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
PRAMEF1	65121	broad.mit.edu	37	1	12854241	12854241	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:12854241C>T	ENST00000332296.7	+	3	568	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	155										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACATCTGCCTCAAGGAAATAC	0.498000													9	395					0	0	1	0	0
IL11RA	3590	broad.mit.edu	37	9	34660381	34660381	+	Missense_Mutation	SNP	C	C	T	rs148186329	by1000genomes	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:34660381C>T	ENST00000555003.1	+	10	2419	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	IL11RA_ENST00000378817.4_Missense_Mutation_p.R355W|IL11RA_ENST00000318041.9_Missense_Mutation_p.R355W|IL11RA_ENST00000602473.1_Missense_Mutation_p.R355W|IL11RA_ENST00000441545.2_Missense_Mutation_p.R355W			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	355						integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	ACCACACCCTCGGCTACTTGG	0.587000													15	22					0	0	1	0	0
NIP7	51388	broad.mit.edu	37	16	69374142	69374142	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:69374142G>A	ENST00000254940.5	+	3	589	c.189G>A	c.(187-189)ctG>ctA	p.L63L	NIP7_ENST00000569637.2_Silent_p.L63L|NIP7_ENST00000254941.6_Silent_p.L63L|RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	63					ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGACAAGCTGGTGTCGCTGG	0.517000													21	83					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125359605	125359605	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:125359605C>T	ENST00000278919.3	-	2	303	c.69G>A	c.(67-69)ccG>ccA	p.P23P	FEZ1_ENST00000524435.1_Silent_p.P23P|FEZ1_ENST00000366139.3_Silent_p.P23P	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	23					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GCTTCTCCTCCGGGTCCTCCG	0.537000													25	85					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297854	62297854	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:62297854C>G	ENST00000378024.4	-	5	4309	c.4035G>C	c.(4033-4035)ttG>ttC	p.L1345F	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1345					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)				CTACCTCAGGCAAGGACACAT	0.488000													29	307					0	0	1	0	0
RAB15	376267	broad.mit.edu	37	14	65415117	65415117	+	Silent	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:65415117G>T	ENST00000533601.2	-	7	931	c.594C>A	c.(592-594)ggC>ggA	p.G198G	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000267512.5_3'UTR|RAB15_ENST00000426039.3_Silent_p.G152G|RAB15_ENST00000436278.2_3'UTR			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	198					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		CCTCGGGTTTGCCCTCCTCCT	0.642000													8	26					5.18039e-06	5.36323e-06	1	1	0
TSC2	7249	broad.mit.edu	37	16	2135263	2135263	+	Silent	SNP	C	C	T	rs137854401		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:2135263C>T	ENST00000219476.3	+	36	5232	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	TSC2_ENST00000568454.1_Silent_p.L1478L|TSC2_ENST00000350773.4_Silent_p.L1511L|TSC2_ENST00000353929.4_Silent_p.L1491L|TSC2_ENST00000382538.6_Silent_p.L1419L|TSC2_ENST00000401874.2_Silent_p.L1467L|TSC2_ENST00000439673.2_Silent_p.L1431L	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1534	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGCAGCTCCTCGACCAGATCC	0.667000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				10	46					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71891553	71891553	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:71891553C>T	ENST00000258104.3	+	45	5319	c.5042C>T	c.(5041-5043)cCa>cTa	p.P1681L	DYSF_ENST00000410020.3_Missense_Mutation_p.P1720L|DYSF_ENST00000409762.1_Missense_Mutation_p.P1698L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Missense_Mutation_p.P1719L|DYSF_ENST00000409651.1_Missense_Mutation_p.P1713L|DYSF_ENST00000394120.2_Missense_Mutation_p.P1682L|DYSF_ENST00000409744.1_Missense_Mutation_p.P1689L|DYSF_ENST00000429174.2_Missense_Mutation_p.P1702L|DYSF_ENST00000409366.1_Missense_Mutation_p.P1703L|DYSF_ENST00000410041.1_Missense_Mutation_p.P1699L|DYSF_ENST00000413539.2_Missense_Mutation_p.P1712L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1681						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGTGGACTCCCACAGACCTAC	0.557000													8	48					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314151	54314151	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:54314151C>T	ENST00000324134.6	-	3	930	c.762G>A	c.(760-762)gaG>gaA	p.E254E	NLRP12_ENST00000351894.4_Silent_p.E254E|NLRP12_ENST00000535162.1_Silent_p.E254E|NLRP12_ENST00000391772.1_Silent_p.E254E|NLRP12_ENST00000391775.3_Silent_p.E254E|NLRP12_ENST00000391773.1_Silent_p.E254E|NLRP12_ENST00000354278.3_Silent_p.E254E|NLRP12_ENST00000345770.5_Silent_p.E254E	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	254	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TCTGGTTCATCTCCCTGCAGT	0.567000													6	41					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6441974	6441974	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:6441974C>T	ENST00000348035.4	+	6	689	c.476C>T	c.(475-477)gCg>gTg	p.A159V	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.A178V	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	159					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.A159V(1)|p.A178V(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	GAGTGCTCGGCGCTCACACAG	0.567000													23	82					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:52864001A>G	ENST00000451298.1	-	0	168				RP11-64P12.8_ENST00000606031.1_RNA																							GAAAAAATAAAGCAATAGCTA	0.313000													4	44					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196408	42196408	+	Splice_Site	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:42196408C>G	ENST00000541110.1	-	18	3907		c.e18-1		TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGAAGACTCTAAAAATAAA	0.458000													83	225					0	0	1	0	0
LRTOMT	220074	broad.mit.edu	37	11	71804685	71804685	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:71804685G>A	ENST00000324866.7	+	4	392	c.226G>A	c.(226-228)Gag>Aag	p.E76K	LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000307198.7_5'UTR|LRTOMT_ENST00000539271.1_5'UTR|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000289488.2_Missense_Mutation_p.E76K|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000423494.2_Missense_Mutation_p.E58K|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000536917.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000538478.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000541614.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000447974.1_Missense_Mutation_p.E76K|LRTOMT_ENST00000439209.1_Missense_Mutation_p.E76K	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	76						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						ACAGCTGTTGGAGCACCCAGA	0.512000													18	82					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68139438	68139438	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:68139438G>C	ENST00000262215.3	-	27	4239	c.3850C>G	c.(3850-3852)Cta>Gta	p.L1284V	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.L122V|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.L738V	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1284					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GATGCAGCTAGATGAAATACA	0.398000													17	85					0	0	1	0	0
ALDH8A1	64577	broad.mit.edu	37	6	135271181	135271181	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:135271181G>A	ENST00000265605.2	-	1	79	c.11C>T	c.(10-12)aCa>aTa	p.T4I	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.T4I|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.T4I	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	4					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AAGTGCGTTTGTTCCAGCCAT	0.453000													30	107					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25009273	25009273	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:25009273G>A	ENST00000381989.3	-	31	4111	c.4006C>T	c.(4006-4008)Cct>Tct	p.P1336S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1336					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAGGAAGCAGGACTGTGAGCG	0.502000													11	75					0	0	1	0	0
SCLT1	132320	broad.mit.edu	37	4	129920853	129920853	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:129920853G>A	ENST00000281142.5	-	7	1026	c.523C>T	c.(523-525)Cat>Tat	p.H175Y	SCLT1_ENST00000503215.1_Missense_Mutation_p.H152Y|SCLT1_ENST00000434680.1_Missense_Mutation_p.H175Y|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	175						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TCAAATACATGAATCTGGGCC	0.378000													13	80					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228397	77228397	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:77228397A>C	ENST00000248248.3	+	4	991	c.641A>C	c.(640-642)cAg>cCg	p.Q214P	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.Q68P|MON1B_ENST00000439557.2_Missense_Mutation_p.Q105P	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	214							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						GCACACAAGCAGAACTATGAC	0.627000													24	80					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603353	138603353	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:138603353C>G	ENST00000440172.1	-	2	1067	c.1019G>C	c.(1018-1020)aGa>aCa	p.R340T	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R340T|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R290T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	340						integral to membrane		p.R290I(1)|p.R340I(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGTATGTTCTTGGAGAGAT	0.507000			O	BRAF	pilocytic astrocytoma								18	148					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49427258	49427258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:49427258G>A	ENST00000301067.7	-	39	11229	c.11230C>T	c.(11230-11232)Cag>Tag	p.Q3744*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGtgctgctgctgctgttgc	0.572000													4	16					0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818898	200818898	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:200818898C>T	ENST00000358823.2	+	11	3271	c.3001C>T	c.(3001-3003)Ctt>Ttt	p.L1001F	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.L985F|CAMSAP2_ENST00000236925.4_Missense_Mutation_p.L1012F	NM_203459.1	NP_982284.1	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	1012						cytoplasm|microtubule	protein binding										TGTGGATAGCCTTCCTCGGTT	0.408000													31	117					0	0	1	0	0
EXOSC5	56915	broad.mit.edu	37	19	41898788	41898788	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:41898788C>T	ENST00000221233.4	-	2	396	c.246G>A	c.(244-246)ccG>ccA	p.P82P	CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	82					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						GCCCAATCTTCGGCCTCAGGA	0.592000													12	41					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166897843	166897843	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:166897843G>C	ENST00000423058.2	-	13	2330	c.2313C>G	c.(2311-2313)gaC>gaG	p.D771E	AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D743E|SCN1A_ENST00000375405.3_Missense_Mutation_p.D760E|SCN1A_ENST00000303395.4_Missense_Mutation_p.D771E|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	771						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGATGGCCAGGTCAACAAATG	0.388000													21	119					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56994065	56994065	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56994065G>A	ENST00000179765.5	-	25	4921	c.4722C>T	c.(4720-4722)ctC>ctT	p.L1574L	BAZ2A_ENST00000379441.3_Silent_p.L1576L|BAZ2A_ENST00000551812.1_Silent_p.L1606L|BAZ2A_ENST00000549884.1_Silent_p.L1604L			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1606					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GAGTTGGCCAGAGGGGCTCCC	0.592000													5	37					0	0	1	0	0
MTHFSD	64779	broad.mit.edu	37	16	86575788	86575788	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:86575788G>A	ENST00000322911.6	-	6	521	c.471C>T	c.(469-471)gcC>gcT	p.A157A	MTHFSD_ENST00000360900.6_Silent_p.A158A|MTHFSD_ENST00000381214.5_Silent_p.A158A|MTHFSD_ENST00000543303.2_Silent_p.A157A|MTHFSD_ENST00000546093.1_5'UTR	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	158					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						ATTCCAGATCGGCGTAGCCTT	0.567000													13	31					0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130270795	130270795	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:130270795G>A	ENST00000373312.3	-	11	1553	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	FAM129B_ENST00000373314.3_Missense_Mutation_p.T434M|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	447							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGTCTCGAACGTATACACGGC	0.637000													36	144					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43045107	43045107	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:43045107C>G	ENST00000267890.6	-	14	2445	c.2337G>C	c.(2335-2337)gaG>gaC	p.E779D		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	779					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGATGCTTTTCTCTTCAGTTT	0.403000													59	154					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11076957	11076957	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:11076957G>A	ENST00000240185.3	+	3	409	c.295G>A	c.(295-297)Gca>Aca	p.A99T	TARDBP_ENST00000315091.3_Missense_Mutation_p.A99T|TARDBP_ENST00000439080.2_Intron	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	99					3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGTGAAAAGAGCAGTCCAGAA	0.368000													23	71					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417625	70417625	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:70417625C>A	ENST00000327305.6	-	9	1870	c.1213G>T	c.(1213-1215)Gct>Tct	p.A405S	NETO1_ENST00000299430.2_Missense_Mutation_p.A404S|NETO1_ENST00000583169.1_Missense_Mutation_p.A405S	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	405					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCAAAGTCAGCTGTAGCTCCT	0.443000													10	29					3.86212e-05	3.92154e-05	1	1	0
CD247	919	broad.mit.edu	37	1	167407814	167407814	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:167407814C>A	ENST00000392122.3	-	4	437	c.293G>T	c.(292-294)gGa>gTa	p.G98V	CD247_ENST00000362089.5_Missense_Mutation_p.G98V|CD247_ENST00000483825.1_5'UTR	NM_000734.3|NM_198053.2	NP_000725.1|NP_932170.1	P20963	CD3Z_HUMAN	CD247 molecule	98					interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)			TACCGGCTTTCCCCCCATCTC	0.562000													30	106					2.81731e-10	2.98703e-10	1	1	0
RAB12	201475	broad.mit.edu	37	18	8638167	8638167	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:8638167G>A	ENST00000329286.6	+	6	925	c.642G>A	c.(640-642)agG>agA	p.R214R		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	214					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						ATATTTTAAGGAATGAGTTGT	0.408000													9	80					0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	65004163	65004163	+	RNA	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:65004163G>A	ENST00000525437.1	+	0	1413							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CAGGCAGATGGGGATGGGCTT	0.657000													15	61					0	0	1	0	0
FZR1	51343	broad.mit.edu	37	19	3534431	3534431	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3534431G>A	ENST00000441788.2	+	13	1596	c.1360G>A	c.(1360-1362)Gat>Aat	p.D454N	FZR1_ENST00000395095.3_Missense_Mutation_p.D454N|FZR1_ENST00000313639.8_Missense_Mutation_p.D365N	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	454					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AATGTCCCCTGATGGGGAGGC	0.587000													5	10					0	0	1	0	0
INPP5E	56623	broad.mit.edu	37	9	139326414	139326414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:139326414C>A	ENST00000371712.3	-	7	1813	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	471						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CAGAACACCTCATCGAAGCGG	0.667000													7	66					2.17888e-05	2.23822e-05	1	1	0
RNFT2	84900	broad.mit.edu	37	12	117191824	117191824	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:117191824G>A	ENST00000257575.4	+	5	819	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNFT2_ENST00000319176.7_Missense_Mutation_p.A196T|RNFT2_ENST00000392549.2_Missense_Mutation_p.A196T|RNFT2_ENST00000407967.3_Missense_Mutation_p.A196T			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	196						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CAGCACCTTCGCCTATGCCAA	0.562000													27	79					0	0	1	0	0
ATG16L1	55054	broad.mit.edu	37	2	234171780	234171780	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:234171780G>C	ENST00000392017.4	+	3	471	c.214G>C	c.(214-216)Gga>Cga	p.G72R	ATG16L1_ENST00000373525.5_Intron|ATG16L1_ENST00000347464.5_Intron|ATG16L1_ENST00000392020.4_Missense_Mutation_p.G72R|ATG16L1_ENST00000392018.1_Missense_Mutation_p.G72R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	72					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ATTTAGTCCCGGACATGATGG	0.438000													9	50					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16260211	16260211	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:16260211G>C	ENST00000375759.3	+	11	7680	c.7476G>C	c.(7474-7476)caG>caC	p.Q2492H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2492	Pro-rich.|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCCCACACCAGAGCCCCCCTA	0.597000													24	83					0	0	1	0	0
CAPN6	827	broad.mit.edu	37	X	110495609	110495609	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:110495609C>T	ENST00000324068.1	-	5	792	c.625G>A	c.(625-627)Gag>Aag	p.E209K	CAPN6_ENST00000541758.1_Intron	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	209	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TACTTCTCCTCAACAAGCTCA	0.433000													9	82					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525564	176525564	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:176525564G>C	ENST00000367662.3	+	2	1270	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E36Q	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	36					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ATCCTTGGTTGAGAGGGAACA	0.532000													25	85					0	0	1	0	0
KHSRP	8570	broad.mit.edu	37	19	6416883	6416883	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:6416883G>C	ENST00000398148.3	-	13	1285	c.1193C>G	c.(1192-1194)cCa>cGa	p.P398R		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	398	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGAGGACCTGGGGGACCACT	0.667000													10	33					0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154180096	154180096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:154180096G>A	ENST00000368521.5	-	7	793	c.595C>T	c.(595-597)Cga>Tga	p.R199*	C1orf43_ENST00000350592.3_Nonsense_Mutation_p.R165*|C1orf43_ENST00000368519.1_Nonsense_Mutation_p.R181*|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Nonsense_Mutation_p.R147*	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	199						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TGGTGATGTCGCTGAGAGCTC	0.512000													4	92					0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108377582	108377582	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:108377582G>A	ENST00000223528.2	+	7	928	c.804G>A	c.(802-804)gtG>gtA	p.V268V	FKTN_ENST00000357998.5_Silent_p.V268V|FKTN_ENST00000602661.1_Silent_p.V268V|FKTN_ENST00000448551.2_Silent_p.V268V|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	268					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						ATAACACTGTGGAAGCTGTGG	0.398000													18	106					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7736222	7736222	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7736222C>T	ENST00000572933.1	+	84	14414	c.12954C>T	c.(12952-12954)gaC>gaT	p.D4318D	DNAH2_ENST00000389173.2_Silent_p.D4318D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4318					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGTGGATGACAGCAACCTAG	0.517000													53	181					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363179	22363179	+	RNA	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:22363179G>A	ENST00000390438.2	+	0	438																											CCATATGAGCGACGCGGCTGA	0.502000													27	76					0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1584751	1584751	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:1584751C>T	ENST00000381297.4	-	2	911	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	234						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCCACCGCGCGCCTCCGCTG	0.657000			T	CRLF2	"""B-ALL, Downs associated ALL"""								12	34					0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53911277	53911277	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:53911277G>A	ENST00000396408.3	+	4	586	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ATTTCACACTGAAGAGAAAAT	0.383000													30	130					0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10442739	10442739	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:10442739G>A	ENST00000317552.4	-	6	1465	c.1065C>T	c.(1063-1065)ctC>ctT	p.L355L	MID1_ENST00000453318.2_Silent_p.L355L|MID1_ENST00000380779.1_Silent_p.L355L|MID1_ENST00000380780.1_Silent_p.L355L|MID1_ENST00000380782.2_Silent_p.L355L|MID1_ENST00000380785.1_Silent_p.L355L|MID1_ENST00000380787.1_Silent_p.L355L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	355	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ATGTGTCATTGAGGTTGATTT	0.378000													12	77					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86284631	86284631	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:86284631C>T	ENST00000394518.2	+	35	8058	c.7963C>T	c.(7963-7965)Cgt>Tgt	p.R2655C	AKAP13_ENST00000361243.2_Missense_Mutation_p.R2659C|AKAP13_ENST00000394510.2_Missense_Mutation_p.R900C|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2655	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGCGACTGCGTGCTGCCCA	0.632000													7	36					0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53800378	53800378	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:53800378G>C	ENST00000426431.2	+	4	1724	c.1664G>C	c.(1663-1665)gGa>gCa	p.G555A	SP1_ENST00000327443.4_Missense_Mutation_p.G562A	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	562	Transactivation domain C (highly charged).				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)		GGTGATCATGGAGCTCAGCTT	0.493000													8	62					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107800849	107800849	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:107800849C>T	ENST00000379028.3	-	31	4025	c.3555G>A	c.(3553-3555)ctG>ctA	p.L1185L	NRCAM_ENST00000379024.4_Silent_p.L1073L|NRCAM_ENST00000425651.2_Silent_p.L1185L|NRCAM_ENST00000351718.4_Silent_p.L1064L|NRCAM_ENST00000413765.2_Silent_p.L1061L|NRCAM_ENST00000379022.4_Silent_p.L1185L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1185					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCAAACAATCAGCAAAATTA	0.378000													25	68					0	0	1	0	0
BLOC1S4	55330	broad.mit.edu	37	4	6718317	6718317	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:6718317G>C	ENST00000320776.3	+	1	476	c.381G>C	c.(379-381)gaG>gaC	p.E127D		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino																		AGGCCGCCGAGATGCGGCGCA	0.687000													3	13					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112177070	112177070	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:112177070C>T	ENST00000457016.1	+	16	6159	c.5779C>T	c.(5779-5781)Ctt>Ttt	p.L1927F	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.L1927F|APC_ENST00000508376.2_Missense_Mutation_p.L1927F			P25054	APC_HUMAN	adenomatous polyposis coli	1927	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAAACCCATACTTCAGAAACA	0.418000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			22	61					0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65007732	65007732	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:65007732C>T	ENST00000247207.6	+	1	547	c.165C>T	c.(163-165)gcC>gcT	p.A55A	HSPA2_ENST00000394709.1_Silent_p.A55A|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		TCGGCGACGCCGCCAAGAACC	0.597000													13	51					0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45943218	45943218	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:45943218A>G	ENST00000357632.2	+	3	1118	c.938A>G	c.(937-939)aAc>aGc	p.N313S	CCR9_ENST00000395963.2_Missense_Mutation_p.N301S|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.N301S|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	313					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGTTGCCTGAACCCTGTTCTC	0.517000													17	55					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47079269	47079269	+	Splice_Site	SNP	T	T	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:47079269T>A	ENST00000409792.3	-	18	7281		c.e18-2			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGAGTCTGCCTAGAAAGAGAC	0.448000			"""N, F, S, Mis"""		clear cell renal carcinoma								14	35					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81051996	81051996	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:81051996G>A	ENST00000334512.5	+	11	1412	c.840G>A	c.(838-840)gcG>gcA	p.A280A	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	280	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTCAGCCCgcggcagccgctg	0.672000													31	91					0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294765	109294765	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:109294765C>T	ENST00000327419.6	+	2	809	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	136						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGGCAGCCCCGGGACTCTCC	0.726000													17	77					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247599380	247599380	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:247599380C>A	ENST00000336119.3	+	6	3353	c.2607C>A	c.(2605-2607)gaC>gaA	p.D869E	NLRP3_ENST00000391827.2_Missense_Mutation_p.D812E|NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000366497.2_Intron|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Missense_Mutation_p.D869E	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	869					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTTGGGAGACTCAGGAGTCG	0.478000													17	50					3.52763e-06	3.66651e-06	1	1	0
NAV1	89796	broad.mit.edu	37	1	201687586	201687586	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:201687586G>A	ENST00000367296.4	+	3	1349	c.929G>A	c.(928-930)cGc>cAc	p.R310H	IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.R323H|NAV1_ENST00000295624.6_Missense_Mutation_p.R310H|NAV1_ENST00000367297.4_Missense_Mutation_p.R310H|NAV1_ENST00000367300.3_Missense_Mutation_p.R310H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	310					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CTCTCCAACCGCTCGTCCCCT	0.662000													10	39					0	0	1	0	0
AGO2	27161	broad.mit.edu	37	8	141559377	141559377	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:141559377C>T	ENST00000220592.5	-	12	1536	c.1424G>A	c.(1423-1425)aGa>aAa	p.R475K	AGO2_ENST00000519980.1_Missense_Mutation_p.R475K	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CGAGATCTTTCTGAGCTGCTC	0.622000													7	41					0	0	1	0	0
CERCAM	51148	broad.mit.edu	37	9	131190588	131190588	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131190588C>T	ENST00000372842.1	+	7	3684	c.540C>T	c.(538-540)tcC>tcT	p.S180S	CERCAM_ENST00000372838.4_Silent_p.S258S			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	258					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CAGGGGTCTCCGTCCACGTGT	0.582000													8	47					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346342	23346342	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:23346342C>T	ENST00000359591.4	+	7	2439	c.1748C>T	c.(1747-1749)aCa>aTa	p.T583I	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	583					endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TCCCAGGTCACACCTTCTGCT	0.692000													17	32					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641508	122641508	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:122641508C>A	ENST00000303924.4	-	2	610	c.73G>T	c.(73-75)Gga>Tga	p.G25*		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	25						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCTGTGATTCCAAGGAGGAGA	0.393000													44	62					2.37825e-27	2.62702e-27	1	1	0
AKAP5	9495	broad.mit.edu	37	14	64936100	64936100	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:64936100G>A	ENST00000320636.5	+	1	2276	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	AKAP5_ENST00000394718.3_Missense_Mutation_p.E330K|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron			P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5	330					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		ATCCAAATCAGAAGAAAGCAA	0.323000													24	86					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595455	82595455	+	Nonsense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:82595455C>A	ENST00000423517.2	-	4	3986	c.3649G>T	c.(3649-3651)Gaa>Taa	p.E1217*	PCLO_ENST00000333891.8_Nonsense_Mutation_p.E1217*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1156					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						AGTTTTTTTTCTTCAGGGAGT	0.373000													49	164					4.21674e-32	4.69712e-32	1	1	0
CHD6	84181	broad.mit.edu	37	20	40120426	40120426	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:40120426C>T	ENST00000373233.3	-	11	1525	c.1348G>A	c.(1348-1350)Gag>Aag	p.E450K	CHD6_ENST00000309279.7_Missense_Mutation_p.E450K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	450					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)				CGAGACTTCTCAAGTTTCTGC	0.448000													24	99					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44771188	44771188	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:44771188C>T	ENST00000592581.1	+	4	418	c.312C>T	c.(310-312)acC>acT	p.T104T	ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000589522.1_Intron|ZNF233_ENST00000391958.2_Intron	NM_001207005.1	NP_001193934.1	A6NK53	ZN233_HUMAN	zinc finger protein 233	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				cctcagccaccagcctggccc	0.557000													8	9					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53675717	53675717	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:53675717G>A	ENST00000371486.3	+	4	886	c.371G>A	c.(370-372)cGa>cAa	p.R124Q		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	124					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CTATCTGCTCGAGACTCCGTT	0.353000													20	135					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230326	140230326	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140230326C>T	ENST00000378122.3	+	1	2970	c.2246C>T	c.(2245-2247)tCg>tTg	p.S749L	PCDHA9_ENST00000532602.1_Missense_Mutation_p.S749L|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTTGGTCGTACTCGCAG	0.647000													6	133					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49339923	49339923	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:49339923G>C	ENST00000351842.4	-	9	1048	c.1040C>G	c.(1039-1041)tCt>tGt	p.S347C	USP4_ENST00000488520.1_5'UTR|USP4_ENST00000265560.4_Missense_Mutation_p.S394C	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	394					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CAGCTCCTGAGAATCTTGTTG	0.453000													19	59					0	0	1	0	0
TPTE2P2	644623	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													4	50					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49703924	49703924	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:49703924C>T	ENST00000252826.5	+	19	2961	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	TRPM4_ENST00000355712.5_Silent_p.G591G|TRPM4_ENST00000427978.2_Silent_p.G800G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	945					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TAGCCTATGGCGTGGCCACGG	0.607000													14	45					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145113144	145113144	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:145113144C>T	ENST00000426825.1	-	7	1028	c.947G>A	c.(946-948)gGa>gAa	p.G316E	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	316							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CCTCATACCTCCCATGTCAAA	0.692000													10	25					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053732	50053732	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:50053732C>G	ENST00000376042.1	+	6	2861	c.2563C>G	c.(2563-2565)Cac>Gac	p.H855D	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.H855D			Q8WWL7	CCNB3_HUMAN	cyclin B3	855					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CACAGAAGCTCACTTTAAGGA	0.532000													7	15					0	0	1	0	0
DCLK2	166614	broad.mit.edu	37	4	151114318	151114318	+	Missense_Mutation	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:151114318A>G	ENST00000296550.7	+	3	1539	c.785A>G	c.(784-786)gAt>gGt	p.D262G	DCLK2_ENST00000506325.1_Missense_Mutation_p.D262G|DCLK2_ENST00000507694.1_3'UTR|DCLK2_ENST00000302176.8_Missense_Mutation_p.D262G	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	262	Doublecortin 2.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TTTTTTGGTGATGACGATGTT	0.343000													51	72					0	0	1	0	0
GMPS	8833	broad.mit.edu	37	3	155632226	155632226	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:155632226C>G	ENST00000496455.1	+	8	1240	c.905C>G	c.(904-906)tCt>tGt	p.S302C	GMPS_ENST00000295920.7_Missense_Mutation_p.S203C	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	302					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity	p.S302F(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTGCTCATTCTTTCTACAAT	0.343000			T	MLL	AML								12	62					0	0	1	0	0
PGBD5	79605	broad.mit.edu	37	1	230492802	230492802	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:230492802G>A	ENST00000321327.2	-	4	686	c.687C>T	c.(685-687)ctC>ctT	p.L229L	PGBD5_ENST00000391860.1_Silent_p.L84L|PGBD5_ENST00000525115.1_Silent_p.L130L			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	130						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGACGAGGGCGAGGCTGCGGT	0.612000													14	42					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267046	107267046	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:107267046T>A	ENST00000334726.2	+	1	592	c.503T>A	c.(502-504)cTc>cAc	p.L168H		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCACTGTCTCTCTGTGGTAAT	0.473000													39	131					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317632	30317632	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:30317632G>T	ENST00000375377.1	-	3	1546	c.1445C>A	c.(1444-1446)cCc>cAc	p.P482H		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	482										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCCGACGGGGGTATTAAGCT	0.597000													26	89					4.87955e-14	5.32315e-14	1	1	0
ANGPT2	285	broad.mit.edu	37	8	6366505	6366505	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:6366505C>T	ENST00000325203.5	-	8	1752	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Silent_p.K374K|ANGPT2_ENST00000415216.1_Silent_p.K425K|ANGPT2_ENST00000523120.1_Silent_p.K425K			O15123	ANGP2_HUMAN	angiopoietin 2	426	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		TGTCTCCATCCTTTGTGCTAA	0.403000													16	77					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170236718	170236718	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:170236718G>T	ENST00000518525.1	+	10	1443	c.979G>T	c.(979-981)Gct>Tct	p.A327S	GABRP_ENST00000519598.1_Missense_Mutation_p.A327S|GABRP_ENST00000265294.4_Missense_Mutation_p.A327S|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	327						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATATGCAGTTGCTCACTACAG	0.498000											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	70					2.21704e-12	2.36007e-12	1	1	0
HRH3	11255	broad.mit.edu	37	20	60794907	60794907	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:60794907G>A	ENST00000340177.5	-	1	404	c.120C>T	c.(118-120)ctC>ctT	p.L40L	HRH3_ENST00000317393.6_Silent_p.L40L	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	40					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GCAGCGCCATGAGCGCGGCCA	0.741000													7	28					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913312	28913312	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:28913312C>T	ENST00000395503.4	+	16	2413	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	ATP2A1_ENST00000536376.1_Silent_p.I618I|ATP2A1_ENST00000357084.3_Silent_p.I743I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	743					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TCTCCACCATCGTAGCTGCTG	0.577000													17	53					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8032618	8032618	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:8032618C>T	ENST00000407627.2	-	5	616	c.487G>A	c.(487-489)Gca>Aca	p.A163T	ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Missense_Mutation_p.A163T|ELAVL1_ENST00000351593.5_Missense_Mutation_p.A190T	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	163	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGGTAATTGCCTCTTCTGCC	0.483000													16	69					0	0	1	0	0
ZNF222	7673	broad.mit.edu	37	19	44536389	44536389	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:44536389C>T	ENST00000187879.8	+	4	724	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L	ZNF222_ENST00000391960.3_Silent_p.L228L|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GAGCTCACGTCTGCAAACTCA	0.433000													37	144					0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76255846	76255846	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:76255846G>A	ENST00000529032.1	+	18	3253	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K	C11orf30_ENST00000525919.1_Missense_Mutation_p.E1086K|C11orf30_ENST00000524767.1_Missense_Mutation_p.E1100K|C11orf30_ENST00000334736.3_Missense_Mutation_p.E1085K|C11orf30_ENST00000525038.1_Missense_Mutation_p.E1086K|C11orf30_ENST00000524490.1_Missense_Mutation_p.E987K|C11orf30_ENST00000533248.1_Missense_Mutation_p.E994K|C11orf30_ENST00000343878.3_Missense_Mutation_p.E1085K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1085	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AGCTTCTTCAGAGAAACAGAC	0.483000													7	65					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114296088	114296088	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:114296088C>T	ENST00000309235.5	+	4	729	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	ZNF483_ENST00000358151.4_Nonsense_Mutation_p.Q191*|ZNF483_ENST00000355824.3_Nonsense_Mutation_p.Q191*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	191	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGAGCCTTTTCAAAAGGAGCT	0.403000													26	117					0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41897940	41897940	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:41897940G>A	ENST00000230340.4	+	3	877	c.502G>A	c.(502-504)Gag>Aag	p.E168K		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	168					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus		p.E168*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGTCATGTCAGAGGTGTCGGG	0.597000													6	48					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104733	74104733	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:74104733G>A	ENST00000370336.4	+	1	263	c.105G>A	c.(103-105)ttG>ttA	p.L35L	DDX43_ENST00000539829.1_Silent_p.L35L|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	35						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CGGAGGAGTTGAATCGAACAG	0.657000													29	91					0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67006327	67006327	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:67006327G>C	ENST00000303334.4	+	11	1431	c.1360G>C	c.(1360-1362)Gcc>Ccc	p.A454P	CES3_ENST00000394037.1_Missense_Mutation_p.A454P|CES3_ENST00000543856.1_Missense_Mutation_p.A93P	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	454						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GATCAAACCTGCCTGGGTGAA	0.537000													49	213					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105196289	105196289	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:105196289G>A	ENST00000332972.5	+	1	219	c.60G>A	c.(58-60)acG>acA	p.T20T	ADSSL1_ENST00000330877.2_Intron	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	0					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	AGAGGCCCACGAACCTGGCCC	0.687000													3	7					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50829270	50829270	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:50829270G>C	ENST00000398473.2	+	5	510		c.e5-1		LARP4_ENST00000429001.3_Splice_Site|LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000518561.1_Splice_Site|LARP4_ENST00000522085.1_Splice_Site|LARP4_ENST00000347328.5_Splice_Site|LARP4_ENST00000518444.1_Splice_Site	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4								nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGTTTTTTCAGAGAAAATTTG	0.299000													10	28					0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676109	53676109	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:53676109G>C	ENST00000371486.3	+	4	1278	c.763G>C	c.(763-765)Gat>Cat	p.D255H		NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	255					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	TTATATCTTTGATGTCCTGGA	0.498000													15	52					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118454703	118454703	+	Splice_Site	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:118454703C>G	ENST00000369443.4	-	5	721	c.470_splice	c.e5-1	p.E158_splice	GDAP2_ENST00000369442.3_Splice_Site_p.E158_splice	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	158	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATTGACTGCTCTCTGCAACAA	0.348000													14	66					0	0	1	0	0
PAX3	5077	broad.mit.edu	37	2	223158888	223158888	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:223158888C>T	ENST00000350526.4	-	4	720	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	PAX3_ENST00000409551.3_Missense_Mutation_p.R194Q|PAX3_ENST00000344493.4_Missense_Mutation_p.R195Q|PAX3_ENST00000336840.6_Missense_Mutation_p.R195Q|PAX3_ENST00000258387.5_Missense_Mutation_p.R195Q|PAX3_ENST00000409828.3_Missense_Mutation_p.R195Q|PAX3_ENST00000392069.2_Missense_Mutation_p.R195Q|PAX3_ENST00000392070.2_Missense_Mutation_p.R195Q	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	195					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCTTACCTCGCTCGCTCAG	0.612000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						21	87					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116572544	116572544	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:116572544G>C	ENST00000410059.1	+	20	2356	c.1876G>C	c.(1876-1878)Gac>Cac	p.D626H	DPP10_ENST00000393147.2_Missense_Mutation_p.D630H|DPP10_ENST00000310323.8_Missense_Mutation_p.D619H|DPP10_ENST00000409163.1_Missense_Mutation_p.D576H	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	626					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAAGTAAAGGACCAAATAAC	0.363000													22	77					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416150	150416150	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:150416150G>C	ENST00000307194.5	+	2	155	c.15G>C	c.(13-15)aaG>aaC	p.K5N		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGGAAGGAAGATGGCGACAG	0.418000													25	52					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148917	34148917	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:34148917C>T	ENST00000346193.3	-	1	1530	c.1479G>A	c.(1477-1479)tcG>tcA	p.S493S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	493										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTGCGAGTGGAGAC	0.647000													22	110					0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43318668	43318668	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:43318668G>A	ENST00000374518.4	+	20	3298	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1079					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCGAGCTCCAGAAGGAGCTTT	0.488000													22	65					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112058609	112058609	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:112058609C>G	ENST00000371959.3	-	2	1368	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	AMOT_ENST00000524145.1_Missense_Mutation_p.E457Q|AMOT_ENST00000371962.1_Missense_Mutation_p.E225Q|AMOT_ENST00000371958.1_Missense_Mutation_p.E225Q|AMOT_ENST00000304758.1_Missense_Mutation_p.E48Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	457					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GCCACCTTCTCATAGCATCCT	0.463000													68	261					0	0	1	0	0
FAM71C	196472	broad.mit.edu	37	12	100042510	100042510	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:100042510C>T	ENST00000324341.1	+	1	980	c.558C>T	c.(556-558)atC>atT	p.I186I	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	186										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CCAGGGCTATCCTAGCTGGGA	0.517000													8	30					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53575991	53575991	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:53575991C>T	ENST00000342160.3	-	66	10421	c.9964G>A	c.(9964-9966)Gtc>Atc	p.V3322I	HUWE1_ENST00000262854.6_Missense_Mutation_p.V3322I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3322					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGGATGTGGACGGTGGAGCCA	0.527000													7	29					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059199	79059199	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:79059199C>T	ENST00000388820.4	-	19	3264	c.3054G>A	c.(3052-3054)gaG>gaA	p.E1018E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1018					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGTCAGCCTCGTTGAAGA	0.662000													4	15					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910696	29910696	+	Missense_Mutation	SNP	A	A	G	rs75991672		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29910696A>G	ENST00000396634.1	+	4	577	c.236A>G	c.(235-237)gAg>gGg	p.E79G	HLA-A_ENST00000376809.5_Missense_Mutation_p.E79G|HLA-A_ENST00000376806.5_Missense_Mutation_p.E79G|HLA-A_ENST00000376802.2_Missense_Mutation_p.E79G			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	79	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ATAGAGCAGGAGGGGCCGGAG	0.652000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			14	24					0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56726847	56726847	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56726847G>A	ENST00000425394.2	-	2	408	c.32C>T	c.(31-33)gCa>gTa	p.A11V	PAN2_ENST00000257931.5_Missense_Mutation_p.A11V|PAN2_ENST00000548043.1_Missense_Mutation_p.A11V|PAN2_ENST00000440411.3_Missense_Mutation_p.A11V	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	11					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GGCATATTCTGCCAGTCCAGG	0.557000													14	36					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22165988	22165988	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:22165988C>A	ENST00000374695.3	-	73	9844	c.9765G>T	c.(9763-9765)caG>caT	p.Q3255H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3255	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAGCCGGTGCTGCCAGGGCA	0.632000													16	9					6.94344e-10	7.33228e-10	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129150170	129150170	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:129150170G>A	ENST00000540052.1	+	3	3466	c.3422G>A	c.(3421-3423)cGg>cAg	p.R1141Q	BCORL1_ENST00000359304.2_Missense_Mutation_p.R1141Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1141Q|BCORL1_ENST00000303743.5_Missense_Mutation_p.R1141Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1141					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						GCCGTGGTCCGGAGTTCCCAC	0.587000													5	12					0	0	1	0	0
TTF2	8458	broad.mit.edu	37	1	117631430	117631430	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:117631430C>G	ENST00000369466.3	+	13	2212	c.2168C>G	c.(2167-2169)tCa>tGa	p.S723*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	723	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAGGGCACCTCAACACCTTTG	0.463000													22	80					0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56346614	56346614	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56346614G>A	ENST00000331886.5	+	21	2294	c.1840G>A	c.(1840-1842)Gat>Aat	p.D614N	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.D614N|DGKA_ENST00000394147.1_Missense_Mutation_p.D614N	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	614					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCTCTGGGGTGATACCAGGAG	0.527000													15	164					0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90708681	90708681	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:90708681C>T	ENST00000458208.1	-	2	481	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.E3K|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	3					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCCTCTTCTTCACACATAGCT	0.532000													15	61					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44407983	44407983	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:44407983C>G	ENST00000585916.1	-	11	1446	c.1447G>C	c.(1447-1449)Gac>Cac	p.D483H	PIAS2_ENST00000545673.1_Missense_Mutation_p.D193H|PIAS2_ENST00000324794.7_Missense_Mutation_p.D483H	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	483					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGAGGGTCTTCCTCTTCG	0.408000													17	110					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523106	43523106	+	Silent	SNP	G	G	A	rs149472706		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:43523106G>A	ENST00000401740.1	-	3	628	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Silent_p.D175D|PSG11_ENST00000403486.1_Silent_p.D53D|PSG11_ENST00000306322.7_Silent_p.D53D			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	175	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GGTAGCTTGCGTCCGGAGTCT	0.522000													6	412					0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42695050	42695050	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:42695050G>C	ENST00000230882.4	+	5	488	c.298G>C	c.(298-300)Gaa>Caa	p.E100Q	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.E78Q	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	100					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	agaatggaAAGAATGCCCTGA	0.358000													22	39					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72956692	72956692	+	Silent	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:72956692C>A	ENST00000261180.4	+	9	1875	c.1779C>A	c.(1777-1779)ctC>ctA	p.L593L	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	593					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						AGTGGACACTCCAGATGGGTT	0.313000													57	193					2.73361e-28	3.03224e-28	1	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222520	140222520	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140222520C>T	ENST00000531613.1	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.R538R	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCGGGCG	0.672000													42	170					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	77763534	77763534	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:77763534G>C	ENST00000344720.5	+	5	1549	c.523G>C	c.(523-525)Gag>Cag	p.E175Q	AK5_ENST00000354567.2_Missense_Mutation_p.E201Q|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	201					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AACAATTACAGAGATAAAGCA	0.343000													14	55					0	0	1	0	0
PGAM4	441531	broad.mit.edu	37	X	77225022	77225022	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:77225022C>T	ENST00000458128.1	-	1	113	c.114G>A	c.(112-114)gcG>gcA	p.A38A	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000341514.6_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	38					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CGCCGCGCTTCGCCTCCTCGT	0.627000													61	171					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101829016	101829016	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:101829016G>T	ENST00000263468.8	+	5	894	c.624G>T	c.(622-624)ttG>ttT	p.L208F	KIAA1377_ENST00000537689.1_Missense_Mutation_p.L9F	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	208							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GGGCAACCTTGGCTACTAGCA	0.358000													35	179					2.38352e-08	2.49702e-08	1	1	0
ASAP3	55616	broad.mit.edu	37	1	23782676	23782676	+	Silent	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:23782676T>C	ENST00000336689.3	-	2	185	c.141A>G	c.(139-141)ggA>ggG	p.G47G	ASAP3_ENST00000437606.2_Silent_p.G47G	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	47					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGGCTTGGTCTCCTTCCAAGA	0.552000													15	15					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702334	27702334	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:27702334G>A	ENST00000438700.3	-	1	963	c.846C>T	c.(844-846)agC>agT	p.S282S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	282					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						GGAAGGAGATGCTGCTCAGGT	0.617000													13	52					0	0	1	0	0
SLC38A9	153129	broad.mit.edu	37	5	54960618	54960618	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:54960618C>T	ENST00000539768.1	-	6	599	c.600G>A	c.(598-600)tcG>tcA	p.S200S	SLC38A9_ENST00000515629.1_Silent_p.S137S|SLC38A9_ENST00000416547.2_Silent_p.S76S|SLC38A9_ENST00000512595.1_Silent_p.S173S|SLC38A9_ENST00000396865.2_Silent_p.S200S|SLC38A9_ENST00000318672.3_Silent_p.S200S			Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	200					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AAAGGAGACTCGACCACTGCC	0.363000													4	110					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179476105	179476105	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:179476105G>T	ENST00000589042.1	-	269	51075	c.50851C>A	c.(50851-50853)Cca>Aca	p.P16951T	TTN_ENST00000591111.1_Missense_Mutation_p.P15310T|TTN_ENST00000342992.6_Missense_Mutation_p.P14383T|TTN_ENST00000342175.6_Missense_Mutation_p.P8078T|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P8011T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P7886T|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15310	Fibronectin type-III 23.						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)			TTACAGTCTGGGTCTTTGGCA	0.378000													4	49					0.014758	0.014758	1	1	0
IL10RA	3587	broad.mit.edu	37	11	117859132	117859132	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:117859132G>C	ENST00000227752.3	+	2	223	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	IL10RA_ENST00000545409.1_5'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.E15Q|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	35						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		TGTGTGGTTTGAAGCAGAATT	0.542000													19	83					0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56868678	56868678	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:56868678C>T	ENST00000564887.1	+	14	2030	c.1401C>T	c.(1399-1401)gaC>gaT	p.D467D	NUP93_ENST00000569842.1_Silent_p.D590D|NUP93_ENST00000308159.5_Silent_p.D590D|NUP93_ENST00000542526.1_Silent_p.D467D	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	590					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TAGAGAATGACGGAAGTAGAA	0.313000													13	47					0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65617969	65617969	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:65617969C>T	ENST00000308342.6	+	5	867	c.442C>T	c.(442-444)Cac>Tac	p.H148Y		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	148	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGGCGGCCCACCCCACCCT	0.592000													9	20					0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35689169	35689169	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:35689169C>G	ENST00000378292.3	-	2	1416	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	TPM2_ENST00000378300.5_Missense_Mutation_p.E72Q|TPM2_ENST00000360958.2_Missense_Mutation_p.E72Q|TPM2_ENST00000329305.2_Missense_Mutation_p.E72Q	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	72					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCGGCCTGCTCCAGTTTCTCC	0.582000													50	165					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24741352	24741352	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:24741352G>A	ENST00000379068.3	+	11	1211	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	POLA1_ENST00000379059.3_Missense_Mutation_p.E384K			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	384					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GAAAAATATCGAGCGAACGCT	0.413000													29	105					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161875	151161875	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:151161875T>A	ENST00000367328.1	+	17	4313	c.4001T>A	c.(4000-4002)gTt>gAt	p.V1334D	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.V1334D	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1334					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)		AAAAAGCCGGTTAACAGCAAA	0.418000													41	120					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540060	169540060	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:169540060C>T	ENST00000340806.6	+	1	351	c.351C>T	c.(349-351)ctC>ctT	p.L117L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	117										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGCTTCCTCCACGCCCTGC	0.617000													16	88					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43823483	43823483	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:43823483G>A	ENST00000389420.3	-	24	3425	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	ADAMTS20_ENST00000553158.1_Silent_p.T1142T|ADAMTS20_ENST00000395541.2_Intron	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1142						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAATAAAGCGGTCTCAAGTT	0.338000													6	11					0	0	1	0	0
SYNJ1	8867	broad.mit.edu	37	21	34030113	34030113	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:34030113C>T	ENST00000382499.2	-	19	2490	c.2491G>A	c.(2491-2493)Gac>Aac	p.D831N	SYNJ1_ENST00000433931.2_Missense_Mutation_p.D831N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.D792N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.D787N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.D792N|SYNJ1_ENST00000464778.1_5'UTR	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	792	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTGTCATAGTCGTCAGAAAAC	0.413000													6	77					0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224969	127224969	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:127224969G>C	ENST00000321407.2	-	1	692	c.268C>G	c.(268-270)Cac>Gac	p.H90D	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	90						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCCTCGCTGTGAGTGGAGCAC	0.607000													6	58					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8141731	8141731	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:8141731G>A	ENST00000315684.8	-	3	421	c.414C>T	c.(412-414)aaC>aaT	p.N138N	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	138					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGACGCCAGTGTTATCTCTCA	0.507000													35	108					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28483355	28483355	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:28483355C>A	ENST00000261609.7	-	25	3865	c.3757G>T	c.(3757-3759)Gca>Tca	p.A1253S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1253	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCTTCCCCTGCAAACTGAGCT	0.458000													14	49					2.31682e-05	2.3707e-05	1	1	0
PCM1	5108	broad.mit.edu	37	8	17830019	17830019	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:17830019G>A	ENST00000325083.8	+	23	4205	c.3766G>A	c.(3766-3768)Gaa>Aaa	p.E1256K	PCM1_ENST00000524226.1_Missense_Mutation_p.E1257K|PCM1_ENST00000519253.1_Missense_Mutation_p.E1256K	NM_006197.3	NP_006188.3	Q15154	PCM1_HUMAN	pericentriolar material 1	1256					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTGATGAAGAATCACTGGA	0.403000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""								13	55					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162697095	162697095	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:162697095C>T	ENST00000306100.5	-	5	977	c.541G>A	c.(541-543)Gat>Aat	p.D181N	FSTL5_ENST00000536695.1_Missense_Mutation_p.D180N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D180N|FSTL5_ENST00000427802.2_Missense_Mutation_p.D180N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	181	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AACATTTGATCCACCAATAGC	0.289000													12	87					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12978071	12978071	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:12978071C>G	ENST00000273221.4	-	3	703	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	IQSEC1_ENST00000473088.1_5'UTR	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	163	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCGGTTCTCTGACATGGAG	0.592000													10	48					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182553928	182553928	+	Missense_Mutation	SNP	C	C	T	rs35764399		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:182553928C>T	ENST00000323116.5	+	5	681	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	ATP11B_ENST00000493826.1_Missense_Mutation_p.R141W|ATP11B_ENST00000482794.1_3'UTR	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	141					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAAAAACATTCGGGTATGCAT	0.338000													15	26					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41801352	41801352	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:41801352C>G	ENST00000396930.3	-	14	2685	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	KAT6A_ENST00000485568.1_Missense_Mutation_p.K714N|KAT6A_ENST00000406337.1_Missense_Mutation_p.K714N|KAT6A_ENST00000265713.2_Missense_Mutation_p.K714N	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	714	Catalytic.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TGCTTAACTTCTTAATGCTGA	0.438000													23	77					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179762846	179762846	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:179762846G>A	ENST00000253778.8	-	4	491	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	108	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TTGTCTGAGCGCTGAGGGTGG	0.612000													19	50					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345723	33345723	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537000													4	55					0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142281507	142281507	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:142281507G>A	ENST00000350721.4	-	4	858	c.737C>T	c.(736-738)tCc>tTc	p.S246F	ATR_ENST00000383101.3_Missense_Mutation_p.S246F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	246					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						AATTGCTAGGGATTTAATTTT	0.358000								Other conserved DNA damage response genes					6	55					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28269281	28269281	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:28269281G>C	ENST00000394835.3	+	2	258	c.66G>C	c.(64-66)gaG>gaC	p.E22D	EFCAB5_ENST00000394832.2_Missense_Mutation_p.E22D|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E22D|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E22D|EFCAB5_ENST00000534836.2_3'UTR|EFCAB5_ENST00000541045.1_5'UTR|EFCAB5_ENST00000536908.2_5'UTR	NM_198529.3	NP_940931.2	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	22							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGACAAAGAGAGGAAATGGA	0.338000													3	8					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62887133	62887133	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:62887133T>C	ENST00000281156.4	-	2	454	c.176A>G	c.(175-177)aAg>aGg	p.K59R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTCTGAGAGCTTTATGTTTTT	0.323000													23	64					0	0	1	0	0
PLBD1	79887	broad.mit.edu	37	12	14695211	14695211	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:14695211T>G	ENST00000240617.5	-	3	1002	c.350A>C	c.(349-351)cAc>cCc	p.H117P		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	117					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GTTTGTGTAGTGGTCATTCAT	0.333000													17	83					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155154441	155154441	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:155154441C>T	ENST00000367178.3	+	20	4304	c.3728C>T	c.(3727-3729)tCa>tTa	p.S1243L	TIAM2_ENST00000461783.3_5'UTR|SCAF8_ENST00000417268.1_Missense_Mutation_p.S1243L|SCAF8_ENST00000367186.4_Missense_Mutation_p.S1309L	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	1243					mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTGACATCTTCAAATGAAATA	0.398000													12	52					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	17					0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238220	104238220	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:104238220C>T	ENST00000374851.1	-	4	2302	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374848.3_Silent_p.V385V|RP11-490D19.6_ENST00000431507.1_RNA|TMEM246_ENST00000374847.1_Silent_p.V385V|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA			Q9BRR3	CI125_HUMAN	transmembrane protein 246	385						integral to membrane											CGATGTGTTTCACGAGGTTCG	0.542000													18	68					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29911104	29911104	+	Missense_Mutation	SNP	C	C	T	rs41543413		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29911104C>T	ENST00000396634.1	+	5	744	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C	HLA-A_ENST00000376809.5_Missense_Mutation_p.R135C|HLA-A_ENST00000376806.5_Missense_Mutation_p.R135C|HLA-A_ENST00000376802.2_Missense_Mutation_p.R135C			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	135	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCGCTTCCTCCGCGGGTACCG	0.672000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			8	28					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388253	131388253	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131388253G>T	ENST00000372739.3	+	48	6385	c.6275G>T	c.(6274-6276)cGc>cTc	p.R2092L	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2087L|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2092L	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2087					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTCACTTCCGCAAGGTGAGG	0.622000													23	53					5.45024e-15	5.97039e-15	1	1	0
SLC20A1	6574	broad.mit.edu	37	2	113416648	113416648	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:113416648C>A	ENST00000272542.3	+	7	1564	c.1025C>A	c.(1024-1026)aCc>aAc	p.T342N	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	342					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AAAGAGGAAACCAGCATAGAT	0.468000													9	51					9.70103e-10	1.02035e-09	1	1	0
VSIG8	391123	broad.mit.edu	37	1	159826374	159826374	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:159826374G>C	ENST00000368100.1	-	5	847	c.712C>G	c.(712-714)Cag>Gag	p.Q238E		NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	238	Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ACTGTGCACTGATACAGCCCA	0.557000													15	55					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35752159	35752159	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:35752159C>T	ENST00000400441.3	-	15	1828	c.1829G>A	c.(1828-1830)cGa>cAa	p.R610Q	MROH8_ENST00000217333.8_Missense_Mutation_p.R439Q|MROH8_ENST00000441008.2_Missense_Mutation_p.R596Q					maestro heat-like repeat family member 8																		CGTAGCTGCTCGAAGCCTGTT	0.483000													8	24					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99573303	99573303	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:99573303C>T	ENST00000376460.1	-	7	702	c.622G>A	c.(622-624)Gat>Aat	p.D208N	DOCK9_ENST00000339416.2_Missense_Mutation_p.D209N|DOCK9_ENST00000448493.2_Missense_Mutation_p.D220N|DOCK9_ENST00000442173.1_Missense_Mutation_p.D208N	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	209	PH.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TAGGATCCATCGCCAAGTTGA	0.343000													4	11					0	0	1	0	0
NINJ2	4815	broad.mit.edu	37	12	674476	674476	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:674476G>C	ENST00000305108.4	-	3	772	c.492C>G	c.(490-492)atC>atG	p.I164M	NINJ2_ENST00000397265.3_Missense_Mutation_p.I111M|NINJ2_ENST00000542920.1_Missense_Mutation_p.I82M	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	118					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TGAAAACATTGATGACCACAG	0.542000													10	48					0	0	1	0	0
MIR147A	406939	broad.mit.edu	37	9	123007275	123007275	+	RNA	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:123007275C>T	ENST00000385079.1	-	0	53					NR_029604.1																						AGAAGCATTTCCACACACTGG	0.423000													33	116					0	0	1	0	0
JADE3	9767	broad.mit.edu	37	X	46857542	46857542	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:46857542C>G	ENST00000218343.4	+	4	445	c.147C>G	c.(145-147)atC>atG	p.I49M	PHF16_ENST00000397189.1_Missense_Mutation_p.I49M	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		49					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AGGACCTCATCAGTGCCATGA	0.413000													25	130					0	0	1	0	0
DCAF12	25853	broad.mit.edu	37	9	34107381	34107381	+	Silent	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:34107381C>A	ENST00000361264.4	-	3	857	c.516G>T	c.(514-516)acG>acT	p.T172T	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	172						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGATCCAGCGTAGGTAGTC	0.493000													27	112					2.4375e-19	2.68125e-19	1	1	0
KCNJ10	3766	broad.mit.edu	37	1	160011200	160011200	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:160011200G>A	ENST00000368089.3	-	2	1349	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	375						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	p.R375S(1)|p.R375C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGCTGATGCGCACACTAAGG	0.532000													6	21					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1538445	1538445	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:1538445T>C	ENST00000389470.4	-	10	1564	c.1565A>G	c.(1564-1566)aAc>aGc	p.N522S	INTS1_ENST00000404767.3_Missense_Mutation_p.N394S			Q8N201	INT1_HUMAN	integrator complex subunit 1	394					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGTGTTGCAGTTCATGCAGAC	0.632000													3	12					0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9868876	9868876	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:9868876G>A	ENST00000397902.2	-	6	1290	c.877C>T	c.(877-879)Cat>Tat	p.H293Y	ZNF846_ENST00000588267.1_Missense_Mutation_p.H164Y|ZNF846_ENST00000592859.1_Missense_Mutation_p.H164Y|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TATGAAGAATGGGTGAAGGCT	0.393000													25	80					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143686	142143686	+	RNA	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:142143686G>C	ENST00000390373.2	-	0	309																											ACAGAAGTCTGAGAGGGAGCA	0.537000													26	115					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633708	70633708	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:70633708C>T	ENST00000381269.2	-	2	2185	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	SLC8A3_ENST00000357887.3_Missense_Mutation_p.E478K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E478K|SLC8A3_ENST00000356921.2_Missense_Mutation_p.E478K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E478K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	478	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AAGAAGTGTTCATCCTCCTCA	0.517000													23	167					0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18320456	18320456	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:18320456G>C	ENST00000396253.3	-	9	1167	c.705C>G	c.(703-705)gtC>gtG	p.V235V	HPS5_ENST00000349215.3_Silent_p.V349V|HPS5_ENST00000531848.1_Silent_p.V235V|HPS5_ENST00000438420.2_Silent_p.V235V	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	349						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAGATGTGAGACTTTCCCAT	0.443000									Hermansky-Pudlak syndrome				14	109					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557224	214557224	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:214557224G>C	ENST00000366956.5	-	13	2168	c.1974C>G	c.(1972-1974)ctC>ctG	p.L658L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	658					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGAGCGACTTGAGCGTCATGG	0.682000													4	35					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849824	73849824	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:73849824C>T	ENST00000523207.1	+	3	2822	c.2234C>T	c.(2233-2235)tCg>tTg	p.S745L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	745					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCTGACTTTTCGCTCACTACC	0.562000													28	128					0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118968979	118968979	+	Silent	SNP	C	C	T	rs149544140		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:118968979C>T	ENST00000276201.2	-	11	1383	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	UPF3B_ENST00000345865.2_Silent_p.A425A	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	438	Necessary for interaction with RBM8A and for activating NMD.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AAAGCTGCATCGCTGGACGAT	0.413000													13	134					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15569398	15569398	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:15569398C>T	ENST00000343625.6	-	7	811	c.731G>A	c.(730-732)cGg>cAg	p.R244Q		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	244	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CCGCACATCCCGCTCGGCACC	0.637000													6	17					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98808760	98808760	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:98808760C>T	ENST00000266058.4	-	14	1662	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	SLIT1_ENST00000371070.4_Missense_Mutation_p.A473T|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	473	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCTTGTTGGCGAGGCGCCGG	0.632000													29	86					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121514306	121514306	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:121514306G>C	ENST00000310864.6	-	10	1198	c.984C>G	c.(982-984)ttC>ttG	p.F328L	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	328	IQ 2.				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTTTTTACCTGAAACTCCTCT	0.348000													36	133					0	0	1	0	0
RRP1B	23076	broad.mit.edu	37	21	45107525	45107525	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:45107525G>T	ENST00000340648.4	+	13	1387	c.1270G>T	c.(1270-1272)Gaa>Taa	p.E424*		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	424					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCCATCCCTGGAACAGAACCG	0.612000													9	30					0.000274275	0.000276369	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140165895	140165895	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:140165895G>A	ENST00000504120.2	+	1	20	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PCDHA1_ENST00000378133.3_Missense_Mutation_p.G7E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.G7E	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAGGAGAGGGGGCCTGGGA	0.502000													22	103					0	0	1	0	0
FAM212A	389119	broad.mit.edu	37	3	49841713	49841713	+	Missense_Mutation	SNP	T	T	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:49841713T>G	ENST00000333323.4	+	2	290	c.157T>G	c.(157-159)Tcg>Gcg	p.S53A		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	51																	GCTTAGGGCCTCGGGTGCCTT	0.617000													19	69					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7636513	7636513	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:7636513G>T	ENST00000572933.1	+	5	1968	c.508G>T	c.(508-510)Gcc>Tcc	p.A170S	DNAH2_ENST00000082259.3_Missense_Mutation_p.A170S|DNAH2_ENST00000389173.2_Missense_Mutation_p.A170S|DNAH2_ENST00000570791.1_Missense_Mutation_p.A170S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	170	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTATATCCCGGCCCTGCTTCG	0.547000													32	105					1.62565e-12	1.73753e-12	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100883892	100883892	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:100883892G>A	ENST00000358544.2	+	61	11898	c.11787G>A	c.(11785-11787)caG>caA	p.Q3929Q	VPS13B_ENST00000357162.2_Silent_p.Q3904Q|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3929					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCACAGTGCAGCTCAAGCAGC	0.552000													113	191					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	27009227	27009227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:27009227C>T	ENST00000382009.3	+	8	1582	c.1315C>T	c.(1315-1317)Cag>Tag	p.Q439*	STIM2_ENST00000465503.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000412829.2_Nonsense_Mutation_p.Q439*|STIM2_ENST00000467011.1_Nonsense_Mutation_p.Q352*|STIM2_ENST00000237364.5_Nonsense_Mutation_p.Q439*|STIM2_ENST00000467087.1_Nonsense_Mutation_p.Q352*	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	352					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				AGATGCACTTCAGAAATGGCT	0.403000													26	68					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122269330	122269330	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:122269330C>A	ENST00000334010.7	-	4	1260	c.839G>T	c.(838-840)cGg>cTg	p.R280L	CADPS2_ENST00000449022.2_Missense_Mutation_p.R280L|CADPS2_ENST00000412584.2_Missense_Mutation_p.R280L|CADPS2_ENST00000313070.7_Missense_Mutation_p.R280L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	280					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAATTGCAGCCGGCCATCAAG	0.358000													5	23					3.59834e-05	3.6678e-05	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76234275	76234275	+	Silent	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:76234275A>G	ENST00000529032.1	+	11	1761	c.1761A>G	c.(1759-1761)aaA>aaG	p.K587K	C11orf30_ENST00000525919.1_Silent_p.K588K|C11orf30_ENST00000524767.1_Silent_p.K602K|C11orf30_ENST00000334736.3_Silent_p.K587K|C11orf30_ENST00000525038.1_Silent_p.K602K|C11orf30_ENST00000524490.1_Silent_p.K503K|C11orf30_ENST00000533248.1_Silent_p.K601K|C11orf30_ENST00000343878.3_Silent_p.K587K			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	587	Thr-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CTACAGGAAAAGGAACGACCA	0.438000													4	122					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21205842	21205842	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:21205842C>T	ENST00000602326.1	-	18	3029	c.2446G>A	c.(2446-2448)Gca>Aca	p.A816T	EIF4G3_ENST00000400422.1_Missense_Mutation_p.A810T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A530T|EIF4G3_ENST00000374937.3_Missense_Mutation_p.A816T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A810T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A300T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A414T	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	810	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACATGTTTGCGTAAGCCACA	0.448000													16	153					0	0	1	0	0
ARNT	405	broad.mit.edu	37	1	150830924	150830924	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:150830924T>C	ENST00000358595.5	-	2	238	c.38A>G	c.(37-39)gAt>gGt	p.D13G	ARNT_ENST00000354396.2_Missense_Mutation_p.D13G|ARNT_ENST00000515192.1_Missense_Mutation_p.D4G|ARNT_ENST00000505755.1_Missense_Mutation_p.D13G	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	13					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGATGGTACATCTGATGTCAT	0.433000			T	ETV6	AML								12	30					0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850179	58850179	+	Silent	SNP	G	G	A	rs139283341	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567000													20	92					0	0	1	0	0
NPY4R	5540	broad.mit.edu	37	10	47087657	47087657	+	Missense_Mutation	SNP	C	C	T	rs142588212		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:47087657C>T	ENST00000374312.1	+	3	1293	c.874C>T	c.(874-876)Cat>Tat	p.H292Y	NPY4R_ENST00000395716.1_Missense_Mutation_p.H292Y	NM_005972.4	NP_005963.3			neuropeptide Y receptor Y4																		AGACTGGCACCATGAGGCCAT	0.557000													11	69					0	0	1	0	0
AES	166	broad.mit.edu	37	19	3054017	3054017	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3054017G>A	ENST00000221561.8	-	7	774	c.595C>T	c.(595-597)Ctg>Ttg	p.L199L	AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Silent_p.L132L|AES_ENST00000586839.1_Silent_p.L76L	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	132					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		AGCTGGGACAGCTGGTGGGCT	0.721000													7	17					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29911088	29911088	+	Silent	SNP	G	G	C	rs45505094		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:29911088G>C	ENST00000396634.1	+	5	728	c.387G>C	c.(385-387)tcG>tcC	p.S129S	HLA-A_ENST00000376809.5_Silent_p.S129S|HLA-A_ENST00000376806.5_Silent_p.S129S|HLA-A_ENST00000376802.2_Silent_p.S129S			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	129	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						ACGTGGGGTCGGACGGGCGCT	0.687000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	33					0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21377690	21377690	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:21377690G>C	ENST00000256958.2	+	14	1878	c.1782G>C	c.(1780-1782)ctG>ctC	p.L594L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	594					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGGGGCTCTGATTGATACAA	0.373000													14	155					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996950	144996950	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:144996950C>T	ENST00000322810.4	-	31	7727	c.7558G>A	c.(7558-7560)Gag>Aag	p.E2520K	PLEC_ENST00000354958.2_Missense_Mutation_p.E2361K|PLEC_ENST00000356346.3_Missense_Mutation_p.E2369K|PLEC_ENST00000527096.1_Missense_Mutation_p.E2406K|PLEC_ENST00000436759.2_Missense_Mutation_p.E2410K|PLEC_ENST00000345136.3_Missense_Mutation_p.E2383K|PLEC_ENST00000398774.2_Missense_Mutation_p.E2351K|PLEC_ENST00000354589.3_Missense_Mutation_p.E2383K|PLEC_ENST00000357649.2_Missense_Mutation_p.E2387K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2520	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTGAGGCGCTCAGCCTCAGCG	0.697000													4	12					0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609862	95609862	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:95609862G>T	ENST00000395505.2	-	3	1191	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZNF484_ENST00000395506.3_Missense_Mutation_p.Q405K|ZNF484_ENST00000332591.6_Missense_Mutation_p.Q367K|ZNF484_ENST00000375495.3_Missense_Mutation_p.Q403K|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGGATTTTCTGATGCATACTT	0.343000													15	85					0.000566183	0.000568336	1	1	0
HLA-B	3106	broad.mit.edu	37	6	31323241	31323241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:31323241G>A	ENST00000412585.2	-	4	776	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCAGTGTCCTGAGTTTGGTCC	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				26	95					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152275779	152275779	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:152275779G>A	ENST00000368799.1	-	3	11618	c.11583C>T	c.(11581-11583)tcC>tcT	p.S3861S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3861	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCTAACACTGGATCCCTGGC	0.577000									Ichthyosis				53	237					0	0	1	0	0
ADI1	55256	broad.mit.edu	37	2	3504628	3504628	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:3504628G>A	ENST00000382093.5	-	3	3196	c.359C>T	c.(358-360)aCg>aTg	p.T120M	ADI1_ENST00000327435.6_Missense_Mutation_p.T126M			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	126					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CGCGGGGAGCGTCACCATGTC	0.617000													7	23					0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16980532	16980532	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:16980532G>A	ENST00000379803.1	+	14	2178	c.2164G>A	c.(2164-2166)Ggg>Agg	p.G722R	SIN3B_ENST00000595541.1_Missense_Mutation_p.G280R|SIN3B_ENST00000248054.5_Missense_Mutation_p.G690R	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	722					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAGCCCCCAGGGGCAGACCAC	0.682000													5	44					0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48761721	48761721	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr8:48761721C>G	ENST00000314191.2	-	55	7327	c.7271G>C	c.(7270-7272)aGa>aCa	p.R2424T	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2424T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2425					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCACCTATGTCTCATGACTTG	0.463000								Non-homologous end-joining					23	67					0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242440973	242440973	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:242440973C>T	ENST00000316586.4	-	3	530	c.181G>A	c.(181-183)Gag>Aag	p.E61K	STK25_ENST00000543554.1_5'UTR|STK25_ENST00000405883.3_Intron|STK25_ENST00000405585.1_Intron|STK25_ENST00000403346.3_Missense_Mutation_p.E61K|STK25_ENST00000401869.1_Missense_Mutation_p.E61K|STK25_ENST00000535007.1_5'UTR	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	61	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-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;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TGGATGTCCTCGATCTCATCC	0.572000													14	38					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49725031	49725031	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:49725031G>A	ENST00000551245.1	+	13	2514	c.2403G>A	c.(2401-2403)ctG>ctA	p.L801L	TROAP_ENST00000257909.3_Silent_p.L711L|TROAP_ENST00000547923.1_Silent_p.L390L			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm		p.L711L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CCCTAGCCCTGAGGGAGCGCC	0.577000													15	46					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	43					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51618085	51618085	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:51618085C>A	ENST00000371117.3	-	57	9139	c.8864G>T	c.(8863-8865)cGa>cTa	p.R2955L	PKHD1_ENST00000340994.4_Missense_Mutation_p.R2955L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2955					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)					TTGTATATTTCGGGTCAACAG	0.458000													14	79					9.31168e-06	9.60267e-06	1	1	0
USP31	57478	broad.mit.edu	37	16	23091426	23091426	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:23091426G>A	ENST00000219689.7	-	13	2016	c.2017C>T	c.(2017-2019)Cct>Tct	p.P673S		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	673					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		ACCACGTGAGGTGTCATGTCC	0.527000													23	95					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50807953	50807953	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:50807953G>A	ENST00000263046.4	+	7	1218	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	TFAP2B_ENST00000393655.3_Missense_Mutation_p.R342Q			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	342					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					TATTTGAACCGGCAGCACACA	0.512000													26	102					0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23311907	23311907	+	Silent	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:23311907C>G	ENST00000311852.6	+	4	930	c.669C>G	c.(667-669)gtC>gtG	p.V223V	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	223						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CTTGGACTGTCAGGAATGAGG	0.557000													8	81					0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974119	46974119	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:46974119C>G	ENST00000313683.10	-	2	479	c.174G>C	c.(172-174)aaG>aaC	p.K58N	PNMAL1_ENST00000602246.1_Missense_Mutation_p.K58N|PNMAL1_ENST00000438932.2_Missense_Mutation_p.K58N	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	58										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcacaaaaatcttgttgagca	0.547000													6	75					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98543938	98543938	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:98543938G>C	ENST00000186436.5	-	2	428	c.200C>G	c.(199-201)tCa>tGa	p.S67*	TMEM131_ENST00000425805.2_Nonsense_Mutation_p.S18*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	67						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATGCTCTCTGACTGAACGAA	0.299000													5	25					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185184677	185184677	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:185184677C>T	ENST00000265026.3	+	10	1903	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	MAP3K13_ENST00000443863.1_Silent_p.I379I|MAP3K13_ENST00000446828.1_Silent_p.I316I|MAP3K13_ENST00000424227.1_Silent_p.I523I|MAP3K13_ENST00000535426.1_Silent_p.I379I	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	523					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTCGTCCTATCATCCATCCCA	0.483000													19	66					0	0	1	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221509	56221509	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:56221509C>T	ENST00000357606.3	-	3	1223	c.934G>A	c.(934-936)Ggg>Agg	p.G312R	DNAJC14_ENST00000317287.5_Missense_Mutation_p.G312R|DNAJC14_ENST00000317269.3_Missense_Mutation_p.G312R			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	312					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CAGTAAAACCCCTGGCTTAGA	0.512000													24	47					0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85779543	85779543	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:85779543G>T	ENST00000233838.3	-	10	1515	c.1435C>A	c.(1435-1437)Cag>Aag	p.Q479K	GGCX_ENST00000430215.3_Missense_Mutation_p.Q422K	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	479					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	GCCCACCTCTGCTGGAAGCGG	0.478000											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	76					1.52009e-12	1.63798e-12	1	1	0
C17orf75	64149	broad.mit.edu	37	17	30666951	30666951	+	Silent	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:30666951G>A	ENST00000577809.1	-	3	277	c.228C>T	c.(226-228)tcC>tcT	p.S76S	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Silent_p.S76S	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	76					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TATCTGCCAAGGAGAGGCTTG	0.478000													12	47					0	0	1	0	0
MRPL43	84545	broad.mit.edu	37	10	102746724	102746724	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr10:102746724C>T	ENST00000318325.2	-	3	300	c.247G>A	c.(247-249)Gct>Act	p.A83T	MRPL43_ENST00000370241.3_Missense_Mutation_p.A83T|MRPL43_ENST00000370234.4_Missense_Mutation_p.A83T|MRPL43_ENST00000370242.4_Missense_Mutation_p.A83T|MRPL43_ENST00000370236.1_Missense_Mutation_p.A83T|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000318364.8_Missense_Mutation_p.A83T|MRPL43_ENST00000342071.1_Missense_Mutation_p.A83T|MRPL43_ENST00000299179.5_Missense_Mutation_p.A83T	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	83					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TCGCGCACAGCCCCGTTAACT	0.647000													3	30					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179550270	179550270	+	Missense_Mutation	SNP	C	C	G	rs79232842	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:179550270C>G	ENST00000589042.1	-	128	32591	c.32367G>C	c.(32365-32367)aaG>aaC	p.K10789N	TTN_ENST00000591111.1_Missense_Mutation_p.K10472N|TTN_ENST00000342992.6_Missense_Mutation_p.K9545N|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10472	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTCTCTTAGAAATAA	0.358000													3	21					0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4901301	4901301	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr7:4901301G>C	ENST00000404991.1	-	1	324	c.138C>G	c.(136-138)ctC>ctG	p.L46L	RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	46					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGAAGGGCCTGAGGGTTTCTA	0.537000													5	24					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49064753	49064753	+	Silent	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:49064753G>T	ENST00000380950.2	-	13	1900	c.1713C>A	c.(1711-1713)ctC>ctA	p.L571L	CEP152_ENST00000325747.5_Silent_p.L478L|CEP152_ENST00000559398.1_5'UTR|CEP152_ENST00000399334.3_Silent_p.L571L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	571					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GACAGTCTTTGAGGTCATTTT	0.383000													32	156					1.62565e-12	1.73753e-12	1	1	0
RRP1B	23076	broad.mit.edu	37	21	45107752	45107752	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr21:45107752G>C	ENST00000340648.4	+	13	1614	c.1497G>C	c.(1495-1497)caG>caC	p.Q499H		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	499					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		ACATGTCTCAGAGTGGCCCGA	0.572000													14	58					0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4623846	4623846	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:4623846A>G	ENST00000346341.2	+	13	1126	c.1036_splice	c.e13-1	p.A346_splice	ARRB2_ENST00000381488.6_Intron|ARRB2_ENST00000574954.1_Intron|ARRB2_ENST00000412477.3_Intron|ARRB2_ENST00000572457.1_Intron|ARRB2_ENST00000575877.1_Intron|ARRB2_ENST00000269260.2_Intron|ARRB2_ENST00000571206.1_Intron	NM_001257331.1|NM_199004.1	NP_001244260.1|NP_945355.1	P32121	ARRB2_HUMAN	arrestin, beta 2	360	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCTTCCAGCACCCACCCCCA	0.617000													10	27					0	0	1	0	0
AES	166	broad.mit.edu	37	19	3054000	3054000	+	Silent	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:3054000G>C	ENST00000221561.8	-	7	791	c.612C>G	c.(610-612)gcC>gcG	p.A204A	AES_ENST00000592330.1_Intron|AES_ENST00000327141.4_Silent_p.A137A|AES_ENST00000586839.1_Silent_p.A81A	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	137					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		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)		GCAGGGCCAGGGCCTGCAGCT	0.736000													7	24					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072987	98072987	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr3:98072987G>A	ENST00000354924.2	+	1	290	c.290G>A	c.(289-291)tGt>tAt	p.C97Y	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CTGTATGAATGTATGGCACAA	0.453000													10	321					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99532804	99532804	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr13:99532804C>T	ENST00000376460.1	-	26	2948	c.2868G>A	c.(2866-2868)ctG>ctA	p.L956L	DOCK9_ENST00000339416.2_Silent_p.L957L|DOCK9_ENST00000448493.2_Silent_p.L968L|DOCK9_ENST00000442173.1_Silent_p.L956L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	957					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GACATACCTTCAGTAGTTTGT	0.448000													12	26					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118454640	118454640	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:118454640C>G	ENST00000369443.4	-	5	784	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	GDAP2_ENST00000369442.3_Missense_Mutation_p.E179Q	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	179	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTGCATCCTCTAAAGGATAA	0.373000													15	67					0	0	1	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73491106	73491106	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr14:73491106G>C	ENST00000556143.1	-	2	831	c.111C>G	c.(109-111)tgC>tgG	p.C37W	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.C37W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.C37W	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	37						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GCAGACTGCAGCACTCATCAC	0.562000													22	71					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003184	42003184	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:42003184C>T	ENST00000219905.7	+	8	2902	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	MGA_ENST00000566586.1_Silent_p.F907F|MGA_ENST00000570161.1_Silent_p.F907F|MGA_ENST00000545763.1_Silent_p.F907F|MGA_ENST00000389936.4_Silent_p.F907F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	907						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGCAACTTTCAGTGGCCGAA	0.398000													22	152					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111665870	111665870	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:111665870C>T	ENST00000374647.5	-	15	2030	c.1723G>A	c.(1723-1725)Gat>Aat	p.D575N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.D226N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	575					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATCTGGCCATCAGCCAGCTGT	0.403000													41	144					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56126259	56126259	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr15:56126259G>C	ENST00000508342.1	-	22	3963	c.3664C>G	c.(3664-3666)Cag>Gag	p.Q1222E	NEDD4_ENST00000338963.2_Missense_Mutation_p.Q1150E|NEDD4_ENST00000506154.1_Missense_Mutation_p.Q1206E|NEDD4_ENST00000435532.3_Missense_Mutation_p.Q803E			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1222	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGTATAACCTGATGATTTGCA	0.323000													20	98					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155730332	155730332	+	Missense_Mutation	SNP	A	A	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:155730332A>C	ENST00000437809.1	-	24	5134	c.5012T>G	c.(5011-5013)cTc>cGc	p.L1671R	GON4L_ENST00000271883.5_Missense_Mutation_p.L1671R|GON4L_ENST00000368331.1_Missense_Mutation_p.L1671R			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1671	PAH 1.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCTTTTGTAGAGATCTACAGC	0.473000													4	146					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602303	10602303	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:10602303G>C	ENST00000171111.5	-	3	1822	c.1275C>G	c.(1273-1275)atC>atG	p.I425M	KEAP1_ENST00000393623.2_Missense_Mutation_p.I425M	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CGACGGCATAGATGTGGCCAT	0.662000													6	18					0	0	1	0	0
PIRT	644139	broad.mit.edu	37	17	10728737	10728737	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:10728737C>T	ENST00000580256.1	-	2	864	c.226G>A	c.(226-228)Gcc>Acc	p.A76T		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	76						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						AAGGTGTAGGCCAAGCAGGTG	0.567000													6	62					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44221252	44221252	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:44221252G>C	ENST00000371554.1	+	12	2306	c.2092G>C	c.(2092-2094)Gag>Cag	p.E698Q	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.E698Q|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.E698Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	698					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGTGGCAGCAGAGGAACCCAA	0.463000											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	60					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70300527	70300527	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:70300527G>C	ENST00000310961.5	+	7	884	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	LRRC7_ENST00000370958.1_Missense_Mutation_p.E189Q|LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.E151Q			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	151						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CGCCTTTCTTGAATTTCTTCC	0.383000													16	71					0	0	1	0	0
KLF8	11279	broad.mit.edu	37	X	56310859	56310859	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:56310859G>C	ENST00000468660.1	+	6	1300	c.1012G>C	c.(1012-1014)Gac>Cac	p.D338H	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						TCGGTGCACAGACTGCAACCG	0.562000													8	37					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79425896	79425896	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:79425896G>C	ENST00000307745.7	+	24	5506	c.5506G>C	c.(5506-5508)Gag>Cag	p.E1836Q																								GGAAGACTTTGAGTTCGACGA	0.672000													3	25					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19560228	19560228	+	Silent	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:19560228C>T	ENST00000397821.3	-	16	1997	c.1707G>A	c.(1705-1707)gcG>gcA	p.A569A	SH3KBP1_ENST00000541422.1_Silent_p.A308A|SH3KBP1_ENST00000379698.4_Silent_p.A532A|SH3KBP1_ENST00000379716.1_Silent_p.A331A	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	569					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GGGAGGGCGCCGCTGAGGACA	0.642000													7	64					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133384784	133384784	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:133384784G>A	ENST00000204726.3	-	5	1429	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S	GOLGA3_ENST00000545875.1_Missense_Mutation_p.P291S|GOLGA3_ENST00000450791.2_Missense_Mutation_p.P291S|GOLGA3_ENST00000456883.2_Missense_Mutation_p.P291S|GOLGA3_ENST00000537452.1_Missense_Mutation_p.P291S	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	291					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGTGTCGGGGGACAGGCTG	0.587000													29	96					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152728177	152728177	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:152728177C>T	ENST00000367255.5	-	45	7296	c.6695G>A	c.(6694-6696)aGa>aAa	p.R2232K	SYNE1_ENST00000448038.1_Missense_Mutation_p.R2239K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R2269K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R2232K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R2239K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2232					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTTCAGCTCTGAGGTGGTT	0.408000										HNSCC(10;0.0054)			14	76					0	0	1	0	0
GADD45A	1647	broad.mit.edu	37	1	68152040	68152040	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:68152040G>C	ENST00000370986.4	+	3	588	c.154G>C	c.(154-156)Gat>Cat	p.D52H	GADD45A_ENST00000370985.3_Missense_Mutation_p.D18H|GADD45A_ENST00000460575.1_3'UTR	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	52					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						CAGCGACCCCGATAACGTGGT	0.701000													5	44					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18678497	18678497	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:18678497G>A	ENST00000395667.1	+	13	2559	c.2327G>A	c.(2326-2328)cGa>cAa	p.R776Q	FBXW10_ENST00000308799.4_Intron|FBXW10_ENST00000301938.4_Missense_Mutation_p.R723Q|FBXW10_ENST00000395665.4_Missense_Mutation_p.R776Q	NM_001267585.1	NP_001254514.1	Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	776										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAATCACCCCGAAGAGATGGT	0.413000													10	35					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47595145	47595145	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr11:47595145C>T	ENST00000533290.1	-	3	1683	c.969G>A	c.(967-969)atG>atA	p.M323I	KBTBD4_ENST00000526005.1_Missense_Mutation_p.M298I|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.M298I|KBTBD4_ENST00000430070.2_Missense_Mutation_p.M314I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	298										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TGCACTTCCACATGCGCCGTG	0.587000													9	78					0	0	1	0	0
DUS2	54920	broad.mit.edu	37	16	68104954	68104954	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:68104954C>G	ENST00000565263.1	+	12	1247	c.753C>G	c.(751-753)atC>atG	p.I251M	DUS2L_ENST00000432752.1_Missense_Mutation_p.I216M|DUS2L_ENST00000358896.6_Missense_Mutation_p.I251M	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		251					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		ACCCATCTATCTTCCTCAAGG	0.507000													29	87					0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228398	77228398	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr16:77228398G>T	ENST00000248248.3	+	4	992	c.642G>T	c.(640-642)caG>caT	p.Q214H	MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Missense_Mutation_p.Q68H|MON1B_ENST00000439557.2_Missense_Mutation_p.Q105H	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	214							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CACACAAGCAGAACTATGACC	0.627000													24	79					2.98393e-07	3.11367e-07	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58121213	58121213	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:58121213G>A	ENST00000184956.6	-	20	3273	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	HEATR6_ENST00000585976.1_Missense_Mutation_p.S974L	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1086							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGGGAGGTCCGAGGCACTGGC	0.463000													30	84					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339216	131339216	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:131339216G>A	ENST00000372739.3	+	6	876	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	SPTAN1_ENST00000372731.4_Missense_Mutation_p.E256K|SPTAN1_ENST00000358161.5_Missense_Mutation_p.E256K	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	256					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGGGGCAGCAGAAGTTCAGCG	0.572000													12	68					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66935696	66935696	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:66935696C>T	ENST00000359742.4	-	3	411	c.171G>A	c.(169-171)atG>atA	p.M57I	GRIP1_ENST00000398016.3_Missense_Mutation_p.M57I|GRIP1_ENST00000286445.7_Missense_Mutation_p.M57I			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	57	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CTTCCTTCTTCATCAGCTCGA	0.458000													33	150					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803071	54803071	+	Silent	SNP	C	C	T	rs147831783	byFrequency	TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr19:54803071C>T	ENST00000391745.1	-	8	973	c.657G>A	c.(655-657)tcG>tcA	p.S219S	LILRA3_ENST00000251390.3_Silent_p.S202S|LILRA3_ENST00000391744.3_Intron					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGAGCGCGCGAGTCATAAC	0.607000													29	136					0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207245651	207245651	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr1:207245651G>T	ENST00000367080.3	+	15	1577	c.1453G>T	c.(1453-1455)Ggg>Tgg	p.G485W	PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000545806.1_Missense_Mutation_p.G452W|PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000541914.1_Intron	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	485	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTACAGTGTTGGGAGCCGGCC	0.547000													25	92					1.17739e-12	1.27914e-12	1	1	0
KRT3	3850	broad.mit.edu	37	12	53187000	53187000	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:53187000C>T	ENST00000417996.2	-	3	948	c.874G>A	c.(874-876)Gat>Aat	p.D292N	KRT3_ENST00000309505.3_Missense_Mutation_p.D292N	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	292	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TTGATTTCATCCTCATATCTG	0.423000													3	16					0	0	1	0	0
OR7E62P	26479	broad.mit.edu	37	2	71283122	71283123	+	RNA	INS	-	-	T	rs35074164		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr2:71283122_71283123insT	ENST00000434990.1	-	0	61																											GGCACCACCCCCAGGAGTGGTG	0.530													2	4	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187540893	187540894	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr4:187540893_187540894delAC	ENST00000441802.2	-	10	7055_7056	c.6846_6847delGT	c.(6844-6849)gtttfs	p.VF2282fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2282	Cadherin 20.				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						TGCTGAGCAAACACAGGAGGGT	0.465										HNSCC(5;0.00058)			54	75	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708854	+	RNA	DEL	A	A	-	rs60396213		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr5:180708854delA	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGG	0.692													3	6	---	---	---	---					
LAMA4	3910	broad.mit.edu	37	6	112510351	112510353	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr6:112510351_112510353delCTT	ENST00000230538.7	-	7	1170_1172	c.773_775delAAG	c.(772-777)ggt>g	p.EG258del	LAMA4_ENST00000389463.4_In_Frame_Del_p.EG258del|LAMA4_ENST00000522006.1_In_Frame_Del_p.EG258del|LAMA4_ENST00000424408.2_In_Frame_Del_p.EG258del	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	258	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTCAAAACCTTCTTCCAAGCA	0.468													22	69	---	---	---	---					
C9orf131	138724	broad.mit.edu	37	9	35043206	35043207	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:35043206_35043207delCA	ENST00000312292.5	+	2	627_628	c.580_581delCA	c.(580-582)gfs	p.Q194fs	C9orf131_ENST00000354479.5_Frame_Shift_Del_p.Q121fs|C9orf131_ENST00000421362.2_Frame_Shift_Del_p.Q146fs	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	194										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GAGAAAAAGCCAGCTCTTCTGG	0.559													21	133	---	---	---	---					
RP11-383M4.6	0	broad.mit.edu	37	9	84564861	84564861	+	RNA	DEL	A	A	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr9:84564861delA	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GACCAGTGCTAAAAACACTGT	0.488													2	4	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49422626	49422627	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr12:49422626_49422627delAG	ENST00000301067.7	-	45	14365_14366	c.14366_14367delCT	c.(14365-14367)tfs	p.S4789fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CTGCAGCAGCAGAGACTGTGAG	0.540													22	88	---	---	---	---					
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr17:56833644_56833646delGAG	ENST00000308249.2	+	1	415_417	c.286_288delGAG	c.(286-288)del	p.E100del		NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	100	Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ggttgagggtgaggaggaggagg	0.783													3	3	---	---	---	---					
RP11-161I6.2	0	broad.mit.edu	37	18	2089466	2089466	+	RNA	DEL	A	A	-	rs58767171		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chr18:2089466delA	ENST00000579097.1	-	0	310																											CTGCCCCCCCACCCACTCACC	0.527													5	3	---	---	---	---					
RP1-154K9.2	0	broad.mit.edu	37	X	42384559	42384560	+	RNA	INS	-	-	A	rs60076548		TCGA-UF-A7JT-01A-11D-A34J-08	TCGA-UF-A7JT-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06d3218b-ed58-4a9b-87f3-a38d0f6d6d93	36ef8d35-97c8-4fdf-80ed-15732b676e8e	g.chrX:42384559_42384560insA	ENST00000411879.1	+	0	523																											CCAGCCAAGGGAAAAAAAAAAA	0.327													5	6	---	---	---	---					
