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
POGK	57645	broad.mit.edu	37	1	166818806	166818806	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:166818806C>G	ENST00000367875.1	+	5	1350	c.990C>G	c.(988-990)caC>caG	p.H330Q	POGK_ENST00000367876.4_Missense_Mutation_p.H330Q|POGK_ENST00000536514.1_Missense_Mutation_p.H245Q|POGK_ENST00000537173.1_Missense_Mutation_p.H212Q			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	330					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TGCCCCAGCACCTGCCGGAAG	0.547000													35	118					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86304318	86304318	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:86304318G>C	ENST00000370571.2	-	43	3997	c.3631C>G	c.(3631-3633)Cca>Gca	p.P1211A	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1211A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1211	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCCCCCACTGGACCCTACAGA	0.408000													25	133					0	0	1	0	0
MIR1205	100302161	broad.mit.edu	37	8	128972938	128972938	+	RNA	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:128972938C>G	ENST00000408844.1	+	0	60					NR_031610.1																						GTTCTGGAGTCtgtctccatt	0.413000													5	52					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94910950	94910950	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:94910950C>T	ENST00000536441.1	-	8	1516	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.E255K	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	394					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCAACATCCTCATGGGTGGCC	0.388000													11	84					0	0	1	0	0
METTL12	751071	broad.mit.edu	37	11	62434192	62434192	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62434192C>T	ENST00000532971.1	+	3	649	c.392C>T	c.(391-393)cCt>cTt	p.P131L	METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	131						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						CCTCTATGCCCTGGACACCCT	0.597000													11	61					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199012	4199012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:4199012C>T	ENST00000296358.4	-	5	1573	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	517					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGCTCTCCTCCTGCTTCTCC	0.567000													8	80					0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46397494	46397494	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:46397494G>T	ENST00000454345.1	+	22	2693	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	DGKZ_ENST00000318201.8_Missense_Mutation_p.K645N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K446N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K684N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K634N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Missense_Mutation_p.K667N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K672N|DGKZ_ENST00000421244.2_Missense_Mutation_p.K668N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K668N	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	856					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGCAGCTCAAGGAGGCCTGTG	0.687000													3	16					0.004672	0.0047615	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123317468	123317468	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123317468A>G	ENST00000296513.2	+	7	845	c.660A>G	c.(658-660)ctA>ctG	p.L220L	ADAD1_ENST00000388724.2_Silent_p.L220L|ADAD1_ENST00000388725.2_Silent_p.L202L|ADAD1_ENST00000492454.1_3'UTR	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	220					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTAATCAACTAATTTCTAATC	0.284000													8	61					0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269267	28269267	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269267G>A	ENST00000405948.2	+	7	2056	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	PGBD1_ENST00000259883.3_Missense_Mutation_p.D546N	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	546					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTATTGCTTTGATAAGTCAAT	0.348000													17	144					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42171661	42171661	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:42171661G>C	ENST00000320955.6	-	16	3206	c.2979C>G	c.(2977-2979)gcC>gcG	p.A993A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	993					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCAGCTGCACGGCCTTCTCCC	0.632000													4	6					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100170804	100170804	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:100170804C>G	ENST00000409236.2	-	22	3640	c.3528G>C	c.(3526-3528)gaG>gaC	p.E1176D	AFF3_ENST00000356421.2_Missense_Mutation_p.E1201D|AFF3_ENST00000317233.4_Missense_Mutation_p.E1176D|AFF3_ENST00000409579.1_Missense_Mutation_p.E1201D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGTCGGCCATCTCCCAGTAGT	0.632000													10	190					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159782529	159782529	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:159782529T>C	ENST00000264433.6	+	11	1259	c.1184T>C	c.(1183-1185)aTa>aCa	p.I395T	FNIP2_ENST00000379346.3_Missense_Mutation_p.I418T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	395					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GTTCCAAGGATAGCTGAACCT	0.393000													3	38					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659330	196659330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:196659330G>A	ENST00000367429.4	+	9	1537	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	CFH_ENST00000439155.2_Missense_Mutation_p.E433K|CFH_ENST00000359637.2_Missense_Mutation_p.E369K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	433	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TACATGTATGGAGAATGGCTG	0.433000													5	112					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152278	43152278	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43152278C>T	ENST00000252050.4	+	2	314	c.230C>T	c.(229-231)cCt>cTt	p.P77L	CUL9_ENST00000354495.3_Missense_Mutation_p.P77L|CUL9_ENST00000372647.2_Missense_Mutation_p.P77L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	77					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCAACTGCCCTGGGCTGTTA	0.572000													6	91					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141161237	141161237	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141161237G>A	ENST00000514251.1	+	4	286	c.7G>A	c.(7-9)Gtc>Atc	p.V3I	ZBTB38_ENST00000321464.5_Missense_Mutation_p.V4I|ZBTB38_ENST00000441582.2_Missense_Mutation_p.V3I			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	3					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCAGATGACAGTCATGTCCCT	0.438000													19	121					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667521	122667521	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:122667521C>T	ENST00000195173.4	-	3	463	c.160G>A	c.(160-162)Gca>Aca	p.A54T	SEMA5B_ENST00000357599.3_Missense_Mutation_p.A54T|SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Missense_Mutation_p.A108T			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	54					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGCCCCTCTGCAGTCCTAGCT	0.612000													6	52					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151919766	151919766	+	Splice_Site	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:151919766A>G	ENST00000355193.2	-	21	3543	c.3325T>C	c.(3325-3327)Tgg>Cgg	p.W1109R	KMT2C_ENST00000262189.6_Splice_Site_p.W1109R					lysine (K)-specific methyltransferase 2C																		GCATGCATCCATCTAAAAAGA	0.348000													6	33					0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94845328	94845328	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:94845328A>T	ENST00000358746.2	-	29	3282	c.2984T>A	c.(2983-2985)cTg>cAg	p.L995Q	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	995							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCCTTTTTCAGTTGTAGATG	0.368000													6	49					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3187533	3187533	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:3187533C>A	ENST00000356443.4	-	5	1207	c.874G>T	c.(874-876)Gag>Tag	p.E292*	MYOM1_ENST00000261606.7_Nonsense_Mutation_p.E292*|MYOM1_ENST00000400569.3_Nonsense_Mutation_p.E292*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	292	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTTACATTCTCCTTCTCCCAA	0.433000													8	164					3.86212e-05	3.99737e-05	1	1	0
EPHB2	2048	broad.mit.edu	37	1	23233202	23233202	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:23233202G>C	ENST00000400191.3	+	11	1906		c.e11-1		EPHB2_ENST00000374632.3_Splice_Site|EPHB2_ENST00000374630.3_Splice_Site|EPHB2_ENST00000374627.1_Splice_Site	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2						axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTCTCTCAGGGGAGTTTGG	0.567000													7	48					0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15952254	15952254	+	Nonsense_Mutation	SNP	G	G	C	rs144480346	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:15952254G>C	ENST00000268712.3	-	41	6698	c.6441C>G	c.(6439-6441)taC>taG	p.Y2147*	NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Y731*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Y2044*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2147	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.Y2147*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATGGGCTCGTAGGGCTCCG	0.522000													18	102					0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28919983	28919983	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:28919983G>A	ENST00000358201.4	-	8	1780	c.1192C>T	c.(1192-1194)Cag>Tag	p.Q398*	RABEP2_ENST00000357573.6_Nonsense_Mutation_p.Q366*|RABEP2_ENST00000544477.1_Nonsense_Mutation_p.Q327*	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	398					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TGCGAGCCCTGGGGGGCTGAG	0.642000													19	191					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51217160	51217160	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:51217160C>A	ENST00000293441.1	-	5	705	c.687G>T	c.(685-687)gtG>gtT	p.V229V	SHANK1_ENST00000359082.3_Silent_p.V229V|SHANK1_ENST00000391814.1_Silent_p.V229V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	229					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGTTCGAATCACCTCTACAG	0.647000													4	62					0.0293803	0.0294912	1	1	0
THOP1	7064	broad.mit.edu	37	19	2810332	2810332	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:2810332G>A	ENST00000307741.6	+	10	1689	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	THOP1_ENST00000586677.1_Missense_Mutation_p.V375M|THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000395212.4_Missense_Mutation_p.V7M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	496					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CGGGACCCACGTGGAGCGGGA	0.692000													4	55					0	0	1	0	0
PLEKHA5	54477	broad.mit.edu	37	12	19427653	19427653	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:19427653T>A	ENST00000538714.1	+	10	1035	c.1031T>A	c.(1030-1032)gTa>gAa	p.V344E	PLEKHA5_ENST00000299275.6_Missense_Mutation_p.V344E|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.V344E|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.V102E|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.V344E|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.V236E|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.V344E|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.V350E|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.V236E|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.V344E	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	344							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATTAATAGTGTAAAGCTGAAT	0.383000													23	127					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835242	27835242	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:27835242C>G	ENST00000331442.3	-	1	117	c.66G>C	c.(64-66)aaG>aaC	p.K22N		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	22					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TAGTTGCCTTCTTCTTAGCCG	0.602000													3	53					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39159465	39159465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:39159465C>A	ENST00000359534.3	-	5	1039	c.701G>T	c.(700-702)gGg>gTg	p.G234V		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CCAGGCCAGCCCCAAGTAGAT	0.577000													22	180					1.10923e-09	1.19214e-09	1	1	0
ZBTB40	9923	broad.mit.edu	37	1	22816495	22816495	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:22816495C>T	ENST00000404138.1	+	3	565	c.54C>T	c.(52-54)tgC>tgT	p.C18C	ZBTB40_ENST00000375647.4_Silent_p.C18C|ZBTB40_ENST00000374651.4_Silent_p.C18C	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	18					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		ACACTCTGTGCAAGGAGCAGC	0.547000													13	126					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66208906	66208906	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:66208906G>C	ENST00000360689.5	+	11	3233	c.1506G>C	c.(1504-1506)caG>caC	p.Q502H	FUT8_ENST00000394585.1_Missense_Mutation_p.Q502H|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373H|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339H|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502H|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96H	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTGGGGGCCAGAATGCCCACA	0.433000													8	172					0	0	1	0	0
CSNK1A1	1452	broad.mit.edu	37	5	148929685	148929685	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:148929685G>T	ENST00000261798.5	-	2	615	c.183C>A	c.(181-183)agC>agA	p.S61R	CSNK1A1_ENST00000377843.2_Missense_Mutation_p.S61R|CSNK1A1_ENST00000515435.1_5'UTR|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S61R|CSNK1A1_ENST00000515748.2_Missense_Mutation_p.S61R|CSNK1A1_ENST00000504676.1_5'UTR	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	61	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TATAGAGCTTGCTCTCGTACA	0.542000													14	167					6.94344e-10	7.49272e-10	1	1	0
CHAF1B	8208	broad.mit.edu	37	21	37766929	37766929	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:37766929C>T	ENST00000314103.5	+	5	613	c.462C>T	c.(460-462)atC>atT	p.I154I	CHAF1B_ENST00000480486.1_3'UTR	NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						ACACAGCCATCATATGGGATG	0.363000													6	161					0	0	1	0	0
PHYKPL	85007	broad.mit.edu	37	5	177640080	177640080	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177640080C>G	ENST00000308158.5	-	11	1431	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	PHYKPL_ENST00000481811.1_5'UTR	NM_153373.2	NP_699204.1			5-phosphohydroxy-L-lysine phospho-lyase																		CATCAGTGCTCAGCAAAACGT	0.567000													7	101					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17942037	17942037	+	Splice_Site	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:17942037C>G	ENST00000458235.1	-	21	3077	c.2978G>C	c.(2977-2979)tGg>tCg	p.W993S	JAK3_ENST00000527670.1_Splice_Site_p.W993S|JAK3_ENST00000534444.1_Splice_Site_p.W993S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	993	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGTTCCCCACCAGAAAATGGG	0.662000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								10	74					0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438386	23438386	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23438386T>C	ENST00000248996.4	+	2	1170	c.504T>C	c.(502-504)taT>taC	p.Y168Y	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	168						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CAGCTGACTATATCCCCACTG	0.607000													11	90					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579271	82579271	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579271C>T	ENST00000333891.9	-	6	10970	c.10633G>A	c.(10633-10635)Gcc>Acc	p.A3545T	PCLO_ENST00000423517.2_Missense_Mutation_p.A3545T|PCLO_ENST00000437081.1_Missense_Mutation_p.A265T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTACCTTGGCATCCACTCGT	0.443000													8	57					0	0	1	0	0
RAB11A	8766	broad.mit.edu	37	15	66172008	66172008	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66172008G>A	ENST00000261890.2	+	4	558		c.e4-1		RAB11A_ENST00000569896.1_Splice_Site|RAB11A_ENST00000564910.1_Splice_Site|RAB11A_ENST00000435304.2_Intron|RAB11A_ENST00000565075.1_Intron	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family						cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						TCTCCCCTCAGAAAAGAATGG	0.338000													10	155					0	0	1	0	0
CPA2	1358	broad.mit.edu	37	7	129929559	129929559	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:129929559T>C	ENST00000222481.4	+	11	1287	c.1232T>C	c.(1231-1233)aTg>aCg	p.M411T		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	411					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AAGGCAATCATGGAGCATGTG	0.522000													29	124					0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525999	89525999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:89525999G>T	ENST00000370473.4	-	3	418	c.199C>A	c.(199-201)Ctg>Atg	p.L67M		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	67					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GTGGAGCCCAGAGAGAAGCCT	0.517000													14	112					1.99824e-07	2.11765e-07	1	1	0
ACCSL	390110	broad.mit.edu	37	11	44075044	44075044	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:44075044A>C	ENST00000378832.1	+	8	1093	c.1037A>C	c.(1036-1038)gAa>gCa	p.E346A		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	346							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AAATACCTGGAATTTGCCAAG	0.448000													8	63					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295535	101295535	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:101295535C>G	ENST00000538618.1	+	4	470	c.470C>G	c.(469-471)tCa>tGa	p.S157*	ANO4_ENST00000392979.3_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	0						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGGCATTCCTCACTCCCACCA	0.522000										HNSCC(74;0.22)			5	142					0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47746122	47746122	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:47746122C>G	ENST00000360380.3	-	13	2371	c.2008G>C	c.(2008-2010)Gat>Cat	p.D670H	STIL_ENST00000371877.3_Missense_Mutation_p.D670H|STIL_ENST00000396221.2_Missense_Mutation_p.D670H|STIL_ENST00000337817.5_Missense_Mutation_p.D670H|STIL_ENST00000243182.6_Missense_Mutation_p.D670H	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	670	PIN1-binding (By similarity).				cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGCCCATATCTCCCTGAGGT	0.473000													50	135					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51824706	51824706	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824706T>C	ENST00000371117.3	-	36	6145	c.5870A>G	c.(5869-5871)gAc>gGc	p.D1957G	PKHD1_ENST00000340994.4_Missense_Mutation_p.D1957G	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1957	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGTTAGTGTCCAGCAGAAG	0.453000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	210					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121454163	121454163	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:121454163G>A	ENST00000445832.3	-	1	127	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	C12orf43_ENST00000288757.3_Missense_Mutation_p.R39C|C12orf43_ENST00000536407.2_Missense_Mutation_p.R39C|C12orf43_ENST00000537817.1_Missense_Mutation_p.R9C|C12orf43_ENST00000539736.1_Missense_Mutation_p.R39C|C12orf43_ENST00000366211.2_De_novo_Start_InFrame			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	39										cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGTGCGGGCGTTGCTCCAAG	0.627000													10	50					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75784898	75784898	+	Translation_Start_Site	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:75784898T>C	ENST00000550916.1	+	1	49	c.2T>C	c.(1-3)aTg>aCg	p.M1T	GLIPR1L2_ENST00000547164.1_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000378689.2_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000435775.1_Start_Codon_SNP_p.M1T|GLIPR1L2_ENST00000378692.3_5'UTR|GLIPR1L2_ENST00000320460.4_Start_Codon_SNP_p.M1T	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	1						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						CGGTGGACCATGGAGGCCGCA	0.682000											OREG0021999	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	21					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26414194	26414194	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:26414194G>A	ENST00000380649.3	-	20	2346	c.2217C>T	c.(2215-2217)gcC>gcT	p.A739A		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	739					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GTTTTCCATAGGCAGCTTCAT	0.512000													6	66					0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91855114	91855114	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:91855114G>C	ENST00000394507.1	-	13	1957	c.1174C>G	c.(1174-1176)Cca>Gca	p.P392A	KRIT1_ENST00000394505.2_Missense_Mutation_p.P392A|KRIT1_ENST00000412043.2_Missense_Mutation_p.P392A|KRIT1_ENST00000340022.2_Missense_Mutation_p.P392A|KRIT1_ENST00000394503.2_Missense_Mutation_p.P344A	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	392					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTTAATGGAGATCTTCCT	0.348000													11	87					0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46760696	46760696	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:46760696C>G	ENST00000256689.5	-	7	958	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	SLC38A2_ENST00000547252.1_5'UTR	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	172					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAAGGCAACTCATATTTCACT	0.388000													3	92					0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45266717	45266717	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:45266717G>C	ENST00000372201.4	+	3	567	c.328G>C	c.(328-330)Gag>Cag	p.E110Q	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	110	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GATCCTAAATGAGATTGAGCT	0.587000													5	113					0	0	1	0	0
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:120875952C>T	ENST00000229379.2	+	1	60	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637000													6	32					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70182518	70182518	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:70182518G>A	ENST00000399180.2	-	15	2595	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	DNA2_ENST00000358410.3_Missense_Mutation_p.R780W|DNA2_ENST00000399179.2_Intron			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	780					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACAAATCTCCGTGAAAAAAAA	0.408000													8	22					0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846771	47846771	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:47846771G>C	ENST00000339488.4	-	3	1842	c.1809C>G	c.(1807-1809)atC>atG	p.I603M		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	603						integral to membrane	hedgehog receptor activity										GAGAAGCAATGATATTGCTTT	0.433000													6	53					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577749	16577749	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:16577749C>T	ENST00000375592.3	-	10	1786	c.1570G>A	c.(1570-1572)Ggg>Agg	p.G524R		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	524										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ATACTTCCCCCAACTGTCCTA	0.532000													9	134					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64575748	64575748	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64575748G>A	ENST00000242480.3	-	1	367	c.42C>T	c.(40-42)ctC>ctT	p.L14L	EGR2_ENST00000439032.1_Silent_p.L14L|EGR2_ENST00000411732.1_Intron|EGR2_ENST00000493899.2_Intron	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	14					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAAACCACTGAGAGTTACTG	0.572000													21	369					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291760	62291760	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62291760C>G	ENST00000378024.4	-	5	10403	c.10129G>C	c.(10129-10131)Gat>Cat	p.D3377H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3377					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTCAATATCTGGCTTTTTA	0.383000													8	95					0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	102100657	102100657	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:102100657C>T	ENST00000282441.5	+	9	1889	c.1501C>T	c.(1501-1503)Ctt>Ttt	p.L501F	YAP1_ENST00000531439.1_Missense_Mutation_p.L485F|YAP1_ENST00000345877.2_Missense_Mutation_p.L451F|YAP1_ENST00000528834.1_3'UTR|YAP1_ENST00000537274.1_Missense_Mutation_p.L489F|RP11-864G5.3_ENST00000526310.1_RNA|YAP1_ENST00000526343.1_Missense_Mutation_p.L447F|YAP1_ENST00000524575.1_Missense_Mutation_p.L323F	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	501	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		AGAAAGCTTTCTTACATGGTT	0.438000													19	118					0	0	1	0	0
C11orf80	79703	broad.mit.edu	37	11	66571581	66571581	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66571581C>A	ENST00000360962.4	+	9	965	c.958C>A	c.(958-960)Ctg>Atg	p.L320M	C11orf80_ENST00000532565.2_Missense_Mutation_p.L101M|C11orf80_ENST00000346672.4_Missense_Mutation_p.L166M|C11orf80_ENST00000540737.1_Missense_Mutation_p.L155M|C11orf80_ENST00000527634.1_Missense_Mutation_p.L102M|C11orf80_ENST00000525449.2_Missense_Mutation_p.L165M	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	165										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						GTTGGGAGAACTGATACTGAC	0.463000													41	156					1.59361e-14	1.74804e-14	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55319836	55319836	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:55319836G>C	ENST00000536015.1	-	25	3260	c.3141C>G	c.(3139-3141)ctC>ctG	p.L1047L	RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|ATP8B1_ENST00000283684.4_Silent_p.L1047L|RP11-35G9.3_ENST00000592201.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1047					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTATGAAGAAGAGGATCATCG	0.463000													5	89					0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224588738	224588738	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:224588738G>A	ENST00000414423.2	-	9	1526	c.1333C>T	c.(1333-1335)Cat>Tat	p.H445Y	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.H298Y	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	445						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		CTGTCTTCATGAGACTGGCTC	0.418000													9	55					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132552957	132552957	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132552957G>T	ENST00000265342.7	-	13	1821	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	524						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGACCACAAGGACTCTGCTCA	0.507000													19	102					2.79863e-10	3.03852e-10	1	1	0
SRP68	6730	broad.mit.edu	37	17	74066468	74066468	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:74066468T>C	ENST00000307877.2	-	2	403	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	SRP68_ENST00000355113.5_Intron|SRP68_ENST00000539137.1_Missense_Mutation_p.Q81R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	81					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CCTGTACCTCTGAAAATCTCC	0.373000													11	67					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40033522	40033522	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40033522C>A	ENST00000373233.3	-	37	8036	c.7859G>T	c.(7858-7860)gGa>gTa	p.G2620V	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2620					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAAATGAGTCCAGGAGATAC	0.512000													13	56					0.00010058	0.000103699	1	1	0
FIG4	9896	broad.mit.edu	37	6	110106228	110106228	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:110106228G>A	ENST00000230124.3	+	17	2069	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	FIG4_ENST00000441478.2_Missense_Mutation_p.E372K	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	649					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GCCCTATGATGAAGGTAGGTA	0.289000													18	183					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216245603	216245603	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:216245603A>G	ENST00000354785.4	-	33	5734	c.5365T>C	c.(5365-5367)Tac>Cac	p.Y1789H	FN1_ENST00000490833.1_5'UTR|FN1_ENST00000323926.6_Missense_Mutation_p.Y1789H|FN1_ENST00000336916.4_Missense_Mutation_p.Y1698H|FN1_ENST00000359671.1_Missense_Mutation_p.Y1698H|FN1_ENST00000432072.2_Intron|FN1_ENST00000346544.3_Missense_Mutation_p.Y1698H|FN1_ENST00000357009.2_Missense_Mutation_p.Y1698H|FN1_ENST00000421182.1_Intron|FN1_ENST00000345488.5_Missense_Mutation_p.Y1698H|FN1_ENST00000357867.4_Intron|FN1_ENST00000443816.1_Intron|FN1_ENST00000446046.1_Missense_Mutation_p.Y1698H|FN1_ENST00000356005.4_Intron			P02751	FINC_HUMAN	fibronectin 1	1788	Fibronectin type-III 13.|Heparin-binding 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGACTGTGTACTCAGAACCC	0.542000													22	127					0	0	1	0	0
DCAF7	10238	broad.mit.edu	37	17	61662585	61662585	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:61662585G>C	ENST00000310827.4	+	7	968	c.751G>C	c.(751-753)Gat>Cat	p.D251H	DCAF7_ENST00000431926.1_Intron|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.D51H	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	251					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GGTGATTCTAGATGTCCGGGT	0.443000													7	139					0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172990	94172990	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:94172990G>A	ENST00000297689.3	-	2	421	c.27C>T	c.(25-27)gtC>gtT	p.V9V		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	9					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCTCCTTTTTGACGGTCTGCA	0.423000													5	105					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1807559	1807559	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:1807559C>T	ENST00000340107.4	+	13	1990	c.1734C>T	c.(1732-1734)gaC>gaT	p.D578D	FGFR3_ENST00000481110.2_Silent_p.D577D|FGFR3_ENST00000412135.2_Silent_p.D464D|FGFR3_ENST00000260795.2_Silent_p.D576D|FGFR3_ENST00000352904.1_Silent_p.D464D|FGFR3_ENST00000440486.2_Silent_p.D576D	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	576	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	cgggccTGGACTACTCCTTCG	0.682000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				35	159					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48687965	48687965	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48687965G>T	ENST00000544264.1	-	16	6700	c.6420C>A	c.(6418-6420)ccC>ccA	p.P2140P	CELSR3_ENST00000164024.4_Silent_p.P2140P			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2140					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACTTTGTCTGGGGCCACCACA	0.617000													5	51					5.9392e-07	6.25674e-07	1	1	0
AFF4	27125	broad.mit.edu	37	5	132228738	132228738	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:132228738G>C	ENST00000265343.5	-	12	2759	c.2380C>G	c.(2380-2382)Cca>Gca	p.P794A	AFF4_ENST00000378595.3_Missense_Mutation_p.P794A	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	794					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGCTGGATGGCTTATGGCCT	0.423000													65	402					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102904529	102904529	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:102904529A>G	ENST00000359520.7	+	10	2791	c.2565A>G	c.(2563-2565)gcA>gcG	p.A855A	TECPR2_ENST00000558678.1_Silent_p.A855A	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	855							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						AGCAGGTGGCAGTCTCGCCCT	0.672000											OREG0022547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	54					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337170	136337170	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136337170G>A	ENST00000371899.4	-	10	1574	c.1497C>T	c.(1495-1497)cgC>cgT	p.R499R	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.R437R	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	499						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TTCTCCCCGTGCGGAAGAAGG	0.627000													13	63					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66440574	66440574	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:66440574C>A	ENST00000404260.3	+	22	3125	c.2817C>A	c.(2815-2817)acC>acA	p.T939T	MAST4_ENST00000403666.1_Silent_p.T747T|MAST4_ENST00000261569.7_Silent_p.T742T|MAST4_ENST00000405643.1_Silent_p.T757T|MAST4_ENST00000403625.2_Silent_p.T936T			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	939						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCAAAAGCACCACCTTGCCAT	0.413000													4	26					0.00909568	0.00923455	1	1	0
ZC3H14	79882	broad.mit.edu	37	14	89044449	89044449	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:89044449A>G	ENST00000251038.5	+	9	1469	c.1244A>G	c.(1243-1245)gAg>gGg	p.E415G	ZC3H14_ENST00000336693.4_Missense_Mutation_p.E381G|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E415G|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E260G|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E381G|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E415G|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E415G|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E415G	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	415						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTAAAGAAGAGGAAACAAAA	0.388000													6	107					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140100321	140100321	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:140100321G>T	ENST00000371521.4	+	1	175	c.92G>T	c.(91-93)cGg>cTg	p.R31L	NDOR1_ENST00000427047.2_Missense_Mutation_p.R31L|NDOR1_ENST00000458322.2_Missense_Mutation_p.R31L|NDOR1_ENST00000344894.5_Missense_Mutation_p.R31L	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	31	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCCGGCGCCGGCGGCTTGGC	0.736000													3	34					0.014758	0.014898	1	1	0
TTLL1	25809	broad.mit.edu	37	22	43459894	43459894	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:43459894C>T	ENST00000331018.7	-	7	912	c.672G>A	c.(670-672)gtG>gtA	p.V224V	TTLL1_ENST00000266254.7_Silent_p.V224V			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	224	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		GGGTGTATTTCACTGTGCAGA	0.458000													6	159					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156866286	156866286	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:156866286T>A	ENST00000295926.3	-	11	1443	c.1325A>T	c.(1324-1326)aAt>aTt	p.N442I	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	442					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			AGAACCATGATTATGATGTCT	0.423000													21	124					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835472	247835472	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:247835472T>A	ENST00000359688.2	-	1	893	c.872A>T	c.(871-873)aAt>aTt	p.N291I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATCTCCCTATTCTGGAAGCT	0.448000													6	152					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108122629	108122629	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108122629G>T	ENST00000278616.4	+	11	2058	c.1673G>T	c.(1672-1674)gGa>gTa	p.G558V	ATM_ENST00000452508.2_Missense_Mutation_p.G558V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	558					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTAAAAATGGGAATAGAGCAA	0.353000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			16	87					1.45105e-14	1.59826e-14	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152060608	152060608	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152060608G>C	ENST00000368806.1	-	2	76	c.12C>G	c.(10-12)ctC>ctG	p.L4L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	4							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CATTTCTCAGGAGCTGAGGCA	0.458000													7	105					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48725087	48725087	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48725087T>C	ENST00000316623.5	-	55	7170	c.6715A>G	c.(6715-6717)Aga>Gga	p.R2239G		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2239	EGF-like 38; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGTCTTCTCTGAGCACATAT	0.468000													30	171					0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744204	31744204	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:31744204G>T	ENST00000399889.2	-	1	353	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	110						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CCATAGCCCAGGGAGCGGCAG	0.597000													7	60					1.12685e-05	1.17777e-05	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296403	28296403	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:28296403G>A	ENST00000284987.5	-	8	2883	c.2762C>T	c.(2761-2763)gCg>gTg	p.A921V	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	921	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTGCTTAAACGCAGAAGGCCT	0.483000													10	68					0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45430459	45430459	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:45430459C>T	ENST00000544540.1	+	4	835	c.351C>T	c.(349-351)ctC>ctT	p.L117L	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	235						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TCCCCTCCCTCGCCGAAGGTC	0.602000													9	176					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107706844	107706844	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:107706844C>A	ENST00000388781.3	-	20	2731	c.2648G>T	c.(2647-2649)gGa>gTa	p.G883V	LAMB4_ENST00000205386.4_Missense_Mutation_p.G883V|LAMB4_ENST00000388780.3_Missense_Mutation_p.G883V	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	883	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGTAAAGCCTCCACAATTGAA	0.428000													7	49					1.12685e-05	1.17777e-05	1	1	0
SZT2	23334	broad.mit.edu	37	1	43882281	43882281	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:43882281G>C	ENST00000562955.1	+	7	848	c.848G>C	c.(847-849)cGc>cCc	p.R283P		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	283						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AACCAGCTTCGCAGTGGCACT	0.493000													3	62					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83788412	83788412	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:83788412G>C	ENST00000432794.1	-	9	1103	c.940C>G	c.(940-942)Cga>Gga	p.R314G	SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000355196.2_Missense_Mutation_p.R314G|SEC31A_ENST00000448323.1_Missense_Mutation_p.R314G|SEC31A_ENST00000513858.1_Missense_Mutation_p.R314G|SEC31A_ENST00000264405.5_Missense_Mutation_p.R86G|SEC31A_ENST00000500777.2_Missense_Mutation_p.R314G|SEC31A_ENST00000311785.7_Missense_Mutation_p.R314G|SEC31A_ENST00000508502.1_Missense_Mutation_p.R314G|SEC31A_ENST00000326950.5_Missense_Mutation_p.R314G|SEC31A_ENST00000508479.1_Missense_Mutation_p.R314G|SEC31A_ENST00000505472.1_Missense_Mutation_p.R314G|SEC31A_ENST00000509142.1_Missense_Mutation_p.R314G|SEC31A_ENST00000505984.1_Missense_Mutation_p.R314G|SEC31A_ENST00000348405.4_Missense_Mutation_p.R314G|SEC31A_ENST00000395310.2_Missense_Mutation_p.R314G|SEC31A_ENST00000443462.2_Missense_Mutation_p.R309G			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	314	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GCAGGATTTCGGGGACACCAC	0.418000													4	83					0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383288	78383288	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:78383288A>G	ENST00000334785.7	+	3	249	c.65A>G	c.(64-66)tAt>tGt	p.Y22C	NEXN_ENST00000457030.1_Missense_Mutation_p.Y22C|NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Missense_Mutation_p.Y22C	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	22					regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CCAAAAACCTATGTACCAAAA	0.348000													10	51					0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28858795	28858795	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:28858795C>A	ENST00000357727.2	+	11	1816	c.1426C>A	c.(1426-1428)Cat>Aat	p.H476N	CREB5_ENST00000396298.2_Missense_Mutation_p.H337N|CREB5_ENST00000409603.1_Missense_Mutation_p.H443N|CREB5_ENST00000396300.2_Missense_Mutation_p.H469N|CREB5_ENST00000396299.2_Missense_Mutation_p.H443N	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	476					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						AGTCATCCAGCATAATACCAT	0.502000													60	247					9.64103e-21	1.08207e-20	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73651764	73651764	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:73651764T>A	ENST00000264448.6	+	5	1082	c.971T>A	c.(970-972)aTt>aAt	p.I324N	ALMS1_ENST00000409009.1_Missense_Mutation_p.I282N|ALMS1_ENST00000377715.1_Missense_Mutation_p.I324N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	324					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGAGACTATTTCGTCTGTT	0.418000													9	43					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38861352	38861352	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38861352A>T	ENST00000409235.3	+	29	3515	c.3400A>T	c.(3400-3402)Atg>Ttg	p.M1134L	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.M1094L	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1134					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACATTCCAGGATGGGCTCCAT	0.552000													15	124					0	0	1	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73954265	73954265	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:73954265G>C	ENST00000476977.1	+	14	3276	c.1585G>C	c.(1585-1587)Gag>Cag	p.E529Q	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E529Q|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E529Q|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E561Q			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	529						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCTGCCATCGGAGGATTCTGG	0.552000													3	132					0	0	1	0	0
ZNF726	730087	broad.mit.edu	37	19	24102183	24102183	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:24102183G>A	ENST00000594466.1	+	2	117	c.12G>A	c.(10-12)ttG>ttA	p.L4L	ZNF726_ENST00000575986.1_Silent_p.L4L|ZNF726_ENST00000334589.5_Silent_p.L4L|CTB-92J24.3_ENST00000596326.1_RNA|ZNF726_ENST00000531821.2_Silent_p.L4L|ZNF726_ENST00000525354.2_Silent_p.L4L|ZNF726_ENST00000322487.7_Silent_p.L4L	NM_001244038.1	NP_001230967.1	E9PLI7	E9PLI7_HUMAN	zinc finger protein 726	4					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding										AGGGACTGTTGACATTTAGGG	0.388000													21	165					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72622632	72622632	+	Splice_Site	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:72622632C>T	ENST00000273951.8	-	8	1175		c.e8-1		GC_ENST00000504199.1_Splice_Site|GC_ENST00000503472.1_Splice_Site|GC_ENST00000513476.1_Splice_Site	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)						hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTTCAGGCAGCTACAAAACGA	0.338000													54	84					0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68040602	68040602	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040602C>G	ENST00000329153.5	+	13	2056	c.1924C>G	c.(1924-1926)Cag>Gag	p.Q642E		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	642	PH 1.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ACAGACGTTTCAGGTGAGCAC	0.488000													7	93					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074169	20074169	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:20074169A>G	ENST00000351989.3	+	2	1112	c.683A>G	c.(682-684)gAc>gGc	p.D228G	DGCR8_ENST00000407755.1_Missense_Mutation_p.D228G|DGCR8_ENST00000383024.2_Missense_Mutation_p.D228G	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	228	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GTTCAGAGAGACAGAGTGGAT	0.478000													39	261					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71651790	71651790	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:71651790A>G	ENST00000409544.1	+	23	5165	c.4535A>G	c.(4534-4536)gAg>gGg	p.E1512G	ZNF638_ENST00000409407.1_Missense_Mutation_p.E452G|ZNF638_ENST00000355812.3_Missense_Mutation_p.S1104G|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1512G	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1512					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACTTTGGCTGAGCAAAACACT	0.299000													9	57					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76397778	76397778	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:76397778A>G	ENST00000357063.3	+	16	4134	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A	LMO7_ENST00000341547.4_Silent_p.A624A|LMO7_ENST00000526202.1_Silent_p.A523A|LMO7_ENST00000377534.3_Silent_p.A958A|LMO7_ENST00000465261.2_Silent_p.A673A|LMO7_ENST00000321797.8_Silent_p.A673A			Q8WWI1	LMO7_HUMAN	LIM domain 7	958						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCACCCCTGCACCAAGCCCGG	0.453000													23	87					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50957813	50957813	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:50957813T>A	ENST00000374103.4	-	8	1031	c.946A>T	c.(946-948)Atc>Ttc	p.I316F	OGDHL_ENST00000419399.1_Missense_Mutation_p.I259F|OGDHL_ENST00000432695.1_Missense_Mutation_p.I107F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	316					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGGCAGAAGATCTGCTCCAGG	0.662000													4	26					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88953752	88953752	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:88953752T>G	ENST00000375961.2	-	9	1535	c.1321A>C	c.(1321-1323)Agg>Cgg	p.R441R	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375963.3_Silent_p.R441R|ZCCHC6_ENST00000375948.1_Silent_p.R79R			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	441					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GCCCAGTACCTAAATGCAATC	0.368000													4	108					0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284405	19284405	+	Silent	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:19284405C>A	ENST00000308406.5	+	4	1269	c.883C>A	c.(883-885)Cgg>Agg	p.R295R	MAPK7_ENST00000395602.4_Silent_p.R295R|MAPK7_ENST00000299612.7_Silent_p.R156R|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Silent_p.R295R	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	295	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TGAGAGGGTGCGGGCCTATAT	0.607000													8	68					4.68919e-08	4.97934e-08	1	1	0
RAB36	9609	broad.mit.edu	37	22	23500179	23500179	+	Splice_Site	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:23500179T>A	ENST00000263116.2	+	7	633	c.593T>A	c.(592-594)gTg>gAg	p.V198E	RAB36_ENST00000341989.4_Splice_Site_p.V176E	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	198					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GGGTGTCTAGTGATCATCACG	0.622000													28	249					0	0	1	0	0
RCBTB2	1102	broad.mit.edu	37	13	49064303	49064303	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:49064303C>T	ENST00000344532.3	-	15	2023	c.1600G>A	c.(1600-1602)Gat>Aat	p.D534N	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D260N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D539N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	534							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTCAGGAGATCATGGTCCATT	0.398000													7	106					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72667281	72667281	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:72667281C>G	ENST00000261180.4	+	1	819	c.723C>G	c.(721-723)atC>atG	p.I241M	TRHDE-AS1_ENST00000426250.3_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	241					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACGCGCTCATCGAGAATGAGC	0.587000													20	101					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85459088	85459088	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:85459088C>T	ENST00000393217.2	+	9	2501	c.2440C>T	c.(2440-2442)Ctg>Ttg	p.L814L		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	814										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TCTCTCCACACTGGCAGAGTG	0.383000													22	114					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228822	57228822	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:57228822C>T	ENST00000396721.2	-	2	215	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	SDR16C5_ENST00000303749.3_Missense_Mutation_p.A29T|SDR16C5_ENST00000522671.1_Missense_Mutation_p.A29T			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	29					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGGAGTAAGGCAAAAATCATA	0.458000													19	65					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870572	21870572	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870572C>G	ENST00000399982.2	-	18	3869	c.3805G>C	c.(3805-3807)Gat>Cat	p.D1269H	CHD8_ENST00000557364.1_Missense_Mutation_p.D1269H|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.D990H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1269	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGGCCTTATCAAACATCTCT	0.483000													6	116					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37311474	37311474	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:37311474A>T	ENST00000310758.4	-	5	853	c.206T>A	c.(205-207)aTa>aAa	p.I69K	ELMO1_ENST00000442504.1_Missense_Mutation_p.I69K|ELMO1_ENST00000448602.1_Missense_Mutation_p.I69K	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	69					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCCATTTTTTATCTCATTGCG	0.353000													6	107					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51308411	51308411	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51308411G>T	ENST00000266037.9	+	24	2544	c.2521G>T	c.(2521-2523)Gtg>Ttg	p.V841L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	841						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGCCAGGACAGTGGATAGCCG	0.547000													22	196					6.12954e-19	6.83629e-19	1	1	0
IL1B	3553	broad.mit.edu	37	2	113590327	113590327	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:113590327G>C	ENST00000263341.2	-	5	588	c.378C>G	c.(376-378)ctC>ctG	p.L126L	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	126					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GTGAGTCCCGGAGCGTGCAGT	0.478000													14	157					0	0	1	0	0
MYD88	4615	broad.mit.edu	37	3	38180222	38180222	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:38180222G>A	ENST00000417037.2	+	1	254	c.70G>A	c.(70-72)Gcg>Acg	p.A24T	MYD88_ENST00000443433.2_Missense_Mutation_p.A24T|MYD88_ENST00000396334.3_Missense_Mutation_p.A24T|MYD88_ENST00000424893.1_Missense_Mutation_p.A24T|MYD88_ENST00000495303.1_Missense_Mutation_p.A24T	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	11					3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CGCGGGGTCTGCGGCCCCGGT	0.687000			Mis		ABC-DLBCL								9	43					0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53217515	53217515	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:53217515T>C	ENST00000394729.2	+	8	1033	c.705T>C	c.(703-705)gtT>gtC	p.V235V	PRKCD_ENST00000330452.3_Silent_p.V235V	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	235					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCTTCAAGGTTCACAACTACA	0.592000													19	121					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651605	84651605	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651605G>A	ENST00000286744.5	+	21	3449	c.3225G>A	c.(3223-3225)ttG>ttA	p.L1075L	ADAMTSL3_ENST00000567476.1_Silent_p.L1075L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1075						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGGGAGTTGAAGAATAAGC	0.443000													6	72					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60904247	60904247	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:60904247C>T	ENST00000252999.3	-	33	4248	c.4182G>A	c.(4180-4182)ctG>ctA	p.L1394L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1394	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGATTTATCCAGGGGCTCCT	0.637000													21	120					0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45891068	45891068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:45891068G>A	ENST00000007414.3	-	15	1675	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	OSBPL7_ENST00000392507.3_Missense_Mutation_p.S495L	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	495					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CACAGGCATTGACACCTTGGA	0.662000													7	83					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242035577	242035577	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242035577C>G	ENST00000391980.2	-	4	1040	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Intron|MTERFD2_ENST00000406593.1_Missense_Mutation_p.E140Q	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	328										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GTGCTGCTCTCAGACTCCTCC	0.483000													6	55					0	0	1	0	0
TMUB1	83590	broad.mit.edu	37	7	150779465	150779465	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:150779465C>A	ENST00000392818.3	-	2	543	c.186G>T	c.(184-186)atG>atT	p.M62I	TMUB1_ENST00000462940.1_Missense_Mutation_p.M62I|TMUB1_ENST00000476627.1_Missense_Mutation_p.M62I|TMUB1_ENST00000482202.1_Missense_Mutation_p.M62I|TMUB1_ENST00000297533.4_Missense_Mutation_p.M62I	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	62						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTCCCCTCTCATGCTGTCGG	0.687000													20	134					3.7963e-18	4.21635e-18	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44700861	44700861	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44700861T>C	ENST00000396056.2	+	4	1241	c.1006T>C	c.(1006-1008)Tgt>Cgt	p.C336R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000542250.1_Missense_Mutation_p.C176R|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	336					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ATGCTATGAATGTAATGAATG	0.428000													6	60					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40917631	40917631	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:40917631C>T	ENST00000346991.5	+	11	5637	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	CASC5_ENST00000399668.2_Silent_p.I1723I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1749					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTGATGAGATCAATTCTTCAG	0.343000													15	114					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				30	121					0	0	1	0	0
FMO5	2330	broad.mit.edu	37	1	146658516	146658516	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:146658516G>A	ENST00000254090.4	-	9	1953	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	FMO5_ENST00000369272.3_3'UTR|FMO5_ENST00000441068.2_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	522						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAAGGCAAGAGCTAGCATAAA	0.403000													9	76					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18289692	18289692	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:18289692C>T	ENST00000377369.2	+	11	1970	c.1697C>T	c.(1696-1698)tCa>tTa	p.S566L	SLC39A12_ENST00000377374.4_Missense_Mutation_p.S529L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S432L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S565L	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	566	Poly-Ser.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TTCTCATCATCATCCGAGTCA	0.443000													5	75					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72860379	72860379	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:72860379G>A	ENST00000455107.2	-	10	1177	c.761C>T	c.(760-762)tCg>tTg	p.S254L	FDXR_ENST00000420580.2_Missense_Mutation_p.S258L|FDXR_ENST00000581530.1_Missense_Mutation_p.S304L|FDXR_ENST00000413947.2_Missense_Mutation_p.S329L|FDXR_ENST00000293195.5_Missense_Mutation_p.S298L|FDXR_ENST00000583917.1_Missense_Mutation_p.S270L|FDXR_ENST00000582944.1_Missense_Mutation_p.S290L|FDXR_ENST00000544854.1_Missense_Mutation_p.S246L|FDXR_ENST00000442102.2_Missense_Mutation_p.S341L			P22570	ADRO_HUMAN	ferredoxin reductase	298					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					ACGGGAGGCCGATGCCTGGCG	0.692000													10	46					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273127	162273127	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:162273127C>T	ENST00000389554.3	+	1	523	c.206C>T	c.(205-207)cCt>cTt	p.P69L		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	69						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GACAATTTTCCTGACTCCAAG	0.488000													11	72					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185970927	185970927	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:185970927G>A	ENST00000265022.3	-	18	2094	c.1555C>T	c.(1555-1557)Ctt>Ttt	p.L519F	DGKG_ENST00000382164.4_Missense_Mutation_p.L480F|DGKG_ENST00000344484.4_Missense_Mutation_p.L494F|DGKG_ENST00000544847.1_Missense_Mutation_p.L460F	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	519	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CCTGTTCCAAGAGGCAGGACA	0.512000													15	126					0	0	1	0	0
TMEM5	10329	broad.mit.edu	37	12	64195998	64195998	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:64195998A>C	ENST00000261234.6	+	4	714	c.556A>C	c.(556-558)Aat>Cat	p.N186H	TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	186						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTATGCACAAAATTTAGTGCA	0.363000													4	62					0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56674101	56674101	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:56674101G>A	ENST00000431842.2	-	9	2413	c.1489C>T	c.(1489-1491)Ccc>Tcc	p.P497S	FAM208A_ENST00000493960.2_Missense_Mutation_p.P893S|FAM208A_ENST00000355628.5_Missense_Mutation_p.P893S	NM_015224.3	NP_056039.2	Q9UK61	CC063_HUMAN	family with sequence similarity 208, member A	893										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TGTTCAATGGGAACACTGGGA	0.323000													4	41					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128586051	128586051	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:128586051G>C	ENST00000402030.2	+	3	420	c.348G>C	c.(346-348)aaG>aaC	p.K116N	IRF5_ENST00000249375.4_Missense_Mutation_p.K116N|IRF5_ENST00000477535.1_Missense_Mutation_p.K116N|IRF5_ENST00000357234.5_Missense_Mutation_p.K116N|IRF5_ENST00000473745.1_Missense_Mutation_p.K116N	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	116					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AGCCCTACAAGATCTACGAGG	0.637000													6	71					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158301205	158301205	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:158301205C>T	ENST00000368168.3	-	1	116	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	3					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GAAATGGCAGCAGCAGCATTT	0.473000													3	37					0	0	1	0	0
RAPGEFL1	51195	broad.mit.edu	37	17	38346912	38346912	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:38346912C>T	ENST00000436615.3	+	8	1105	c.615C>T	c.(613-615)atC>atT	p.I205I	RAPGEFL1_ENST00000544503.1_Silent_p.I254I|RAPGEFL1_ENST00000540388.1_3'UTR|RAPGEFL1_ENST00000456989.2_Silent_p.I260I|RAPGEFL1_ENST00000264644.6_Silent_p.I205I	NM_016339.3	NP_057423.1	Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	411					G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCGAGGAGATCCAGGTCTCCC	0.637000													40	146					0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95926706	95926706	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:95926706C>T	ENST00000258499.3	-	2	1615	c.1327G>A	c.(1327-1329)Ggt>Agt	p.G443S	USP44_ENST00000393091.2_Missense_Mutation_p.G443S|USP44_ENST00000537435.2_Missense_Mutation_p.G443S|USP44_ENST00000552440.1_Missense_Mutation_p.G443S	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	443					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AAACTGGTACCAGTTGTCTCT	0.388000													10	54					0	0	1	0	0
MIB1	57534	broad.mit.edu	37	18	19321721	19321721	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:19321721C>T	ENST00000261537.6	+	1	441	c.177C>T	c.(175-177)aaC>aaT	p.N59N	MIB1_ENST00000578646.1_Intron	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	59	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CAGCTGCCAACTACCGCTGCT	0.721000													6	35					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119256626	119256626	+	Splice_Site	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:119256626A>G	ENST00000296498.3	-	3	1103		c.e3+1			NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)							membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCTTTTTTTTACCATGGGAAA	0.363000													4	75					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45867571	45867571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:45867571G>T	ENST00000391945.4	-	9	814	c.737C>A	c.(736-738)tCc>tAc	p.S246Y	ERCC2_ENST00000391940.4_Missense_Mutation_p.S222Y|ERCC2_ENST00000391944.3_Missense_Mutation_p.S168Y|ERCC2_ENST00000221481.6_Missense_Mutation_p.P127T|ERCC2_ENST00000485403.2_Missense_Mutation_p.S222Y	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	246	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCTCATGGAGTCGATGCA	0.682000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				8	76					3.09899e-07	3.27115e-07	1	1	0
CDK14	5218	broad.mit.edu	37	7	90528655	90528655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90528655C>T	ENST00000406263.1	+	6	993	c.551C>T	c.(550-552)cCa>cTa	p.P184L	CDK14_ENST00000436577.2_Missense_Mutation_p.P101L|CDK14_ENST00000265741.3_Missense_Mutation_p.P212L|CDK14_ENST00000380050.3_Missense_Mutation_p.P230L			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	230	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GGGCTGCATCCAGATAATGTG	0.363000													12	50					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129150054	129150054	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:129150054G>T	ENST00000540052.1	+	3	3350	c.3306G>T	c.(3304-3306)aaG>aaT	p.K1102N	BCORL1_ENST00000303743.5_Missense_Mutation_p.K1102N|BCORL1_ENST00000359304.2_Missense_Mutation_p.K1102N|BCORL1_ENST00000218147.7_Missense_Mutation_p.K1102N	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1102					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTGCTTGCAAGAACAAGTGGC	0.577000													21	58					7.76418e-22	8.73266e-22	1	1	0
DDX58	23586	broad.mit.edu	37	9	32466325	32466325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:32466325C>T	ENST00000379882.1	-	15	2322	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	DDX58_ENST00000379883.2_Missense_Mutation_p.R767H|DDX58_ENST00000542096.1_Missense_Mutation_p.R696H|DDX58_ENST00000379868.1_Missense_Mutation_p.R564H			O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	767	Helicase C-terminal.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGTCTGAAGGCGTAAAATAGA	0.373000													5	187					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86702233	86702233	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:86702233C>A	ENST00000441037.2	+	4	421	c.326C>A	c.(325-327)aCc>aAc	p.T109N	AGBL1_ENST00000421325.2_Missense_Mutation_p.T109N	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	109					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ACTCCTTACACCCGAAAGCGC	0.438000													18	117					5.61819e-17	6.21388e-17	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28269301	28269301	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:28269301A>G	ENST00000405948.2	+	7	2090	c.1670A>G	c.(1669-1671)cAa>cGa	p.Q557R	PGBD1_ENST00000259883.3_Missense_Mutation_p.Q557R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	557					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GATAGTGACCAATTCCTGAAT	0.363000													14	116					0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49050370	49050370	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:49050370C>T	ENST00000395474.3	+	2	1773	c.1493C>T	c.(1492-1494)tCa>tTa	p.S498L	WDR6_ENST00000448293.1_Missense_Mutation_p.S417L|WDR6_ENST00000608424.1_Missense_Mutation_p.S468L|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	468					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTAGAGATCTCAGCCGCACCC	0.607000													4	59					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226053628	226053628	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:226053628C>T	ENST00000366835.3	-	10	985	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	TMEM63A_ENST00000537914.1_5'UTR|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	239						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCCTTCCTGGCATCTCTGGGG	0.627000													14	36					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36214059	36214059	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:36214059G>A	ENST00000420124.1	+	6	2885	c.2885G>A	c.(2884-2886)cGc>cAc	p.R962H	KMT2B_ENST00000222270.7_Missense_Mutation_p.R962H|KMT2B_ENST00000607650.1_RNA					lysine (K)-specific methyltransferase 2B																		AAGAAGATGCGCATGGCTCGA	0.637000													7	69					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36445999	36445999	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:36445999G>T	ENST00000265748.2	+	4	918	c.697G>T	c.(697-699)Gct>Tct	p.A233S	ANLN_ENST00000396068.2_Missense_Mutation_p.A233S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	233	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCCTGGTACCGCTTGTTTATC	0.458000													17	67					4.7546e-09	5.07922e-09	1	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995840	57995840	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:57995840G>T	ENST00000316770.2	-	1	550	c.508C>A	c.(508-510)Ctg>Atg	p.L170M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CAAAAGGGCAGGGTGAAGATT	0.652000													5	48					0.000602214	0.000617299	1	1	0
MACF1	23499	broad.mit.edu	37	1	39801743	39801743	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:39801743A>G	ENST00000564288.1	+	37	10260	c.9483A>G	c.(9481-9483)caA>caG	p.Q3161Q	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.Q3198Q|MACF1_ENST00000372915.3_Silent_p.Q3166Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Silent_p.Q1601Q|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3166					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAAACATCAAATTTCCTCAT	0.373000													20	102					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66426177	66426177	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:66426177T>A	ENST00000404260.3	+	15	2202	c.1894T>A	c.(1894-1896)Ttt>Att	p.F632I	MAST4_ENST00000403666.1_Missense_Mutation_p.F440I|MAST4_ENST00000261569.7_Missense_Mutation_p.F435I|MAST4_ENST00000405643.1_Missense_Mutation_p.F450I|MAST4_ENST00000403625.2_Missense_Mutation_p.F629I			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	632	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGAAAACCCCTTTGTTGTCAG	0.453000													5	123					0	0	1	0	0
TMEM61	199964	broad.mit.edu	37	1	55457707	55457707	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:55457707T>C	ENST00000371268.3	+	3	838	c.564T>C	c.(562-564)tcT>tcC	p.S188S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	188						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						ATGCCGTTTCTGCGGAGACGA	0.612000													93	209					0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154709870	154709870	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:154709870A>T	ENST00000274063.4	-	1	402	c.118T>A	c.(118-120)Tgc>Agc	p.C40S		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	40	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ATGGGCTTGCAATTGCTGCGC	0.637000													8	108					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178552080	178552080	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:178552080G>T	ENST00000251582.7	-	19	2953	c.2852C>A	c.(2851-2853)aCc>aAc	p.T951N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	951	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACGGAGCGGGTGGTGTTGTC	0.697000													38	220					4.06502e-11	4.42248e-11	1	1	0
HPS3	84343	broad.mit.edu	37	3	148872982	148872982	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:148872982G>A	ENST00000296051.2	+	8	1629	c.1489G>A	c.(1489-1491)Gtg>Atg	p.V497M	HPS3_ENST00000460120.1_Missense_Mutation_p.V332M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	497						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GATCTCACCAGTGCAGCTGTA	0.333000									Hermansky-Pudlak syndrome				14	84					0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573654	64573654	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:64573654G>C	ENST00000242480.3	-	2	1069	c.744C>G	c.(742-744)ccC>ccG	p.P248P	EGR2_ENST00000439032.1_Silent_p.P248P|EGR2_ENST00000411732.1_Silent_p.P198P	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	248					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGCAGGGAAAGGGCTTACGGT	0.597000													16	95					0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125547901	125547901	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:125547901G>A	ENST00000533904.1	-	2	686	c.344C>T	c.(343-345)tCa>tTa	p.S115L	ACRV1_ENST00000527795.1_Missense_Mutation_p.S45L|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000315608.3_Missense_Mutation_p.S115L|ACRV1_ENST00000345274.1_Missense_Mutation_p.S45L|ACRV1_ENST00000348856.3_Missense_Mutation_p.S60L|ACRV1_ENST00000453509.1_Missense_Mutation_p.S45L|ACRV1_ENST00000530048.1_Missense_Mutation_p.S60L|ACRV1_ENST00000445562.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	115	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTGTTCTCCTGAAGGCTGCTC	0.527000													11	160					0	0	1	0	0
SOAT1	6646	broad.mit.edu	37	1	179320559	179320559	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:179320559C>G	ENST00000367619.3	+	15	1701	c.1558C>G	c.(1558-1560)Caa>Gaa	p.Q520E	SOAT1_ENST00000540564.1_Missense_Mutation_p.Q462E|SOAT1_ENST00000539888.1_Missense_Mutation_p.Q455E|SOAT1_ENST00000535686.1_Missense_Mutation_p.Q256E	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	520					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	CTTTTATTCTCAAGAATGGTA	0.418000													10	249					0	0	1	0	0
SLC35B1	10237	broad.mit.edu	37	17	47784399	47784399	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:47784399G>T	ENST00000240333.6	-	2	257	c.136C>A	c.(136-138)Cag>Aag	p.Q46K	SLC35B1_ENST00000415270.2_Missense_Mutation_p.Q83K			P78383	S35B1_HUMAN	solute carrier family 35, member B1	46						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AACGTCTCCTGCTTGGCTCCT	0.403000													25	183					2.85442e-18	3.17688e-18	1	1	0
USP1	7398	broad.mit.edu	37	1	62910819	62910819	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:62910819C>G	ENST00000339950.4	+	6	1783	c.968C>G	c.(967-969)tCt>tGt	p.S323C	USP1_ENST00000371146.1_Missense_Mutation_p.S323C	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	323					DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process	nucleoplasm	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		AAGTATATTTCTGAAAATGAG	0.343000													3	70					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10133873	10133873	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:10133873A>C	ENST00000287647.3	+	38	3879	c.3786A>C	c.(3784-3786)gaA>gaC	p.E1262D	FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.K1231T|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1262D|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1262D	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1262					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AGATTCATGAAGAGAAACTCC	0.418000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				64	303					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31538215	31538215	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:31538215C>T	ENST00000261592.5	-	7	1521	c.1224G>A	c.(1222-1224)ctG>ctA	p.L408L	NOL4_ENST00000269185.4_Silent_p.L294L|NOL4_ENST00000589544.1_Silent_p.L408L|NOL4_ENST00000538587.1_Silent_p.L334L|NOL4_ENST00000535475.1_Silent_p.L253L|NOL4_ENST00000535384.1_Silent_p.L123L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	408						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TAAAAGCTTTCAGCCGCTCGG	0.448000													17	73					0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219746934	219746934	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219746934C>T	ENST00000258411.3	+	2	798	c.165C>T	c.(163-165)ctC>ctT	p.L55L		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	55					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCCGTGCTCAATGCCAACA	0.617000													19	67					0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12326037	12326037	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:12326037G>A	ENST00000317702.5	+	4	1483	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	417					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAACATGAACGACCTGGTATC	0.557000													9	201					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272851	65272851	+	RNA	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:65272851C>T	ENST00000534336.1	+	0	7619					NR_002819.2																						CTTGAAGTACCCCTGGGCTTC	0.443000													11	37					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873336	55873336	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55873336T>C	ENST00000313503.1	+	1	818	c.818T>C	c.(817-819)gTg>gCg	p.V273A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					AGAGATCAAGTGGCTTCTGTT	0.373000										HNSCC(53;0.14)			16	96					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88679230	88679230	+	Silent	SNP	C	C	G	rs141317844	by1000genomes	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:88679230C>G	ENST00000394480.2	-	9	1128	c.807G>C	c.(805-807)acG>acC	p.T269T	NTRK3_ENST00000557856.1_Silent_p.T269T|NTRK3_ENST00000360948.2_Silent_p.T269T|NTRK3_ENST00000542733.2_Silent_p.T171T|NTRK3_ENST00000317501.3_Silent_p.T269T|NTRK3_ENST00000357724.2_Silent_p.T269T|NTRK3_ENST00000558676.1_Silent_p.T269T|NTRK3_ENST00000355254.2_Silent_p.T269T|NTRK3_ENST00000540489.2_Silent_p.T269T	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		Ig-like C2-type 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CATTCACCAGCGTCAAGTTGA	0.478000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			16	154					0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17552329	17552329	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17552329G>C	ENST00000375471.4	+	5	524	c.432G>C	c.(430-432)gaG>gaC	p.E144D		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	144					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGGGCCCTGAGGGCTATGGGG	0.602000													18	150					0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78475048	78475048	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:78475048G>A	ENST00000258873.4	-	6	948	c.743C>T	c.(742-744)aCg>aTg	p.T248M	ACSBG1_ENST00000560817.1_Splice_Site_p.T6M|ACSBG1_ENST00000541759.1_Splice_Site_p.T6M	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	248					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGCCCATACCGTGTACACATT	0.537000													27	161					0	0	1	0	0
ACO2	50	broad.mit.edu	37	22	41918881	41918881	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:41918881T>A	ENST00000396512.3	+	10	1278	c.1261T>A	c.(1261-1263)Tca>Aca	p.S421T	ACO2_ENST00000216254.4_Missense_Mutation_p.S396T			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	396					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TATGGGGCGCTCAGCAGCTGT	0.572000													19	78					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81950697	81950697	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81950697C>A	ENST00000336735.4	-	19	2034	c.1918G>T	c.(1918-1920)Ggg>Tgg	p.G640W		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	640	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGCCAAACCCATAGAAATGG	0.368000													18	161					2.4624e-09	2.64112e-09	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10466033	10466033	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:10466033C>T	ENST00000382483.3	-	4	5798	c.5575G>A	c.(5575-5577)Gat>Aat	p.D1859N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1859					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCTGGGCATCCCCTTCTGCC	0.627000													14	323					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40650683	40650683	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:40650683G>A	ENST00000342449.3	-	10	1067	c.989C>T	c.(988-990)tCt>tTt	p.S330F	BRWD1_ENST00000380800.3_Missense_Mutation_p.S330F|BRWD1_ENST00000333229.2_Missense_Mutation_p.S330F	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTAAAAGAAGAACAAAGCAT	0.328000													6	110					0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61067362	61067362	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:61067362C>G	ENST00000238497.5	-	7	912	c.709G>C	c.(709-711)Gat>Cat	p.D237H	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	237					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CAGAGAGAATCAATTTCATCA	0.343000													16	118					0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3293415	3293415	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:3293415C>T	ENST00000292672.2	+	12	1466	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	CELF5_ENST00000541430.2_3'UTR	NM_021938.3	NP_068757.2	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	477	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CCAGCTGAAGCGGCCCAAAGA	0.672000													3	81					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807165	6807165	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:6807165G>A	ENST00000307401.4	+	1	918	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	299			R -> G (in dbSNP:rs2659879).|R -> W (in dbSNP:rs2659879).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCATGCGGGCCTTGAGGA	0.502000													3	117					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120517749	120517749	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:120517749C>G	ENST00000354960.3	-	3	1079	c.760G>C	c.(760-762)Gaa>Caa	p.E254Q	PDE5A_ENST00000394439.1_Missense_Mutation_p.E202Q|PDE5A_ENST00000264805.5_Missense_Mutation_p.E212Q	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	254	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TGGTCAACTTCTGCATTGAAC	0.323000													3	79					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922324	108922324	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:108922324T>G	ENST00000375887.4	+	1	259	c.81T>G	c.(79-81)tgT>tgG	p.C27W	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.C27W|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.C27W	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	27					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			TGAAGGAGTGTGTTTCCATCC	0.498000													12	219					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200967639	200967639	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200967639G>C	ENST00000332129.2	-	14	2266	c.1950C>G	c.(1948-1950)atC>atG	p.I650M	KIF21B_ENST00000461742.2_Missense_Mutation_p.I650M|KIF21B_ENST00000422435.2_Missense_Mutation_p.I650M|KIF21B_ENST00000360529.5_Missense_Mutation_p.I650M	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	650					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.I650I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCAGCTCGTCGATCAGCTTCT	0.562000													23	235					0	0	1	0	0
PPAP2C	8612	broad.mit.edu	37	19	281413	281413	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:281413T>C	ENST00000269812.3	-	6	891	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	PPAP2C_ENST00000434325.2_Missense_Mutation_p.Y225C|PPAP2C_ENST00000327790.3_Missense_Mutation_p.Y302C	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	281					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGGTATCCATAGTGGTTGTG	0.657000													5	32					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769595	140769595	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140769595G>A	ENST00000519479.1	+	1	2144	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGCGACGCTCCTCCAGC	0.587000													9	306					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963497	73963497	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:73963497C>G	ENST00000055682.6	-	3	1506	c.895G>C	c.(895-897)Gat>Cat	p.D299H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTTGATTCATCATCATCAAAC	0.393000													3	94					0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239443	21239443	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:21239443A>G	ENST00000261560.5	+	5	510	c.329A>G	c.(328-330)tAt>tGt	p.Y110C		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	110					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAGTTACATATTCTCATTTT	0.308000													7	63					0	0	1	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764040	140764040	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140764040T>A	ENST00000518325.1	+	1	1574	c.1574T>A	c.(1573-1575)tTg>tAg	p.L525*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGAGCAGTTGAGAGAACTA	0.532000													5	67					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155152224	155152224	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:155152224C>A	ENST00000368382.1	+	8	1470	c.1333C>A	c.(1333-1335)Cgc>Agc	p.R445S	TRIM46_ENST00000368383.3_Missense_Mutation_p.R468S|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.R342S|TRIM46_ENST00000392451.2_Silent_p.G480G|TRIM46_ENST00000334634.4_Missense_Mutation_p.R468S|TRIM46_ENST00000543729.1_Silent_p.G487G|TRIM46_ENST00000368385.4_Missense_Mutation_p.R468S	NM_001256599.1|NM_001256600.1|NM_001256601.1|NM_025058.4	NP_001243528.1|NP_001243529.1|NP_001243530.1|NP_079334.3	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	468	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGAGTTCCGGCGCACGGATGT	0.652000													5	54					0.0215528	0.021675	1	1	0
MCM7	4176	broad.mit.edu	37	7	99697266	99697266	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:99697266C>T	ENST00000303887.5	-	3	867	c.222G>A	c.(220-222)gcG>gcA	p.A74A	MCM7_ENST00000343023.6_Silent_p.A74A|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	74					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|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CAAAGAGCTTCGCGTAGCGCC	0.542000													5	188					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12405437	12405437	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:12405437C>T	ENST00000358136.3	+	43	9022	c.8892C>T	c.(8890-8892)acC>acT	p.T2964T	VPS13D_ENST00000356315.4_Silent_p.T2939T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2963					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACAGACACACCCATGACCTCC	0.438000													23	166					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65179748	65179748	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:65179748G>T	ENST00000310045.7	-	2	3601	c.2128C>A	c.(2128-2130)Cct>Act	p.P710T	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	700						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGAAGTCCAGGATTGGAACTA	0.348000													6	56					0.00198382	0.0020257	1	1	0
IRX6	79190	broad.mit.edu	37	16	55362966	55362966	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55362966C>T	ENST00000290552.7	+	5	2408	c.1076C>T	c.(1075-1077)aCa>aTa	p.T359I	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CACACCGCGACAGCCAGCGCT	0.637000													14	104					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79855446	79855446	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:79855446T>C	ENST00000338682.3	-	5	1065	c.393A>G	c.(391-393)acA>acG	p.T131T		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	131						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TCAGGGTCTCTGTATCTTCTG	0.438000													23	131					0	0	1	0	0
ABHD17A	81926	broad.mit.edu	37	19	1881473	1881473	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1881473C>T	ENST00000292577.7	-	2	526	c.93G>A	c.(91-93)ccG>ccA	p.P31P	ABHD17A_ENST00000590661.1_Silent_p.P31P|ABHD17A_ENST00000250974.9_Silent_p.P31P	NM_001130111.1	NP_001123583.1			abhydrolase domain containing 17A																		AGGTGGCCTCCGGCGGCAGGA	0.751000													4	66					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63032843	63032843	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:63032843G>C	ENST00000561311.1	+	31	4130	c.3900G>C	c.(3898-3900)caG>caC	p.Q1300H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q1300H			Q9Y4G6	TLN2_HUMAN	talin 2	1300					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						AAGAAGACCAGATCCAAGTGA	0.502000													21	101					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109697168	109697168	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:109697168C>G	ENST00000465301.2	+	3	3569	c.3323C>G	c.(3322-3324)tCt>tGt	p.S1108C	RGAG1_ENST00000540313.1_Missense_Mutation_p.S1108C	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1108										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCATCCACCTCTCACATTAAC	0.532000													14	112					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	rs113946258		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592000													3	122					0	0	1	0	0
C9orf156	51531	broad.mit.edu	37	9	100667070	100667070	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:100667070G>A	ENST00000375119.3	-	5	1347	c.1271C>T	c.(1270-1272)tCt>tTt	p.S424F		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	424					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AACAGGCTCAGAAGCCGGCTT	0.502000													14	109					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125166629	125166629	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:125166629C>T	ENST00000251775.4	-	14	1371	c.1347G>A	c.(1345-1347)aaG>aaA	p.K449K	SNX4_ENST00000536067.1_Silent_p.K304K	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	449					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						AGGATTACATCTTGCTAAAGC	0.313000													17	118					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81743987	81743987	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:81743987T>C	ENST00000555447.1	-	6	2080	c.1668A>G	c.(1666-1668)tcA>tcG	p.S556S	STON2_ENST00000267540.2_Silent_p.S556S	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	556	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TCAAGTCCATTGACAACACTG	0.478000													6	43					0	0	1	0	0
SLC39A10	57181	broad.mit.edu	37	2	196581361	196581361	+	Splice_Site	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:196581361G>C	ENST00000409086.3	+	7	1972	c.1697G>C	c.(1696-1698)gGa>gCa	p.G566A	SLC39A10_ENST00000359634.5_Splice_Site_p.G566A|SLC39A10_ENST00000541054.1_Splice_Site_p.G116A	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	566					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ATAAATACAGGAACTGATGAC	0.323000													11	82					0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111936346	111936346	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:111936346C>T	ENST00000305815.5	-	15	1985	c.1733G>A	c.(1732-1734)aGa>aAa	p.R578K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R530K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	578					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TAGTAGTTTTCTAGCAAAGGT	0.303000													5	82					0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177573138	177573138	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:177573138C>T	ENST00000515098.1	+	9	1069	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	RMND5B_ENST00000313386.4_Silent_p.L240L|RMND5B_ENST00000542098.1_Silent_p.L227L			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	240										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGGCAGCCTGGTGTACCT	0.642000											OREG0017097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	48					0	0	1	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922325	108922325	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:108922325G>A	ENST00000375887.4	+	1	260	c.82G>A	c.(82-84)Gtt>Att	p.V28I	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.V28I|TNFSF13B_ENST00000542136.1_Missense_Mutation_p.V28I	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	28					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			GAAGGAGTGTGTTTCCATCCT	0.498000													11	222					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140236270	140236270	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140236270G>A	ENST00000307360.5	+	1	637	c.637G>A	c.(637-639)Gca>Aca	p.A213T	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A213T|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGTTGACAGCAACTGATGG	0.423000													21	143					0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7602960	7602960	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7602960A>G	ENST00000342415.5	+	6	759	c.700A>G	c.(700-702)Aag>Gag	p.K234E		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	234					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TCACATAACCAAGAAATCATA	0.333000													6	47					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133849925	133849925	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:133849925G>A	ENST00000367895.5	+	20	2366	c.1902G>A	c.(1900-1902)ctG>ctA	p.L634L	EYA4_ENST00000355286.6_Silent_p.L611L|RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000525849.1_Silent_p.L611L|EYA4_ENST00000431403.2_Silent_p.L634L|EYA4_ENST00000430974.2_Intron|EYA4_ENST00000452339.2_Silent_p.L580L|EYA4_ENST00000531901.1_Silent_p.L640L|EYA4_ENST00000355167.3_Silent_p.L634L	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	634					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)		ACCAAGCACTGGAATTAGAGT	0.448000													8	263					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7817000	7817000	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:7817000C>T	ENST00000338316.4	+	23	2994	c.2905C>T	c.(2905-2907)Cac>Tac	p.H969Y	ADCY2_ENST00000537121.1_Missense_Mutation_p.H789Y	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	969					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCAGTACATGCACATTGGCAC	0.517000											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	91					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552984	140552984	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:140552984A>G	ENST00000231137.3	+	1	742	c.568A>G	c.(568-570)Atc>Gtc	p.I190V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		190	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAGGGGAATATCTATCCCGA	0.488000													16	66					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80613677	80613677	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:80613677A>G	ENST00000458043.2	+	5	298	c.292A>G	c.(292-294)Aca>Gca	p.T98A	OTOGL_ENST00000547103.1_Missense_Mutation_p.T98A	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GGCTCTTGGGACAAGATGCCA	0.373000													5	18					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52473771	52473771	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52473771G>C	ENST00000231721.2	-	12	1391	c.1392C>G	c.(1390-1392)ctC>ctG	p.L464L		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	464	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CGATGACTTTGAGCACAGACC	0.632000													7	61					0	0	1	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083645	107083645	+	RNA	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:107083645G>A	ENST00000455737.1	-	0	80																											CTCACATCTGGGAGCTGCCAC	0.537000													7	65					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230278	156230278	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:156230278A>G	ENST00000361813.5	-	15	2391	c.2247T>C	c.(2245-2247)ttT>ttC	p.F749F	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	749					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GATCCGTGTCAAAGTTAAAGC	0.547000													24	179					0	0	1	0	0
SGOL1	151648	broad.mit.edu	37	3	20215950	20215950	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:20215950C>G	ENST00000412997.1	-	6	1424	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.R358T|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.R358T|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000412868.1_Missense_Mutation_p.R358T|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000306698.2_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	358					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						GTTTTCTTCTCTATTAGAGTC	0.398000													13	109					0	0	1	0	0
MRPL20	55052	broad.mit.edu	37	1	1337499	1337499	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:1337499A>G	ENST00000344843.7	-	4	509	c.414T>C	c.(412-414)ccT>ccC	p.P138P	MRPL20_ENST00000493287.1_5'UTR	NM_017971.3	NP_060441.2	Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	138							protein binding|rRNA binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	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;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		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)		AAATGCCTTCAGGTTCCTTCC	0.463000													32	215					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207300065	207300065	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:207300065C>T	ENST00000367070.3	+	7	908	c.714C>T	c.(712-714)acC>acT	p.T238T		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	238	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TAGAAATCACCTGTCGCAAGC	0.373000													21	100					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059640	152059640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152059640G>C	ENST00000368806.1	-	3	582	c.518C>G	c.(517-519)tCt>tGt	p.S173C		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	173							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATTGTGTTCAGATGCTTCTCC	0.438000													9	127					0	0	1	0	0
METTL7A	25840	broad.mit.edu	37	12	51318851	51318851	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51318851G>C	ENST00000548553.1	+	2	1011	c.30G>C	c.(28-30)ctG>ctC	p.L10L	METTL7A_ENST00000332160.4_Silent_p.L10L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	10	Targeting to lipid droplets.					endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						TCCTGAGACTGGCCATTTACA	0.453000													26	144					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128264	153128264	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:153128264C>T	ENST00000370060.1	-	29	3817	c.3628G>A	c.(3628-3630)Gat>Aat	p.D1210N	L1CAM_ENST00000370057.3_Missense_Mutation_p.D1210N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D1208N|L1CAM_ENST00000370055.1_Missense_Mutation_p.D1201N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D1201N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D1212N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D1206N	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1210					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCATAATCGGCCAGGCTG	0.597000													18	42					0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27135731	27135731	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:27135731G>C	ENST00000343028.4	-	7	1155	c.930C>G	c.(928-930)ttC>ttG	p.F310L	TM7SF3_ENST00000542667.1_Intron	NM_016551.2	NP_057635.1	Q9NS93	TM7S3_HUMAN	transmembrane 7 superfamily member 3	310	Phe-rich.					integral to membrane|plasma membrane		p.F310L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TGTGTCCAAAGAAACAAATGA	0.368000													6	36					0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102589201	102589201	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:102589201C>T	ENST00000327680.2	+	11	1595	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Missense_Mutation_p.L536F|PARPBP_ENST00000358383.5_Missense_Mutation_p.L459F|PARPBP_ENST00000392911.2_Missense_Mutation_p.L378F|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000378128.3_Intron	NM_017915.3	NP_060385.3	Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	459					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						TTTGTGTGTTCTTTACATGGA	0.264000													15	142					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60470976	60470976	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:60470976C>G	ENST00000450662.2	+	7	565	c.494C>G	c.(493-495)aCa>aGa	p.T165R	EFCAB3_ENST00000305286.3_Missense_Mutation_p.T113R	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	113							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AAGGTTCTAACAGATAAGAAT	0.408000													20	83					0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42866365	42866365	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:42866365G>A	ENST00000398585.3	-	3	327	c.267C>T	c.(265-267)taC>taT	p.Y89Y	TMPRSS2_ENST00000497881.1_Intron|TMPRSS2_ENST00000458356.1_Silent_p.Y52Y|TMPRSS2_ENST00000332149.5_Silent_p.Y52Y	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	52					proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CCCTCGGGGCGTACTGGGGCA	0.617000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								4	104					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696460	10696460	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:10696460A>G	ENST00000302079.6	-	42	6565	c.6566T>C	c.(6565-6567)gTg>gCg	p.V2189A	PIEZO2_ENST00000538948.1_Missense_Mutation_p.V146A|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2214A|PIEZO2_ENST00000503781.3_Missense_Mutation_p.V2189A|PIEZO2_ENST00000285141.4_Missense_Mutation_p.V44A			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2189						integral to membrane	ion channel activity										GAGTACATACACGTCAGTCAC	0.537000													3	94					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27703135	27703135	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:27703135C>T	ENST00000438700.3	-	1	162	c.45G>A	c.(43-45)aaG>aaA	p.K15K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	15					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TGAGCTTGGGCTTCTGCTCCG	0.642000													36	188					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018166	161018166	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:161018166G>C	ENST00000368013.3	-	12	2965	c.2645C>G	c.(2644-2646)tCt>tGt	p.S882C	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S705C|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	882	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CATCTCAGAAGAGTGAGGATT	0.572000													3	99					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64637500	64637500	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:64637500A>T	ENST00000413366.3	+	4	342	c.316A>T	c.(316-318)Atc>Ttc	p.I106F		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	106					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAAGTTCAAAATCCACACTTA	0.458000													49	216					0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78692703	78692703	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:78692703T>G	ENST00000334082.6	-	8	2261	c.819A>C	c.(817-819)gaA>gaC	p.E273D	HOMER1_ENST00000535690.1_Missense_Mutation_p.E99D|HOMER1_ENST00000282260.6_Missense_Mutation_p.E143D|HOMER1_ENST00000508576.1_Intron	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	273					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CATTATCAATTTCTTGTTTTA	0.348000													6	19					0	0	1	0	0
C15orf54	400360	broad.mit.edu	37	15	39544423	39544423	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:39544423A>G	ENST00000318578.3	+	2	455	c.87A>G	c.(85-87)ctA>ctG	p.L29L	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|C15orf54_ENST00000561223.1_Silent_p.L29L|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	29										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		CCTTATGGCTAACTCCATGGC	0.488000													9	568					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58855759	58855759	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:58855759G>C	ENST00000414170.3	+	9	1512	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	LIPC_ENST00000299022.5_Missense_Mutation_p.D409H|LIPC_ENST00000433326.2_Missense_Mutation_p.D348H|LIPC_ENST00000356113.6_Missense_Mutation_p.D409H			P11150	LIPC_HUMAN	lipase, hepatic	409	PLAT.		D -> A.		cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCTGGATGTGGATATCGGCGA	0.453000													9	176					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49446821	49446821	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:49446821G>C	ENST00000301067.7	-	8	988	c.989C>G	c.(988-990)tCa>tGa	p.S330*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CAGTTCTGCTGAGCCCGCCCC	0.567000													9	237					0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11313325	11313325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:11313325C>T	ENST00000294618.7	-	42	5307	c.5296G>A	c.(5296-5298)Gag>Aag	p.E1766K	DOCK6_ENST00000319867.7_Missense_Mutation_p.E1105K|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1766	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						AACTCCTGCTCATCCAGGTCA	0.622000													12	220					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28581659	28581659	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:28581659C>G	ENST00000434452.1	-	14	2314	c.2160G>C	c.(2158-2160)ggG>ggC	p.G720G	DSC3_ENST00000360428.4_Silent_p.G720G	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	720					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GAAAACGTTTCCCTTTAGTTG	0.284000													17	115					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48605567	48605567	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:48605567C>T	ENST00000328333.8	-	105	7938	c.7831G>A	c.(7831-7833)Gga>Aga	p.G2611R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2579R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2611	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCTTTTTCTCCTCGGATACCA	0.532000													16	83					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169948457	169948457	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:169948457G>A	ENST00000327239.4	+	7	2234	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K	DHRS9_ENST00000412271.1_Missense_Mutation_p.E244K|DHRS9_ENST00000602501.1_Missense_Mutation_p.E244K|DHRS9_ENST00000432060.2_Missense_Mutation_p.E304K|DHRS9_ENST00000357546.2_Missense_Mutation_p.E244K|DHRS9_ENST00000428522.1_Missense_Mutation_p.E244K|DHRS9_ENST00000421653.1_Missense_Mutation_p.E97K|DHRS9_ENST00000436483.2_Missense_Mutation_p.E244K	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	244					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AGGTTACATTGAAAAAAGTGA	0.403000													4	43					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104239024	104239024	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:104239024G>A	ENST00000374851.1	-	4	1498	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RP11-490D19.6_ENST00000425734.1_RNA|TMEM246_ENST00000374848.3_Silent_p.Y117Y|TMEM246_ENST00000374847.1_Silent_p.Y117Y|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000450109.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	117						integral to membrane											CCTGCAGGACGTAGTGGAAGC	0.617000													4	104					0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15728731	15728731	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:15728731T>A	ENST00000396368.3	-	4	1095	c.889A>T	c.(889-891)Aat>Tat	p.N297Y	KIAA0430_ENST00000540441.2_Missense_Mutation_p.N297Y|KIAA0430_ENST00000548025.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000551742.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000602337.1_Missense_Mutation_p.N297Y|KIAA0430_ENST00000344181.3_Missense_Mutation_p.N119Y	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	296						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GGTTGAGTATTTGGAGGTGGT	0.443000													7	174					0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133506081	133506081	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:133506081C>T	ENST00000319725.9	+	13	1259	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	395	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		AGGAACCCCCCTCCCAACAGC	0.587000													5	84					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470322	161470322	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470322C>G	ENST00000392142.4	+	3	1166	c.1018C>G	c.(1018-1020)Cat>Gat	p.H340D	MAP3K4_ENST00000366919.2_Missense_Mutation_p.H340D|MAP3K4_ENST00000348824.7_Missense_Mutation_p.H340D|MAP3K4_ENST00000366920.2_Missense_Mutation_p.H340D	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	340					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)		TTACTCAACACATCATGAGCA	0.453000													7	73					0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39381584	39381584	+	Silent	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:39381584A>T	ENST00000320816.6	-	11	1943	c.1476T>A	c.(1474-1476)ccT>ccA	p.P492P	DAB2_ENST00000509337.1_Silent_p.P471P|DAB2_ENST00000339788.6_Silent_p.P274P|DAB2_ENST00000545653.1_Silent_p.P471P	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	492					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CCACTGGGGCAGGAGCACTTG	0.522000													4	202					0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122733867	122733867	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:122733867C>G	ENST00000452194.1	+	3	475	c.288C>G	c.(286-288)ttC>ttG	p.F96L	HSF2_ENST00000368455.4_Missense_Mutation_p.F96L	NM_001135564.1	NP_001129036.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	96					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		ATCCTTACTTCAAACAAGGAC	0.398000													7	133					0	0	1	0	0
PAQR7	164091	broad.mit.edu	37	1	26189908	26189908	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:26189908C>T	ENST00000374296.3	-	2	1089	c.423G>A	c.(421-423)ctG>ctA	p.L141L	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	141					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CCACATAGTCCAGGAAGAAGA	0.547000													36	181					0	0	1	0	0
SLC29A2	3177	broad.mit.edu	37	11	66133943	66133943	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:66133943G>C	ENST00000357440.2	-	8	1054	c.826C>G	c.(826-828)Cag>Gag	p.Q276E	SLC29A2_ENST00000546034.1_Missense_Mutation_p.Q276E|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Missense_Mutation_p.Q276E	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	276					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCTGGCTTCTGGGGCTCATCT	0.537000													10	56					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1338993	1338993	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:1338993A>T	ENST00000320895.5	-	4	838	c.581T>A	c.(580-582)gTg>gAg	p.V194E	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.V61E|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.V194E	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	194					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GTACCGATGCACATCGGCAGG	0.647000													21	139					0	0	1	0	0
PQLC2	54896	broad.mit.edu	37	1	19644098	19644098	+	Translation_Start_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:19644098C>A	ENST00000375153.3	+	0	567				PQLC2_ENST00000400548.2_Intron|PQLC2_ENST00000375155.3_De_novo_Start_OutOfFrame	NM_001040125.1	NP_001035214.1	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2							integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTAGAACCCTTGCTGGCCT	0.632000													4	22					0.00909568	0.00923455	1	1	0
ZNF525	170958	broad.mit.edu	37	19	53884194	53884194	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:53884194G>C	ENST00000467003.1	+	4	455	c.254G>C	c.(253-255)gGt>gCt	p.G85A	ZNF525_ENST00000474037.1_Missense_Mutation_p.G121A|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000600148.1_3'UTR|ZNF525_ENST00000593918.1_Intron					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						AAATTGATGGGTAGTACAGAG	0.368000													6	170					0	0	1	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529993	55529993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:55529993C>T	ENST00000395468.4	+	3	853	c.676C>T	c.(676-678)Caa>Taa	p.Q226*		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like		Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TAATCCTTTCCAAGTGCCTTC	0.512000													9	102					0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75615697	75615697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:75615697C>A	ENST00000461988.1	+	16	2046	c.1941C>A	c.(1939-1941)taC>taA	p.Y647*	POR_ENST00000419840.1_Missense_Mutation_p.T348K|POR_ENST00000394893.1_3'UTR|POR_ENST00000545601.1_Nonsense_Mutation_p.Y455*|POR_ENST00000439269.1_Nonsense_Mutation_p.Y385*|POR_ENST00000450476.1_Missense_Mutation_p.T553K	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase	644					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ACACCTTCTACGACATCGTGG	0.632000													17	88					1.55795e-14	1.71245e-14	1	1	0
DYNLT3	6990	broad.mit.edu	37	X	37705596	37705596	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:37705596C>T	ENST00000378578.4	-	2	172	c.46G>A	c.(46-48)Gag>Aag	p.E16K	TM4SF2_ENST00000465127.1_Intron|DYNLT3_ENST00000432389.2_Missense_Mutation_p.E22K|DYNLT3_ENST00000378581.3_Missense_Mutation_p.E16K	NM_006520.2	NP_006511.1	P51808	DYLT3_HUMAN	dynein, light chain, Tctex-type 3	16					cell division|mitosis|regulation of mitotic cell cycle|transport	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|nucleus|plasma membrane	motor activity			endometrium(1)|lung(1)|skin(1)	3						TGGGCTTCCTCAGCATTGAAG	0.408000													6	21					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1032581	1032581	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1032581C>G	ENST00000263097.4	+	4	639	c.276C>G	c.(274-276)atC>atG	p.I92M	CNN2_ENST00000348419.3_Missense_Mutation_p.I92M|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Missense_Mutation_p.I92M|CNN2_ENST00000562958.2_Missense_Mutation_p.I92M	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	92	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		CCAACTTCATCAAGGCCATGG	0.577000													9	102					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41075732	41075732	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:41075732A>G	ENST00000324545.8	+	35	6545	c.5912A>G	c.(5911-5913)gAg>gGg	p.E1971G	USP9X_ENST00000378308.2_Missense_Mutation_p.E1971G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TATATATCAGAGCTTGCTATC	0.398000													24	54					0	0	1	0	0
CLPB	81570	broad.mit.edu	37	11	72069953	72069953	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:72069953T>C	ENST00000294053.3	-	6	1009	c.836A>G	c.(835-837)tAc>tGc	p.Y279C	CLPB_ENST00000543042.1_Missense_Mutation_p.Y78C|CLPB_ENST00000445069.2_Missense_Mutation_p.Y175C|RP11-45F15.2_ENST00000537727.1_RNA|CLPB_ENST00000437826.2_Missense_Mutation_p.Y234C|CLPB_ENST00000340729.5_Missense_Mutation_p.Y220C|CLPB_ENST00000538039.1_Missense_Mutation_p.Y249C	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	279					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GACAGTGCGGTAGTCATCAGC	0.602000													11	143					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51612779	51612779	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51612779A>G	ENST00000371117.3	-	58	9910	c.9635T>C	c.(9634-9636)tTt>tCt	p.F3212S	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3212S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3212					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATGCAGTCAAAAGAAGAGCT	0.448000													22	128					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843160	137843160	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:137843160C>T	ENST00000236709.3	-	3	1170	c.969G>A	c.(967-969)ctG>ctA	p.L323L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	323					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						GGCCTTTAATCAGGTCCCTGT	0.522000													7	114					0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51514603	51514603	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51514603G>A	ENST00000396402.1	-	5	724	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	CYP19A1_ENST00000557858.1_Silent_p.L191L|CYP19A1_ENST00000559878.1_Silent_p.L191L|CYP19A1_ENST00000405913.3_Silent_p.L191L|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Silent_p.L191L|CYP19A1_ENST00000396404.4_Silent_p.L191L	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	191					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	ACACGACGCAGAAGGGTCAAC	0.488000													8	96					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870182	21870182	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:21870182C>T	ENST00000399982.2	-	19	4060	c.3996G>A	c.(3994-3996)caG>caA	p.Q1332Q	CHD8_ENST00000557364.1_Silent_p.Q1332Q|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.Q1053Q	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1332					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTAACAAGATCTGGTCAATGT	0.413000													12	156					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292768	62292768	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292768C>G	ENST00000378024.4	-	5	9395	c.9121G>C	c.(9121-9123)Gat>Cat	p.D3041H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3041					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACATCCACATCTGGGCCCTCT	0.522000													28	401					0	0	1	0	0
GPC2	221914	broad.mit.edu	37	7	99771457	99771457	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:99771457C>A	ENST00000292377.2	-	5	1060		c.e5+1		GPC2_ENST00000471050.1_Splice_Site	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2							anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCCCTCACCCAGATAGTT	0.597000													56	628					3.13765e-25	3.54402e-25	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139917005	139917005	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:139917005A>G	ENST00000297183.6	+	31	7183	c.7059A>G	c.(7057-7059)ccA>ccG	p.P2353P	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P2353P|ANKHD1_ENST00000544120.1_Silent_p.P677P|ANKHD1_ENST00000360839.2_Silent_p.P2353P	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGCCAACCAAAAGGAGTCA	0.522000													35	149					0	0	1	0	0
NGFRAP1	27018	broad.mit.edu	37	X	102632754	102632754	+	Nonstop_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:102632754G>T	ENST00000361298.4	+	3	670	c.305G>T	c.(304-306)tGa>tTa	p.*102L	NGFRAP1_ENST00000299872.7_Nonstop_Mutation_p.*112L|NGFRAP1_ENST00000372635.1_Nonstop_Mutation_p.*112L|NGFRAP1_ENST00000372645.3_Nonstop_Mutation_p.*112L|NGFRAP1_ENST00000372634.1_Nonstop_Mutation_p.*102L	NM_206915.1|NM_206917.1	NP_996798.1|NP_996800.1	Q00994	BEX3_HUMAN	nerve growth factor receptor (TNFRSF16) associated protein 1	0	Interaction with 14-3-3 epsilon (By similarity).				apoptosis|multicellular organismal development|nerve growth factor receptor signaling pathway	cytosol|nucleus	caspase regulator activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTATGCCTTGACTCCTGCCA	0.418000													9	42					3.09899e-07	3.27115e-07	1	1	0
EMID1	129080	broad.mit.edu	37	22	29622494	29622494	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:29622494G>A	ENST00000334018.6	+	5	607	c.419G>A	c.(418-420)aGc>aAc	p.S140N	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Missense_Mutation_p.S140N|EMID1_ENST00000404820.3_Missense_Mutation_p.S140N	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	138						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						CTCAACTGCAGCAAAGTGTCA	0.632000													15	55					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122782704	122782704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:122782704T>A	ENST00000264499.4	-	4	479	c.296A>T	c.(295-297)cAg>cTg	p.Q99L	BBS7_ENST00000506636.1_Missense_Mutation_p.Q99L	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	99					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GGAGAGGAACTGTTTTCCTCT	0.353000									Bardet-Biedl syndrome				14	57					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55214318	55214318	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:55214318G>A	ENST00000275493.2	+	4	621	c.444G>A	c.(442-444)gtG>gtA	p.V148V	EGFR_ENST00000344576.2_Silent_p.V148V|EGFR_ENST00000420316.2_Silent_p.V148V|EGFR_ENST00000454757.2_Silent_p.V95V|EGFR_ENST00000455089.1_Intron|EGFR_ENST00000342916.3_Silent_p.V148V|EGFR_ENST00000442591.1_Silent_p.V148V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	148					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGGCGCCGTGCGGTTCAGCA	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			15	102					0	0	1	0	0
SNX8	29886	broad.mit.edu	37	7	2311576	2311576	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:2311576C>G	ENST00000222990.3	-	4	491	c.449G>C	c.(448-450)aGa>aCa	p.R150T		NM_013321.2	NP_037453.1	Q9Y5X2	SNX8_HUMAN	sorting nexin 8	150	PX.				cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CTTCAGGGCTCTCCTCCTGGC	0.637000													4	59					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85678145	85678145	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:85678145A>T	ENST00000322366.6	-	33	5765	c.5358T>A	c.(5356-5358)agT>agA	p.S1786R	WDFY3_ENST00000295888.4_Missense_Mutation_p.S1786R			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1786						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAGGCAGCTCACTAACTGGCT	0.502000													30	214					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40118569	40118569	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:40118569C>A	ENST00000373233.3	-	12	1706	c.1529G>T	c.(1528-1530)gGc>gTc	p.G510V	CHD6_ENST00000309279.7_Missense_Mutation_p.G510V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	510	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGAAAAGGGCCGTGGATTCC	0.493000													27	119					4.59853e-10	4.97239e-10	1	1	0
CNNM4	26504	broad.mit.edu	37	2	97427544	97427544	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:97427544A>T	ENST00000377075.2	+	1	906	c.808A>T	c.(808-810)Atg>Ttg	p.M270L		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	270	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GTCCGGCCTCATGGCGGTGGC	0.592000													12	176					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113655277	113655277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:113655277G>A	ENST00000361127.5	+	14	2173	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CGAGGATGACGTCTTCTTTAT	0.483000													10	56					0	0	1	0	0
ZBTB3	79842	broad.mit.edu	37	11	62521022	62521022	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62521022G>C	ENST00000394807.3	-	2	390	c.265C>G	c.(265-267)Cgg>Ggg	p.R89G		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R89G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AGCACAGCCCGATGGGCCAAG	0.557000													4	26					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362131	87362131	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:87362131G>A	ENST00000327946.7	-	16	3014	c.2929C>T	c.(2929-2931)Cgg>Tgg	p.R977W	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.R548W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	977						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGGCTCTGCCGGAACAGCCCC	0.667000										Multiple Myeloma(13;0.14)			21	96					0	0	1	0	0
REEP3	221035	broad.mit.edu	37	10	65369972	65369972	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:65369972T>G	ENST00000373758.4	+	6	626	c.443T>G	c.(442-444)tTa>tGa	p.L148*	REEP3_ENST00000298249.4_Nonsense_Mutation_p.L133*	NM_001001330.2	NP_001001330.1	Q6NUK4	REEP3_HUMAN	receptor accessory protein 3	148						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGTTTAAGAAGCTTC	0.353000													3	10					0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66021464	66021464	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:66021464T>C	ENST00000443035.3	-	11	1648	c.1433A>G	c.(1432-1434)tAt>tGt	p.Y478C	DENND4A_ENST00000431932.2_Missense_Mutation_p.Y478C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	478	DENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGGAGGATCATAGAGATCAAA	0.393000													5	19					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8422784	8422784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:8422784C>A	ENST00000379660.4	-	5	942	c.493G>T	c.(493-495)Ggc>Tgc	p.G165C	SLC35B3_ENST00000339306.5_Missense_Mutation_p.G165C	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	165					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTCAGGTAGCCCAAGGAAGTG	0.358000													16	66					4.35082e-09	4.65721e-09	1	1	0
ARID5B	84159	broad.mit.edu	37	10	63850916	63850916	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:63850916C>T	ENST00000279873.7	+	10	2104	c.1694C>T	c.(1693-1695)aCc>aTc	p.T565I	ARID5B_ENST00000309334.5_Missense_Mutation_p.T322I	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	565					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAGCCACTCACCTCTCCTAGT	0.562000													14	62					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174336	63174336	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174336G>C	ENST00000322893.7	-	11	3125	c.2857C>G	c.(2857-2859)Ccc>Gcc	p.P953A	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	953					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGGGATTTGGGAGATGAGGCC	0.463000													19	211					0	0	1	0	0
HNRNPA1	3178	broad.mit.edu	37	12	54675607	54675607	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:54675607C>G	ENST00000546500.1	+	3	776	c.161C>G	c.(160-162)tCc>tGc	p.S54C	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.S54C|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.S54C|HNRNPA1_ENST00000340913.6_Missense_Mutation_p.S54C|RP11-968A15.8_ENST00000553061.1_RNA			P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	54	Globular A domain.|RRM 1.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						ACCAAGCGCTCCAGGGGCTTT	0.448000													7	30					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579040	82579040	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82579040C>T	ENST00000333891.9	-	6	11201	c.10864G>A	c.(10864-10866)Gtc>Atc	p.V3622I	PCLO_ENST00000423517.2_Missense_Mutation_p.V3622I|PCLO_ENST00000437081.1_Missense_Mutation_p.V342I	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGTAAAGGACTTTGGGGGAT	0.478000													18	99					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40872687	40872687	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:40872687G>A	ENST00000409587.1	+	5	507	c.110G>A	c.(109-111)cGc>cAc	p.R37H	PLD3_ENST00000409735.4_Missense_Mutation_p.R37H|PLD3_ENST00000356508.5_Missense_Mutation_p.R37H|PLD3_ENST00000409419.1_Missense_Mutation_p.R37H|PLD3_ENST00000409281.1_Missense_Mutation_p.R37H			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	37					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CAGAAAGCCCGCTGGGTCCTG	0.627000													5	54					0	0	1	0	0
SLC35G1	159371	broad.mit.edu	37	10	95660964	95660964	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:95660964T>C	ENST00000371408.3	+	3	873	c.812T>C	c.(811-813)gTa>gCa	p.V271A	SLC35G1_ENST00000427197.1_Missense_Mutation_p.V272A			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	272	DUF6 2.					integral to membrane											ATCCTCTCTGTATTAGGAGAG	0.413000													3	70					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30331900	30331900	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr21:30331900C>A	ENST00000389194.2	-	13	2616	c.2611G>T	c.(2611-2613)Gat>Tat	p.D871Y	LTN1_ENST00000361371.5_Missense_Mutation_p.D825Y	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	825							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAGGCCACATCACAGATAAAA	0.343000													18	102					3.62473e-10	3.92741e-10	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228172496	228172496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:228172496G>A	ENST00000396578.3	+	48	4485	c.4323G>A	c.(4321-4323)tgG>tgA	p.W1441*	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1441	Epitope recognized by Goodpasture antibodies.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CTGCAACCTGGACAACGAGAG	0.468000													13	88					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51792343	51792343	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:51792343G>C	ENST00000251076.5	-	18	3365	c.3078C>G	c.(3076-3078)ttC>ttG	p.F1026L	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.F1026L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1026						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AACATTTCCAGAAGCGTACTT	0.363000													5	108					0	0	1	0	0
DNAJC27	51277	broad.mit.edu	37	2	25180826	25180826	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:25180826G>A	ENST00000264711.2	-	4	447	c.258C>T	c.(256-258)taC>taT	p.Y86Y	DNAJC27_ENST00000468467.1_5'UTR|DNAJC27_ENST00000534855.1_Silent_p.Y15Y	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	86					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GTGTGTCCTTGTAAAACTCAT	0.418000													6	56					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47458631	47458631	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:47458631G>A	ENST00000265565.5	-	18	3449	c.3037C>T	c.(3037-3039)Ctg>Ttg	p.L1013L	SCAP_ENST00000441517.2_Silent_p.L757L|SCAP_ENST00000545718.1_Silent_p.L620L	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1013	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAGAACACCAGAGCGGTAATG	0.587000													13	60					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427924	47427924	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:47427924C>G	ENST00000295454.3	+	9	1606	c.1314C>G	c.(1312-1314)gtC>gtG	p.V438V	GABRB1_ENST00000538619.1_Silent_p.V368V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	438					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCTCAAAGTCAAGATCCCCG	0.572000													20	157					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	23003016	23003016	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:23003016C>G	ENST00000313077.7	+	31	3863	c.3738C>G	c.(3736-3738)atC>atG	p.I1246M	CYFIP1_ENST00000435939.2_Missense_Mutation_p.I815M|CYFIP1_ENST00000560848.1_Missense_Mutation_p.I1246M	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1246					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGCCGCCCATCCACCAGTCCC	0.552000													5	38					0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183217612	183217612	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:183217612T>A	ENST00000341319.3	-	4	948	c.913A>T	c.(913-915)Att>Ttt	p.I305F		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	305										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGTTCCGAAATGATCTGGAAA	0.522000													6	42					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41482170	41482170	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41482170G>T	ENST00000314992.5	-	9	1037	c.847C>A	c.(847-849)Cgc>Agc	p.R283S	EXD1_ENST00000458580.2_Missense_Mutation_p.R341S	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	283					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						GACCCTTCGCGATACGTGTTT	0.547000													7	132					2.17888e-05	2.25958e-05	1	1	0
CEP104	9731	broad.mit.edu	37	1	3740058	3740058	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:3740058C>A	ENST00000378230.3	-	19	2757	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	811						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AACGGTAACACTTTCCAAACC	0.507000													10	114					0.000978159	0.00100073	1	1	0
PLEKHH1	57475	broad.mit.edu	37	14	68040539	68040539	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:68040539C>T	ENST00000329153.5	+	13	1993	c.1861C>T	c.(1861-1863)Caa>Taa	p.Q621*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	621	PH 1.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CCGGAAACCTCAAGGCCAAGT	0.502000													7	131					0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31624294	31624294	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:31624294G>C	ENST00000349552.1	+	7	621	c.621G>C	c.(619-621)ctG>ctC	p.L207L		NM_174897.2	NP_777557.1	Q8NFQ5	BPIL3_HUMAN	BPI fold containing family B, member 6	207						extracellular region	lipid binding										AATATGTTCTGATGTCCGCAC	0.587000													24	319					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73959821	73959821	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:73959821T>C	ENST00000358602.4	-	28	5418	c.5302A>G	c.(5302-5304)Act>Gct	p.T1768A	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1517A|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1655A	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1768	KH.				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)			CGGTCTCCAGTCTTGTCTTTC	0.358000													139	120					0	0	1	0	0
MIA-RAB4B	100529262	broad.mit.edu	37	19	41281765	41281765	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:41281765G>A	ENST00000600729.1	+	3	658	c.236G>A	c.(235-237)cGt>cAt	p.R79H	MIA_ENST00000594436.1_Missense_Mutation_p.R79H|MIA_ENST00000263369.3_Missense_Mutation_p.R79H|MIA_ENST00000597784.1_Missense_Mutation_p.R79H																							CTGAAGGGCCGTGGGCGGCTC	0.577000													3	86					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657934	49657934	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:49657934C>G	ENST00000252825.4	-	1	747	c.561G>C	c.(559-561)ggG>ggC	p.G187G	HRC_ENST00000595625.1_Silent_p.G187G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	187	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATCATCTTCCCCATCATGGC	0.577000													8	97					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803662	27803662	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:27803662A>G	ENST00000408964.2	+	1	4274	c.4223A>G	c.(4222-4224)gAc>gGc	p.D1408G		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1408										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCAAAAGAGACAAGAGGTCA	0.488000													28	111					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872742	55872742	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:55872742C>G	ENST00000313503.1	+	1	224	c.224C>G	c.(223-225)tCa>tGa	p.S75*		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCAGTTACTCAACTGTCGTC	0.438000										HNSCC(53;0.14)			22	485					0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77664069	77664069	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:77664069G>A	ENST00000397778.2	-	6	905	c.723C>T	c.(721-723)gaC>gaT	p.D241D	PQLC1_ENST00000357575.4_Silent_p.D223D|PQLC1_ENST00000590895.1_5'UTR|PQLC1_ENST00000590381.1_3'UTR|PQLC1_ENST00000409073.1_Silent_p.D158D	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	241						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGATGGCCAGGTCCACCAGCA	0.682000													6	34					0	0	1	0	0
ZKSCAN7	55888	broad.mit.edu	37	3	44612226	44612226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:44612226C>T	ENST00000273320.3	+	6	2053	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Nonsense_Mutation_p.Q542*|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7																		CATTGACCATCAGAGAATCCA	0.453000													15	160					0	0	1	0	0
CLYBL	171425	broad.mit.edu	37	13	100425084	100425084	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:100425084G>A	ENST00000376355.3	+	2	100	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CLYBL_ENST00000376360.1_Silent_p.A23A|CLYBL_ENST00000339105.4_Silent_p.A23A|CLYBL_ENST00000444838.2_Silent_p.A23A|CLYBL_ENST00000376354.1_Silent_p.A23A	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	23					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGGAAAGCGTCTCTAGCAG	0.393000													33	174					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470668	4470668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:4470668C>G	ENST00000325719.4	+	1	144	c.99C>G	c.(97-99)ttC>ttG	p.F33L		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATCCCTTTCTGCTTAGCAT	0.517000													18	112					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108201015	108201015	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:108201015G>C	ENST00000278616.4	+	50	7767	c.7382G>C	c.(7381-7383)cGc>cCc	p.R2461P	ATM_ENST00000452508.2_Missense_Mutation_p.R2461P|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2461	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GATCGTAAACGCTTCTTATGT	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			10	44					0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365608	30365608	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:30365608C>T	ENST00000305596.3	-	3	289	c.114G>A	c.(112-114)ggG>ggA	p.G38G	CD2BP2_ENST00000569466.1_Silent_p.G38G	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	38					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAAAGCGGCTCCCAGGACCCC	0.537000													25	362					0	0	1	0	0
PSMB6	5694	broad.mit.edu	37	17	4700748	4700748	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:4700748T>A	ENST00000270586.3	+	3	237	c.186T>A	c.(184-186)aaT>aaA	p.N62K		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	62					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						ACATCGCCAATCGAGTGACTG	0.552000													25	130					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70890760	70890760	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:70890760C>T	ENST00000264436.4	-	16	2422	c.1978G>A	c.(1978-1980)Gaa>Aaa	p.E660K	ADD2_ENST00000407644.2_Missense_Mutation_p.E660K|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						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						CTGAGGATTTCCTCTGCCGTC	0.577000													33	141					0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275416	35275416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:35275416G>A	ENST00000356321.4	-	3	564	c.220C>T	c.(220-222)Caa>Taa	p.Q74*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGAGTTAGTTGATGCCTCTCC	0.358000													12	84					0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139306631	139306631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:139306631G>C	ENST00000371717.3	+	2	263	c.254G>C	c.(253-255)gGa>gCa	p.G85A	PMPCA_ENST00000371720.1_Missense_Mutation_p.G85A|PMPCA_ENST00000399219.3_5'UTR	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	85					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		AATAAGTTTGGACAGTTTTGT	0.423000													10	277					0	0	1	0	0
SUCO	51430	broad.mit.edu	37	1	172501849	172501849	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:172501849G>T	ENST00000367723.4	+	1	361	c.237G>T	c.(235-237)agG>agT	p.R79S	SUCO_ENST00000608151.1_Missense_Mutation_p.R79S	NM_016227.2	NP_057311.3			SUN domain containing ossification factor																		TGGATTCTAGGAGGGACTGGG	0.507000													5	77					0.0215528	0.021675	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55113489	55113489	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:55113489C>G	ENST00000370862.3	+	2	612	c.276C>G	c.(274-276)ttC>ttG	p.F92L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	92					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CCAACTACTTCATAGTCAATC	0.453000													6	176					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169257	90169257	+	Missense_Mutation	SNP	C	C	T	rs140505056		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:90169257C>T	ENST00000609438.1	-	2	2523	c.2005G>A	c.(2005-2007)Gca>Aca	p.A669T	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A669T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTGGAGTCTGCGCCAAGCTGC	0.547000													8	53					0	0	1	0	0
TRAV7	28686	broad.mit.edu	37	14	22251588	22251588	+	RNA	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:22251588T>C	ENST00000390429.3	+	0	205																											CAAACACCTATTATCCATGTA	0.458000													11	69					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570047	248570047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248570047T>C	ENST00000366474.1	+	1	752	c.752T>C	c.(751-753)gTg>gCg	p.V251A		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGATGTATGTGTGCTGTGTT	0.507000													26	89					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73919617	73919617	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:73919617G>T	ENST00000586717.1	-	13	1305	c.1032C>A	c.(1030-1032)gaC>gaA	p.D344E	FBF1_ENST00000389570.4_Missense_Mutation_p.D344E|FBF1_ENST00000319129.5_Missense_Mutation_p.D343E			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	343										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCCCAACCAGTCAGCTCCTC	0.622000													5	13					0.217242	0.217242	1	1	0
ERCC6L2	375748	broad.mit.edu	37	9	98691012	98691012	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:98691012G>A	ENST00000288985.7	+	11	1955	c.1650G>A	c.(1648-1650)gtG>gtA	p.V550V	ERCC6L2_ENST00000437817.1_Silent_p.V361V|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	550	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TGCTTGACGTGCTACAGCAGT	0.393000													22	103					0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61196738	61196738	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:61196738G>A	ENST00000340437.4	-	2	179	c.99C>T	c.(97-99)atC>atT	p.I33I	CPSF7_ENST00000439958.3_5'UTR|CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR|CPSF7_ENST00000541963.1_5'UTR	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	0					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGTCCGGAGGATGGACAAAG	0.507000													6	126					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293647	29293647	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:29293647C>G	ENST00000331664.5	-	1	3480	c.3481G>C	c.(3481-3483)Gaa>Caa	p.E1161Q		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1161					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTCCAGCATTCTGCTGGGTTC	0.622000													3	60					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103270433	103270433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103270433C>T	ENST00000375735.2	+	84	12343	c.12199C>T	c.(12199-12201)Cga>Tga	p.R4067*	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Nonsense_Mutation_p.R4074*	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4067					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TCCTAACGATCGACAAGGATC	0.348000													13	31					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998670	46998670	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46998670T>C	ENST00000599531.1	-	1	1085	c.53A>G	c.(52-54)cAc>cGc	p.H18R	PNMAL2_ENST00000377655.2_Missense_Mutation_p.H18R|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	18										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		cagggccctgtgcgcgtccac	0.687000													7	59					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48752728	48752728	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:48752728G>A	ENST00000285238.8	+	20	2685	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	869					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGCAGCGTTGGAAGGTGCAGA	0.522000													5	84					0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57850077	57850077	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:57850077G>A	ENST00000266646.2	+	2	715	c.499G>A	c.(499-501)Ggc>Agc	p.G167S	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	167					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CACCAACCTGGGCTGGCATAC	0.577000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	87	336					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53775912	53775912	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:53775912T>G	ENST00000426431.2	+	3	220	c.160T>G	c.(160-162)Ttg>Gtg	p.L54V	SP1_ENST00000327443.4_Missense_Mutation_p.L61V	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	61	Repressor domain.|Ser/Thr-rich.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCCATCCCCTTTGGCTCTGCT	0.542000											OREG0021870	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	75					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24822144	24822144	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:24822144A>G	ENST00000376451.2	+	11	2701	c.2441A>G	c.(2440-2442)gAc>gGc	p.D814G	KIAA1217_ENST00000376462.1_Missense_Mutation_p.D1051G|KIAA1217_ENST00000307544.6_Missense_Mutation_p.D814G|KIAA1217_ENST00000396445.1_Missense_Mutation_p.D814G|KIAA1217_ENST00000376454.3_Missense_Mutation_p.D1131G|KIAA1217_ENST00000458595.1_Missense_Mutation_p.D1096G|KIAA1217_ENST00000396446.1_Missense_Mutation_p.D814G|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D1095G			Q5T5P2	SKT_HUMAN	KIAA1217	1131					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAAGAAGGAGACAAAATAATG	0.537000													9	72					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039733	248039733	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:248039733A>G	ENST00000366481.3	+	6	1451	c.1403A>G	c.(1402-1404)aAt>aGt	p.N468S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	468						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGGTCAGGAAATTGGGCATCC	0.448000													26	81					0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18591868	18591868	+	Missense_Mutation	SNP	G	G	C	rs150966697		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:18591868G>C	ENST00000396197.3	-	4	278	c.250C>G	c.(250-252)Ccc>Gcc	p.P84A	UEVLD_ENST00000543987.1_Missense_Mutation_p.P84A|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000379387.4_Missense_Mutation_p.P62A|UEVLD_ENST00000300038.7_Missense_Mutation_p.P84A|UEVLD_ENST00000540666.1_Intron|UEVLD_ENST00000320750.6_Missense_Mutation_p.P62A|UEVLD_ENST00000535484.1_Missense_Mutation_p.P46A	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	84	UEV.				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAATAGGGGGAGCGAAAGGG	0.368000													4	80					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557000													16	72					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62294178	62294178	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62294178C>G	ENST00000378024.4	-	5	7985	c.7711G>C	c.(7711-7713)Gag>Cag	p.E2571Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2571					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTTCATCTCTGGCATCTTT	0.473000													19	260					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56136669	56136669	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:56136669C>T	ENST00000319441.4	+	2	366	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	PCK1_ENST00000543666.1_5'UTR|PCK1_ENST00000535860.1_5'UTR	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	68					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CATCCTCAGGCGGCTGAAGAA	0.617000													12	110					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39987108	39987108	+	Silent	SNP	G	G	A	rs145669913		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:39987108G>A	ENST00000373257.3	+	19	2428	c.2337G>A	c.(2335-2337)ctG>ctA	p.L779L	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	779	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGGTGGGCCTGCCTGAGTCAC	0.602000													5	117					0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89352340	89352340	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:89352340T>A	ENST00000380265.5	+	16	2208	c.2025T>A	c.(2023-2025)ccT>ccA	p.P675P	HERC6_ENST00000264346.7_Silent_p.P711P	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	711					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAATTTGTCCTGAGTCTGGAG	0.373000													14	118					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77326204	77326204	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:77326204C>T	ENST00000334955.8	+	1	445	c.418C>T	c.(418-420)Cac>Tac	p.H140Y		NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like							nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCTCAGCCTCACCATCTCCT	0.682000													6	51					0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123087591	123087591	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:123087591G>A	ENST00000333479.7	+	48	5079	c.4902G>A	c.(4900-4902)ctG>ctA	p.L1634L	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Silent_p.L59L|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1634					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGACACTCTGTACGTGTCTA	0.363000													3	24					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27725973	27725973	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:27725973G>A	ENST00000555083.1	+	6	895	c.752G>A	c.(751-753)aGa>aAa	p.R251K	GABRG3_ENST00000333743.6_Intron	NM_001270873.1	NP_001257802.1	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	0					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCAAAAGCCAGAGAGGCCTAA	0.413000													3	23					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187541336	187541336	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:187541336A>T	ENST00000441802.2	-	10	6613	c.6404T>A	c.(6403-6405)aTt>aAt	p.I2135N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2135	Cadherin 19.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTTCAGTGAAATTTCACCCAA	0.423000										HNSCC(5;0.00058)			17	83					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64950985	64950985	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:64950985C>G	ENST00000527323.1	+	3	618	c.378C>G	c.(376-378)ctC>ctG	p.L126L	CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533129.1_Silent_p.L126L|CAPN1_ENST00000524773.1_Silent_p.L126L|CAPN1_ENST00000279247.6_Silent_p.L126L|CAPN1_ENST00000533820.1_Silent_p.L126L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	126	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCCTCACTCTCAACGACACCC	0.652000													3	97					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	403383	403383	+	Splice_Site	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:403383T>A	ENST00000256509.2	+	13	1950	c.1308T>A	c.(1306-1308)gaT>gaA	p.D436E	CHL1_ENST00000397491.2_Splice_Site_p.D420E	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	420	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCAAATAGATGTCCGTCCAT	0.353000													17	161					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112151539	112151539	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112151539A>G	ENST00000412145.1	-	17	4387	c.1834T>C	c.(1834-1836)Ttg>Ctg	p.L612L	PTPN3_ENST00000394827.3_Silent_p.L211L|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000374541.2_Silent_p.L743L|PTPN3_ENST00000262539.3_Silent_p.L589L|PTPN3_ENST00000446349.1_Silent_p.L567L	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	743					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGAGTCGTCAACATGACAATG	0.502000													9	74					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70535552	70535552	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:70535552G>T	ENST00000377844.4	-	3	1464	c.705C>A	c.(703-705)gaC>gaA	p.D235E	KLHL1_ENST00000545028.1_Missense_Mutation_p.D42E	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	235	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCGCAAAATAGTCGGAGACTG	0.443000													10	58					6.40141e-05	6.61272e-05	1	1	0
CTGF	1490	broad.mit.edu	37	6	132270442	132270442	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:132270442A>G	ENST00000367976.3	-	5	1212	c.1012T>C	c.(1012-1014)Tcg>Ccg	p.S338P		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	338	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		TAGTACAGCGATTCAAAGATG	0.453000													14	109					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321093	233321093	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:233321093G>A	ENST00000295463.3	+	2	179	c.102G>A	c.(100-102)caG>caA	p.Q34Q		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	34					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAACCGCCAGGCAGCTGAGG	0.627000													17	79					0	0	1	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107349	27107349	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:27107349G>T	ENST00000354348.2	+	1	274	c.262G>T	c.(262-264)Gtc>Ttc	p.V88F	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	88					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CATGGACGTGGTCTACGCGCT	0.602000			T	BCL6	NHL								10	88					1.05317e-09	1.13418e-09	1	1	0
CASQ1	844	broad.mit.edu	37	1	160165264	160165264	+	Missense_Mutation	SNP	C	C	G	rs141157148	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:160165264C>G	ENST00000368079.3	+	5	848	c.573C>G	c.(571-573)ttC>ttG	p.F191L	CASQ1_ENST00000368078.3_Missense_Mutation_p.F197L	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	197						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAAAGCCTTCGAGGATGCAG	0.557000													6	170					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271270	65271270	+	RNA	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:65271270G>T	ENST00000534336.1	+	0	6038					NR_002819.2																						GTAACTTTAAGGCAGGAAAGA	0.378000													5	30					1.23904e-05	1.29249e-05	1	1	0
MAN1A1	4121	broad.mit.edu	37	6	119669755	119669755	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:119669755T>C	ENST00000368468.3	-	2	917	c.476A>G	c.(475-477)cAg>cGg	p.Q159R	MAN1A1_ENST00000368466.2_Missense_Mutation_p.Q159R	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	159					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		CAGCTGGTCCTGGGCCACCTT	0.652000													9	97					0	0	1	0	0
MYO16	23026	broad.mit.edu	37	13	109672259	109672259	+	Splice_Site	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:109672259G>A	ENST00000356711.2	+	23	2856	c.2730G>A	c.(2728-2730)agG>agA	p.R910R	MYO16_ENST00000457511.2_Splice_Site_p.R422R|MYO16_ENST00000357550.2_Splice_Site_p.R910R|MYO16_ENST00000251041.5_Splice_Site_p.R910R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	910	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACGCAGGAAGGGTAAGTGGCC	0.448000													10	65					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147743712	147743712	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:147743712C>G	ENST00000370460.2	+	3	943	c.464C>G	c.(463-465)tCa>tGa	p.S155*	AFF2_ENST00000342251.3_Nonsense_Mutation_p.S151*|AFF2_ENST00000370458.1_Nonsense_Mutation_p.S151*|AFF2_ENST00000370457.5_Nonsense_Mutation_p.S151*	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	155					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACAGAAAATCAAAACCTGAG	0.463000													23	173					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96048627	96048627	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:96048627T>C	ENST00000373054.4	+	4	827	c.431T>C	c.(430-432)aTt>aCt	p.I144T	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron			O60879	DIAP2_HUMAN	diaphanous-related formin 2	149	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						tcctcacatattaggaagagg	0.448000													9	23					0	0	1	0	0
CLEC4G	339390	broad.mit.edu	37	19	7794268	7794268	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:7794268T>A	ENST00000328853.5	-	9	934	c.866A>T	c.(865-867)aAa>aTa	p.K289I		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	289						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						GTTGTGCCTTTTCTCACAGAT	0.622000													7	46					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55062817	55062817	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:55062817A>G	ENST00000262288.3	+	3	359	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	102					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					CAAACCACGGAAAACCACCTG	0.537000													4	87					0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122953891	122953891	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:122953891A>G	ENST00000448775.2	-	5	921	c.581T>C	c.(580-582)cTg>cCg	p.L194P	CLMP_ENST00000530371.1_5'UTR	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein	194	Ig-like C2-type 2.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						ATTCTGCAGCAGAACTCGTCC	0.443000													11	134					0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103390133	103390133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:103390133C>A	ENST00000299155.5	+	2	162	c.129C>A	c.(127-129)tgC>tgA	p.C43*		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	43					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGACCCCGTGCGCCGGCGGCG	0.716000													10	48					2.17888e-05	2.25958e-05	1	1	0
DSP	1832	broad.mit.edu	37	6	7586077	7586077	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:7586077C>A	ENST00000379802.3	+	24	8923	c.8582C>A	c.(8581-8583)tCc>tAc	p.S2861Y	DSP_ENST00000418664.2_Missense_Mutation_p.S2262Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2861	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACTCTTATTCCTACTCATTT	0.483000													13	172					5.3912e-06	5.66822e-06	1	1	0
ITGA2B	3674	broad.mit.edu	37	17	42462686	42462686	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:42462686A>T	ENST00000262407.5	-	5	623	c.592T>A	c.(592-594)Tgt>Agt	p.C198S	ITGA2B_ENST00000353281.4_Missense_Mutation_p.C198S|ITGA2B_ENST00000377068.3_5'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	198					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CCCGCTTCACAGTAACGCTTG	0.682000													3	27					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299392	184299392	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:184299392G>A	ENST00000330394.2	+	16	3431	c.2979G>A	c.(2977-2979)acG>acA	p.T993T	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	993						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGAACCAGACGCTGCCTGTGC	0.617000													3	29					0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49416588	49416588	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:49416588C>T	ENST00000274813.3	-	7	1512	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	462					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTAGGTATTCCCTCAGCTAC	0.333000													16	227					0	0	1	0	0
IP6K3	117283	broad.mit.edu	37	6	33690810	33690810	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:33690810C>T	ENST00000451316.1	-	7	1455	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	IP6K3_ENST00000293756.4_Missense_Mutation_p.R307Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	307					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						GAGGAGGGCCCGGAGCTGGTG	0.552000													12	54					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53636095	53636095	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:53636095C>G	ENST00000262135.4	-	25	3694	c.3601G>C	c.(3601-3603)Gat>Cat	p.D1201H	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D1247H|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.D1281H	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1281					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTCGTGCATCAAAAACTAGG	0.423000													5	56					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76330289	76330289	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:76330289A>G	ENST00000312916.7	+	2	639	c.257A>G	c.(256-258)aAt>aGt	p.N86S	AGGF1_ENST00000506806.1_Missense_Mutation_p.N86S|AGGF1_ENST00000503538.1_3'UTR	NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	86					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AATGAAGATAATAAAAAGTCT	0.343000													3	72					0	0	1	0	0
FAM98C	147965	broad.mit.edu	37	19	38896259	38896259	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:38896259G>A	ENST00000252530.5	+	6	753	c.734G>A	c.(733-735)tGg>tAg	p.W245*	FAM98C_ENST00000343358.7_Nonsense_Mutation_p.W219*|FAM98C_ENST00000588262.1_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	245										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCTTTCCACTGGAGTGACCGG	0.612000													6	71					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133887606	133887606	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:133887606G>T	ENST00000409261.1	-	6	658	c.285C>A	c.(283-285)acC>acA	p.T95T	NCKAP5_ENST00000405974.3_Silent_p.T95T|NCKAP5_ENST00000409213.1_Silent_p.T95T|NCKAP5_ENST00000317721.6_Silent_p.T95T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	95							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CAGACTCTAGGGTCACCTCCT	0.478000													5	28					0.014758	0.014898	1	1	0
LHX8	431707	broad.mit.edu	37	1	75622729	75622729	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:75622729C>T	ENST00000294638.5	+	9	1626	c.962C>T	c.(961-963)aCg>aTg	p.T321M	LHX8_ENST00000356261.3_Missense_Mutation_p.T311M	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	321						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGATGGAACGATGTTAACT	0.478000													18	84					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152185716	152185716	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152185716C>G	ENST00000368801.2	-	3	8464	c.8389G>C	c.(8389-8391)Ggt>Cgt	p.G2797R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2797					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACTATAACCAGAGGACTGT	0.537000													21	166					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66605244	66605244	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:66605244C>G	ENST00000261233.4	+	5	876	c.455C>G	c.(454-456)tCc>tGc	p.S152C	IRAK3_ENST00000457197.2_Missense_Mutation_p.S91C	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	152					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CTTAAATCTTCCATCAGCTTT	0.338000													6	47					0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	894555	894555	+	Splice_Site	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:894555A>G	ENST00000456758.2	+	17	1830		c.e17-1		SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000425407.2_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000413514.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCTTTCCTAAGACTGACTTT	0.398000													3	93					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181759626	181759626	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:181759626G>T	ENST00000526775.1	+	43	5940	c.5775G>T	c.(5773-5775)caG>caT	p.Q1925H	CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q1944H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1925H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1551H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1895H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1876H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1944H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1944					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCTCCCCAGGATATATTCC	0.493000													52	106					2.18419e-29	2.47232e-29	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62167121	62167121	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:62167121T>C	ENST00000261517.5	-	77	10441	c.10368A>G	c.(10366-10368)gcA>gcG	p.A3456A	VPS13C_ENST00000249837.3_Silent_p.A3413A|VPS13C_ENST00000395896.4_Silent_p.A3456A|VPS13C_ENST00000395898.3_Silent_p.A3413A	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3456					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTAACCCCTCTGCAAATTCTT	0.299000													45	220					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96030308	96030308	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:96030308C>G	ENST00000297954.4	+	17	3874	c.3874C>G	c.(3874-3876)Cga>Gga	p.R1292G	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000395477.2_Missense_Mutation_p.R1292G|WNK2_ENST00000349097.3_Missense_Mutation_p.R904G|WNK2_ENST00000427277.2_Missense_Mutation_p.R904G	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1292					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCAGGAGAGCCGACAATCCCA	0.587000													3	42					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30680687	30680687	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:30680687G>A	ENST00000376406.3	-	5	1679	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.V344V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	344	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCATAGGAATGACAACTGGGG	0.547000								Other conserved DNA damage response genes					18	113					0	0	1	0	0
KIF2A	3796	broad.mit.edu	37	5	61669661	61669661	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:61669661A>C	ENST00000381103.2	+	18	2219	c.1734A>C	c.(1732-1734)caA>caC	p.Q578H	KIF2A_ENST00000401507.3_Missense_Mutation_p.Q598H|KIF2A_ENST00000506857.1_Missense_Mutation_p.Q552H|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.Q636H	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	598					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTGTGAACAAAATGTGAGTG	0.383000													13	74					0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99076995	99076995	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:99076995C>T	ENST00000357310.1	+	15	2698	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	APAF1_ENST00000333991.1_Intron|APAF1_ENST00000550527.1_Silent_p.F696F|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000551964.1_Silent_p.F707F|APAF1_ENST00000359972.2_Silent_p.F696F|APAF1_ENST00000339433.3_Silent_p.F707F|APAF1_ENST00000549007.1_Silent_p.F707F|APAF1_ENST00000547045.1_Silent_p.F707F	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	707					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GCTGCCATTTCACCAACAGTA	0.383000													19	183					0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200617674	200617674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200617674C>T	ENST00000447706.2	-	7	1640	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	DDX59_ENST00000367348.3_Missense_Mutation_p.E497K|DDX59_ENST00000331314.6_Missense_Mutation_p.E497K			Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	497	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACTACAACTTCATAGTCTCCT	0.363000													10	235					0	0	1	0	0
C12orf77	196415	broad.mit.edu	37	12	25148970	25148970	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:25148970G>C	ENST00000549828.1	-	3	382	c.178C>G	c.(178-180)Cta>Gta	p.L60V	C12orf77_ENST00000434912.3_Missense_Mutation_p.L5V|C12orf77_ENST00000549262.1_Missense_Mutation_p.L5V	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	60										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						CCAGTGGGTAGAGAACCCGGC	0.458000													5	42					0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1058041	1058041	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:1058041G>C	ENST00000263094.6	+	36	5239	c.5008G>C	c.(5008-5010)Gag>Cag	p.E1670Q	ABCA7_ENST00000433129.1_Missense_Mutation_p.E1670Q|ABCA7_ENST00000435683.2_Missense_Mutation_p.E1532Q	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1670					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)		CTTTGTGCTTGAGCTCTTCTC	0.572000													8	93					0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37733704	37733704	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:37733704A>C	ENST00000589413.1	+	8	1149	c.566A>C	c.(565-567)cAg>cCg	p.Q189P	ZNF383_ENST00000352998.3_Missense_Mutation_p.Q189P|ZNF383_ENST00000590503.1_Missense_Mutation_p.Q189P			Q8NA42	ZN383_HUMAN	zinc finger protein 383	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCAACATCAGAGAATTCAT	0.338000													4	49					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51865155	51865155	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:51865155T>C	ENST00000453097.2	+	14	1960	c.1743T>C	c.(1741-1743)gaT>gaC	p.D581D	SLC4A8_ENST00000394856.1_Silent_p.D528D|SLC4A8_ENST00000514353.3_Silent_p.D528D|SLC4A8_ENST00000358657.3_Silent_p.D608D|SLC4A8_ENST00000535225.2_Silent_p.D528D|SLC4A8_ENST00000546663.1_3'UTR	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	581					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TGGCAACTGATGCCAGTTCCC	0.428000													31	146					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876351	42876351	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:42876351A>G	ENST00000025301.2	+	8	3644	c.3469A>G	c.(3469-3471)Ata>Gta	p.I1157V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1157					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		ACAAAATACTATAGAAAAAGA	0.423000													5	115					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26647234	26647234	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:26647234G>A	ENST00000381340.3	-	39	5638	c.5222C>T	c.(5221-5223)tCa>tTa	p.S1741L		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1741					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCTGACATTGATATCCCCAT	0.338000													13	53					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103055726	103055726	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:103055726A>G	ENST00000375735.2	+	41	6723	c.6579A>G	c.(6577-6579)atA>atG	p.I2193M	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.I2193M	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2193					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAATCTCATAAGGGGACTTG	0.348000													20	53					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51824704	51824704	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:51824704T>A	ENST00000371117.3	-	36	6147	c.5872A>T	c.(5872-5874)Act>Tct	p.T1958S	PKHD1_ENST00000340994.4_Missense_Mutation_p.T1958S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1958	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGTGTTAGTGTCCAGCAGA	0.463000											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	210					0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62007656	62007656	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:62007656C>T	ENST00000006750.3	-	3	300	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Missense_Mutation_p.A71T	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	70	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TTGCCGGAGGCGCTGTTCATG	0.572000			"""Mis, O"""		DLBCL								5	58					0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129043216	129043216	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:129043216G>C	ENST00000326639.6	+	11	1608	c.1397G>C	c.(1396-1398)cGa>cCa	p.R466P	LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.R466P|LARP1B_ENST00000441387.1_Missense_Mutation_p.R466P|LARP1B_ENST00000427266.1_Missense_Mutation_p.R466P|LARP1B_ENST00000264584.5_Missense_Mutation_p.R419P	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	466							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGAGGAGATCGAACAGGCACC	0.368000													19	114					0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18898425	18898425	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:18898425C>T	ENST00000542601.2	-	9	1300	c.911G>A	c.(910-912)cGc>cAc	p.R304H	COMP_ENST00000425807.1_Missense_Mutation_p.R284H|COMP_ENST00000222271.2_Missense_Mutation_p.R337H			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	337					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCCGTGTTGCGCTGGTCTGG	0.612000													21	160					0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	96998956	96998956	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:96998956T>C	ENST00000216277.8	+	9	1026	c.806T>C	c.(805-807)gTa>gCa	p.V269A	PAPOLA_ENST00000392990.2_Missense_Mutation_p.V269A|PAPOLA_ENST00000557320.1_Missense_Mutation_p.V269A	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	269					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCAACTCTTGTACATAAATTT	0.313000													5	61					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229444	39229444	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:39229444G>C	ENST00000340369.3	-	2	1721	c.1493C>G	c.(1492-1494)tCt>tGt	p.S498C	XIRP1_ENST00000396251.1_Missense_Mutation_p.S498C|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	498							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)		TCTGCTAACAGAGGTCAGGGC	0.592000													8	167					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255678	77255678	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:77255678G>A	ENST00000251089.2	-	10	2018	c.1906C>T	c.(1906-1908)Ctc>Ttc	p.L636F	ANGEL1_ENST00000557179.1_Missense_Mutation_p.L201F	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	636										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TCTTCAGAGAGAAGGGAGAGA	0.562000													14	169					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	RNA	SNP	T	T	C	rs79284655		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:32890639T>C	ENST00000330048.5	-	0	3159					NR_003083.2																						ACCAGCGGCTTGTAGTACACA	0.627000													4	53					0	0	1	0	0
SLC9A3	6550	broad.mit.edu	37	5	482240	482240	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:482240C>T	ENST00000264938.3	-	8	1398	c.1389G>A	c.(1387-1389)ctG>ctA	p.L463L	SLC9A3_ENST00000514375.1_Silent_p.L454L	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	463						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TCTTCACCTTCAGCCACTGCA	0.701000													9	49					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292043	62292043	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292043C>G	ENST00000378024.4	-	5	10120	c.9846G>C	c.(9844-9846)aaG>aaC	p.K3282N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3282					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGGCATCTTCAGTTTTG	0.428000													6	121					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62292797	62292797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:62292797C>G	ENST00000378024.4	-	5	9366	c.9092G>C	c.(9091-9093)aGc>aCc	p.S3031T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3031					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCAGGCATGCTGAATTTGGG	0.532000													30	424					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516772	158516772	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:158516772A>G	ENST00000355585.4	+	27	3942	c.3867A>G	c.(3865-3867)ccA>ccG	p.P1289P	SYNJ2_ENST00000367122.2_Silent_p.P1244P|SYNJ2_ENST00000367112.1_Silent_p.P374P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1289	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCCAAACCAAGAACATTTC	0.597000													10	52					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202743773	202743773	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:202743773T>C	ENST00000367265.3	-	3	1537	c.373A>G	c.(373-375)Agg>Ggg	p.R125G	KDM5B_ENST00000367264.2_Missense_Mutation_p.R125G	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	125	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGATCTTCCTCTCCACATGT	0.358000													17	68					0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10705093	10705093	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:10705093T>C	ENST00000377022.3	-	18	4066	c.3749A>G	c.(3748-3750)tAt>tGt	p.Y1250C	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCACAAAATAGCAGCCGGT	0.592000													27	205					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117696896	117696896	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:117696896G>C	ENST00000317775.6	-	15	3092	c.2407C>G	c.(2407-2409)Cat>Gat	p.H803D	NOS1_ENST00000338101.4_Missense_Mutation_p.H803D|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	803	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGAGTTTCATGTTCCAGGTGC	0.507000													9	102					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39446912	39446912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:39446912C>T	ENST00000280481.7	+	17	8233	c.8017C>T	c.(8017-8019)Cga>Tga	p.R2673*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2673					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGTGACCCTTCGAGTCCCTCT	0.438000													21	91					0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48015279	48015279	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:48015279A>G	ENST00000258774.5	-	5	494	c.471T>C	c.(469-471)agT>agC	p.S157S	HUS1_ENST00000432325.1_Silent_p.S136S	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	157					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GTAAATAAATACTAACCTACA	0.318000								Direct reversal of damage;Other conserved DNA damage response genes					6	32					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746503	77746503	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:77746503C>G	ENST00000409088.3	-	3	906	c.492G>C	c.(490-492)ttG>ttC	p.L164F	LRRTM4_ENST00000409884.1_Missense_Mutation_p.L164F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.L165F|LRRTM4_ENST00000409282.1_Missense_Mutation_p.L165F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.L164F	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	164						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGTTAGATCTCAAGTGCAAAA	0.413000													8	80					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200821690	200821690	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:200821690G>C	ENST00000358823.2	+	12	3757	c.3487G>C	c.(3487-3489)Gat>Cat	p.D1163H	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.D1147H|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.D1174H	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1174						cytoplasm|microtubule	protein binding										AGCAGAAAATGATATGGCAAT	0.353000													5	122					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	431654	431654	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:431654C>T	ENST00000399788.2	-	17	2717	c.2355G>A	c.(2353-2355)agG>agA	p.R785R	KDM5A_ENST00000382815.4_Silent_p.R785R	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	785					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TTACAGCATCCCTGAGTTTTC	0.393000			T	NUP98	AML								16	143					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123122253	123122253	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:123122253C>T	ENST00000264501.4	+	15	1843	c.1470C>T	c.(1468-1470)ttC>ttT	p.F490F	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.F490F|KIAA1109_ENST00000388738.3_Silent_p.F490F			Q2LD37	K1109_HUMAN	KIAA1109	490					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.F490F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTACCACTTCATCTTTGCAC	0.358000													4	72					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179635334	179635334	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:179635334C>G	ENST00000589042.1	-	35	8409	c.8185G>C	c.(8185-8187)Gag>Cag	p.E2729Q	TTN_ENST00000460472.2_Missense_Mutation_p.E2683Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.E2729Q|TTN_ENST00000359218.5_Missense_Mutation_p.E2683Q|TTN_ENST00000591111.1_Missense_Mutation_p.E2729Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2729Q|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E2683Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGTAAGCTCGACAGTGAAA	0.378000													16	136					0	0	1	0	0
LOC148709	148709	broad.mit.edu	37	1	202842810	202842810	+	RNA	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:202842810G>T	ENST00000456105.2	+	0	762					NR_002929.2																						CCCCAGCAAGGTACACAGCCA	0.577000													15	52					6.49762e-13	7.08347e-13	1	1	0
GLUD1P7	414212	broad.mit.edu	37	10	48968566	48968566	+	RNA	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:48968566A>G	ENST00000594520.1	+	0	723																											ACAGGATAACAAACTGGAAAA	0.318000													4	43					0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172017833	172017833	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:172017833G>C	ENST00000358155.4	+	10	1454	c.1278G>C	c.(1276-1278)aaG>aaC	p.K426N	DNM3_ENST00000367733.2_Missense_Mutation_p.K426N|DNM3_ENST00000355305.5_Missense_Mutation_p.K426N|DNM3_ENST00000520906.1_Missense_Mutation_p.K426N|DNM3_ENST00000367731.1_Missense_Mutation_p.K426N	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	426					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTTCCTTGAAGAGTGTGGATC	0.383000													7	150					0	0	1	0	0
MTDH	92140	broad.mit.edu	37	8	98703239	98703239	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:98703239G>C	ENST00000336273.3	+	6	1199	c.871G>C	c.(871-873)Gta>Cta	p.V291L	MTDH_ENST00000519934.1_Missense_Mutation_p.V268L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	291					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TGAAAAGTCTGTAAAACTCTC	0.418000													6	60					0	0	1	0	0
DDN	23109	broad.mit.edu	37	12	49390950	49390950	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:49390950T>C	ENST00000421952.2	-	2	1730	c.1709A>G	c.(1708-1710)cAc>cGc	p.H570R		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	570	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAAGGCTTGGTGCTCTGGGCT	0.726000													11	100					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470565	161470565	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:161470565G>C	ENST00000392142.4	+	3	1409	c.1261G>C	c.(1261-1263)Gac>Cac	p.D421H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D421H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D421H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D421H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	421					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)		GAATTTATCAGACATTGGCTG	0.438000													8	71					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142226809	142226809	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:142226809C>T	ENST00000350721.4	-	28	5116	c.4995G>A	c.(4993-4995)aaG>aaA	p.K1665K	ATR_ENST00000383101.3_Silent_p.K1601K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1665	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATTTTGCTTCTTTTCTGTAA	0.348000								Other conserved DNA damage response genes					8	48					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108355537	108355537	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:108355537T>G	ENST00000361582.3	+	11	1223	c.993T>G	c.(991-993)ccT>ccG	p.P331P	DZIP3_ENST00000463306.1_Silent_p.P331P	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	331					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTGATGTACCTGGAATTGTTA	0.318000													28	169					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51171247	51171247	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:51171247C>T	ENST00000440970.1	-	3	3891	c.3460G>A	c.(3460-3462)Gag>Aag	p.E1154K	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.E74K|SALL1_ENST00000251020.4_Missense_Mutation_p.E1251K	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1251					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACGGAGATCTCGTTGGCCTTC	0.572000													10	81					0	0	1	0	0
BORA	79866	broad.mit.edu	37	13	73305498	73305498	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:73305498G>C	ENST00000390667.5	+	3	330	c.233G>C	c.(232-234)cGt>cCt	p.R78P	BORA_ENST00000464754.1_3'UTR|BORA_ENST00000377815.3_Intron	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	78					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding										GATATTCATCGTCAAGCTTTA	0.353000													5	95					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975225	20975225	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:20975225A>G	ENST00000261383.3	-	53	9980	c.9981T>C	c.(9979-9981)aaT>aaC	p.N3327N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3327					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCATGTAGAGATTTATGAACC	0.488000													10	127					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46480933	46480933	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:46480933C>T	ENST00000231751.4	-	15	2057	c.1762G>A	c.(1762-1764)Gca>Aca	p.A588T	LTF_ENST00000417439.1_Missense_Mutation_p.A586T|LTF_ENST00000426532.2_Missense_Mutation_p.A544T|LTF_ENST00000493056.1_5'UTR	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	588	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GCAAAGTCTGCCAGCTTCAAA	0.542000													10	48					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787429	135787429	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:135787429T>C	ENST00000367800.4	-	5	488	c.272A>G	c.(271-273)aAg>aGg	p.K91R	AHI1_ENST00000457866.2_Missense_Mutation_p.K91R|AHI1_ENST00000327035.6_Missense_Mutation_p.K91R	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	91						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGTGCTCTTCTTCAGGTTGTT	0.393000													27	229					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130174321	130174321	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:130174321G>C	ENST00000265379.6	+	37	7095	c.6601G>C	c.(6601-6603)Gat>Cat	p.D2201H	COL6A5_ENST00000432398.2_Missense_Mutation_p.D2201H			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2201	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCTACAAGAGGATTTTTTGGG	0.343000													3	39					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42157356	42157356	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:42157356A>G	ENST00000444063.1	+	5	784	c.652A>G	c.(652-654)Att>Gtt	p.I218V	L3MBTL1_ENST00000418998.1_Missense_Mutation_p.I286V|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.I218V|L3MBTL1_ENST00000427442.2_Missense_Mutation_p.I286V|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.I218V			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	218					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCAGAAGGCCATTACTGCTCC	0.557000													12	84					0	0	1	0	0
MTX2	10651	broad.mit.edu	37	2	177161616	177161616	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:177161616A>G	ENST00000392529.2	+	3	444	c.39A>G	c.(37-39)acA>acG	p.T13T	MTX2_ENST00000443241.1_Intron|MTX2_ENST00000249442.6_Silent_p.T23T			O75431	MTX2_HUMAN	metaxin 2	23					protein targeting to mitochondrion	mitochondrial outer membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.00365)|Epithelial(96;0.0654)|all cancers(119;0.181)			AAAATGCTACATTATATCAGC	0.313000													21	150					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407279	75407279	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:75407279G>C	ENST00000394810.2	-	4	2280	c.2131C>G	c.(2131-2133)Ccc>Gcc	p.P711A	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P487A	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	711	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGGGTCTTGGGAGCCATTGGA	0.627000													31	133					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34457364	34457364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:34457364G>T	ENST00000439301.1	+	8	859	c.748G>T	c.(748-750)Gga>Tga	p.G250*	PHF20_ENST00000374012.3_Silent_p.V271V|PHF20_ENST00000481202.1_3'UTR	NM_016436.4	NP_057520.2	Q9BVI0	PHF20_HUMAN	PHD finger protein 20	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGGTAGCTGTGGATTCAAACT	0.303000													14	68					3.27435e-08	3.48391e-08	1	1	0
IRX6	79190	broad.mit.edu	37	16	55360337	55360337	+	Silent	SNP	C	C	G	rs139857215	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:55360337C>G	ENST00000290552.7	+	2	1467	c.135C>G	c.(133-135)ccC>ccG	p.P45P	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCCCAGCGCCCGCTCTCTGCT	0.637000													7	61					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24135280	24135280	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:24135280T>C	ENST00000303531.7	+	9	1195	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	PRKCB_ENST00000321728.7_Missense_Mutation_p.L348P	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	348	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTAATGGTGCTGGGGAAAGGC	0.468000													5	166					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152536298	152536298	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:152536298A>G	ENST00000397345.3	-	32	3394	c.3192T>C	c.(3190-3192)taT>taC	p.Y1064Y	NEB_ENST00000427231.2_Silent_p.Y1064Y|NEB_ENST00000409198.1_Silent_p.Y1064Y|NEB_ENST00000172853.10_Silent_p.Y1064Y|NEB_ENST00000604864.1_Silent_p.Y1064Y|NEB_ENST00000603639.1_Silent_p.Y1064Y	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1064					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCTCAGGTCATATCCCTTCT	0.443000													10	117					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28828806	28828806	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:28828806G>T	ENST00000422425.2	+	41	3059	c.3015G>T	c.(3013-3015)tgG>tgT	p.W1005C	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Missense_Mutation_p.W1016C	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1016	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGCCCTTTGGACCAATATGG	0.522000													24	185					6.12954e-19	6.83629e-19	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40366268	40366268	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:40366268G>C	ENST00000221347.6	-	30	13973	c.13966C>G	c.(13966-13968)Cca>Gca	p.P4656A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4656	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCTGCTCTGGGGTGCACGGC	0.741000													5	88					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47746494	47746494	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:47746494G>A	ENST00000273857.4	-	5	723	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	CORIN_ENST00000505909.1_Nonsense_Mutation_p.Q242*|CORIN_ENST00000502252.1_Nonsense_Mutation_p.Q175*|CORIN_ENST00000504584.1_Nonsense_Mutation_p.Q242*|CORIN_ENST00000508498.1_Nonsense_Mutation_p.Q103*	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	242	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTCTAAACTGGGAGCATCTG	0.473000													11	335					0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10524885	10524885	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:10524885T>G	ENST00000396560.2	+	3	635	c.408T>G	c.(406-408)gaT>gaG	p.D136E	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.D136E|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.D136E|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.D136E	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGGCAAAAGATTCACTGAACA	0.413000													27	103					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79960014	79960014	+	Silent	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:79960014C>G	ENST00000360280.3	+	52	7505	c.7245C>G	c.(7243-7245)ctC>ctG	p.L2415L	VPS13A_ENST00000357409.5_Silent_p.L2415L|VPS13A_ENST00000376634.4_Silent_p.L2415L|VPS13A_ENST00000376636.3_Silent_p.L2376L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2415					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTACATTCCTCTTAATAAATC	0.343000													14	131					0	0	1	0	0
TEAD1	7003	broad.mit.edu	37	11	12901332	12901332	+	Silent	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:12901332T>A	ENST00000361905.4	+	6	1028	c.363T>A	c.(361-363)atT>atA	p.I121I	TEAD1_ENST00000527636.1_Silent_p.I136I|TEAD1_ENST00000361985.2_Silent_p.I136I|TEAD1_ENST00000334310.6_Silent_p.I125I|TEAD1_ENST00000526600.1_Silent_p.I40I|TEAD1_ENST00000527575.1_Silent_p.I136I	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	136					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACTGCCATTCATAACAAGC	0.597000													5	106					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424441	125424441	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:125424441C>A	ENST00000373686.1	+	1	597	c.597C>A	c.(595-597)ttC>ttA	p.F199L	OR1L1_ENST00000309623.1_Missense_Mutation_p.F149L			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTCTCTCCTTCTGCATTCCAC	0.463000													51	373					6.4685e-43	7.3374e-43	1	1	0
SCRG1	11341	broad.mit.edu	37	4	174312370	174312370	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:174312370C>T	ENST00000296506.3	-	2	678	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_007281.2	NP_009212.1	O75711	SCRG1_HUMAN	stimulator of chondrogenesis 1						nervous system development	extracellular space				large_intestine(1)|lung(4)|skin(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		CAGATCATCTCACATCCCTTC	0.438000													11	228					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757342	74757342	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:74757342C>T	ENST00000258080.3	+	1	839	c.209C>T	c.(208-210)gCa>gTa	p.A70V	HTRA2_ENST00000352222.3_Missense_Mutation_p.A70V|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	70					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GAACCCCGAGCATGCCTGACG	0.657000													4	14					0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242662468	242662468	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:242662468G>A	ENST00000313552.6	+	6	623	c.597G>A	c.(595-597)atG>atA	p.M199I	ING5_ENST00000406941.1_Missense_Mutation_p.M199I	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	199					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		ATGGGGAGATGATTGGCTGTG	0.602000													5	82					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112189306	112189306	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:112189306G>A	ENST00000412145.1	-	7	3085	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	PTPN3_ENST00000374541.2_Nonsense_Mutation_p.Q309*|PTPN3_ENST00000262539.3_Nonsense_Mutation_p.Q200*|PTPN3_ENST00000446349.1_Nonsense_Mutation_p.Q178*	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	309	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTCTTTGCCTGAAAGAACGTA	0.448000													6	104					0	0	1	0	0
UFM1	51569	broad.mit.edu	37	13	38924164	38924164	+	Translation_Start_Site	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:38924164A>T	ENST00000379649.1	+	0	100				UFM1_ENST00000239878.4_Missense_Mutation_p.T11S			P61960	UFM1_HUMAN	ubiquitin-fold modifier 1						protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		GATCACGCTGACGTCGGACCC	0.582000													19	126					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174651	63174651	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:63174651C>G	ENST00000322893.7	-	11	2810	c.2542G>C	c.(2542-2544)Gat>Cat	p.D848H	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	848					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCTCTGAATCACTGCTCTTG	0.438000													12	117					0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163550	141163550	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:141163550A>G	ENST00000514251.1	+	4	2599	c.2320A>G	c.(2320-2322)Att>Gtt	p.I774V	ZBTB38_ENST00000321464.5_Missense_Mutation_p.I775V|ZBTB38_ENST00000441582.2_Missense_Mutation_p.I774V			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	774					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACCCAAAAGCATTAAGGAGAA	0.468000													6	39					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401134	89401134	+	Missense_Mutation	SNP	T	T	C	rs147886342	by1000genomes	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:89401134T>C	ENST00000439576.2	+	12	5692	c.5318T>C	c.(5317-5319)cTt>cCt	p.L1773P	ACAN_ENST00000559004.1_Missense_Mutation_p.L1773P|ACAN_ENST00000561243.1_Missense_Mutation_p.L1773P|ACAN_ENST00000352105.7_Missense_Mutation_p.L1773P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1773					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTGGAGTTCTTTATGGCACT	0.512000													3	50					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88055794	88055794	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:88055794T>C	ENST00000307808.6	+	19	3879	c.3459T>C	c.(3457-3459)ctT>ctC	p.L1153L	AFF1_ENST00000544085.1_Silent_p.L792L|AFF1_ENST00000395146.4_Silent_p.L1161L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	1153						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCATGTTCTTACCGCCTTTG	0.512000													4	218					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22314027	22314027	+	Missense_Mutation	SNP	C	C	T	rs138357708		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:22314027C>T	ENST00000398793.2	-	15	2170	c.1736G>A	c.(1735-1737)cGc>cAc	p.R579H	TOP3B_ENST00000413067.2_3'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.R579H	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	579					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CAGGACCTGGCGGTAGTCGGC	0.622000													20	211					0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2221250	2221250	+	Silent	SNP	A	A	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:2221250A>C	ENST00000344595.5	+	3	573	c.255A>C	c.(253-255)ggA>ggC	p.G85G	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	85					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACAGCAGTGGAAACCATGGCC	0.468000													22	104					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41347486	41347486	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:41347486T>A	ENST00000361937.3	-	18	2571	c.2147A>T	c.(2146-2148)gAc>gTc	p.D716V	INO80_ENST00000401393.3_Missense_Mutation_p.D716V			Q9ULG1	INO80_HUMAN	INO80 complex subunit	716	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCTCTCAATGTCCTTGGAAAA	0.378000													16	76					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302814	123302814	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:123302814T>C	ENST00000458573.2	+	2	1331	c.1174T>C	c.(1174-1176)Tct>Cct	p.S392P	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	392	Pro-rich.					cytoskeleton	actin binding|tropomyosin binding										ACCTTATGTATCTCCCAGGCA	0.537000													13	90					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51750145	51750145	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:51750145G>A	ENST00000395052.3	+	4	2590	c.2356G>A	c.(2356-2358)Gac>Aac	p.D786N	GRM2_ENST00000442933.2_Missense_Mutation_p.D508N|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	786					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CACCTCCAGTGACTACCGGGT	0.532000													4	68					0	0	1	0	0
TPM3	7170	broad.mit.edu	37	1	154141837	154141837	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:154141837C>T	ENST00000328159.4	-	8	686	c.687G>A	c.(685-687)ctG>ctA	p.L229L	TPM3_ENST00000368533.3_Intron|TPM3_ENST00000341485.5_Intron|TPM3_ENST00000330188.9_Intron|TPM3_ENST00000323144.7_Intron|TPM3_ENST00000469717.1_Intron|TPM3_ENST00000271850.7_Intron|TPM3_ENST00000302206.5_Intron|TPM3_ENST00000341372.3_Intron|TPM3_ENST00000368531.2_Intron|TPM3_ENST00000368530.2_Silent_p.L266L			P06753	TPM3_HUMAN	tropomyosin 3	265					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTTGTACTTCAGTTTCTGGG	0.517000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								8	131					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57103764	57103764	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:57103764G>T	ENST00000436936.1	+	37	4805	c.4580G>T	c.(4579-4581)tGt>tTt	p.C1527F	NLRC5_ENST00000262510.6_Missense_Mutation_p.V1506L|NLRC5_ENST00000308149.7_Missense_Mutation_p.V1477L|NLRC5_ENST00000539144.1_Missense_Mutation_p.V1477L			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	0					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTCCAGCTGTGTGAGCACCGA	0.637000													5	20					0.000274275	0.000281688	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13901509	13901509	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:13901509T>C	ENST00000265104.4	-	14	2008	c.1904A>G	c.(1903-1905)cAt>cGt	p.H635R		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	635	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGAATCCTATGGAAGAGCTG	0.507000									Kartagener syndrome				6	39					0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45802460	45802460	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:45802460C>T	ENST00000357450.4	-	4	495	c.496G>A	c.(496-498)Gga>Aga	p.G166R	SMC1B_ENST00000404354.3_Missense_Mutation_p.G166R	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	166					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATATTCTCCTATAAGCTCT	0.363000													5	57					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73812092	73812092	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:73812092G>A	ENST00000332687.6	-	4	1276	c.1058C>T	c.(1057-1059)aCt>aTt	p.T353I	RLIM_ENST00000349225.2_Missense_Mutation_p.T353I	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	353					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATAGGTGACAGTGTTGTTTGG	0.468000													14	44					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433004	49433004	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:49433004C>A	ENST00000301067.7	-	33	8366		c.e33+1			NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.?(2)									TGGAGCCTCACCGGCTGTTCA	0.562000													27	143					9.8876e-21	1.10741e-20	1	1	0
PLEKHG1	57480	broad.mit.edu	37	6	151152027	151152027	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:151152027G>A	ENST00000367328.1	+	16	2092	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.E594K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	594					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGGACAGATGGAGTCCACAGA	0.532000													7	131					0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197427591	197427591	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:197427591C>T	ENST00000273582.5	-	7	1519	c.974G>A	c.(973-975)cGc>cAc	p.R325H	KIAA0226_ENST00000296343.5_Missense_Mutation_p.R385H|KIAA0226_ENST00000449205.1_Missense_Mutation_p.R385H|KIAA0226_ENST00000389665.5_Missense_Mutation_p.R385H	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	385	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GCTGGACCTGCGGAGGACACT	0.577000													22	85					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82451794	82451794	+	Nonstop_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:82451794T>G	ENST00000423517.2	-	20	15145	c.14808A>C	c.(14806-14808)taA>taC	p.*4936Y	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.9_Intron	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	0	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCTGAGGAATTTATTTGCGTC	0.498000													11	151					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7044769	7044769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:7044769G>A	ENST00000389658.3	-	7	1021	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	310	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGGCTGCTGATGGTACCCA	0.478000													28	176					0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915949	46915949	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:46915949C>A	ENST00000307522.3	-	1	892	c.119G>T	c.(118-120)cGg>cTg	p.R40L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	40						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctgggtcagccgctcccgaaa	0.647000													10	107					5.50884e-06	5.78048e-06	1	1	0
FAM154B	283726	broad.mit.edu	37	15	82575106	82575106	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:82575106T>C	ENST00000339465.5	+	3	969	c.900T>C	c.(898-900)atT>atC	p.I300I	FAM154B_ENST00000565501.1_3'UTR|FAM154B_ENST00000427381.2_Silent_p.I285I	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	300										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AAGGACTTATTAAGAAGCAGC	0.398000													16	74					0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74422031	74422031	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:74422031G>C	ENST00000376332.3	-	4	791	c.295C>G	c.(295-297)Cac>Gac	p.H99D	CHRDL2_ENST00000263671.5_Missense_Mutation_p.H99D|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	99					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GAGGGAGTGTGAGGTTCTGCA	0.517000													7	54					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640674	34640674	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:34640674C>T	ENST00000537011.1	+	3	987	c.605C>T	c.(604-606)cCc>cTc	p.P202L	NUTM1_ENST00000333756.4_Missense_Mutation_p.P174L|NUTM1_ENST00000438749.3_Missense_Mutation_p.P192L	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		CCCATTGTGCCCCTGGAAAAA	0.597000													3	26					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22836772	22836772	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:22836772G>C	ENST00000456783.2	+	3	329	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAGGAAAAGAACCTTGGAA	0.423000													7	160					0	0	1	0	0
TMPO	7112	broad.mit.edu	37	12	98926631	98926631	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:98926631C>G	ENST00000266732.4	+	4	834	c.596C>G	c.(595-597)tCc>tGc	p.S199C	TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAAGTGAAGTCCACTAGGGAT	0.413000													8	162					0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130691967	130691967	+	Splice_Site	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:130691967C>A	ENST00000388747.4	-	2	272	c.228G>T	c.(226-228)acG>acT	p.T76T		NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	76	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GGCCACTCACCGTGGGTGGGT	0.602000													4	17					0.217242	0.217242	1	1	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651116	84651116	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:84651116G>T	ENST00000286744.5	+	21	2960	c.2736G>T	c.(2734-2736)aaG>aaT	p.K912N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.K912N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	912	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAAGAGAAGCGTATTAACC	0.468000													8	99					0.000157383	0.00016195	1	1	0
PTPRR	5801	broad.mit.edu	37	12	71139613	71139613	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:71139613A>G	ENST00000283228.2	-	6	1444	c.992T>C	c.(991-993)aTa>aCa	p.I331T	PTPRR_ENST00000549308.1_Missense_Mutation_p.I86T|PTPRR_ENST00000378778.1_Missense_Mutation_p.I125T|PTPRR_ENST00000342084.4_Missense_Mutation_p.I219T|PTPRR_ENST00000440835.2_Missense_Mutation_p.I86T	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	331					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TTGAAGTCCTATGGGCTTCAT	0.423000													5	49					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24588376	24588376	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:24588376G>C	ENST00000446197.3	+	9	1529	c.802G>C	c.(802-804)Gtc>Ctc	p.V268L	DCAF11_ENST00000396936.1_Missense_Mutation_p.V168L|DCAF11_ENST00000396941.4_Missense_Mutation_p.V242L|DCAF11_ENST00000559115.1_Missense_Mutation_p.V268L	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	268						CUL4 RING ubiquitin ligase complex	protein binding										TCGCTTTGCTGTCTTCTCCAT	0.463000													17	155					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33593524	33593524	+	Missense_Mutation	SNP	C	C	T	rs143166417	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:33593524C>T	ENST00000252015.2	-	16	1999	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R598Q|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R629Q|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R239Q			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	637					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTTTTCAAATCGGTCCAGGGA	0.507000													13	108					0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17395638	17395638	+	Silent	SNP	G	G	A	rs61731909		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:17395638G>A	ENST00000375486.4	-	16	1962	c.1899C>T	c.(1897-1899)gaC>gaT	p.D633D	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Silent_p.D517D	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	633					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CAGAAATGTCGTCGATGAAGG	0.597000													19	173					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29049227	29049227	+	Silent	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr18:29049227T>G	ENST00000257189.4	+	12	1895	c.1812T>G	c.(1810-1812)ccT>ccG	p.P604P		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	604					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)			CCACAAGCCCTGGGACCAGGT	0.592000													7	91					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100617587	100617587	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:100617587T>G	ENST00000308731.7	-	6	645	c.482A>C	c.(481-483)aAt>aCt	p.N161T	BTK_ENST00000372880.1_Missense_Mutation_p.N161T	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	161					calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GCCCATAGCATTTTTGGCTGT	0.448000									Agammaglobulinemia, X-linked				46	84					0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96370219	96370219	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:96370219G>A	ENST00000261208.3	-	20	2189	c.1821C>T	c.(1819-1821)ctC>ctT	p.L607L	HAL_ENST00000538703.1_Intron|HAL_ENST00000541929.1_Silent_p.L399L	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	607					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCTGCTCCAGGAGCAGCCTGT	0.507000													19	96					0	0	1	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138198260	138198260	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:138198260G>A	ENST00000237289.4	+	6	919	c.853G>A	c.(853-855)Gac>Aac	p.D285N	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	285	TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AAGATTTGAAGACTTAAAAGT	0.373000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								11	98					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3746382	3746382	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:3746382C>T	ENST00000324932.7	-	15	2218	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	NUP98_ENST00000397007.4_Missense_Mutation_p.D617N|NUP98_ENST00000397004.4_Missense_Mutation_p.D600N|NUP98_ENST00000355260.3_Missense_Mutation_p.D600N|NUP98_ENST00000359171.4_Missense_Mutation_p.D600N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	617					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTTCTGAATCACGATTAACA	0.328000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								7	57					0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119720941	119720941	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:119720941T>C	ENST00000264235.8	-	2	1216	c.234A>G	c.(232-234)tcA>tcG	p.S78S	GSK3B_ENST00000316626.5_Silent_p.S78S	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	78	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CCAGTTCTCCTGAATCACAAA	0.398000													42	224					0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90894816	90894816	+	Silent	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:90894816C>T	ENST00000287934.2	+	1	1034	c.621C>T	c.(619-621)ttC>ttT	p.F207F		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	207	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			AGTTCGGCTTCCAGTGGCCAG	0.701000													15	75					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753928	123753928	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr11:123753928T>C	ENST00000375026.2	-	4	811	c.595A>G	c.(595-597)Atg>Gtg	p.M199V		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	199						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						CTACGAGGCATTGCAGTGCAT	0.418000													3	83					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101882763	101882763	+	Silent	SNP	G	G	T	rs140169027		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr7:101882763G>T	ENST00000360264.3	+	23	3839	c.3819G>T	c.(3817-3819)gcG>gcT	p.A1273A	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000550008.2_Silent_p.A1206A|CUX1_ENST00000546411.2_Silent_p.A1160A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.A1240A|CUX1_ENST00000292535.7_Silent_p.A1262A|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.A1104A	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1262					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAAACGAGCGTATCAGCAAA	0.597000													28	87					2.61193e-14	2.85915e-14	1	1	0
FAM65A	79567	broad.mit.edu	37	16	67576933	67576933	+	Silent	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:67576933G>T	ENST00000540839.3	+	14	2524	c.2304G>T	c.(2302-2304)acG>acT	p.T768T	FAM65A_ENST00000422602.2_Silent_p.T768T|FAM65A_ENST00000042381.4_Silent_p.T748T|FAM65A_ENST00000379312.3_Silent_p.T752T|FAM65A_ENST00000428437.2_Silent_p.T762T			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	752						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGAGTCTACGGTTCAGAGTC	0.622000													48	187					3.4597e-24	3.89949e-24	1	1	0
ZNF343	79175	broad.mit.edu	37	20	2463828	2463828	+	Silent	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr20:2463828G>A	ENST00000278772.4	-	6	2266	c.1779C>T	c.(1777-1779)atC>atT	p.I593I	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCTGGTGTCTGATGAGATTTG	0.507000													9	75					0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806548	33806548	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:33806548G>C	ENST00000260908.7	-	2	798	c.681C>G	c.(679-681)ttC>ttG	p.F227L	SLFN12L_ENST00000449046.1_Missense_Mutation_p.F258L|SLFN12L_ENST00000361112.4_Missense_Mutation_p.F256L	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	259						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTTCAGTCGAGAAGTTTTTTA	0.343000													5	65					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452557	138452557	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:138452557G>A	ENST00000344876.4	-	1	1072	c.686C>T	c.(685-687)tCa>tTa	p.S229L	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S9L|PCDH18_ENST00000412923.2_Missense_Mutation_p.S229L|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	229	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAGTATGGATGAGCCAGACCT	0.463000													6	85					0	0	1	0	0
ZNF576	79177	broad.mit.edu	37	19	44103069	44103069	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:44103069C>G	ENST00000336564.4	+	3	326	c.172C>G	c.(172-174)Cca>Gca	p.P58A	ZNF576_ENST00000528387.1_Missense_Mutation_p.P58A|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.P58A|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.P58A|ZNF576_ENST00000525771.1_Missense_Mutation_p.P58A|ZNF576_ENST00000391965.2_Missense_Mutation_p.P58A	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GCGGGAGCACCCAGCGGACTT	0.637000													5	197					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146108216	146108216	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:146108216C>T	ENST00000292579.7	-	6	483	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	ZNF250_ENST00000417550.2_Missense_Mutation_p.E118K|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CCCTTGGTTTCACATTCTGAA	0.413000													11	167					0	0	1	0	0
GPR75	10936	broad.mit.edu	37	2	54080838	54080838	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:54080838G>C	ENST00000394705.2	-	2	1326	c.1056C>G	c.(1054-1056)ttC>ttG	p.F352L	ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	352						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGTAAAGAATGAAGCTCCCAT	0.443000													20	91					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148847597	148847597	+	Silent	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:148847597G>C	ENST00000296051.2	+	1	227	c.87G>C	c.(85-87)ggG>ggC	p.G29G	HPS3_ENST00000460120.1_Silent_p.G29G|HPS3_ENST00000494327.1_3'UTR	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	29						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGGCGGGGGGCGTGACGCGC	0.721000									Hermansky-Pudlak syndrome				4	43					0	0	1	0	0
CRYM	1428	broad.mit.edu	37	16	21273477	21273477	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21273477C>G	ENST00000219599.3	-	8	941	c.676G>C	c.(676-678)Gtt>Ctt	p.V226L	CRYM_ENST00000396023.2_Missense_Mutation_p.V226L|CRYM_ENST00000543948.1_Missense_Mutation_p.V226L|CRYM_ENST00000415987.2_Missense_Mutation_p.V184L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	226					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CTGGCTCCAACAGCTAAGAGA	0.522000													5	40					0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160138558	160138558	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:160138558G>C	ENST00000357388.3	+	13	2339	c.1888G>C	c.(1888-1890)Gac>Cac	p.D630H	SMC4_ENST00000360111.2_Missense_Mutation_p.D630H|SMC4_ENST00000469762.1_Missense_Mutation_p.D605H|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.D630H|SMC4_ENST00000344722.5_Missense_Mutation_p.D630H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	630	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGAAAAATACGACGTGGCTAT	0.373000													18	133					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133887605	133887605	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:133887605G>T	ENST00000409261.1	-	6	659	c.286C>A	c.(286-288)Cta>Ata	p.L96I	NCKAP5_ENST00000405974.3_Missense_Mutation_p.L96I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.L96I|NCKAP5_ENST00000317721.6_Missense_Mutation_p.L96I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	96							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGACTCTAGGGTCACCTCC	0.478000													5	28					0.014758	0.014898	1	1	0
ALYREF	10189	broad.mit.edu	37	17	79848597	79848597	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:79848597G>C	ENST00000331204.4	-	2	363	c.337C>G	c.(337-339)Ctg>Gtg	p.L113V	ALYREF_ENST00000512673.1_5'UTR|ALYREF_ENST00000505490.2_Missense_Mutation_p.L120V	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	113	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CCAAAATCCAGATTGGACACC	0.567000													5	118					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180359944	180359944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:180359944T>G	ENST00000273654.4	-	19	2582	c.1963A>C	c.(1963-1965)Act>Cct	p.T655P	CCDC39_ENST00000442201.2_Missense_Mutation_p.T571P			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	571					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTTCTCGAGTACGCTTAACT	0.323000													10	24					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93496669	93496669	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:93496669C>A	ENST00000394196.4	+	14	2653	c.1585C>A	c.(1585-1587)Caa>Aaa	p.Q529K	CHD2_ENST00000557381.1_Missense_Mutation_p.Q529K	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	529	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCTGTTCCACCAACACCAGCT	0.443000													24	108					9.86323e-18	1.09317e-17	1	1	0
ARPC2	10109	broad.mit.edu	37	2	219110212	219110212	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:219110212C>G	ENST00000295685.10	+	7	880	c.619C>G	c.(619-621)Ctg>Gtg	p.L207V	ARPC2_ENST00000315717.5_Missense_Mutation_p.L207V|ARPC2_ENST00000477992.1_3'UTR	NM_005731.2	NP_005722.1	O15144	ARPC2_HUMAN	actin related protein 2/3 complex, subunit 2, 34kDa	207					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		GGAACCTCCTCTGGAGCTGAA	0.527000													11	99					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171310693	171310693	+	Silent	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:171310693A>G	ENST00000367749.3	+	10	1722	c.1392A>G	c.(1390-1392)ggA>ggG	p.G464G		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	464					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTTCTTTGGACCATGTACTC	0.498000													14	113					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847683	95847683	+	Silent	SNP	T	T	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr2:95847683T>C	ENST00000398107.2	+	4	1506	c.984T>C	c.(982-984)taT>taC	p.Y328Y	ZNF2_ENST00000295210.6_Silent_p.Y332Y|ZNF2_ENST00000425369.1_Silent_p.Y290Y|ZNF2_ENST00000453539.2_Silent_p.Y383Y|ZNF2_ENST00000340539.5_Silent_p.Y370Y	NM_001017396.1	NP_001017396	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACAAGCCATATGAATGCAGCG	0.552000													31	169					0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3189016	3189016	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:3189016G>C	ENST00000396878.3	+	5	1113	c.638G>C	c.(637-639)cGg>cCg	p.R213P	ZNF213_ENST00000576416.1_Missense_Mutation_p.R213P|ZNF213_ENST00000416391.2_Missense_Mutation_p.R55P|ZNF213_ENST00000574902.1_Missense_Mutation_p.R213P	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	213	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						TATTTCTCCCGGGAAGAATGG	0.617000													9	170					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82832894	82832894	+	Missense_Mutation	SNP	A	A	G	rs142339468		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:82832894A>G	ENST00000265077.3	+	8	4637	c.4072A>G	c.(4072-4074)Agt>Ggt	p.S1358G	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.S371G|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1358	GAG-beta.				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)		TGAACCTTGTAGTGAAGAAAC	0.338000													9	98					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477304	78477304	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr13:78477304G>A	ENST00000377211.4	-	4	1210	c.1058C>T	c.(1057-1059)aCa>aTa	p.T353I	EDNRB_ENST00000334286.5_Missense_Mutation_p.T263I|EDNRB_ENST00000446573.1_Missense_Mutation_p.T263I	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	263					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CATGAAAGCTGTCTTCTGAAC	0.403000													13	83					0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88883148	88883148	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr14:88883148A>G	ENST00000556553.1	+	5	795	c.236A>G	c.(235-237)tAt>tGt	p.Y79C	SPATA7_ENST00000045347.7_Missense_Mutation_p.Y111C|SPATA7_ENST00000393545.4_Missense_Mutation_p.Y111C|SPATA7_ENST00000356583.5_Missense_Mutation_p.Y79C			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	111					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CGAGCCAATTATAAAAATAAT	0.294000													7	76					0	0	1	0	0
UPK3A	7380	broad.mit.edu	37	22	45689107	45689107	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:45689107G>C	ENST00000216211.4	+	5	649	c.617G>C	c.(616-618)gGa>gCa	p.G206A	UPK3A_ENST00000396082.2_Missense_Mutation_p.G85A	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	206					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGGCGGAGCGGAGGCATGATC	0.612000													3	78					0	0	1	0	0
FAM60A	58516	broad.mit.edu	37	12	31446847	31446847	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:31446847C>T	ENST00000337682.4	-	4	615	c.247G>A	c.(247-249)Gga>Aga	p.G83R	FAM60A_ENST00000395766.1_5'UTR|FAM60A_ENST00000542983.1_5'UTR|FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.G83R	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	83										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					AGACTGGGTCCAGCCCTTGCA	0.368000													11	71					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73239236	73239236	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:73239236A>T	ENST00000245541.6	-	6	652	c.436T>A	c.(436-438)Tct>Act	p.S146T	GGA3_ENST00000578348.1_Missense_Mutation_p.S24T|GGA3_ENST00000351904.7_Missense_Mutation_p.S113T|GGA3_ENST00000538886.1_Missense_Mutation_p.S24T|GGA3_ENST00000582717.1_Missense_Mutation_p.S74T|GGA3_ENST00000582486.1_Missense_Mutation_p.S74T|GGA3_ENST00000537686.1_Intron	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	146	Binds to ARF1 (in long isoform).|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GGTGGGTCAGACTGCACTATG	0.542000													19	151					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48773879	48773879	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr15:48773879C>G	ENST00000316623.5	-	32	4392	c.3937G>C	c.(3937-3939)Ggc>Cgc	p.G1313R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1313	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G1313R(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CCTTTTTTGCCGGAGTAGCCC	0.373000													14	137					0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40737578	40737587	+	Frame_Shift_Del	DEL	ATCTATGCTG	ATCTATGCTG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:40737578_40737587delATCTATGCTG	ENST00000372759.3	+	6	805_814	c.640_649delATCTATGCTG	c.(640-651)atctatgctgatfs	p.IYAD214fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	214						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTGTCACAATCTATGCTGATTATATTGC	0.300													11	173	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485													7	1314	---	---	---	---					
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488													8	287	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52643634	52643634	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52643634delT	ENST00000356770.4	-	15	2168	c.2166delA	c.(2164-2166)aaafs	p.K722fs	PBRM1_ENST00000296302.7_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.K769fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.K754fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.K769fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.K754fs			Q86U86	PB1_HUMAN	polybromo 1	754	Bromo 5.				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)		CAAGCAGGACTTTGTGTAGAA	0.418			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								8	113	---	---	---	---					
ITIH1	3697	broad.mit.edu	37	3	52814364	52814364	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:52814364delC	ENST00000273283.2	+	6	677	c.653delC	c.(652-654)gccfs	p.A218fs	ITIH1_ENST00000542827.1_Frame_Shift_Del_p.A218fs|ITIH1_ENST00000540715.1_Frame_Shift_Del_p.A76fs|ITIH1_ENST00000537050.1_5'UTR|ITIH1_ENST00000487686.1_3'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	218					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAACTGGCAGCCCAAACTATC	0.527													7	41	---	---	---	---					
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581													8	164	---	---	---	---					
MFSD8	256471	broad.mit.edu	37	4	128865042	128865060	+	Frame_Shift_Del	DEL	GTCTATAATTAGACCATAA	GTCTATAATTAGACCATAA	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr4:128865042_128865060delGTCTATAATTAGACCATAA	ENST00000296468.3	-	5	413_431	c.286_304delTTATGGTCTAATTATAGAC	c.(286-306)ttatggtctaattatagaccafs	p.LWSNYRP96fs	MFSD8_ENST00000541133.1_Frame_Shift_Del_p.LWSNYRP51fs|MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Frame_Shift_Del_p.LWSNYRP51fs	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	96					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TCTTTTCTTGGTCTATAATTAGACCATAAACCAAATATA	0.402													11	109	---	---	---	---					
TBC1D9B	23061	broad.mit.edu	37	5	179294465	179294465	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr5:179294465delA	ENST00000356834.3	-	19	2931	c.2894delT	c.(2893-2895)ttcfs	p.F965fs	TBC1D9B_ENST00000444477.2_Intron|TBC1D9B_ENST00000519746.1_Intron|TBC1D9B_ENST00000355235.3_Intron	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	965						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGGCAGGAAAAGATCCAG	0.597													5	9	---	---	---	---					
ZNF318	24149	broad.mit.edu	37	6	43305708	43305708	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:43305708delC	ENST00000361428.2	-	10	6105	c.6028delG	c.(6028-6030)gagfs	p.E2010fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2010					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCAGTAAGCTCCTCTACCTTT	0.473													8	109	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725847	87725847	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr6:87725847delC	ENST00000305344.5	+	2	1498	c.795delC	c.(793-795)atcfs	p.I265fs		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CCATCAGGATCCCCCCCTTCG	0.512													7	322	---	---	---	---					
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(271-273)ggc>GGCggc	p.91_91G>GG	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	91	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782													2	4	---	---	---	---					
LINC00051	619434	broad.mit.edu	37	8	143287465	143287466	+	RNA	INS	-	-	AGGGGC			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr8:143287465_143287466insAGGGGC	ENST00000517704.1	+	0	101					NR_024378.1																						GAGACAGCGGAaggggcagggg	0.624													4	2	---	---	---	---					
SURF6	6838	broad.mit.edu	37	9	136201230	136201234	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-	rs35975060		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136201230_136201234delGCAGG	ENST00000372022.4	-	2	563_567	c.298_302delCCTGC	c.(298-303)cctgcafs	p.PA100fs		NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	100						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		CCTCTCACCTGCAGGGTTCCCTGCT	0.605													7	50	---	---	---	---					
SURF1	6834	broad.mit.edu	37	9	136220674	136220682	+	In_Frame_Del	DEL	CCTCCCGGG	CCTCCCGGG	-	rs140443050		TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr9:136220674_136220682delCCTCCCGGG	ENST00000371974.3	-	5	468_476	c.437_445delCCCGGGAGG	c.(436-447)gcccgggagggc>ggc	p.ARE146del	SURF1_ENST00000495952.1_5'UTR	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	146					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		ATGAGGCCGCCCTCCCGGGCCTCCCGGAC	0.598													33	331	---	---	---	---					
HMX3	340784	broad.mit.edu	37	10	124895626	124895627	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr10:124895626_124895627insC	ENST00000357878.5	+	1	149_150	c.60_61insC	c.(61-63)cccfs	p.P21fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	21	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		AACCGCCGCCGCCCCCCCCACC	0.748													2	4	---	---	---	---					
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr12:56558379_56558381delAGG	ENST00000550164.1	-	28	3381_3383	c.3367_3369delCCT	c.(3367-3369)cctdel	p.P1123del	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.			HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).	chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591													9	76	---	---	---	---					
PDZD9	255762	broad.mit.edu	37	16	21995741	21995750	+	Frame_Shift_Del	DEL	TTTCTTGTCG	TTTCTTGTCG	-	rs146108684	byFrequency	TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr16:21995741_21995750delTTTCTTGTCG	ENST00000286143.6	-	5	768_777	c.447_456delCGACAAGAAA	c.(445-456)gacgacaagaaafs	p.DDKK149fs	PDZD9_ENST00000537222.2_Frame_Shift_Del_p.DDKK151fs|PDZD9_ENST00000424898.2_Frame_Shift_Del_p.DDKK211fs			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	211								p.D150E(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CCCTCACTTCTTTCTTGTCGTCTCTGTGAA	0.433													13	219	---	---	---	---					
ARHGAP44	9912	broad.mit.edu	37	17	12888211	12888211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr17:12888211delA	ENST00000379672.5	+	20	2603	c.2303delA	c.(2302-2304)gaafs	p.E768fs	ARHGAP44_ENST00000340825.3_Frame_Shift_Del_p.E762fs|ARHGAP44_ENST00000262444.9_Frame_Shift_Del_p.E768fs	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	768					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TCCCCTGGGGAAAGCATGTCT	0.537													11	58	---	---	---	---					
APOC1P1	342	broad.mit.edu	37	19	45434237	45434237	+	RNA	DEL	T	T	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:45434237delT	ENST00000574565.1	+	0	402					NR_028412.1																						AGTGACCCCCTTCCTTATTCC	0.517													7	480	---	---	---	---					
KPTN	11133	broad.mit.edu	37	19	47984066	47984066	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr19:47984066delC	ENST00000338134.3	-	6	657	c.550delG	c.(550-552)gaafs	p.E184fs	KPTN_ENST00000536339.1_5'UTR|KPTN_ENST00000595484.1_5'UTR	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)	184					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		ACGGGCTGTTCCTCAAACTGA	0.602													27	327	---	---	---	---					
NCF4	4689	broad.mit.edu	37	22	37261076	37261080	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chr22:37261076_37261080delAGAGC	ENST00000397147.4	+	3	417_421	c.233_237delAGAGC	c.(232-237)aagagcfs	p.KS78fs	CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Frame_Shift_Del_p.KS78fs	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	78	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCAGACAGCAAGAGCAGTGCCCTGG	0.620													18	136	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887952	48887952	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A3PK-01A-21D-A21Z-08	TCGA-BT-A3PK-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad38e8e-e63e-41d9-9216-617be7fa1d75	eb8ecd73-a631-4193-a59a-d841e08d51e9	g.chrX:48887952delC	ENST00000315869.7	-	10	1704	c.1445delG	c.(1444-1446)ggafs	p.G482fs		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						CTGGGCAGGTCCCCCCCCTAC	0.647			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								40	122	---	---	---	---					
