722	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:33448722C>A	ENST00000265112.3	+	3	525	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	TARS_ENST00000541634.1_Intron|TARS_ENST00000502553.1_Missense_Mutation_p.L72M|TARS_ENST00000455217.2_Missense_Mutation_p.L72M|TARS_ENST00000414361.2_Missense_Mutation_p.F4L	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	72					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TGATTCCATTCTGGCAGAAAA	0.368000													19	90					5.35267e-07	5.76049e-07	1	1	0
LRP2	4036	broad.mit.edu	37	2	170012841	170012841	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:170012841A>G	ENST00000263816.3	-	65	12379	c.12094T>C	c.(12094-12096)Tgt>Cgt	p.C4032R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4032	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCAGCACAGACACACTCA	0.433000													36	136					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31683046	31683046	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:31683046C>A	ENST00000319386.3	+	11	2611	c.1618C>A	c.(1618-1620)Cta>Ata	p.L540I	CCDC129_ENST00000409210.1_Missense_Mutation_p.L596I|CCDC129_ENST00000407970.3_Missense_Mutation_p.L688I|CCDC129_ENST00000451887.2_Missense_Mutation_p.L714I			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	688										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GGGTCAGATACTACCTGGGAC	0.512000													12	49					6.40141e-05	6.67716e-05	1	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555158	44555158	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:44555158G>A	ENST00000330682.2	-	1	1291	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	352	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.L352L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCACGTCGCCGAGGGCGTCCG	0.652000													13	460					0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28635135	28635135	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:28635135G>A	ENST00000264716.4	+	4	1664	c.801G>A	c.(799-801)gtG>gtA	p.V267V	FOSL2_ENST00000545753.1_Silent_p.V228V|FOSL2_ENST00000379619.1_Silent_p.V259V	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	267					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCATCGTGGTGACCTCCACAC	0.637000													18	65					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:7578443A>C	ENST00000420246.2	-	5	619	c.487T>G	c.(487-489)Tac>Gac	p.Y163D	TP53_ENST00000455263.2_Missense_Mutation_p.Y163D|TP53_ENST00000269305.4_Missense_Mutation_p.Y163D|TP53_ENST00000413465.2_Missense_Mutation_p.Y163D|TP53_ENST00000445888.2_Missense_Mutation_p.Y163D|TP53_ENST00000359597.4_Missense_Mutation_p.Y163D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)		GACTGCTTGTAGATGGCCATG	0.622000		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)			15	65					0	0	1	0	0
NOL7	51406	broad.mit.edu	37	6	13620487	13620487	+	Missense_Mutation	SNP	G	G	A	rs146992026	by1000genomes	TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:13620487G>A	ENST00000451315.2	+	6	580	c.548G>A	c.(547-549)aGa>aAa	p.R183K	AL441883.1_ENST00000600057.1_Missense_Mutation_p.L97F|NOL7_ENST00000474485.1_3'UTR	NM_016167.3	NP_057251.2	Q9UMY1	NOL7_HUMAN	nucleolar protein 7, 27kDa	183						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			CAAGATCTGAGAGATTCAAGG	0.353000													20	88					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116930895	116930895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:116930895C>T	ENST00000356083.3	+	3	1451	c.1060C>T	c.(1060-1062)Caa>Taa	p.Q354*		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	354	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCGGCCGCTCAACCATCACA	0.587000													18	54					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675543	100675543	+	Silent	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:100675543C>A	ENST00000306151.4	+	3	910	c.846C>A	c.(844-846)ctC>ctA	p.L282L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	282	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAATGCCTCTCAGCGTGATGC	0.502000													129	227					5.40711e-61	6.17175e-61	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	79					0	0	1	0	0
SPRR3	6707	broad.mit.edu	37	1	152975541	152975541	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:152975541G>T	ENST00000331860.3	+	3	195	c.45G>T	c.(43-45)caG>caT	p.Q15H	SPRR3_ENST00000542696.1_Missense_Mutation_p.Q15H|SPRR3_ENST00000295367.4_Missense_Mutation_p.Q15H	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	15					keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCACCTCAGCTTCAACAGC	0.488000													18	77					4.35082e-09	4.74253e-09	1	1	0
METTL23	124512	broad.mit.edu	37	17	74729630	74729630	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:74729630C>G	ENST00000341249.6	+	5	767	c.435C>G	c.(433-435)ctC>ctG	p.L145L	METTL23_ENST00000588783.1_3'UTR|METTL23_ENST00000590964.1_Silent_p.L78L|METTL23_ENST00000591571.1_3'UTR|METTL23_ENST00000588822.1_Silent_p.L78L|METTL23_ENST00000588302.1_3'UTR|RP11-318A15.7_ENST00000587459.1_Intron|METTL23_ENST00000586752.1_Silent_p.L78L|METTL23_ENST00000586738.1_3'UTR|METTL23_ENST00000586200.1_Silent_p.L26L	NM_001206984.1	NP_001193913.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	145						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						AAGCTTTACTCTACAAATGGG	0.348000													142	234					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92765007	92765007	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:92765007G>A	ENST00000318238.4	-	5	1494	c.278C>T	c.(277-279)tCa>tTa	p.S93L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.S93L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.S93L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	93										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGACGGTTTTGAATTATCTAA	0.363000													27	197					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1045163	1045163	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:1045163G>C	ENST00000263094.6	+	12	1609	c.1378G>C	c.(1378-1380)Ggc>Cgc	p.G460R	ABCA7_ENST00000435683.2_Missense_Mutation_p.G322R|ABCA7_ENST00000433129.1_Missense_Mutation_p.G460R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	460					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGGCCCCGGCCACGTGCG	0.627000													24	79					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72111650	72111650	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr8:72111650C>T	ENST00000340726.3	-	18	2343	c.1704G>A	c.(1702-1704)gcG>gcA	p.A568A	EYA1_ENST00000419131.1_Silent_p.A533A|EYA1_ENST00000388742.4_Silent_p.A568A|EYA1_ENST00000388740.3_Silent_p.A535A|EYA1_ENST00000303824.7_Silent_p.A562A|EYA1_ENST00000388743.2_Silent_p.A567A|EYA1_ENST00000388741.2_Silent_p.A534A|RP11-326E22.1_ENST00000521685.1_RNA	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	568					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGAAGGGCATCGCGTGCTGCA	0.582000													5	20					0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589697	140589697	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:140589697G>C	ENST00000239450.2	+	1	1407	c.1218G>C	c.(1216-1218)gaG>gaC	p.E406D	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E69D	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		406	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGAAACAGAGAGACCGCTGG	0.502000													6	50					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23687272	23687272	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:23687272C>T	ENST00000546136.1	-	14	2136	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	SOX5_ENST00000541536.1_Missense_Mutation_p.E604K|SOX5_ENST00000396007.2_Missense_Mutation_p.E339K|SOX5_ENST00000545921.1_Missense_Mutation_p.E715K|SOX5_ENST00000381381.2_Missense_Mutation_p.E604K|SOX5_ENST00000309359.1_Missense_Mutation_p.E712K|SOX5_ENST00000451604.2_Missense_Mutation_p.E725K|SOX5_ENST00000537393.1_Missense_Mutation_p.E690K			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	725					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						GCCTGTATCTCTTCTTTGATA	0.488000													28	115					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310245	57310245	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:57310245G>A	ENST00000457912.1	+	2	184	c.184G>A	c.(184-186)Gag>Aag	p.E62K	SMTNL1_ENST00000399154.2_Missense_Mutation_p.E44K|SMTNL1_ENST00000527972.1_Missense_Mutation_p.E44K			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	44										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GGCCATCAATGAGGGGCCTCC	0.587000													4	24					0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	111903	111903	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:111903C>T	ENST00000262316.6	-	8	1243	c.1101G>A	c.(1099-1101)gaG>gaA	p.E367E	RHBDF1_ENST00000454039.2_Silent_p.E367E	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	367					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACGGCCGCTTCTCCCGGGCGA	0.697000													14	25					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124203189	124203189	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:124203189C>G	ENST00000330342.3	+	2	385	c.137C>G	c.(136-138)tCt>tGt	p.S46C		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	46					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AACGTAAGTTCTTTCCAAAGA	0.284000													23	91					0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57494928	57494928	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:57494928G>A	ENST00000351747.2	-	6	661	c.481C>T	c.(481-483)Ctt>Ttt	p.L161F	DNAH12_ENST00000311202.6_Missense_Mutation_p.L161F|DNAH12_ENST00000389536.4_Missense_Mutation_p.L161F	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	161	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						GGTTTCACAAGAACGCTCTGC	0.323000													4	87					0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129520242	129520242	+	Silent	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:129520242G>C	ENST00000305031.4	+	3	1765	c.1407G>C	c.(1405-1407)ctG>ctC	p.L469L		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	469						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GGGAGTTCCTGACAGGGAAGC	0.502000													3	38					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422886	37422886	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:37422886A>G	ENST00000374660.1	+	5	591	c.492A>G	c.(490-492)atA>atG	p.I164M	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.I164M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I164M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCAGAGATAGTTGGCATGC	0.378000													48	193					0	0	1	0	0
RNF138	51444	broad.mit.edu	37	18	29706662	29706662	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:29706662C>A	ENST00000261593.3	+	7	1026	c.568C>A	c.(568-570)Cct>Act	p.P190T	RNF138_ENST00000257190.5_Missense_Mutation_p.P96T	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	190					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						ATAGACATGTCCTATTTGTGT	0.299000													12	107					4.36969e-10	4.8095e-10	1	1	0
ZNF335	63925	broad.mit.edu	37	20	44592630	44592630	+	Splice_Site	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:44592630C>T	ENST00000322927.2	-	8	1203		c.e8-1		ZNF335_ENST00000426788.1_Splice_Site	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTTCCACACCTGCCACGGAC	0.612000													14	70					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135158732	135158732	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:135158732C>T	ENST00000372169.2	-	19	6647	c.6465G>A	c.(6463-6465)ttG>ttA	p.L2155L	SETX_ENST00000224140.5_Silent_p.L2155L|SETX_ENST00000393220.1_Silent_p.L2155L			Q7Z333	SETX_HUMAN	senataxin	2155					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CACTTGTGCTCAACGTGCAGC	0.473000													36	139					0	0	1	0	0
TUBB	203068	broad.mit.edu	37	6	30691701	30691701	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:30691701G>A	ENST00000396389.1	+	4	1401	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	TUBB_ENST00000435534.1_Intron|TUBB_ENST00000330914.3_Missense_Mutation_p.E216K|TUBB_ENST00000327892.8_Missense_Mutation_p.E288K|TUBB_ENST00000396384.1_Missense_Mutation_p.E216K			P07437	TBB5_HUMAN	tubulin, beta class I	288					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	CACAGTGCCGGAACTCACCCA	0.592000													34	125					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581409	140581409	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:140581409G>T	ENST00000354757.3	+	1	2062	c.2062G>T	c.(2062-2064)Gtc>Ttc	p.V688F	PCDHB11_ENST00000536699.1_Missense_Mutation_p.V323F	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		688					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCTCACCGTCTACTTGGT	0.692000													6	203					0.248553	0.250028	1	1	0
CSTL1	128817	broad.mit.edu	37	20	23424636	23424636	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:23424636C>A	ENST00000347397.1	+	3	531	c.285C>A	c.(283-285)gaC>gaA	p.D95E	CSTL1_ENST00000246020.2_Missense_Mutation_p.D95E	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	95						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					AGAGGAATGACACGAGCAATT	0.468000													21	101					1.2476e-16	1.4051e-16	1	1	0
GAPDHS	26330	broad.mit.edu	37	19	36029287	36029287	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:36029287C>A	ENST00000222286.4	+	3	440	c.324C>A	c.(322-324)ttC>ttA	p.F108L		NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	108					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	ATGATCCATTCATTGACCCGG	0.582000													8	45					1.58986e-06	1.68426e-06	1	1	0
CORO2A	7464	broad.mit.edu	37	9	100895494	100895494	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:100895494C>T	ENST00000343933.5	-	5	731	c.474G>A	c.(472-474)atG>atA	p.M158I	CORO2A_ENST00000375077.4_Missense_Mutation_p.M158I	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	158					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GGTTCCAGATCATCACCTGCA	0.532000													13	68					0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49519073	49519073	+	Splice_Site	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:49519073G>A	ENST00000413176.2	+	15	2379		c.e15-1		RUVBL2_ENST00000595090.1_Splice_Site|RUVBL2_ENST00000601968.1_Splice_Site			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCTCCCCACAGAAGGCGAGAC	0.582000													14	66					0	0	1	0	0
CPNE8	144402	broad.mit.edu	37	12	39124087	39124087	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:39124087C>G	ENST00000331366.5	-	11	892	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	CPNE8_ENST00000360449.3_Missense_Mutation_p.E254Q	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	266										NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CCTCTTACCTCATATACGTTG	0.308000													38	100					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38237709	38237709	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr13:38237709C>T	ENST00000379705.3	-	6	2389	c.1532G>A	c.(1531-1533)aGa>aAa	p.R511K	TRPC4_ENST00000358477.2_Missense_Mutation_p.R511K|TRPC4_ENST00000379679.1_Missense_Mutation_p.R338K|TRPC4_ENST00000447043.1_Missense_Mutation_p.R511K|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000338947.5_Missense_Mutation_p.R338K|TRPC4_ENST00000379673.2_Missense_Mutation_p.R511K|TRPC4_ENST00000355779.2_Missense_Mutation_p.R511K|TRPC4_ENST00000379681.3_Missense_Mutation_p.R511K			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	511					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CAGGAGCATTCTTCCCAGAGA	0.393000													19	68					0	0	1	0	0
FCHO2	115548	broad.mit.edu	37	5	72311486	72311486	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:72311486C>T	ENST00000430046.2	+	7	750	c.634C>T	c.(634-636)Cac>Tac	p.H212Y	FCHO2_ENST00000341845.6_Missense_Mutation_p.H212Y|FCHO2_ENST00000287761.6_Missense_Mutation_p.H212Y|FCHO2_ENST00000512348.1_Intron	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	212										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCATCTCATTCACATAAAGGA	0.284000													5	36					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221912616	221912616	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:221912616C>G	ENST00000366899.3	-	2	709	c.471G>C	c.(469-471)aaG>aaC	p.K157N	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	157					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TGGTCATCTTCTTTGCCAAGT	0.532000													19	88					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131324548	131324548	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:131324548G>A	ENST00000379264.2	-	6	710	c.602C>T	c.(601-603)cCg>cTg	p.P201L	ACSL6_ENST00000543479.1_Missense_Mutation_p.P176L|ACSL6_ENST00000379246.1_Missense_Mutation_p.P187L|ACSL6_ENST00000431707.1_Missense_Mutation_p.P141L|ACSL6_ENST00000357096.1_Missense_Mutation_p.P141L|ACSL6_ENST00000379244.1_Missense_Mutation_p.P176L|ACSL6_ENST00000379255.1_Missense_Mutation_p.P141L|ACSL6_ENST00000379240.1_Missense_Mutation_p.P176L|ACSL6_ENST00000379272.2_Missense_Mutation_p.P176L|ACSL6_ENST00000379249.3_Missense_Mutation_p.P176L|ACSL6_ENST00000296869.4_Missense_Mutation_p.P201L|ACSL6_ENST00000544770.1_Missense_Mutation_p.P85L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	176					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCATAGAGCGGGACCACCAC	0.597000													45	231					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890694	70890694	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:70890694C>G	ENST00000264436.3	-	16	2488	c.2044G>C	c.(2044-2046)Gac>Cac	p.D682H	ADD2_ENST00000355733.3_3'UTR|ADD2_ENST00000407644.2_Missense_Mutation_p.D682H	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	682					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGGTTTTGTCCTTAGAGGTA	0.562000													67	235					0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6955419	6955419	+	Silent	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chrY:6955419A>G	ENST00000383032.1	+	17	2039	c.1392A>G	c.(1390-1392)ggA>ggG	p.G464G	TBL1Y_ENST00000355162.2_Silent_p.G464G|TBL1Y_ENST00000346432.3_Silent_p.G464G	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	464					transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						GCCCCGATGGAAAGTACTTGG	0.473000													5	158					0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49814595	49814595	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:49814595C>G	ENST00000454748.3	-	2	211	c.10G>C	c.(10-12)Gag>Cag	p.E4Q	SLC6A16_ENST00000335875.4_Missense_Mutation_p.E4Q			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	4						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGCTGGGCCTCTGTCTTCATC	0.527000													32	85					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97984037	97984037	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:97984037C>T	ENST00000383696.2	+	1	950	c.909C>T	c.(907-909)ccC>ccT	p.P303P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TATTAAATCCCATGATCTACA	0.373000													15	53					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106647213	106647213	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:106647213C>T	ENST00000526355.1	-	6	2256	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.M617I|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.M596I	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	596	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AAAGTTCCATCATCTTCAAGG	0.483000													9	31					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982158	201982158	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:201982158C>G	ENST00000359651.3	+	5	3874	c.682C>G	c.(682-684)Ccc>Gcc	p.P228A	ELF3_ENST00000367283.3_Missense_Mutation_p.P228A|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.P228A			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	228					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAAGCTCTTCCCCAGCGGTGA	0.637000													9	55					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4721836	4721836	+	Missense_Mutation	SNP	G	G	A	rs11554758		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:4721836G>A	ENST00000540757.2	+	12	1433	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	DYRK4_ENST00000543431.1_Missense_Mutation_p.E425K|DYRK4_ENST00000010132.5_Missense_Mutation_p.E425K|DYRK4_ENST00000545342.1_Missense_Mutation_p.E62K	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	425						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TTTCCCCTCTGAGACAAGGAA	0.512000													31	146					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499505	141499505	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:141499505C>A	ENST00000264952.2	+	2	1039	c.902C>A	c.(901-903)gCc>gAc	p.A301D		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	301	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCCAGATAGCCTGTGGGATG	0.552000													5	60					5.9392e-07	6.37148e-07	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													3	66					0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44058142	44058142	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:44058142C>T	ENST00000359947.4	+	11	2023	c.1683C>T	c.(1681-1683)ttC>ttT	p.F561F	PTPRF_ENST00000422171.2_Silent_p.F20F|PTPRF_ENST00000438120.1_Silent_p.F561F|PTPRF_ENST00000372413.3_Silent_p.F561F|PTPRF_ENST00000372414.3_Silent_p.F561F	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGTGACCTTCGACCCAACCT	0.577000													52	170					0	0	1	0	0
BANF2	140836	broad.mit.edu	37	20	17705763	17705763	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:17705763C>T	ENST00000246090.5	+	3	355	c.93C>T	c.(91-93)ctC>ctT	p.L31L	BANF2_ENST00000377805.3_Silent_p.L31L|BANF2_ENST00000545418.2_Silent_p.L38L	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	31						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GCCATGAGCTCGCGATCAATT	0.493000													27	124					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502308	140502308	+	Missense_Mutation	SNP	A	A	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:140502308A>T	ENST00000194152.1	+	1	728	c.728A>T	c.(727-729)cAc>cTc	p.H243L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		243					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			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)			GAGTTTGTGCACACTCCATAT	0.517000													5	155					0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10572350	10572350	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:10572350C>T	ENST00000380702.2	+	13	1548	c.1548C>T	c.(1546-1548)atC>atT	p.I516I	PDE4A_ENST00000352831.6_Silent_p.I538I|PDE4A_ENST00000440014.2_Silent_p.I477I|PDE4A_ENST00000592685.1_Silent_p.I516I|PDE4A_ENST00000344979.3_Silent_p.I299I|PDE4A_ENST00000293683.5_Silent_p.I512I			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	538	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGATGGTCATCGACATGGTGG	0.632000													25	71					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17437000	17437000	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:17437000C>T	ENST00000262545.2	+	10	1424	c.1109C>T	c.(1108-1110)aCa>aTa	p.T370I	PCSK2_ENST00000377899.1_Missense_Mutation_p.T351I|PCSK2_ENST00000536609.1_Missense_Mutation_p.T335I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	370	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGGCAACCACAGATTTGTAC	0.493000													7	356					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100899883	100899883	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:100899883C>T	ENST00000343933.5	-	3	546	c.289G>A	c.(289-291)Gag>Aag	p.E97K	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97K	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGCGATCTCAAAATCATCA	0.542000													32	121					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31864717	31864717	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:31864717C>G	ENST00000395728.3	-	1	262	c.263G>C	c.(262-264)aGa>aCa	p.R88T	EHMT2_ENST00000375530.4_Missense_Mutation_p.R31T|EHMT2_ENST00000375537.4_Missense_Mutation_p.R31T|EHMT2_ENST00000375528.4_Missense_Mutation_p.R88T			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	31					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGTGGCTCCTCTGGTTTCCTT	0.602000													40	171					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94540203	94540203	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:94540203C>T	ENST00000289495.5	+	1	994	c.778C>T	c.(778-780)Cct>Tct	p.P260S	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.P260S|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.P260S|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.P260S|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.P260S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.P260S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	260						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCCTGGCCTCCTTCAAACAA	0.428000										HNSCC(28;0.073)			12	69					0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765276	19765276	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:19765276G>C	ENST00000405844.1	-	3	1015	c.320C>G	c.(319-321)tCc>tGc	p.S107C	TMEM196_ENST00000405764.3_Missense_Mutation_p.S107C|TMEM196_ENST00000493519.1_Missense_Mutation_p.S39C|TMEM196_ENST00000422233.1_Missense_Mutation_p.S39C|TMEM196_ENST00000433641.1_Missense_Mutation_p.S39C			Q5HYL7	TM196_HUMAN	transmembrane protein 196	113						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						GAGAGACATGGAGGCAAGGTG	0.527000													20	114					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66058398	66058398	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:66058398C>T	ENST00000349533.6	+	6	738	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.H185Y|LEPR_ENST00000371058.1_Missense_Mutation_p.H185Y|LEPR_ENST00000371059.3_Missense_Mutation_p.H185Y|LEPR_ENST00000371060.3_Missense_Mutation_p.H185Y	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	185					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCAGATGGTTCACTGCAATTG	0.388000													23	97					0	0	1	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378593	114378593	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:114378593C>G	ENST00000312719.5	-	5	2057	c.869G>C	c.(868-870)aGa>aCa	p.R290T	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R290T|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	290					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GTAAAACCCTCTGGTAGCATT	0.463000													21	59					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42864988	42864988	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:42864988G>A	ENST00000334370.4	+	31	5984	c.5349G>A	c.(5347-5349)ggG>ggA	p.G1783G	MEGF8_ENST00000251268.6_Silent_p.G1850G	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1850						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGCAGTCGGGAGCCGCCTGT	0.652000													6	8					0	0	1	0	0
SULT1A1	6817	broad.mit.edu	37	16	28619801	28619801	+	Nonsense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:28619801G>C	ENST00000395609.1	-	5	1030	c.272C>G	c.(271-273)tCa>tGa	p.S91*	SULT1A1_ENST00000395607.1_Nonsense_Mutation_p.S91*|SULT1A1_ENST00000569554.1_Nonsense_Mutation_p.S91*|SULT1A1_ENST00000314752.7_Nonsense_Mutation_p.S91*|SULT1A1_ENST00000350842.4_Intron			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	91					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TCACACACCTGAGGGAATCCC	0.592000													13	61					0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150846811	150846811	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:150846811C>G	ENST00000243389.3	+	6	694	c.471C>G	c.(469-471)gtC>gtG	p.V157V	SLC36A1_ENST00000520701.1_Silent_p.V157V|SLC36A1_ENST00000429484.2_Silent_p.V157V|SLC36A1_ENST00000521925.1_Silent_p.V157V	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	157					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	TCTGCTGTGTCTATTTTGTGT	0.403000													19	93					0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157106140	157106140	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:157106140T>G	ENST00000368192.4	-	2	69	c.5A>C	c.(4-6)aAa>aCa	p.K2T	ETV3_ENST00000326786.4_Missense_Mutation_p.K2T|ETV3_ENST00000460850.1_5'UTR	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	2							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				ACAGCCGGCTTTCATTTTCAC	0.468000													62	218					0	0	1	0	0
SEP15	9403	broad.mit.edu	37	1	87329192	87329192	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:87329192C>G	ENST00000331835.5	-	5	716	c.454G>C	c.(454-456)Gaa>Caa	p.E152Q	RP4-604K5.1_ENST00000370554.1_3'UTR|RP4-604K5.1_ENST00000469566.1_5'UTR|RP4-604K5.1_ENST00000401030.3_3'UTR	NM_004261.3	NP_004252.2																					AGGAATTCTTCTACACTGTCT	0.373000													4	33					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6157423	6157423	+	Silent	SNP	T	T	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:6157423T>G	ENST00000446108.1	+	12	1754	c.1110T>G	c.(1108-1110)gtT>gtG	p.V370V	RBM17_ENST00000379888.4_Silent_p.V370V|RBM17_ENST00000476706.1_3'UTR	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	370	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CAGCGGTTGTTGACTTGAATG	0.348000													10	232					0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128414567	128414567	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:128414567C>G	ENST00000249389.2	-	3	671	c.672G>C	c.(670-672)ctG>ctC	p.L224L		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	224					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCAGGGCCCTCAGCAGCTGAG	0.522000													31	169					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31427868	31427868	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:31427868G>A	ENST00000389202.2	+	20	2449	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	800					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGCTCAACGTGATTGTGACTG	0.622000													35	140					0	0	1	0	0
ACTC1	70	broad.mit.edu	37	15	35085666	35085666	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:35085666G>A	ENST00000290378.4	-	3	889	c.234C>T	c.(232-234)atC>atT	p.I78I	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	78					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CCCAGTTGGTGATGATACCAT	0.567000													22	106					0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142397008	142397008	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:142397008G>C	ENST00000258042.1	-	3	1090	c.950C>G	c.(949-951)tCt>tGt	p.S317C	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	317					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		GTTGACACAAGAATTGCCAAA	0.443000													19	60					0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3328631	3328631	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:3328631G>C	ENST00000378398.3	+	10	1955	c.1873G>C	c.(1873-1875)Gac>Cac	p.D625H	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000441472.2_Missense_Mutation_p.D624H|PRDM16_ENST00000442529.2_Missense_Mutation_p.D624H|PRDM16_ENST00000511072.1_Missense_Mutation_p.D625H|PRDM16_ENST00000270722.5_Missense_Mutation_p.D624H|PRDM16_ENST00000378391.2_Missense_Mutation_p.D624H|PRDM16_ENST00000514189.1_Missense_Mutation_p.D625H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	624					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	p.D624Y(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GACGGGCTCGGACCTGGACAG	0.677000			T	EVI1	"""MDS, AML"""								40	116					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32933216	32933216	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:32933216G>A	ENST00000383763.4	+	4	2583	c.2520G>A	c.(2518-2520)caG>caA	p.Q840Q		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	840					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTTTGGGCAGATGGACCGCC	0.537000													71	217					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512150	61512150	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:61512150C>T	ENST00000266070.4	-	16	5483	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1720K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1720					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTCCCCCTCTGTTTCACCT	0.647000													31	136					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101845511	101845511	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:101845511C>T	ENST00000348070.1	-	23	2858	c.2859G>A	c.(2857-2859)cgG>cgA	p.R953R	PCSK6_ENST00000358417.3_Silent_p.R940R|PCSK6_ENST00000561177.1_5'UTR|RP11-299G20.2_ENST00000558838.1_RNA	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	954	PLAC.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAAGAGCTTCCGTTCGCACA	0.602000													7	40					0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61687657	61687657	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:61687657C>G	ENST00000577390.1	-	12	3209	c.2255G>C	c.(2254-2256)cGa>cCa	p.R752P	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	752					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CACTGACCCTCGGCCTTCATA	0.502000													8	55					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28511033	28511033	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:28511033G>A	ENST00000261609.7	-	13	1794	c.1686C>T	c.(1684-1686)taC>taT	p.Y562Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	562					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGGCCGCACTGTAAGTGCTCC	0.632000													12	69					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124618657	124618657	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:124618657C>T	ENST00000403470.1	-	5	644	c.589G>A	c.(589-591)Gag>Aag	p.E197K	VSIG2_ENST00000326621.5_Missense_Mutation_p.E197K			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	197	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CCAGACACCTCATCTAGAGGA	0.527000													11	72					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490867	128490867	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:128490867G>A	ENST00000325888.8	+	33	5670	c.5409G>A	c.(5407-5409)cgG>cgA	p.R1803R	FLNC_ENST00000346177.6_Silent_p.R1770R|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1803					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGAGGTGCGGATGCCCTCGG	0.622000													38	150					0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103596137	103596137	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr14:103596137C>T	ENST00000560869.1	+	4	1560	c.921C>T	c.(919-921)ctC>ctT	p.L307L	TNFAIP2_ENST00000451723.2_Intron|TNFAIP2_ENST00000333007.1_Silent_p.L307L			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	307					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			TCGGGAGCCTCCTGCCCCCCA	0.642000													24	55					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123911011	123911011	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:123911011C>G	ENST00000373855.1	+	24	3781	c.3521C>G	c.(3520-3522)tCa>tGa	p.S1174*	CNTRL_ENST00000373850.1_Nonsense_Mutation_p.S622*|CNTRL_ENST00000238341.5_Nonsense_Mutation_p.S1174*|CNTRL_ENST00000373847.1_Nonsense_Mutation_p.S622*			Q7Z7A1	CNTRL_HUMAN	centriolin	1174					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						TACTCAGCCTCAACTCCTGTT	0.502000													18	90					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111340150	111340150	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr13:111340150C>G	ENST00000257347.4	-	5	552	c.489G>C	c.(487-489)ctG>ctC	p.L163L	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	163					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CGGTTACCCTCAGGTACACCG	0.483000													37	171					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112143554	112143554	+	Missense_Mutation	SNP	G	G	A	rs144623113		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:112143554G>A	ENST00000455480.2	+	4	526	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	ACAD10_ENST00000549590.1_Missense_Mutation_p.V117M|ACAD10_ENST00000313698.4_Missense_Mutation_p.V117M|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	117							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AAAGACCTCCGTGCCTGTGGA	0.453000													5	96					0	0	1	0	0
CDH3	1001	broad.mit.edu	37	16	68719187	68719187	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:68719187G>A	ENST00000264012.4	+	11	2048	c.1504G>A	c.(1504-1506)Gac>Aac	p.D502N	CDH3_ENST00000581171.1_Missense_Mutation_p.D447N|CDH3_ENST00000429102.2_Missense_Mutation_p.D502N	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	502	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGGCACCCTCGACCGTGAGGA	0.577000													21	95					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73565679	73565679	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:73565679C>G	ENST00000224721.6	+	55	8009	c.8004C>G	c.(8002-8004)ttC>ttG	p.F2668L	CDH23_ENST00000398788.3_Missense_Mutation_p.F423L|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2663	Cadherin 25.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTGGGAGTTCTTCATCATCG	0.652000													8	23					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53497988	53497988	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:53497988G>T	ENST00000301466.3	+	2	196	c.136G>T	c.(136-138)Gag>Tag	p.E46*		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	46					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						CCGACACATGGAGGTGAGGGA	0.498000													24	107					1.75199e-13	1.95369e-13	1	1	0
MYO1F	4542	broad.mit.edu	37	19	8595209	8595209	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:8595209G>T	ENST00000338257.8	-	21	2466	c.2199C>A	c.(2197-2199)aaC>aaA	p.N733K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	733						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GATTGATGCTGTTGCGCCTCC	0.627000													92	356					6.28223e-41	7.14656e-41	1	1	0
RASSF8	11228	broad.mit.edu	37	12	26218195	26218195	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:26218195G>C	ENST00000405154.2	+	3	1067	c.868G>C	c.(868-870)Gag>Cag	p.E290Q	RASSF8_ENST00000541490.1_Missense_Mutation_p.E290Q|RASSF8_ENST00000542865.1_Missense_Mutation_p.E290Q|RASSF8_ENST00000282884.9_Missense_Mutation_p.E290Q|RASSF8_ENST00000381352.3_Missense_Mutation_p.E290Q	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	290	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					CAATGAGGAAGAGGTTAAAGG	0.443000													39	126					0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24201067	24201067	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr8:24201067C>T	ENST00000265769.4	+	18	2070	c.1960C>T	c.(1960-1962)Ccc>Tcc	p.P654S	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.P401S|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	654	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGATCCCTCCCGACTGCGA	0.478000													22	67					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171761	207171761	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:207171761C>G	ENST00000374423.3	+	5	2895	c.2509C>G	c.(2509-2511)Ctt>Gtt	p.L837V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	837							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGATATTCCTCTTCATTCAGG	0.358000													10	41					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30415660	30415660	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr22:30415660G>C	ENST00000333027.3	+	17	2340	c.2012G>C	c.(2011-2013)aGa>aCa	p.R671T	MTMR3_ENST00000406629.1_Missense_Mutation_p.R671T|MTMR3_ENST00000323630.5_Missense_Mutation_p.R535T|MTMR3_ENST00000401950.2_Missense_Mutation_p.R671T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.R671T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	671					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAGCCCACCAGAGTGCCGGGG	0.622000													4	139					0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	178978	178978	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:178978G>A	ENST00000261601.6	+	4	332	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	USP14_ENST00000400266.3_Missense_Mutation_p.E70K|USP14_ENST00000383589.2_Intron|USP14_ENST00000582707.1_Intron	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	81					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTCCAGAAGAACCCTCAGC	0.363000													12	65					0	0	1	0	0
OR52K1	390036	broad.mit.edu	37	11	4510866	4510866	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:4510866C>G	ENST00000307632.3	+	1	758	c.736C>G	c.(736-738)Cac>Gac	p.H246D		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGTGTGTCTCACATAGGTGC	0.537000													40	191					0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42968465	42968465	+	Missense_Mutation	SNP	C	C	T	rs144992498	byFrequency	TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr22:42968465C>T	ENST00000327678.5	+	11	857	c.755C>T	c.(754-756)tCa>tTa	p.S252L	RRP7B_ENST00000357802.2_RNA|SERHL2_ENST00000407614.4_Missense_Mutation_p.S72L|SERHL2_ENST00000335879.5_Missense_Mutation_p.S188L|SERHL2_ENST00000340239.4_3'UTR	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	252						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						TATTTTGATTCAAGACAGAAT	0.537000													33	96					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170667	72170667	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:72170667C>T	ENST00000537465.1	-	8	1128	c.970G>A	c.(970-972)Gag>Aag	p.E324K	PMFBP1_ENST00000355636.6_Missense_Mutation_p.E179K|PMFBP1_ENST00000237353.10_Missense_Mutation_p.E324K			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	324										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTGGTACTCCTCCACATGC	0.542000													7	44					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240070879	240070879	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:240070879C>G	ENST00000255380.4	+	5	907	c.128C>G	c.(127-129)tCt>tGt	p.S43C		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	43					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.S43Y(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACAATGTTTCTCGAGCAGCT	0.562000													36	123					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96993668	96993668	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:96993668G>C	ENST00000361124.4	+	1	1734	c.1323G>C	c.(1321-1323)caG>caC	p.Q441H	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.Q425H|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.Q425H|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.Q433H	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	433						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCAGCATCAGAGCTTACCCC	0.572000													38	122					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921930	78921930	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:78921930G>A	ENST00000261751.3	-	5	828	c.717C>T	c.(715-717)ctC>ctT	p.L239L	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	239					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						AGGGGATGATGAGGTTGATGG	0.562000													33	178					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101115203	101115203	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:101115203G>A	ENST00000314742.8	-	4	842	c.620C>T	c.(619-621)tCa>tTa	p.S207L	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.S207L|LINS_ENST00000560133.1_Missense_Mutation_p.S88L	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	207										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGTTTTCTGTGAACATGAATC	0.343000													13	99					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994330	53994330	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:53994330C>G	ENST00000396403.4	+	4	972	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GACTTTCAGTCAGACGTATTC	0.423000													26	110					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56629424	56629424	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:56629424C>T	ENST00000266980.4	+	6	1178	c.885C>T	c.(883-885)ctC>ctT	p.L295L	SLC39A5_ENST00000454355.2_Silent_p.L295L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	295					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCGGAGGCCTCTTCCTGCTCT	0.612000													66	315					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830240	13830240	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:13830240C>G	ENST00000284951.5	-	20	2032	c.1958G>C	c.(1957-1959)aGa>aCa	p.R653T	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.R540T			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	653						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCAGTTCCATCTCGTTGTGAA	0.483000													4	126					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222433460	222433460	+	Missense_Mutation	SNP	A	A	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:222433460A>C	ENST00000281821.2	-	2	178	c.137T>G	c.(136-138)aTa>aGa	p.I46R	EPHA4_ENST00000409854.1_Missense_Mutation_p.I46R|EPHA4_ENST00000392071.4_Intron|EPHA4_ENST00000409938.1_Missense_Mutation_p.I46R	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	46						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGGGCTTGCTATCCACCCAAG	0.408000													9	21					0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17434398	17434398	+	Silent	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:17434398G>C	ENST00000159087.4	-	18	3785	c.3627C>G	c.(3625-3627)ctC>ctG	p.L1209L		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1209	Pro-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ctggggtctcgaggggatccg	0.731000													5	17					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42560902	42560902	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:42560902G>T	ENST00000262895.3	-	7	814	c.815C>A	c.(814-816)aCg>aAg	p.T272K	GRIK5_ENST00000593562.1_Missense_Mutation_p.T272K|GRIK5_ENST00000301218.4_Missense_Mutation_p.T272K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	272						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGGGTGGGACGTGTTGAACAT	0.592000													30	123					1.56442e-22	1.76779e-22	1	1	0
PRSS54	221191	broad.mit.edu	37	16	58314605	58314605	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:58314605C>T	ENST00000219301.4	-	7	1105	c.711G>A	c.(709-711)ctG>ctA	p.L237L	CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000567164.1_Silent_p.L237L|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Silent_p.L138L	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	237	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGACTCCTCTCAGAACCCACA	0.507000													20	58					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72349089	72349089	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:72349089G>A	ENST00000389916.4	+	15	2248	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	704					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCTCAGCACAGAGAGGTGAGA	0.602000													13	37					0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52613629	52613629	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:52613629C>T	ENST00000399231.3	-	37	5046	c.4803G>A	c.(4801-4803)gtG>gtA	p.V1601V	MYO5A_ENST00000358212.6_Silent_p.V1626V|MYO5A_ENST00000356338.6_Silent_p.V1574V|MYO5A_ENST00000399233.2_Silent_p.V1598V|MYO5A_ENST00000553916.1_Silent_p.V1599V	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1601	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGTCACTCAGCACCTGCCGAT	0.507000													43	160					0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67862267	67862267	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:67862267G>A	ENST00000562787.1	-	16	2137	c.1589C>T	c.(1588-1590)tCa>tTa	p.S530L	CENPT_ENST00000440851.2_Missense_Mutation_p.S530L|CENPT_ENST00000564817.1_Missense_Mutation_p.S475L|CENPT_ENST00000219172.3_Missense_Mutation_p.S530L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	530					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CACGTGCAGTGAGACTTGGTC	0.617000													13	88					0	0	1	0	0
ZNF30	90075	broad.mit.edu	37	19	35422794	35422794	+	Silent	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:35422794G>T	ENST00000439785.1	+	3	501	c.57G>T	c.(55-57)gtG>gtT	p.V19V	ZNF30_ENST00000601957.1_Silent_p.V19V|ZNF30_ENST00000601540.1_3'UTR|ZNF30_ENST00000601142.1_Silent_p.V19V|ZNF30_ENST00000426813.2_5'UTR|ZNF30_ENST00000303586.7_Silent_p.V19V	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TTGAGGATGTGGCCATAGCCT	0.458000													13	28					0.000151284	0.000157317	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125622316	125622316	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:125622316G>T	ENST00000373670.1	-	10	2329	c.1729C>A	c.(1729-1731)Caa>Aaa	p.Q577K	RC3H2_ENST00000357244.2_Missense_Mutation_p.Q577K|RC3H2_ENST00000423239.2_Missense_Mutation_p.Q577K			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	577	Pro-rich.					cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGATTTTTGAGGCACAGAA	0.433000													64	310					1.74474e-33	1.97815e-33	1	1	0
KDM5D	8284	broad.mit.edu	37	Y	21893666	21893666	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chrY:21893666C>T	ENST00000541639.1	-	11	1650	c.1363G>A	c.(1363-1365)Gag>Aag	p.E455K	KDM5D_ENST00000317961.4_Missense_Mutation_p.E455K|KDM5D_ENST00000382806.2_Missense_Mutation_p.E398K	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	455					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	ACCTTCTCCTCAGGAGATAAG	0.388000													28	45					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600065	3600065	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:3600065C>T	ENST00000375190.4	-	2	961	c.568G>A	c.(568-570)Gag>Aag	p.E190K	TBXA2R_ENST00000411851.3_Missense_Mutation_p.E190K|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000587717.1_5'UTR	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	190					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	TCCCCGGACTCGGCGCCCAGC	0.716000													6	32					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56493520	56493520	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:56493520G>A	ENST00000267101.3	+	24	3368	c.2928G>A	c.(2926-2928)ctG>ctA	p.L976L	ERBB3_ENST00000415288.2_Silent_p.L917L|ERBB3_ENST00000450146.2_Silent_p.L333L|ERBB3_ENST00000553131.1_Silent_p.L217L|ERBB3_ENST00000549832.1_Silent_p.L96L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	976					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CACGGTATCTGGTCATAAAGG	0.463000													27	74					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156618245	156618245	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:156618245G>C	ENST00000296518.7	+	3	435	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E76Q|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E76Q			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	76					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CACTTTGGCAGAGAGTATTTG	0.393000													31	84					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16901153	16901153	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:16901153C>G	ENST00000430580.2	-	21	3114	c.2227G>C	c.(2227-2229)Gag>Cag	p.E743Q	NBPF1_ENST00000287968.8_Missense_Mutation_p.E108Q|NBPF1_ENST00000432949.1_Missense_Mutation_p.E201Q	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	743	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGAGTCCTCAGGGACTTCC	0.493000													30	473					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351330	41351330	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:41351330C>T	ENST00000301141.5	-	7	1050	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	344					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GCCCGGTCCTCAAACTTGGGC	0.547000													30	143					0	0	1	0	0
CEACAM1	634	broad.mit.edu	37	19	43031264	43031264	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:43031264C>T	ENST00000161559.6	-	2	487	c.353G>A	c.(352-354)gGa>gAa	p.G118E	CEACAM1_ENST00000352591.5_Missense_Mutation_p.G118E|CEACAM1_ENST00000403461.1_Missense_Mutation_p.G118E|CEACAM1_ENST00000599389.1_Missense_Mutation_p.G118E|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.G118E|CEACAM1_ENST00000308072.4_Missense_Mutation_p.G78E|CEACAM1_ENST00000351134.3_Missense_Mutation_p.G118E|CEACAM1_ENST00000358394.3_Missense_Mutation_p.G118E	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	118	Ig-like V-type.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGTGTAGAATCCTGTGTCATT	0.493000													92	412					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55183810	55183810	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:55183810G>A	ENST00000337714.3	+	2	1218	c.985G>A	c.(985-987)Gag>Aag	p.E329K	AKAP1_ENST00000572557.1_Missense_Mutation_p.E329K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E329K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E329K|AKAP1_ENST00000314126.3_Missense_Mutation_p.E329K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	329					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TAGAAATGAGGAGAGCTTGGA	0.488000													50	85					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103489	170103489	+	Silent	SNP	G	G	A	rs142290901		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:170103489G>A	ENST00000263816.3	-	21	3201	c.2916C>T	c.(2914-2916)aaC>aaT	p.N972N	LRP2_ENST00000443831.1_Silent_p.N835N	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	972	EGF-like 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATTACAGGCGTTAGAACCTG	0.498000													11	51					0	0	1	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36234745	36234745	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:36234745G>T	ENST00000292879.5	-	5	421	c.368C>A	c.(367-369)tCc>tAc	p.S123Y	AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000412391.2_Silent_p.L181L|U2AF1L4_ENST00000378975.3_Silent_p.L142L	NM_144987.2	NP_659424.2	Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	0	RRM.				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGCCTCTGGAGGTTCTGGG	0.567000													6	22					0.00198382	0.00204412	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109765590	109765590	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:109765590G>C	ENST00000277225.5	+	11	7361	c.7072G>C	c.(7072-7074)Gag>Cag	p.E2358Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.E2418Q|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.E1264Q|ZNF462_ENST00000542028.1_Missense_Mutation_p.E315Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2358					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCGTAACTTTGAGCTGGTTGG	0.448000													24	95					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70964454	70964454	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr8:70964454G>C	ENST00000276594.2	-	8	1775	c.1574C>G	c.(1573-1575)tCt>tGt	p.S525C		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GGATGCAAAAGATTTACCACA	0.517000													40	157					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155253832	155253832	+	Silent	SNP	T	T	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:155253832T>A	ENST00000357232.3	-	9	2030	c.2031A>T	c.(2029-2031)acA>acT	p.T677T	DCHS2_ENST00000339452.1_Silent_p.T1176T	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	677	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAACAATGACTGTAGTGCTCA	0.448000													50	110					0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	283612	283612	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:283612C>G	ENST00000397962.3	+	6	1032	c.604C>G	c.(604-606)Caa>Gaa	p.Q202E	ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q202E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q202E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q202E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q162E|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q162E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q108E|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000402736.1_Intron|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q162E|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q45E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q185E|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q148E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q108E			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	162					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCCCACCATTCAAGAGGTAAA	0.393000													19	27					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396599	197396599	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:197396599G>C	ENST00000367397.1	+	3	1145	c.287G>C	c.(286-288)aGa>aCa	p.R96T	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.R196T|CRB1_ENST00000367399.2_Missense_Mutation_p.R603T|CRB1_ENST00000535699.1_Missense_Mutation_p.R646T|CRB1_ENST00000367400.3_Missense_Mutation_p.R715T			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	715	EGF-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GTGGCAGGCAGATTTGGCCAG	0.428000													12	66					0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21348942	21348942	+	Missense_Mutation	SNP	G	G	A	rs5761750		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr22:21348942G>A	ENST00000215739.8	+	15	2070	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E552K	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	571					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.E571K(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCAGTACATCGAGGCCTCCGT	0.617000													18	53					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4856130	4856130	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:4856130G>T	ENST00000354582.6	+	57	7890	c.7540G>T	c.(7540-7542)Gaa>Taa	p.E2514*	ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.E2466*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.E2514*|ITPR1_ENST00000357086.4_Nonsense_Mutation_p.E2481*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.E2514*|ITPR1_ENST00000544951.1_Nonsense_Mutation_p.E492*|AC018816.3_ENST00000489771.1_Intron|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.E2481*|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000441894.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2529	Interaction with ERP44 (By similarity).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAAGAGACGGAACAGGATAA	0.517000													22	79					7.38237e-10	8.0991e-10	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118550738	118550738	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:118550738C>G	ENST00000336338.5	-	31	4581	c.4516G>C	c.(4516-4518)Gag>Cag	p.E1506Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1506						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTACTGTCCTCACAGTTGGCG	0.517000													23	84					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43430715	43430715	+	RNA	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:43430715C>G	ENST00000406070.2	-	0	959				PSG7_ENST00000446844.3_RNA	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)				TTCAATGCGTCGCTTTACCCT	0.488000													130	469					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945414	58945414	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:58945414C>G	ENST00000254166.3	-	3	1797	c.1397G>C	c.(1396-1398)aGa>aCa	p.R466T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTGAAGTCTCTTCCACATTC	0.463000													22	71					0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86544587	86544587	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:86544587C>T	ENST00000262426.4	+	1	455	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	138					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.R113W(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGGCTCCTTTCGGCGGCGGCC	0.647000													23	106					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6554723	6554723	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:6554723T>C	ENST00000321612.6	-	19	2411	c.2261A>G	c.(2260-2262)aAg>aGg	p.K754R		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	754					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCAGAAGGTCTTGTGAAGATT	0.542000													9	37					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32089429	32089429	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:32089429G>C	ENST00000438447.1	+	20	6263	c.5875G>C	c.(5875-5877)Gaa>Caa	p.E1959Q	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1959Q			O15018	PDZD2_HUMAN	PDZ domain containing 2	1959					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGTGTGCTGGAAAGCAAGCC	0.587000													24	92					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130409661	130409661	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chrX:130409661C>T	ENST00000370904.1	-	22	3858	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	IGSF1_ENST00000370903.3_Missense_Mutation_p.R997Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R983Q|IGSF1_ENST00000361420.3_Missense_Mutation_p.R992Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	992	Ig-like C2-type 10.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GACCGGCCCTCGGCACCAGAG	0.522000													27	82					0	0	1	0	0
KLHDC9	126823	broad.mit.edu	37	1	161069183	161069183	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:161069183C>A	ENST00000392192.2	+	2	717	c.575C>A	c.(574-576)gCg>gAg	p.A192E	KLHDC9_ENST00000368011.4_Missense_Mutation_p.A192E|KLHDC9_ENST00000490724.2_3'UTR	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	192										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTCACTGTGCGGCCCTGCTC	0.522000													4	55					1	1	1	1	0
SYTL3	94120	broad.mit.edu	37	6	159184342	159184342	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:159184342C>T	ENST00000297239.9	+	16	1718	c.1524C>T	c.(1522-1524)ctC>ctT	p.L508L	SYTL3_ENST00000367081.3_Silent_p.L234L|SYTL3_ENST00000360448.3_Silent_p.L440L			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	508	C2 2.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCAGCTGTCTCACTCTGCCAG	0.537000													31	63					0	0	1	0	0
RPL17-C18orf32	100526842	broad.mit.edu	37	18	47016844	47016844	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:47016844C>G	ENST00000584895.1	-	4	309	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	RPL17_ENST00000579248.1_Missense_Mutation_p.E99Q|RPL17_ENST00000418495.1_Missense_Mutation_p.E99Q|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.E61Q|RPL17_ENST00000580261.1_Missense_Mutation_p.E99Q|RPL17_ENST00000581091.1_5'UTR|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000581373.1_Missense_Mutation_p.E61Q|RPL17_ENST00000580210.1_Missense_Mutation_p.E89Q|RPL17_ENST00000579408.1_Missense_Mutation_p.E99Q	NM_001199355.1|NM_001199356.1	NP_001186284.1|NP_001186285.1																					GCATTACTCTCTGCGTTTTTA	0.428000													21	123					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107549185	107549185	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:107549185C>G	ENST00000374736.3	-	47	6671	c.6277G>C	c.(6277-6279)Gag>Cag	p.E2093Q		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2093	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATCTCCCCTCCTTGACAACA	0.433000													4	153					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29037027	29037027	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:29037027G>A	ENST00000257189.4	+	3	239	c.156G>A	c.(154-156)gtG>gtA	p.V52V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	52	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GTGAATGGGTGAAATTTGCCA	0.353000													13	96					0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47380517	47380517	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:47380517A>G	ENST00000378538.3	-	4	593	c.371T>C	c.(370-372)cTg>cCg	p.L124P	SPI1_ENST00000227163.4_Missense_Mutation_p.L125P|SPI1_ENST00000533968.1_Missense_Mutation_p.L124P|SPI1_ENST00000533030.1_Intron	NM_001080547.1|NM_003120.2	NP_001074016.1|NP_003111.2	P17947	SPI1_HUMAN	spleen focus forming virus (SFFV) proviral integration oncogene	124					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	protein binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		GGCTGGGGACAGGGATGGGTA	0.682000													6	22					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91404806	91404806	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:91404806C>T	ENST00000307534.4	-	1	409	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	85					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CTCCTCCCCTCCTCCTGCCGA	0.741000													7	15					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97522564	97522564	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:97522564C>T	ENST00000375315.2	+	1	499	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	C9orf3_ENST00000297979.5_Silent_p.L167L|C9orf3_ENST00000277198.2_Silent_p.L167L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	167					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		TGTGCCAGGTCTGGAAAAATT	0.458000													44	187					0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8722877	8722877	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:8722877G>C	ENST00000381920.3	+	3	682	c.424G>C	c.(424-426)Gac>Cac	p.D142H	METTL22_ENST00000561758.1_Intron	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	142							methyltransferase activity			large_intestine(5)|lung(4)	9						GCCTCTGAGAGACAAGGTACA	0.542000													64	243					0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7676948	7676948	+	Silent	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:7676948C>A	ENST00000446248.2	+	13	1751	c.1650C>A	c.(1648-1650)ccC>ccA	p.P550P	CAMSAP3_ENST00000160298.4_Silent_p.P523P	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	523					epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGCCACACCCCGAGACCCCCT	0.672000													19	94					0.000375601	0.000388197	1	1	0
HS3ST2	9956	broad.mit.edu	37	16	22926611	22926611	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:22926611A>G	ENST00000261374.3	+	2	1266	c.832A>G	c.(832-834)Atc>Gtc	p.I278V		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	278						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CGAGCGACTCATCACTGACCC	0.552000													36	240					0	0	1	0	0
ZAK	51776	broad.mit.edu	37	2	174086030	174086030	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:174086030G>A	ENST00000338983.3	+	12	1335	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	MLTK_ENST00000375213.3_Intron|MLTK_ENST00000539448.1_Silent_p.L380L|MLTK_ENST00000431503.2_Silent_p.L279L|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Intron	NM_133646.2	NP_598407.1																					CCATGATGCTGATGGGCTTTG	0.478000													45	120					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076688	93076688	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:93076688C>T	ENST00000510627.4	-	1	655	c.582G>A	c.(580-582)gaG>gaA	p.E194E	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000395965.3_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000505869.1_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CCAGAAGGTTCTCTGCTTCCA	0.542000													9	68					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767323	105767323	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:105767323G>T	ENST00000374798.3	+	5	480	c.410G>T	c.(409-411)gGa>gTa	p.G137V	CYLC2_ENST00000487798.1_Missense_Mutation_p.G137V	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	137	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TTAaaacaaggaaaaaaagat	0.328000													3	24					0.004672	0.00479942	1	1	0
REG3G	130120	broad.mit.edu	37	2	79254997	79254997	+	Nonsense_Mutation	SNP	G	G	A	rs147143164		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:79254997G>A	ENST00000272324.5	+	5	582	c.398G>A	c.(397-399)tGg>tAg	p.W133*	REG3G_ENST00000409471.1_Nonsense_Mutation_p.W87*|REG3G_ENST00000393897.2_Nonsense_Mutation_p.W133*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	133	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACTTTGCATGGGAGAAAAAT	0.502000													37	179					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055669	93055669	+	Nonstop_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:93055669C>G	ENST00000359558.2	-	16	1825	c.1526G>C	c.(1525-1527)tGa>tCa	p.*509S	CALCR_ENST00000421592.1_Nonstop_Mutation_p.*491S|CALCR_ENST00000426151.1_Nonstop_Mutation_p.*475S|CALCR_ENST00000360249.4_Nonstop_Mutation_p.*491S|CALCR_ENST00000394441.1_Nonstop_Mutation_p.*475S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	0					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCTTCACATTCAAGCAGATGA	0.463000													28	144					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123325105	123325105	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:123325105C>T	ENST00000358487.5	-	3	495	c.223G>A	c.(223-225)Gat>Aat	p.D75N	FGFR2_ENST00000351936.6_Missense_Mutation_p.D75N|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369061.4_Missense_Mutation_p.D75N|FGFR2_ENST00000457416.2_Missense_Mutation_p.D75N|FGFR2_ENST00000369060.4_Missense_Mutation_p.D75N|FGFR2_ENST00000356226.4_Intron|FGFR2_ENST00000369059.1_Intron|FGFR2_ENST00000359354.2_Missense_Mutation_p.D75N|FGFR2_ENST00000346997.2_Missense_Mutation_p.D75N|FGFR2_ENST00000369056.1_Missense_Mutation_p.D75N|FGFR2_ENST00000360144.3_Intron|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	75	Ig-like C2-type 1.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TGCACCCCATCCTTAGTCCAA	0.552000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				60	166					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237843832	237843832	+	Missense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:237843832G>T	ENST00000366574.2	+	62	9289	c.8972G>T	c.(8971-8973)tGc>tTc	p.C2991F	RYR2_ENST00000542537.1_Missense_Mutation_p.C2975F|RYR2_ENST00000360064.6_Missense_Mutation_p.C2989F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2991	Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACCTCTCTGCTCTGGAGGA	0.383000													7	15					2.17888e-05	2.28681e-05	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5020723	5020723	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:5020723A>G	ENST00000382545.3	+	2	1286	c.179A>G	c.(178-180)aAc>aGc	p.N60S	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	60					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGTTCCCCAACACGCTGCTG	0.632000													3	101					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77649163	77649163	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:77649163C>A	ENST00000354212.4	-	22	4090	c.3837G>T	c.(3835-3837)caG>caT	p.Q1279H	MAGI2_ENST00000419488.1_Missense_Mutation_p.Q1265H|MAGI2_ENST00000522391.1_3'UTR	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1279						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTGGGCTTATCTGGTGGGAAG	0.627000													21	102					0.0998962	0.101392	1	1	0
GALK1	2584	broad.mit.edu	37	17	73754672	73754672	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:73754672C>T	ENST00000588479.1	-	6	1376	c.802G>A	c.(802-804)Gac>Aac	p.D268N	GALK1_ENST00000437911.1_Missense_Mutation_p.D298N|GALK1_ENST00000225614.2_Missense_Mutation_p.D268N			P51570	GALK1_HUMAN	galactokinase 1	268					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCACCAGGTCCCTGGCAGCT	0.706000													7	8					0	0	1	0	0
FUT7	2529	broad.mit.edu	37	9	139925416	139925416	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:139925416G>A	ENST00000314412.6	-	2	1793	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	259					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TAGGTGGCCCGTGGGGGCCCC	0.607000													17	85					0	0	1	0	0
WNT3A	89780	broad.mit.edu	37	1	228238393	228238393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:228238393C>A	ENST00000284523.1	+	3	428	c.350C>A	c.(349-351)tCa>tAa	p.S117*	WNT3A_ENST00000366753.2_Nonsense_Mutation_p.S117*	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	117					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				GCCATTGCCTCAGCCGGTGTG	0.632000													13	63					1.49906e-05	1.5782e-05	1	1	0
NPFFR2	10886	broad.mit.edu	37	4	73013182	73013182	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:73013182G>A	ENST00000308744.6	+	4	1320	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	NPFFR2_ENST00000395999.1_Missense_Mutation_p.E309K|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.E306K	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	408					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTCTCCAAATGAACTGCAGAT	0.458000													27	76					0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91382363	91382363	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:91382363C>A	ENST00000370440.1	-	6	4193	c.3976G>T	c.(3976-3978)Gct>Tct	p.A1326S	ZNF644_ENST00000361321.5_Missense_Mutation_p.A104S|ZNF644_ENST00000337393.5_Missense_Mutation_p.A1326S|ZNF644_ENST00000347275.5_Missense_Mutation_p.A104S|ZNF644_ENST00000467231.1_5'UTR			Q9H582	ZN644_HUMAN	zinc finger protein 644	1326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTATGAAGCTGCTTCGGCC	0.363000													3	37					1	1	1	1	0
ZNF132	7691	broad.mit.edu	37	19	58945666	58945666	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:58945666C>G	ENST00000254166.3	-	3	1545	c.1145G>C	c.(1144-1146)aGa>aCa	p.R382T		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GCTGAAGGCTCTTCCACATTT	0.463000													16	62					0	0	1	0	0
POLR3C	10623	broad.mit.edu	37	1	145608189	145608189	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:145608189C>G	ENST00000334163.3	-	4	668	c.508G>C	c.(508-510)Gac>Cac	p.D170H	POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.D170H	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	170					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGCCCAGGGTCTGAATTCTCA	0.478000													31	125					0	0	1	0	0
FAS	355	broad.mit.edu	37	10	90773980	90773980	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:90773980G>A	ENST00000355740.2	+	9	1001	c.781G>A	c.(781-783)Gag>Aag	p.E261K	FAS_ENST00000355279.2_3'UTR|FAS_ENST00000352159.4_3'UTR|FAS_ENST00000357339.2_Missense_Mutation_p.E240K	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	261	Death.|Interaction with HIPK3 (By similarity).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		CAAAATAGATGAGATCAAGAA	0.378000													29	81					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74071950	74071950	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:74071950G>A	ENST00000394070.2	+	3	717	c.214G>A	c.(214-216)Gag>Aag	p.E72K	STAMBP_ENST00000409707.1_Missense_Mutation_p.E72K|STAMBP_ENST00000394073.1_Missense_Mutation_p.E72K|STAMBP_ENST00000339566.3_Missense_Mutation_p.E72K|STAMBP_ENST00000536064.1_Missense_Mutation_p.E72K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	72	Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GCTCTTTATTGAGAAACTACC	0.393000													7	35					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47886925	47886925	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:47886925T>G	ENST00000396105.1	-	3	1670	c.1424A>C	c.(1423-1425)gAa>gCa	p.E475A	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E475A|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E475A	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	475							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGAGATCTTCCTGCTCCCT	0.488000													5	134					0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38168972	38168972	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:38168972G>A	ENST00000373055.1	+	7	810	c.537G>A	c.(535-537)gtG>gtA	p.V179V	CDCA8_ENST00000327331.2_Silent_p.V179V	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	179					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GATTGGAGGTGTCCATGGTCA	0.522000													62	254					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356284	55356284	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:55356284C>G	ENST00000524622.1	-	7	1645	c.984G>C	c.(982-984)caG>caC	p.Q328H	TESPA1_ENST00000531122.1_Missense_Mutation_p.Q328H|TESPA1_ENST00000532804.1_Missense_Mutation_p.Q328H|TESPA1_ENST00000316577.8_Missense_Mutation_p.Q466H|TESPA1_ENST00000449076.1_Missense_Mutation_p.Q466H	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	466																	TGTCTACACTCTGCTTCCATT	0.512000													47	245					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52133946	52133946	+	Missense_Mutation	SNP	T	T	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:52133946T>G	ENST00000596288.1	-	13	2068	c.2041A>C	c.(2041-2043)Act>Cct	p.T681P	MCM3_ENST00000229854.7_Missense_Mutation_p.T636P|MCM3_ENST00000419835.2_Missense_Mutation_p.T590P	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	636					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					AGGTCCACAGTCTTGCTCATG	0.527000													4	151					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42621423	42621423	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:42621423C>G	ENST00000389341.5	-	5	348	c.282G>C	c.(280-282)ttG>ttC	p.L94F	POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529067.1_Missense_Mutation_p.L94F|POU2F2_ENST00000560398.1_Missense_Mutation_p.L116F|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000533720.1_Missense_Mutation_p.L94F|POU2F2_ENST00000529952.1_Missense_Mutation_p.L94F|POU2F2_ENST00000526816.2_Missense_Mutation_p.L94F|POU2F2_ENST00000342301.4_Missense_Mutation_p.L94F	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	94					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GGCTGCCCGTCAACATGAGTT	0.622000													52	212					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44943789	44943789	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:44943789G>A	ENST00000261866.7	-	6	1372	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	SPG11_ENST00000558319.1_Silent_p.L452L|SPG11_ENST00000535302.2_Silent_p.L452L|SPG11_ENST00000559193.1_Silent_p.L452L|SPG11_ENST00000427534.2_Silent_p.L452L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	452					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAAATCCCAGAGGGTAATGG	0.473000													23	137					0	0	1	0	0
RASGRF1	5923	broad.mit.edu	37	15	79350750	79350750	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:79350750C>G	ENST00000419573.3	-	3	731	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.E153Q	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	153					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ACGGTCTTCTCTGTCTCCACG	0.597000													21	106					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145742824	145742824	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr8:145742824C>G	ENST00000428558.2	-	3	228	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	63					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGGAGCGACTCGGAGCTGCGG	0.746000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				4	18					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31201042	31201042	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:31201042C>G	ENST00000254108.7	+	10	1098	c.993C>G	c.(991-993)ggC>ggG	p.G331G	FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.G332G|FUS_ENST00000380244.3_Silent_p.G330G	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	331	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GGGAAACTGGCAAGCTGAAGG	0.443000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								20	162					0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50649150	50649150	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr22:50649150G>A	ENST00000380903.2	+	5	1219	c.1161G>A	c.(1159-1161)cgG>cgA	p.R387R	RP3-402G11.5_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1																					GGAACCTGCGGAAGCTGGCCG	0.662000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	54					0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109935710	109935710	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:109935710C>G	ENST00000342494.3	+	10	1396	c.801C>G	c.(799-801)ctC>ctG	p.L267L	UBE3B_ENST00000280774.5_Silent_p.L267L|UBE3B_ENST00000434735.2_Silent_p.L267L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	267					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGACTCATCTCAGCACAGTGA	0.463000													4	173					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147253	77147253	+	Silent	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:77147253G>T	ENST00000461745.1	+	2	1050	c.150G>T	c.(148-150)ctG>ctT	p.L50L	ROBO2_ENST00000332191.8_Silent_p.L50L|ROBO2_ENST00000487694.3_Silent_p.L66L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	50	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCACGACTCTGAACTGCAAGG	0.597000													10	30					2.68362e-12	2.97303e-12	1	1	0
PBRM1	55193	broad.mit.edu	37	3	52713719	52713719	+	Silent	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:52713719G>T	ENST00000356770.4	-	1	11	c.9C>A	c.(7-9)tcC>tcA	p.S3S	PBRM1_ENST00000394830.3_Silent_p.S3S|PBRM1_ENST00000410007.1_Silent_p.S3S|PBRM1_ENST00000409767.1_Silent_p.S3S|PBRM1_ENST00000409114.3_Silent_p.S3S|PBRM1_ENST00000409057.1_Silent_p.S3S|PBRM1_ENST00000296302.7_Silent_p.S3S|PBRM1_ENST00000337303.4_Silent_p.S3S			Q86U86	PB1_HUMAN	polybromo 1	3					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTTCTCTTGGAACCCATGG	0.473000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								8	53					7.48243e-07	7.97655e-07	1	1	0
NFAT5	10725	broad.mit.edu	37	16	69718866	69718866	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:69718866C>T	ENST00000349945.1	+	12	3037	c.1485C>T	c.(1483-1485)gcC>gcT	p.A495A	NFAT5_ENST00000566899.1_Silent_p.A495A|NFAT5_ENST00000393742.2_Silent_p.A495A|NFAT5_ENST00000432919.1_Silent_p.A589A|NFAT5_ENST00000354436.2_Silent_p.A571A|NFAT5_ENST00000567239.1_Silent_p.A588A	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	571					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTGAAGAGGCCATGAAAGGTA	0.353000													7	48					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43269774	43269774	+	Translation_Start_Site	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:43269774C>A	ENST00000404209.4	-	0	56				PSG8_ENST00000406636.3_De_novo_Start_InFrame|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000306511.4_De_novo_Start_InFrame	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGAGATGAGCCTAGGATCCAG	0.607000													15	60					7.93312e-07	8.43049e-07	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228486202	228486202	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:228486202G>A	ENST00000570156.2	+	49	13068	c.12994G>A	c.(12994-12996)Gaa>Aaa	p.E4332K	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.E1022K|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2749K|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3375	Ig-like 44.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGCCTCAGAAGGGGCCAC	0.572000													41	159					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69018214	69018214	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:69018214G>C	ENST00000543950.1	+	12	1683	c.1329G>C	c.(1327-1329)gaG>gaC	p.E443D	CORO2B_ENST00000261861.5_Missense_Mutation_p.E443D|CORO2B_ENST00000566799.1_Missense_Mutation_p.E448D|CORO2B_ENST00000540068.1_Missense_Mutation_p.E443D	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	448					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGCAGGATGAGATTCGACGGT	0.572000													20	98					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305270	61305270	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:61305270G>C	ENST00000341074.5	-	8	971	c.856C>G	c.(856-858)Cgg>Ggg	p.R286G	SERPINB4_ENST00000356424.6_Missense_Mutation_p.R234G	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ATTTTGAACCGAGGTAAGTGT	0.433000													19	93					0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41953120	41953120	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:41953120C>T	ENST00000301831.4	-	10	1390	c.928G>A	c.(928-930)Gat>Aat	p.D310N	ULK4_ENST00000420927.1_Missense_Mutation_p.D310N	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	310							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCCTTGGAATCTTGTGGCCCA	0.388000													17	53					0	0	1	0	0
MESP2	145873	broad.mit.edu	37	15	90319945	90319945	+	Silent	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:90319945G>T	ENST00000341735.3	+	1	357	c.357G>T	c.(355-357)ctG>ctT	p.L119L	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	119	Helix-loop-helix motif.				Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GCCAGAGCCTGACCAAGATCG	0.701000													6	17					3.09899e-07	3.34572e-07	1	1	0
SAV1	60485	broad.mit.edu	37	14	51132059	51132059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr14:51132059C>A	ENST00000324679.4	-	2	736	c.373G>T	c.(373-375)Gaa>Taa	p.E125*		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	125					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					TCTCCATTTTCAACAGCAAAA	0.408000													7	21					7.48243e-07	7.97655e-07	1	1	0
ZCCHC11	23318	broad.mit.edu	37	1	52901122	52901122	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:52901122C>A	ENST00000371544.3	-	27	4437	c.4175G>T	c.(4174-4176)cGc>cTc	p.R1392L	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393L	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1392					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TACAAGGTTGCGGACCAGCTG	0.428000													18	58					1.00905e-13	1.13267e-13	1	1	0
ATAD3C	219293	broad.mit.edu	37	1	1390852	1390852	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:1390852C>T	ENST00000378785.2	+	5	1386	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	131							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTCAGCCGGCGGCTCCTCAG	0.652000													13	31					0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945763	58945763	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:58945763C>G	ENST00000254166.3	-	3	1448	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	350						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCACATTCATCACACTCATAA	0.418000													15	66					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904094	5904094	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:5904094G>A	ENST00000378961.4	+	4	1508	c.1304G>A	c.(1303-1305)aGa>aAa	p.R435K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	435						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TCTGACACCAGAGAAGAGAAA	0.557000													16	91					0	0	1	0	0
UBE2E3	10477	broad.mit.edu	37	2	181925523	181925523	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:181925523G>C	ENST00000410062.4	+	5	903	c.510G>C	c.(508-510)ttG>ttC	p.L170F	UBE2E3_ENST00000392415.2_Missense_Mutation_p.L170F|UBE2E3_ENST00000602959.1_Missense_Mutation_p.L170F|UBE2E3_ENST00000602710.1_Missense_Mutation_p.L170F|UBE2E3_ENST00000602837.1_3'UTR	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	170					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						GTTCCCTTTTGACAGACTGCA	0.348000													13	57					0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176289834	176289834	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:176289834G>C	ENST00000329542.4	+	2	554	c.280G>C	c.(280-282)Gac>Cac	p.D94H		NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	94	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGCAGCACAGACGGGAGCAG	0.677000													22	168					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229551	39229551	+	Silent	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:39229551C>G	ENST00000340369.3	-	2	1614	c.1386G>C	c.(1384-1386)ggG>ggC	p.G462G	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.G462G	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	462							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)		TGCTTGGACTCCCATGGGCCA	0.567000													79	199					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114506854	114506854	+	Silent	SNP	T	T	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:114506854T>A	ENST00000379618.2	-	2	637	c.129A>T	c.(127-129)acA>acT	p.T43T	TRIM36_ENST00000282369.3_Intron|TRIM36_ENST00000514154.1_Intron	NM_001017397.1	NP_001017397.1	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	558						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AGTCTGTCGCTGTGGCAAGTT	0.478000													7	99					0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136678164	136678164	+	Missense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:136678164C>A	ENST00000264161.4	-	10	1033	c.818G>T	c.(817-819)aGa>aTa	p.R273I	DARS_ENST00000537273.1_Missense_Mutation_p.R173I	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	273					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GTCTTCCGCTCTGAATACTGT	0.313000													16	68					1.33834e-09	1.46354e-09	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124391388	124391388	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:124391388C>G	ENST00000368909.3	+	47	6083	c.5977C>G	c.(5977-5979)Cct>Gct	p.P1993A	DMBT1_ENST00000368955.3_Missense_Mutation_p.P1983A|DMBT1_ENST00000368956.2_Missense_Mutation_p.P1365A|DMBT1_ENST00000344338.3_Missense_Mutation_p.P1983A|DMBT1_ENST00000359586.6_Missense_Mutation_p.P713A|DMBT1_ENST00000330163.4_Missense_Mutation_p.P1365A|DMBT1_ENST00000338354.3_Missense_Mutation_p.P1993A	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1993					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTATCGACACCTGGTAAGTC	0.493000													12	35					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133812364	133812364	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:133812364G>A	ENST00000285928.2	+	1	313	c.244G>A	c.(244-246)Gag>Aag	p.E82K	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	82							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGACCAGGGCGAGGGCGAGGC	0.617000													22	145					0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88327782	88327782	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:88327782G>A	ENST00000347055.3	-	4	694	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	101										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						CAGTAGCTCAGAGAGTCTAGT	0.443000													25	73					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046235	76046235	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:76046235G>C	ENST00000335749.4	+	3	1661	c.1092G>C	c.(1090-1092)gaG>gaC	p.E364D	TNRC6C_ENST00000588847.1_Missense_Mutation_p.E364D|TNRC6C_ENST00000301624.4_Missense_Mutation_p.E364D|TNRC6C_ENST00000588061.1_Missense_Mutation_p.E364D|TNRC6C_ENST00000544502.1_Missense_Mutation_p.E364D|TNRC6C_ENST00000541771.1_Missense_Mutation_p.E364D	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	364	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGGGTGGGAGAGTCCTAGTG	0.542000													53	52					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89930239	89930239	+	Missense_Mutation	SNP	C	C	T	rs146263316		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:89930239C>T	ENST00000378247.3	+	12	1791	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	SPIRE2_ENST00000393062.2_Missense_Mutation_p.S583L	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	583	Cys-rich.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCGCTGTTCTCGTGGCCGCCC	0.617000													16	80					0	0	1	0	0
PCDHGC3	5098	broad.mit.edu	37	5	140856119	140856119	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:140856119G>A	ENST00000308177.3	+	1	540	c.436G>A	c.(436-438)Gag>Aag	p.E146K	PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGATTAGCGAGGCCGTGGC	0.547000													5	74					0	0	1	0	0
TMTC3	160418	broad.mit.edu	37	12	88570062	88570062	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:88570062G>A	ENST00000266712.6	+	10	1618	c.1398G>A	c.(1396-1398)ttG>ttA	p.L466L		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	466						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AGAGAGCTTTGAAATACTTCT	0.313000													15	48					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127970944	127970944	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:127970944C>T	ENST00000223073.1	-	10	1171	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	RBM28_ENST00000415472.2_Missense_Mutation_p.E212K	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	353	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TGGAGAAGCTCCCCAAGTTCT	0.423000													16	135					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891879	6891879	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:6891879C>T	ENST00000307322.4	+	1	956	c.894C>T	c.(892-894)ctC>ctT	p.L298L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCCTAGCCCTCAGAAACTGTA	0.453000													5	71					0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201972488	201972488	+	Missense_Mutation	SNP	T	T	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:201972488T>C	ENST00000295640.4	+	9	1593	c.1550T>C	c.(1549-1551)cTg>cCg	p.L517P	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.L478P	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	517					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GCCGAGGAGCTGGACATGAAG	0.592000													12	48					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891559	6891559	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:6891559C>G	ENST00000307322.4	+	1	636	c.574C>G	c.(574-576)Ctg>Gtg	p.L192V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGGAACCATTCTGGTGGTCAT	0.502000													45	142					0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172195853	172195853	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:172195853C>T	ENST00000375258.3	-	4	662	c.447G>A	c.(445-447)gtG>gtA	p.V149V				B3KW44	B3KW44_HUMAN	methyltransferase like 8	149							methyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						TTTCATCAGGCACAGTAGGAC	0.368000													19	135					0	0	1	0	0
MAGEF1	64110	broad.mit.edu	37	3	184429374	184429374	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:184429374G>A	ENST00000317897.3	-	1	462	c.236C>T	c.(235-237)aCg>aTg	p.T79M		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	79	MAGE.									breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			CTCCGCCACCGTCCGATTCAG	0.612000													39	103					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29375645	29375645	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:29375645C>T	ENST00000320081.5	+	9	1371	c.1116C>T	c.(1114-1116)atC>atT	p.I372I	CLIP4_ENST00000401617.2_Silent_p.I265I|CLIP4_ENST00000401605.1_Silent_p.I372I|CLIP4_ENST00000404424.1_Silent_p.I372I	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	372										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TACCTCTCATCAGGTCCCAGA	0.373000													14	50					0	0	1	0	0
CAMLG	819	broad.mit.edu	37	5	134077181	134077181	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:134077181C>T	ENST00000297156.2	+	2	721	c.601C>T	c.(601-603)Ctt>Ttt	p.L201F	CAMLG_ENST00000514518.1_Intron	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	201					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TCTTCTTGCTCTTGGAGTCAG	0.333000													13	109					0	0	1	0	0
HOXC11	3227	broad.mit.edu	37	12	54369146	54369146	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:54369146G>C	ENST00000546378.1	+	2	980	c.864G>C	c.(862-864)aaG>aaC	p.K288N	HOXC11_ENST00000243082.4_Missense_Mutation_p.E290Q			O43248	HXC11_HUMAN	homeobox C11	288					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TGAAAGAAAAGAAACTGAGCA	0.498000			T	NUP98	AML								20	52					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133767825	133767825	+	Silent	SNP	T	T	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:133767825T>C	ENST00000367895.5	+	4	605	c.141T>C	c.(139-141)acT>acC	p.T47T	EYA4_ENST00000430974.2_Silent_p.T47T|EYA4_ENST00000531901.1_Silent_p.T47T|EYA4_ENST00000355286.6_Silent_p.T47T|EYA4_ENST00000525849.1_Silent_p.T47T|EYA4_ENST00000355167.3_Silent_p.T47T|EYA4_ENST00000452339.2_Silent_p.T47T|EYA4_ENST00000431403.2_Silent_p.T47T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	47					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GTGGTGATACTCCAGGTAGCT	0.448000													20	72					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	117					0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53908079	53908079	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:53908079G>C	ENST00000396328.1	-	15	2563	c.2324C>G	c.(2323-2325)tCc>tGc	p.S775C	WDR72_ENST00000360509.5_Missense_Mutation_p.S775C|WDR72_ENST00000559418.1_Missense_Mutation_p.S785C|WDR72_ENST00000557913.1_Missense_Mutation_p.S772C	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	775										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CATTTTTTTGGAGATCTTCAT	0.408000													30	186					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82815822	82815822	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:82815822C>T	ENST00000265077.3	+	7	2262	c.1697C>T	c.(1696-1698)tCt>tTt	p.S566F	VCAN_ENST00000512590.2_Missense_Mutation_p.S518F|VCAN_ENST00000342785.4_Missense_Mutation_p.S566F|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	566	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACAGTTGGATCTGATGAGAGC	0.418000													38	156					0	0	1	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569287	2569287	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:2569287G>A	ENST00000564543.1	+	2	1151	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ATP6V0C_ENST00000564973.1_Missense_Mutation_p.E7K|ATP6V0C_ENST00000568562.1_Missense_Mutation_p.G32E|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000330398.4_Missense_Mutation_p.E50K|ATP6V0C_ENST00000565223.1_Missense_Mutation_p.E7K														p.E50K(1)									CATGCGGCCGGAGCAGATCAT	0.622000													11	73					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723297	58723297	+	Nonsense_Mutation	SNP	G	G	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:58723297G>T	ENST00000300079.5	+	7	849	c.799G>T	c.(799-801)Gaa>Taa	p.E267*	RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Nonsense_Mutation_p.E236*	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	236						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTACAGCATGGAAAAATACCG	0.493000													10	33					6.40141e-05	6.67716e-05	1	1	0
SCAPER	49855	broad.mit.edu	37	15	76995253	76995253	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:76995253C>T	ENST00000538941.2	-	19	2539	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	SCAPER_ENST00000563290.1_Missense_Mutation_p.D780N|SCAPER_ENST00000324767.7_Missense_Mutation_p.D780N	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	779	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGGGCATAATCAGTATTTGCA	0.393000													34	124					0	0	1	0	0
PTAR1	375743	broad.mit.edu	37	9	72333267	72333267	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:72333267C>G	ENST00000377200.5	-	5	1046	c.1044G>C	c.(1042-1044)ttG>ttC	p.L348F	PTAR1_ENST00000340434.4_Missense_Mutation_p.L400F			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	400					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						TTCATTGACTCAAAGTAACCA	0.393000													4	23					0	0	1	0	0
LPCAT1	79888	broad.mit.edu	37	5	1489874	1489874	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:1489874C>T	ENST00000283415.3	-	4	725	c.593G>A	c.(592-594)gGa>gAa	p.G198E		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	198					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TGGCCACTTTCCGTTGGACTG	0.517000													43	144					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127064309	127064309	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:127064309G>A	ENST00000373600.3	+	3	383	c.168G>A	c.(166-168)ggG>ggA	p.G56G	NEK6_ENST00000394199.2_Silent_p.G56G|NEK6_ENST00000540326.1_Silent_p.G40G|NEK6_ENST00000539416.1_Silent_p.G47G|NEK6_ENST00000545174.1_Silent_p.G22G|NEK6_ENST00000373603.1_Silent_p.G22G|NEK6_ENST00000320246.5_Silent_p.G22G|NEK6_ENST00000546191.1_Silent_p.G22G	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	22	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						ACACCCTGGGGCCTGTGCATC	0.592000													4	21					0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136646998	136646998	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:136646998C>T	ENST00000481752.1	+	2	319	c.155C>T	c.(154-156)cCt>cTt	p.P52L	NCK1_ENST00000288986.2_Missense_Mutation_p.P52L			P16333	NCK1_HUMAN	NCK adaptor protein 1	52	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGTTTTGTGCCTTCTAACTAT	0.368000													17	52					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380510	3380510	+	Silent	SNP	T	T	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:3380510T>C	ENST00000354599.6	-	4	1616	c.1512A>G	c.(1510-1512)aaA>aaG	p.K504K	ZNF195_ENST00000343338.7_Silent_p.K508K|ZNF195_ENST00000005082.9_Silent_p.K553K|ZNF195_ENST00000429541.2_Silent_p.K508K|ZNF195_ENST00000399602.4_Silent_p.K576K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Silent_p.K557K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	576					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGTTTCTCTCCAG	0.393000													4	116					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	159922446	159922446	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:159922446G>A	ENST00000263635.6	+	3	261	c.24G>A	c.(22-24)aaG>aaA	p.K8K	TANC1_ENST00000454300.1_Silent_p.K8K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	8						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGAAGAAGAGCCGAGAGG	0.458000													35	153					0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56156583	56156583	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:56156583C>G	ENST00000452681.2	-	2	201	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	PHKG1_ENST00000297373.2_Missense_Mutation_p.E18Q|PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000489604.1_5'UTR	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	18					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCATAATTCTCATAGAAGTCC	0.562000													12	51					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47560965	47560965	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:47560965G>A	ENST00000273859.3	+	13	2729	c.2460G>A	c.(2458-2460)caG>caA	p.Q820Q	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	820					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAAACAACAGATGATAGTAA	0.403000													42	104					0	0	1	0	0
RTN4RL2	349667	broad.mit.edu	37	11	57235412	57235412	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:57235412C>T	ENST00000335099.3	+	2	679	c.362C>T	c.(361-363)tCg>tTg	p.S121L	RTN4RL2_ENST00000395120.2_Missense_Mutation_p.S121L|RTN4RL2_ENST00000533205.1_Missense_Mutation_p.S121L	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	121					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CACCTGCGCTCGCTGGAGCCC	0.647000													28	87					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27401271	27401271	+	Silent	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr8:27401271G>C	ENST00000521400.1	+	17	1885	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	EPHX2_ENST00000521780.1_Silent_p.L419L|EPHX2_ENST00000380476.3_Silent_p.L432L|EPHX2_ENST00000518379.1_Silent_p.L453L|EPHX2_ENST00000517536.1_Silent_p.L302L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	485	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CCCAGATCCTGATTCCGGCCC	0.602000													15	82					0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16817148	16817148	+	RNA	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:16817148C>T	ENST00000263511.4	-	0	1119					NR_023386.1																						TCCCGCTGCTCCAGCTCCTTG	0.657000													4	19					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70902626	70902626	+	Silent	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr16:70902626G>A	ENST00000393567.2	-	66	11307	c.11157C>T	c.(11155-11157)atC>atT	p.I3719I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3719										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCTTTAGGTTGATGGGTACAT	0.507000													11	41					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859601	131859601	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:131859601C>G	ENST00000359827.3	-	21	4915	c.3953G>C	c.(3952-3954)aGa>aCa	p.R1318T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1318T			Q9HCM2	PLXA4_HUMAN	plexin A4	1318						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGTGTAAGTTCTATAGTCCAG	0.572000													35	310					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784185	9784185	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:9784185C>G	ENST00000304374.2	+	1	928	c.532C>G	c.(532-534)Ctc>Gtc	p.L178V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	178					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TCCGGTCCAGCTCAACTGGCA	0.627000													11	38					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13397674	13397674	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:13397674C>G	ENST00000360228.5	-	20	3195	c.3196G>C	c.(3196-3198)Gac>Cac	p.D1066H	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1067H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1067					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCATGTTGTCAATATCCTCT	0.672000													17	57					0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52901123	52901123	+	Missense_Mutation	SNP	G	G	A	rs143272455		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:52901123G>A	ENST00000371544.3	-	27	4436	c.4174C>T	c.(4174-4176)Cgc>Tgc	p.R1392C	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1393C	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1392					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ACAAGGTTGCGGACCAGCTGG	0.433000													18	58					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													4	63					0.00909568	0.00925957	1	1	0
DPP10	57628	broad.mit.edu	37	2	116593822	116593822	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:116593822G>C	ENST00000410059.1	+	22	2520	c.2040G>C	c.(2038-2040)ttG>ttC	p.L680F	DPP10_ENST00000393147.2_Missense_Mutation_p.L684F|DPP10_ENST00000409163.1_Missense_Mutation_p.L630F|DPP10_ENST00000310323.8_Missense_Mutation_p.L673F	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	680					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCACAGACTTGAAATTGTATG	0.368000													16	66					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79831884	79831884	+	Nonsense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:79831884C>G	ENST00000335016.5	+	16	2349	c.2183C>G	c.(2182-2184)tCa>tGa	p.S728*	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	728						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AAGAAAACCTCAGTACAGGGT	0.413000													22	41					0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118582222	118582222	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:118582222G>C	ENST00000263239.2	+	8	1272	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	382	Helicase ATP-binding.			E -> G (in Ref. 4; CAG33341).			ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCTGAAAAAGGAGCCATTGTA	0.388000													43	142					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44777994	44777994	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr19:44777994G>C	ENST00000391958.2	+	5	1308	c.1181G>C	c.(1180-1182)gGa>gCa	p.G394A	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.G376A|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GACAGTGCTGGAGAGAGAGCC	0.448000													18	83					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148730380	148730380	+	Silent	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:148730380C>A	ENST00000535373.1	-	5	585	c.153G>T	c.(151-153)ctG>ctT	p.L51L	ORC4_ENST00000392858.1_Silent_p.L51L|ORC4_ENST00000540442.1_5'UTR|ORC4_ENST00000392857.4_Silent_p.L51L|ORC4_ENST00000264169.2_Silent_p.L51L|ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Intron	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	51					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CAGTTCTTTTCAGCAGCTCAC	0.348000													9	57					1.08611e-07	1.17633e-07	1	1	0
HRG	3273	broad.mit.edu	37	3	186395478	186395478	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:186395478C>T	ENST00000232003.4	+	7	1464	c.1384C>T	c.(1384-1386)Cct>Tct	p.P462S		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	462	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		GTACCGACTCCCTCCTCTAAG	0.557000													26	79					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	93225895	93225895	+	Splice_Site	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:93225895G>A	ENST00000282020.4	+	1	346	c.88_splice	c.e1+1	p.G30_splice	GRID2_ENST00000510992.1_Splice_Site_p.G30_splice|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	30					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CATTCACATCGGTAAGAAAGT	0.502000													14	59					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20475779	20475779	+	Silent	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:20475779C>A	ENST00000202677.6	-	36	5491	c.5349G>T	c.(5347-5349)gcG>gcT	p.A1783A		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1783	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TCTTCGTTATCGCGATGAAGA	0.388000													4	175					0.00024832	0.000257433	1	1	0
ARMCX6	54470	broad.mit.edu	37	X	100871508	100871508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chrX:100871508C>A	ENST00000539247.1	-	4	535	c.103G>T	c.(103-105)Gag>Tag	p.E35*	ARMCX6_ENST00000497931.1_Intron|ARMCX6_ENST00000538627.1_Nonsense_Mutation_p.E35*|ARMCX6_ENST00000361910.4_Nonsense_Mutation_p.E35*	NM_001184768.1	NP_001171697.1	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	35						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						tccagcttctcACTGTCATCT	0.562000													16	35					3.52763e-06	3.72544e-06	1	1	0
IL20RB	53833	broad.mit.edu	37	3	136701011	136701011	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:136701011G>C	ENST00000329582.4	+	3	474	c.225G>C	c.(223-225)gaG>gaC	p.E75D	IL20RB_ENST00000309741.5_Missense_Mutation_p.E28D|IL20RB-AS1_ENST00000462176.2_RNA|IL20RB_ENST00000484501.1_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	75	Fibronectin type-III 1.					integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GGGAGTACGAGAGCCTGTACA	0.532000													17	55					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220273987	220273987	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:220273987G>C	ENST00000366922.1	+	3	661	c.330G>C	c.(328-330)aaG>aaC	p.K110N	IARS2_ENST00000302637.5_Missense_Mutation_p.K182N			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	182					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAATTAGAAAGAAAGGTAAAT	0.353000													9	35					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55175851	55175851	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:55175851G>C	ENST00000421030.2	+	24	4248	c.3963G>C	c.(3961-3963)ttG>ttC	p.L1321F	MROH7_ENST00000409996.1_Missense_Mutation_p.L889F|MROH7_ENST00000454855.2_Missense_Mutation_p.L839F|MROH7_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7																		AGATGTCCTTGAAGAAGTGAC	0.582000													13	41					0	0	1	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389198	1389198	+	Missense_Mutation	SNP	C	C	T	rs71299249		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:1389198C>T	ENST00000324803.4	+	1	3859	c.899C>T	c.(898-900)cCg>cTg	p.P300L		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	300					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GTGGAGTGCCCGCCTGCTCAC	0.677000													7	401					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329308	152329308	+	Silent	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:152329308C>T	ENST00000388718.5	-	3	1026	c.954G>A	c.(952-954)caG>caA	p.Q318Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	318	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAATTCCTGACTGACAGCCTG	0.483000													59	294					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68530098	68530098	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr11:68530098C>G	ENST00000265641.5	-	15	2026	c.1872G>C	c.(1870-1872)caG>caC	p.Q624H	CPT1A_ENST00000540367.1_Missense_Mutation_p.Q624H|CPT1A_ENST00000539743.1_Missense_Mutation_p.Q624H|CPT1A_ENST00000376618.2_Missense_Mutation_p.Q624H|CPT1A_ENST00000537756.2_5'UTR	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	624					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	ACATTACCGTCTGGGCCGGGT	0.597000													14	73					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43529946	43529946	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:43529946C>G	ENST00000306846.3	-	10	1520	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	PAIP1_ENST00000436644.2_Missense_Mutation_p.E351Q|PAIP1_ENST00000338972.4_Missense_Mutation_p.E318Q|PAIP1_ENST00000514514.1_Intron	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	430					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AAAAAGTCCTCTCTTTCAAGT	0.348000													14	58					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152328282	152328282	+	Silent	SNP	T	T	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:152328282T>C	ENST00000388718.5	-	3	2052	c.1980A>G	c.(1978-1980)tcA>tcG	p.S660S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	660	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGAGCCTGATCCATATT	0.488000													7	436					0	0	1	0	0
PTPN2	5771	broad.mit.edu	37	18	12859241	12859241	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:12859241C>T	ENST00000309660.5	-	2	175	c.82G>A	c.(82-84)Gag>Aag	p.E28K	PTPN2_ENST00000589086.1_5'UTR|PTPN2_ENST00000591115.1_Missense_Mutation_p.E28K|PTPN2_ENST00000353319.4_Missense_Mutation_p.E28K|PTPN2_ENST00000327283.3_Missense_Mutation_p.E28K	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	28	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				TCATGGGACTCATTTCGAATT	0.358000													10	51					0	0	1	0	0
CRIP3	401262	broad.mit.edu	37	6	43274007	43274007	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:43274007G>C	ENST00000372569.3	-	6	449	c.445C>G	c.(445-447)Ctg>Gtg	p.L149V	CRIP3_ENST00000274990.4_Missense_Mutation_p.L149V	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	149	LIM zinc-binding 2.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGGCACCTCAGACACGGTCGG	0.547000													20	92					0	0	1	0	0
ESRP1	54845	broad.mit.edu	37	8	95658444	95658444	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr8:95658444G>C	ENST00000433389.2	+	4	614	c.424G>C	c.(424-426)Gaa>Caa	p.E142Q	ESRP1_ENST00000423620.2_Missense_Mutation_p.E142Q|ESRP1_ENST00000358397.5_Missense_Mutation_p.E142Q|ESRP1_ENST00000454170.2_Missense_Mutation_p.E142Q	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	142					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCTTCGAAAAGAATTCAAGAA	0.353000													23	109					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212771	43212771	+	Missense_Mutation	SNP	G	G	A			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr1:43212771G>A	ENST00000236040.4	-	14	2267	c.2227C>T	c.(2227-2229)Ctc>Ttc	p.L743F	LEPRE1_ENST00000296388.5_Intron|LEPRE1_ENST00000462474.1_Intron|LEPRE1_ENST00000397054.3_Intron	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCCAGGGAGGACAAGGCAA	0.567000													4	96					0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25366682	25366682	+	Missense_Mutation	SNP	C	C	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:25366682C>T	ENST00000302874.4	+	12	1324	c.1300C>T	c.(1300-1302)Cca>Tca	p.P434S		NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	434							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				CTGTGCTGTTCCAGATCATTC	0.383000													24	86					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568044	5568044	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr7:5568044C>G	ENST00000331789.5	-	4	861	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	224					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		ATCTCTTGCTCGAAGTCCAGG	0.607000													25	148					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131471786	131471786	+	Missense_Mutation	SNP	G	G	C			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:131471786G>C	ENST00000261654.5	+	6	1196	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	GPR133_ENST00000535015.1_Missense_Mutation_p.E245Q	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	213					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GATAGGGTCTGAGCAGGACCA	0.537000													31	185					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78915478	78915478	+	Missense_Mutation	SNP	C	C	G			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr5:78915478C>G	ENST00000453514.1	+	2	700	c.7C>G	c.(7-9)Cca>Gca	p.P3A	PAPD4_ENST00000504233.1_Missense_Mutation_p.P3A|PAPD4_ENST00000423041.2_Missense_Mutation_p.P3A|PAPD4_ENST00000296783.3_Missense_Mutation_p.P3A|PAPD4_ENST00000428308.2_Missense_Mutation_p.P3A	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	3					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GAGCATGTTCCCAAACTCAAT	0.358000													20	42					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220313717	220313717	+	Frame_Shift_Del	DEL	C	C	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr2:220313717delC	ENST00000312358.7	+	4	1969	c.1837delC	c.(1837-1839)ccfs	p.P614fs	SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Frame_Shift_Del_p.P510fs	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	614	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCTGTGCCGCCCCCCGCCGC	0.741													2	4	---	---	---	---					
DNAH12	201625	broad.mit.edu	37	3	57494923	57494924	+	In_Frame_Ins	INS	-	-	ACA			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:57494923_57494924insACA	ENST00000351747.2	-	6	665_666	c.485_486insTGT	c.(484-486)gaa>gTGTaa	p.162_162E>V*	DNAH12_ENST00000311202.6_In_Frame_Ins_p.162_162E>V*|DNAH12_ENST00000389536.4_In_Frame_Ins_p.162_162E>V*	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	162	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CTGGTGGTTTCACAAGAACGCT	0.322													8	123	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195713385	195713386	+	RNA	INS	-	-	T			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr3:195713385_195713386insT	ENST00000427841.1	-	0	176					NR_003264.2																						AAAGCATGAACTTACGGAATCT	0.401													4	3	---	---	---	---					
ANKRD17	26057	broad.mit.edu	37	4	74005309	74005311	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr4:74005309_74005311delTTG	ENST00000358602.4	-	15	3138_3140	c.3022_3024delCAA	c.(3022-3024)del	p.Q1008del	ANKRD17_ENST00000330838.6_Intron|ANKRD17_ENST00000509867.2_In_Frame_Del_p.Q895del|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1008	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATTAACCCTTGTTGTGTTTCT	0.483													12	53	---	---	---	---					
MAP3K4	4216	broad.mit.edu	37	6	161413044	161413045	+	In_Frame_Ins	INS	-	-	CCG			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr6:161413044_161413045insCCG	ENST00000392142.4	+	1	229_230	c.81_82insCCG	c.(79-84)cccgcc>ccCCGcgcc	p.27_28PA>PRA	MAP3K4_ENST00000366919.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000366920.2_In_Frame_Ins_p.27_28PA>PRA|MAP3K4_ENST00000348824.7_In_Frame_Ins_p.27_28PA>PRA	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	27	Poly-Pro.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		Agccgccgccaccgccgccgcc	0.738													6	2	---	---	---	---					
CKS2	1164	broad.mit.edu	37	9	91930174	91930175	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr9:91930174_91930175delAG	ENST00000314355.6	+	2	244_245	c.149_150delAG	c.(148-150)cfs	p.Q50fs		NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	50					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						GGTGTCCAACAGAGTCTAGGCT	0.401													41	188	---	---	---	---					
DOCK1	1793	broad.mit.edu	37	10	128904494	128904494	+	Splice_Site	DEL	G	G	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr10:128904494delG	ENST00000280333.6	+	24	2491		c.e24-1			NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1						apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTGATTTGCAGGGGGCAGCAC	0.448													5	8	---	---	---	---					
CDK2	1017	broad.mit.edu	37	12	56365344	56365344	+	Frame_Shift_Del	DEL	A	A	-	rs148619120		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:56365344delA	ENST00000266970.4	+	7	1072	c.832delA	c.(832-834)agfs	p.K278fs	CDK2_ENST00000440311.2_Frame_Shift_Del_p.K218fs|CDK2_ENST00000354056.4_Frame_Shift_Del_p.K244fs|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000553376.1_Frame_Shift_Del_p.K326fs	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	278	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			GATTTCGGCCAAGGCAGCCCT	0.527													12	285	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132446446	132446448	+	In_Frame_Del	DEL	GAG	GAG	-	rs62635809	byFrequency	TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr12:132446446_132446448delGAG	ENST00000333577.4	+	2	1391_1393	c.1282_1284delGAG	c.(1282-1284)del	p.E437del	EP400_ENST00000330386.6_In_Frame_Del_p.E437del|EP400_ENST00000389562.2_In_Frame_Del_p.E437del|EP400_ENST00000389561.2_In_Frame_Del_p.E437del|EP400_ENST00000332482.4_In_Frame_Del_p.E437del			Q96L91	EP400_HUMAN	E1A binding protein p400	437	Poly-Glu.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.E428E(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CATTgaagaagaggaggaggagg	0.379													7	100	---	---	---	---					
TPTE2P2	644623	broad.mit.edu	37	13	52857402	52857402	+	RNA	DEL	A	A	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr13:52857402delA	ENST00000451298.1	-	0	303				RP11-64P12.8_ENST00000606031.1_RNA																							ACTTAACGTCAAAAAAAATGT	0.289													3	6	---	---	---	---					
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2																						tttttaaactaaaaaaaaaaa	0.373													5	9	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29664546	29664547	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr17:29664546_29664547delTT	ENST00000358273.4	+	43	6971_6972	c.6588_6589delTT	c.(6586-6591)acttfs	p.TF2196fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.TF2175fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2196					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAGAGAGACTTTTGCTTTGAC	0.416			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			46	141	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													5	9	---	---	---	---					
XRN2	22803	broad.mit.edu	37	20	21349164	21349164	+	Frame_Shift_Del	DEL	T	T	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:21349164delT	ENST00000377191.3	+	27	2615	c.2520delT	c.(2518-2520)acfs	p.T840fs	XRN2_ENST00000539513.1_Frame_Shift_Del_p.T786fs|XRN2_ENST00000430571.2_Frame_Shift_Del_p.T764fs	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	840					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CACCTGTGACTTACCAGGGAA	0.398													29	165	---	---	---	---					
NCOA6	23054	broad.mit.edu	37	20	33330968	33330970	+	In_Frame_Del	DEL	TGC	TGC	-	rs140426729	byFrequency	TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chr20:33330968_33330970delTGC	ENST00000374796.2	-	12	5660_5662	c.3090_3092delGCA	c.(3088-3093)caa>ca	p.QQ1030del	NCOA6_ENST00000359003.2_In_Frame_Del_p.QQ1030del			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1030	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CATCATTtgttgctgctgctgct	0.576													8	200	---	---	---	---					
NRK	203447	broad.mit.edu	37	X	105125740	105125740	+	Frame_Shift_Del	DEL	A	A	-			TCGA-95-7944-01A-11D-2184-08	TCGA-95-7944-10A-01D-2184-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4e16923-0e7d-45f1-8fbc-e689b643c905	269d2438-de7c-4706-8e4a-991d4694f9e7	g.chrX:105125740delA	ENST00000428173.2	+	4	523	c.220delA	c.(220-222)aafs	p.K74fs	NRK_ENST00000536164.1_Frame_Shift_Del_p.K74fs|NRK_ENST00000243300.9_Frame_Shift_Del_p.K74fs			Q7Z2Y5	NRK_HUMAN	Nik related kinase	74	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAGAGTGAATAAATATCAAAA	0.338										HNSCC(51;0.14)			2	4	---	---	---	---					
