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	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	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	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
PLCG2	5336	broad.mit.edu	37	16	81953096	81953097	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81953096_81953097GG>TT	uc002fgt.2	+	20	2214_2215	c.2062_2063GG>TT	c.(2062-2064)GGC>TTC	p.G688F	PLCG2_uc010chg.1_Missense_Mutation_p.G688F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	688	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---	capture+wgs		Missense	DNP	81953096	81953097	12462	16	GG	TT	TT	43	43	PLCG2	TT	2	2
LRRC16B	90668	broad.mit.edu	37	14	24534457	24534457	+	Frame_Shift_Del	DEL	G	-	-			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24534457delG	uc001wlj.2	+	33	3528	c.3371delG	c.(3370-3372)CGGfs	p.R1124fs	LRRC16B_uc001wlk.2_Frame_Shift_Del_p.R220fs	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	1124										ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---	capture_indel		Frame_Shift_Del	DEL	24534457	24534457	9346	14	G	-	-	39	39	LRRC16B	-	5	5
TP53	7157	broad.mit.edu	37	17	7576904	7576904	+	Indel	DEL	G	-	-			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7576904delG	uc002gim.2	-	9	1136	c.942delC	c.(940-942)TCCfs	p.S314fs	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Frame_Shift_Del_p.S314fs|TP53_uc010cne.1_RNA|TP53_uc010cnf.1_Frame_Shift_Del_p.S182fs|TP53_uc010cng.1_Frame_Shift_Del_p.S182fs|TP53_uc002gii.1_Frame_Shift_Del_p.S182fs|TP53_uc010cnh.1_Frame_Shift_Del_p.S314fs|TP53_uc010cni.1_Frame_Shift_Del_p.S314fs|TP53_uc002gij.2_Frame_Shift_Del_p.S314fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	314	Bipartite nuclear localization signal.|Interaction with HIPK1 (By similarity).|Interaction with CARM1.		S -> F (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.S315fs*22(2)|p.S315fs*30(1)|p.?(1)|p.S314F(1)|p.S314fs*25(1)|p.L308fs*15(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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)			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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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)			---	---	---	---	capture_indel		Indel	Indel	7576904	7576904	16923	17	G	-	-	35	35	TP53	-	5	5
GIPC3	126326	broad.mit.edu	37	19	3590186	3590187	+	Frame_Shift_Ins	INS	-	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3590186_3590187insA	uc002lyd.3	+	6	964_965	c.937_938insA	c.(937-939)TAGfs	p.*313fs		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	313										breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture_indel		Frame_Shift_Ins	INS	3590186	3590187	6662	19	-	A	A	53	53	GIPC3	A	5	5
IL12RB1	3594	broad.mit.edu	37	19	18186558	18186558	+	Indel	DEL	C	-	-			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18186558delC	uc002nhw.1	-	7	764	c.700_splice	c.e7+1	p.E234_splice	IL12RB1_uc010xqb.1_Splice_Site_p.E234_splice|IL12RB1_uc002nhx.1_Splice_Site_p.E274_splice|IL12RB1_uc002nhy.2_Splice_Site_p.E234_splice	NM_005535	NP_005526			interleukin 12 receptor, beta 1 isoform 1						cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			pancreas(1)	1																		---	---	---	---	capture_indel		Indel	Indel	18186558	18186558	7927	19	C	-	-	18	18	IL12RB1	-	5	5
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131129929_131129934delGACGGG	uc002trc.2	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)CAGACGGGG>CAG	p.TG378del	PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	378_379				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)																	---	---	---	---	capture_indel		In_Frame_Del	DEL	131129929	131129934	13239	2	GACGGG	-	-	33	33	PTPN18	-	5	5
THSD7B	80731	broad.mit.edu	37	2	137990482	137990483	+	Frame_Shift_Ins	INS	-	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:137990482_137990483insC	uc002tva.1	+	8	1836_1837	c.1836_1837insC	c.(1834-1839)TGTCCCfs	p.C612fs	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Frame_Shift_Ins_p.C502fs	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---	capture_indel		Frame_Shift_Ins	INS	137990482	137990483	16408	2	-	C	C	58	58	THSD7B	C	5	5
CCR3	1232	broad.mit.edu	37	3	46307342	46307343	+	Indel	INS	-	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46307342_46307343insA	uc003cpg.1	+	4	1236_1237	c.693_694insA	c.(691-696)AGTAAAfs	p.S231fs	CCR3_uc003cpi.1_Frame_Shift_Ins_p.S231fs|CCR3_uc003cpj.1_Frame_Shift_Ins_p.S231fs|CCR3_uc003cpk.1_Frame_Shift_Ins_p.S252fs|CCR3_uc010hjb.1_Frame_Shift_Ins_p.S249fs|CCR3_uc003cpl.1_Frame_Shift_Ins_p.S264fs	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	231_232	Cytoplasmic (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)														---	---	---	---	capture_indel		Indel	Indel	46307342	46307343	3069	3	--	A	A	57	57	CCR3	A	5	5
FRS3	10817	broad.mit.edu	37	6	41738856	41738856	+	Indel	DEL	G	-	-			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41738856delG	uc003orc.1	-	7	1224	c.980delC	c.(979-981)CCAfs	p.P327fs		NM_006653	NP_006644	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	327					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			ovary(2)	2	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---	capture_indel		Indel	Indel	41738856	41738856	6312	6	G	-	-	47	47	FRS3	-	5	5
C6orf153	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs3833662		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	1	30_35	c.22_27delGCCGGG	c.(22-27)GCCGGGdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	14_15					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---	capture_indel		In_Frame_Del	DEL	42989414	42989419	2442	6	GCCGGG	-	-	38	38	C6orf153	-	5	5
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	GCC	GCC	rs140579959	by1000genomes	TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1586653_1586654insGCC	uc003skv.3	-	9	1493_1494	c.1176_1177insGGC	c.(1174-1179)insGGC	p.392_393insG	TMEM184A_uc003skt.3_In_Frame_Ins_p.371_372insG|TMEM184A_uc003skw.3_In_Frame_Ins_p.197_198insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392_393						integral to membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)														---	---	---	---	capture_indel		In_Frame_Ins	INS	1586653	1586654	16638	7	-	GCC	GCC	11	11	TMEM184A	GCC	5	5
SSPO	23145	broad.mit.edu	37	7	149512845	149512846	+	Frame_Shift_Ins	INS	-	AGGTGGTC	AGGTGGTC	rs146626309	by1000genomes	TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149512845_149512846insAGGTGGTC	uc010lpk.2	+	77	10852_10853	c.10852_10853insAGGTGGTC	c.(10852-10854)GAGfs	p.E3618fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	3618					cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---	capture_indel		Frame_Shift_Ins	INS	149512845	149512846	15705	7	-	AGGTGGTC	AGGTGGTC	33	33	SSPO	AGGTGGTC	5	5
RGS22	26166	broad.mit.edu	37	8	101076179	101076181	+	Indel	DEL	CTT	-	-			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101076179_101076181delCTT	uc003yjb.1	-	8	1010_1012	c.815_817delAAG	c.(814-819)GAAGGA>GGA	p.E272del	RGS22_uc003yja.1_In_Frame_Del_p.E91del|RGS22_uc003yjc.1_In_Frame_Del_p.E260del|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	272	Poly-Glu.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)															---	---	---	---	capture_indel		Indel	Indel	101076179	101076181	13779	8	CTT	-	-	24	24	RGS22	-	5	5
CDKN2A	1029	broad.mit.edu	37	9	21974819	21974819	+	Frame_Shift_Del	DEL	G	-	-			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21974819delG	uc003zpk.2	-	1	220	c.8delC	c.(7-9)CCGfs	p.P3fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Frame_Shift_Del_p.P3fs|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	3					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(24)|p.P3_P11del(2)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	---	---	---	capture_indel		Frame_Shift_Del	DEL	21974819	21974819	3290	9	G	-	-	39	39	CDKN2A	-	5	5
MDGA2	161357	broad.mit.edu	37	14	47770700	47770701	+	Missense_Mutation	DNP	CC	GG	GG			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47770700_47770701CC>GG	uc001wwj.3	-			c.126_127GG>CC	c.(124-129)GAGGAG>GACCAG	p.42_43EE>DQ	MDGA2_uc001wwi.3_5'UTR|MDGA2_uc010ani.2_5'UTR	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN	MAM domain containing 1 isoform 1	42_43	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(3)|large_intestine(1)|pancreas(1)	5																		---	---	---	---	wgs		Missense_Mutation	DNP	47770700	47770701	9796	14	CC	GG	GG	30	30	MDGA2	GG	3	3
FMN2	56776	broad.mit.edu	37	1	240255569	240255571	+	In_Frame_Del	DEL	GGC	-	-	rs35817759		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240255569_240255571delGGC	uc010pyd.1	+	1	385_387	c.160_162delGGC	c.(160-162)GGCdel	p.G59del	FMN2_uc010pye.1_In_Frame_Del_p.G59del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	59					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---	wgs_indel		In_Frame_Del	DEL	240255569	240255571	6192	1	GGC	-	-	43	43	FMN2	-	5	5
MPHOSPH9	10198	broad.mit.edu	37	12	123706321	123706322	+	Frame_Shift_Ins	INS	-	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123706321_123706322insA	uc001uel.2	-	1	120_121	c.13_14insT	c.(13-15)TCTfs	p.S5fs	MPHOSPH9_uc010tal.1_5'UTR|MPHOSPH9_uc010tam.1_Non-coding_Transcript|MPHOSPH9_uc001uem.2_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	5					M phase of mitotic cell cycle	centriole|Golgi membrane					0	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)														---	---	---	---	wgs_indel		Frame_Shift_Ins	INS	123706321	123706322	10120	12	-	A	A	33	33	MPHOSPH9	A	5	5
SECISBP2L	9728	broad.mit.edu	37	15	49303951	49303951	+	Frame_Shift_Del	DEL	G	-	-			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49303951delG	uc001zxe.1	-	13	1975	c.1841delC	c.(1840-1842)CCAfs	p.P614fs	SECISBP2L_uc001zxd.1_Frame_Shift_Del_p.P569fs|SECISBP2L_uc010bep.1_Frame_Shift_Del_p.P376fs	NM_014701	NP_055516	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	614										breast(1)|skin(1)	2																		---	---	---	---	wgs_indel		Frame_Shift_Del	DEL	49303951	49303951	14493	15	G	-	-	47	47	SECISBP2L	-	5	5
CHD5	26038	broad.mit.edu	37	1	6169927	6169927	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6169927C>T	uc001amb.1	-	38	5606	c.5506G>A	c.(5506-5508)GCC>ACC	p.A1836T	CHD5_uc001alz.1_Missense_Mutation_p.A693T|CHD5_uc001ama.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1836					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	6169927	6169927	3462	1	C	T	T	27	27	CHD5	T	1	1
RCC2	55920	broad.mit.edu	37	1	17740092	17740092	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17740092C>A	uc001bal.2	-	8	1195	c.1148G>T	c.(1147-1149)GGG>GTG	p.G383V	RCC2_uc001bam.2_Missense_Mutation_p.G383V	NM_001136204	NP_001129676	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	383	RCC1 5.				cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle					0		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	17740092	17740092	13643	1	C	A	A	22	22	RCC2	A	2	2
ARID1A	8289	broad.mit.edu	37	1	27105921	27105921	+	Nonsense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27105921G>A	uc001bmv.1	+	20	5905	c.5532G>A	c.(5530-5532)TGG>TGA	p.W1844*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.W1627*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.W690*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.W172*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.W86*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1844					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding			ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)				Mis|N|F|S|D		clear cell ovarian carcinoma|RCC								---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	27105921	27105921	928	1	G	A	A	42	42	ARID1A	A	5	2
PTPRU	10076	broad.mit.edu	37	1	29605999	29605999	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29605999C>A	uc001bru.2	+	10	1705	c.1595C>A	c.(1594-1596)CCG>CAG	p.P532Q	PTPRU_uc001brv.2_Missense_Mutation_p.P532Q|PTPRU_uc001brw.2_Missense_Mutation_p.P532Q|PTPRU_uc009vtq.2_Missense_Mutation_p.P532Q|PTPRU_uc009vtr.2_Missense_Mutation_p.P532Q	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	532	Extracellular (Potential).|Fibronectin type-III 3.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	7		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)														---	---	---	---	capture		Missense_Mutation	SNP	29605999	29605999	13271	1	C	A	A	23	23	PTPRU	A	1	1
MACF1	23499	broad.mit.edu	37	1	39823352	39823352	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39823352C>A	uc010oiu.1	+	9	7181	c.7050C>A	c.(7048-7050)CCC>CCA	p.P2350P	MACF1_uc010ois.1_Silent_p.P1848P|MACF1_uc001cda.1_Silent_p.P1756P|MACF1_uc001cdc.1_Silent_p.P935P|MACF1_uc001cdb.1_Silent_p.P935P	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3915	Spectrin 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---	capture		Silent	SNP	39823352	39823352	9521	1	C	A	A	23	23	MACF1	A	1	1
FAM183A	440585	broad.mit.edu	37	1	43613721	43613721	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43613721C>A	uc009vwo.2	+	1	128	c.99C>A	c.(97-99)CTC>CTA	p.L33L		NM_001101376	NP_001094846	A6NL82	F183A_HUMAN	hCG23177	33										ovary(3)	3																		---	---	---	---	capture		Silent	SNP	43613721	43613721	5717	1	C	A	A	32	32	FAM183A	A	2	2
ERI3	79033	broad.mit.edu	37	1	44804965	44804965	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44804965C>A	uc001clt.2	-	3	482	c.241G>T	c.(241-243)GCA>TCA	p.A81S	ERI3_uc010okv.1_Intron|ERI3_uc009vxg.2_Missense_Mutation_p.A81S|ERI3_uc010okw.1_Missense_Mutation_p.A3S|ERI3_uc001clu.2_Missense_Mutation_p.A3S	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	81						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	44804965	44804965	5422	1	C	A	A	28	28	ERI3	A	2	2
SSBP3	23648	broad.mit.edu	37	1	54722846	54722846	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54722846G>A	uc001cxe.2	-	7	759	c.461C>T	c.(460-462)CCG>CTG	p.P154L	SSBP3_uc001cxf.2_Intron|SSBP3_uc001cxg.2_Missense_Mutation_p.P127L	NM_145716	NP_663768	Q9BWW4	SSBP3_HUMAN	single stranded DNA binding protein 3 isoform a	154	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	single-stranded DNA binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	54722846	54722846	15696	1	G	A	A	39	39	SSBP3	A	1	1
SGIP1	84251	broad.mit.edu	37	1	67147840	67147840	+	Missense_Mutation	SNP	G	A	A	rs143518805	byFrequency	TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67147840G>A	uc001dcr.2	+	15	1320	c.1103G>A	c.(1102-1104)CGC>CAC	p.R368H	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.R135H	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	368	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	67147840	67147840	14697	1	G	A	A	38	38	SGIP1	A	1	1
CTTNBP2NL	55917	broad.mit.edu	37	1	112999055	112999055	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112999055C>A	uc001ebx.2	+	6	1169	c.941C>A	c.(940-942)ACA>AAA	p.T314K	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	314						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	112999055	112999055	4205	1	C	A	A	17	17	CTTNBP2NL	A	2	2
ASPM	259266	broad.mit.edu	37	1	197069780	197069780	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197069780C>A	uc001gtu.2	-	18	8858	c.8601G>T	c.(8599-8601)CAG>CAT	p.Q2867H	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q715H	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	2867	IQ 32.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	197069780	197069780	1075	1	C	A	A	28	28	ASPM	A	2	2
CACNA1S	779	broad.mit.edu	37	1	201057042	201057042	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201057042C>A	uc001gvv.2	-	7	1143	c.916G>T	c.(916-918)GGG>TGG	p.G306W		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	306	Extracellular (Potential).|I.				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---	capture		Missense_Mutation	SNP	201057042	201057042	2663	1	C	A	A	23	23	CACNA1S	A	1	1
OR2M2	391194	broad.mit.edu	37	1	248343383	248343383	+	Silent	SNP	G	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248343383G>C	uc010pzf.1	+	1	96	c.96G>C	c.(94-96)CTG>CTC	p.L32L		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|skin(1)	4	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)															---	---	---	---	capture+wgs		Silent	SNP	248343383	248343383	11416	1	G	C	C	47	47	OR2M2	C	3	3
NRG3	10718	broad.mit.edu	37	10	84745280	84745280	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:84745280G>T	uc001kco.2	+	9	2037	c.2010G>T	c.(2008-2010)CTG>CTT	p.L670L	NRG3_uc010qlz.1_Silent_p.L669L|NRG3_uc001kcp.2_Silent_p.L473L|NRG3_uc001kcq.2_Silent_p.L320L|NRG3_uc001kcr.2_Silent_p.L344L	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	694	Cytoplasmic (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)														---	---	---	---	capture+wgs		Silent	SNP	84745280	84745280	11054	10	G	T	T	45	45	NRG3	T	2	2
PIK3AP1	118788	broad.mit.edu	37	10	98386609	98386609	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98386609C>T	uc001kmq.2	-	10	1653	c.1525G>A	c.(1525-1527)GAA>AAA	p.E509K	PIK3AP1_uc001kmo.2_Missense_Mutation_p.E108K|PIK3AP1_uc001kmp.2_Missense_Mutation_p.E331K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	509						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	98386609	98386609	12332	10	C	T	T	30	30	PIK3AP1	T	2	2
PDZD7	79955	broad.mit.edu	37	10	102781698	102781698	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102781698C>A	uc001kso.1	-	6	939	c.724G>T	c.(724-726)GAC>TAC	p.D242Y	PDZD7_uc001ksn.2_Missense_Mutation_p.D242Y	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	242	PDZ 2.					cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	102781698	102781698	12125	10	C	A	A	30	30	PDZD7	A	2	2
OR56B1	387748	broad.mit.edu	37	11	5758307	5758307	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5758307G>T	uc001mbt.1	+	1	561	c.561G>T	c.(559-561)CTG>CTT	p.L187L	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron|OR56B1_uc001mbs.1_Silent_p.L187L|OR56B1_uc009yev.1_Silent_p.L187L	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)														---	---	---	---	capture+wgs		Silent	SNP	5758307	5758307	11547	11	G	T	T	48	48	OR56B1	T	2	2
OR52E6	390078	broad.mit.edu	37	11	5862830	5862830	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5862830G>T	uc010qzq.1	-	1	298	c.298C>A	c.(298-300)CTT>ATT	p.L100I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	100	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	5862830	5862830	11527	11	G	T	T	35	35	OR52E6	T	2	2
NLRP10	338322	broad.mit.edu	37	11	7982580	7982580	+	Silent	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:7982580A>G	uc001mfv.1	-	2	596	c.579T>C	c.(577-579)GGT>GGC	p.G193G		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	193	NACHT.						ATP binding			lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1)	9				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)														---	---	---	---	capture+wgs		Silent	SNP	7982580	7982580	10875	11	A	G	G	14	14	NLRP10	G	4	4
ALKBH3	221120	broad.mit.edu	37	11	43923170	43923170	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43923170G>A	uc001mxs.2	+	8	1007	c.564G>A	c.(562-564)GTG>GTA	p.V188V	ALKBH3_uc009ykp.2_RNA|ALKBH3_uc001mxt.2_RNA|ALKBH3_uc009ykq.2_Silent_p.V41V	NM_139178	NP_631917	Q96Q83	ALKB3_HUMAN	AlkB homolog 3	188	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0					Vitamin C(DB00126)								Direct_reversal_of_damage					---	---	---	---	capture+wgs		Silent	SNP	43923170	43923170	531	11	G	A	A	47	47	ALKBH3	A	2	2
OR4S2	219431	broad.mit.edu	37	11	55418886	55418886	+	Silent	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55418886C>T	uc001nhs.1	+	1	507	c.507C>T	c.(505-507)CCC>CCT	p.P169P		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)																---	---	---	---	capture+wgs		Silent	SNP	55418886	55418886	11493	11	C	T	T	21	21	OR4S2	T	2	2
OR9G9	504191	broad.mit.edu	37	11	56468490	56468490	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56468490C>A	uc010rjn.1	+	1	627	c.627C>A	c.(625-627)CCC>CCA	p.P209P		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture+wgs		Silent	SNP	56468490	56468490	11663	11	C	A	A	23	23	OR9G9	A	1	1
DTX4	23220	broad.mit.edu	37	11	58962721	58962721	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58962721G>T	uc001nns.2	+	7	1672	c.1415G>T	c.(1414-1416)GGG>GTG	p.G472V	DTX4_uc001nnr.2_Missense_Mutation_p.G366V	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	472					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)																---	---	---	---	capture		Missense_Mutation	SNP	58962721	58962721	4982	11	G	T	T	43	43	DTX4	T	2	2
AHNAK	79026	broad.mit.edu	37	11	62301162	62301162	+	Nonsense_Mutation	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62301162T>A	uc001ntl.2	-	5	1027	c.727A>T	c.(727-729)AAG>TAG	p.K243*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	243					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	62301162	62301162	417	11	T	A	A	62	62	AHNAK	A	5	4
PCNXL3	399909	broad.mit.edu	37	11	65402891	65402891	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65402891G>A	uc001oey.2	+	31	5156	c.5156G>A	c.(5155-5157)CGG>CAG	p.R1719Q	PCNXL3_uc001oez.2_Missense_Mutation_p.R606Q	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1719						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	65402891	65402891	12013	11	G	A	A	39	39	PCNXL3	A	1	1
PDE2A	5138	broad.mit.edu	37	11	72316193	72316193	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72316193C>A	uc010rrc.1	-	4	555	c.312G>T	c.(310-312)GAG>GAT	p.E104D	PDE2A_uc001oso.2_Missense_Mutation_p.E83D|PDE2A_uc010rra.1_Missense_Mutation_p.E97D|PDE2A_uc001osn.2_Missense_Mutation_p.E97D|PDE2A_uc010rrb.1_Missense_Mutation_p.E95D|PDE2A_uc010rrd.1_Intron	NM_002599	NP_002590	O00408	PDE2A_HUMAN	phosphodiesterase 2A isoform 1	104					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			ovary(2)|breast(1)|skin(1)	4			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)													---	---	---	---	capture		Missense_Mutation	SNP	72316193	72316193	12057	11	C	A	A	24	24	PDE2A	A	2	2
GDPD5	81544	broad.mit.edu	37	11	75160079	75160079	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75160079C>A	uc001owo.3	-	10	1194	c.657G>T	c.(655-657)ATG>ATT	p.M219I	GDPD5_uc001owp.3_Missense_Mutation_p.M219I|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.M81I|GDPD5_uc009yud.2_Missense_Mutation_p.M100I|GDPD5_uc009yue.1_Missense_Mutation_p.M107I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain	219	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	75160079	75160079	6595	11	C	A	A	21	21	GDPD5	A	2	2
MED17	9440	broad.mit.edu	37	11	93528152	93528152	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:93528152G>A	uc001pem.3	+	6	1213	c.938G>A	c.(937-939)CGG>CAG	p.R313Q		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	313					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	93528152	93528152	9824	11	G	A	A	39	39	MED17	A	1	1
FAM55D	54827	broad.mit.edu	37	11	114465423	114465423	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114465423G>T	uc001ppc.2	-	2	240	c.59C>A	c.(58-60)TCC>TAC	p.S20Y	FAM55D_uc001ppd.2_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	hypothetical protein LOC54827 isoform 1	20						extracellular region				ovary(2)|skin(2)	4		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	114465423	114465423	5809	11	G	T	T	41	41	FAM55D	T	2	2
DSCAML1	57453	broad.mit.edu	37	11	117335863	117335863	+	Silent	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117335863C>G	uc001prh.1	-	17	3242	c.3240G>C	c.(3238-3240)CGG>CGC	p.R1080R		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1020	Extracellular (Potential).|Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---	capture+wgs		Silent	SNP	117335863	117335863	4953	11	C	G	G	22	22	DSCAML1	G	3	3
OR4D5	219875	broad.mit.edu	37	11	123810699	123810699	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123810699A>G	uc001pzk.1	+	1	376	c.376A>G	c.(376-378)ATT>GTT	p.I126V		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	126	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	123810699	123810699	11464	11	A	G	G	8	8	OR4D5	G	4	4
DCP1B	196513	broad.mit.edu	37	12	2055431	2055431	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2055431T>C	uc001qjx.1	-	9	1875	c.1795A>G	c.(1795-1797)ATA>GTA	p.I599V	DCP1B_uc010sdy.1_Missense_Mutation_p.I497V	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	599					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	2055431	2055431	4470	12	T	C	C	49	49	DCP1B	C	4	4
TPI1	7167	broad.mit.edu	37	12	6979285	6979285	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6979285C>A	uc001qrk.2	+	6	654	c.616C>A	c.(616-618)CGT>AGT	p.R206S	TPI1_uc010sfo.1_Missense_Mutation_p.R124S	NM_000365	NP_000356	P60174	TPIS_HUMAN	triosephosphate isomerase 1 isoform 1	206					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity				0																OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	6979285	6979285	16947	12	C	A	A	23	23	TPI1	A	1	1
C12orf59	120939	broad.mit.edu	37	12	10337966	10337966	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10337966T>C	uc001qxr.2	+	3	753	c.136T>C	c.(136-138)TGG>CGG	p.W46R	C12orf59_uc001qxq.2_Missense_Mutation_p.W26R			Q4KMG9	CL059_HUMAN	RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;	46	Helical; (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	10337966	10337966	1746	12	T	C	C	51	51	C12orf59	C	4	4
ETV6	2120	broad.mit.edu	37	12	12022436	12022436	+	Missense_Mutation	SNP	G	T	T	rs150089916		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12022436G>T	uc001qzz.2	+	5	816	c.542G>T	c.(541-543)CGC>CTC	p.R181L	ETV6_uc001raa.1_5'UTR	NM_001987	NP_001978	P41212	ETV6_HUMAN	ets variant 6	181						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/NTRK3(234)|ETV6/JAK2(11)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)						T	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5	congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL								---	---	---	---	capture+wgs		Missense_Mutation	SNP	12022436	12022436	5476	12	G	T	T	38	38	ETV6	T	1	1
SLCO1B1	10599	broad.mit.edu	37	12	21331930	21331930	+	Missense_Mutation	SNP	G	T	T	rs147421160		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21331930G>T	uc001req.3	+	7	807	c.703G>T	c.(703-705)GTG>TTG	p.V235L		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family,	235	Helical; Name=5; (Potential).				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			ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1)	8					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	21331930	21331930	15220	12	G	T	T	40	40	SLCO1B1	T	1	1
KIF21A	55605	broad.mit.edu	37	12	39751147	39751147	+	Silent	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:39751147A>T	uc001rly.2	-	9	1454	c.1308T>A	c.(1306-1308)CGT>CGA	p.R436R	KIF21A_uc001rlx.2_Silent_p.R436R|KIF21A_uc001rlz.2_Silent_p.R436R|KIF21A_uc010skl.1_Silent_p.R436R|KIF21A_uc001rma.1_Silent_p.R444R	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	436	Potential.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)																---	---	---	---	capture+wgs		Silent	SNP	39751147	39751147	8599	12	A	T	T	6	6	KIF21A	T	4	4
ADAMTS20	80070	broad.mit.edu	37	12	43824220	43824220	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:43824220C>A	uc010skx.1	-	23	3316	c.3316G>T	c.(3316-3318)GAG>TAG	p.E1106*	ADAMTS20_uc001rno.1_Nonsense_Mutation_p.E260*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.E260*	NM_025003	NP_079279	P59510	ATS20_HUMAN	a disintegrin-like and metalloprotease with	1106	TSP type-1 6.					proteinaceous extracellular matrix	zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19	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)														---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	43824220	43824220	267	12	C	A	A	29	29	ADAMTS20	A	5	2
MLL2	8085	broad.mit.edu	37	12	49431879	49431879	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49431879C>A	uc001rta.3	-	34	9260	c.9260G>T	c.(9259-9261)CGG>CTG	p.R3087L		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	3087					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	49431879	49431879	10011	12	C	A	A	23	23	MLL2	A	1	1
KRT81	3887	broad.mit.edu	37	12	52681085	52681085	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52681085C>A	uc001sab.2	-	7	1098	c.1048G>T	c.(1048-1050)GTG>TTG	p.V350L	KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_5'UTR	NM_002281	NP_002272	Q14533	KRT81_HUMAN	keratin, hair, basic, 1	350	Rod.|Coil 2.					keratin filament	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	52681085	52681085	8810	12	C	A	A	18	18	KRT81	A	2	2
CSAD	51380	broad.mit.edu	37	12	53565181	53565181	+	Nonsense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53565181G>A	uc001sby.2	-	7	622	c.496C>T	c.(496-498)CAG>TAG	p.Q166*	CSAD_uc001sbw.2_Intron|CSAD_uc009zmt.2_Intron|CSAD_uc010snx.1_Nonsense_Mutation_p.Q193*|CSAD_uc001sbz.2_Nonsense_Mutation_p.Q166*|CSAD_uc009zmu.2_Intron|CSAD_uc001sca.3_RNA|CSAD_uc010sny.1_3'UTR	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	166					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			ovary(1)	1					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)									Hereditary_Prostate_Cancer				---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	53565181	53565181	4064	12	G	A	A	45	45	CSAD	A	5	2
OR6C6	283365	broad.mit.edu	37	12	55688725	55688725	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55688725G>T	uc010sph.1	-	1	292	c.292C>A	c.(292-294)CAA>AAA	p.Q98K		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	98	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|skin(1)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	55688725	55688725	11604	12	G	T	T	45	45	OR6C6	T	2	2
DGKA	1606	broad.mit.edu	37	12	56333313	56333313	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56333313C>A	uc001sij.2	+	9	973	c.709C>A	c.(709-711)CTC>ATC	p.L237I	DGKA_uc009zoc.1_Missense_Mutation_p.L237I|DGKA_uc001sih.1_Missense_Mutation_p.L125I|DGKA_uc001sii.1_Missense_Mutation_p.L95I|DGKA_uc009zod.1_Missense_Mutation_p.L156I|DGKA_uc009zoe.1_Missense_Mutation_p.R237S|DGKA_uc001sik.2_Missense_Mutation_p.L237I|DGKA_uc001sil.2_Missense_Mutation_p.L237I|DGKA_uc001sim.2_Missense_Mutation_p.L237I|DGKA_uc001sin.2_Missense_Mutation_p.L237I|DGKA_uc009zof.2_5'UTR|DGKA_uc001sio.2_5'UTR	NM_001345	NP_001336	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	237	Phorbol-ester/DAG-type 1.				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			ovary(3)|pancreas(1)	4					Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	56333313	56333313	4644	12	C	A	A	23	23	DGKA	A	1	1
PIP4K2C	79837	broad.mit.edu	37	12	57994176	57994176	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57994176G>A	uc001sou.2	+	7	900	c.769G>A	c.(769-771)GAG>AAG	p.E257K	PIP4K2C_uc001sot.2_Missense_Mutation_p.E257K|PIP4K2C_uc010srs.1_Missense_Mutation_p.E239K|PIP4K2C_uc010srt.1_Missense_Mutation_p.E209K	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	257	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	57994176	57994176	12362	12	G	A	A	33	33	PIP4K2C	A	2	2
RFX4	5992	broad.mit.edu	37	12	107155033	107155033	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107155033G>T	uc001tlr.2	+	18	2060	c.1994G>T	c.(1993-1995)AGA>ATA	p.R665I	RFX4_uc001tlt.2_Missense_Mutation_p.R674I|RFX4_uc001tlv.2_Missense_Mutation_p.R571I	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	665					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	107155033	107155033	13737	12	G	T	T	33	33	RFX4	T	2	2
PWP1	11137	broad.mit.edu	37	12	108096770	108096770	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108096770G>T	uc001tmo.1	+	9	952	c.865G>T	c.(865-867)GGG>TGG	p.G289W	PWP1_uc009zuu.1_Missense_Mutation_p.G289W	NM_007062	NP_008993	Q13610	PWP1_HUMAN	periodic tryptophan protein 1	289	WD 2.				transcription, DNA-dependent	nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	108096770	108096770	13301	12	G	T	T	43	43	PWP1	T	2	2
MSI1	4440	broad.mit.edu	37	12	120802555	120802555	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120802555C>T	uc001tye.1	-	5	335	c.271G>A	c.(271-273)GAC>AAC	p.D91N		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	91	RRM 1.				nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	120802555	120802555	10268	12	C	T	T	29	29	MSI1	T	2	2
WDR66	144406	broad.mit.edu	37	12	122413496	122413496	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122413496G>A	uc009zxk.2	+	19	3053	c.2911G>A	c.(2911-2913)GAC>AAC	p.D971N		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	971							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	122413496	122413496	17890	12	G	A	A	37	37	WDR66	A	1	1
GOLGA3	2802	broad.mit.edu	37	12	133398645	133398645	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133398645G>T	uc001ukz.1	-	2	629	c.70C>A	c.(70-72)CCC>ACC	p.P24T	GOLGA3_uc001ula.1_Missense_Mutation_p.P24T|GOLGA3_uc001ulb.2_Missense_Mutation_p.P24T	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	24	Pro-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	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)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	133398645	133398645	6823	12	G	T	T	43	43	GOLGA3	T	2	2
FRY	10129	broad.mit.edu	37	13	32785097	32785097	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32785097C>A	uc001utx.2	+	34	5013	c.4517C>A	c.(4516-4518)CCC>CAC	p.P1506H	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)														---	---	---	---	capture		Missense_Mutation	SNP	32785097	32785097	6313	13	C	A	A	22	22	FRY	A	2	2
NBEA	26960	broad.mit.edu	37	13	36026233	36026233	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36026233G>T	uc001uvb.2	+	40	6515	c.6309G>T	c.(6307-6309)ACG>ACT	p.T2103T	NBEA_uc010abi.2_Silent_p.T759T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	2103						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---	capture+wgs		Silent	SNP	36026233	36026233	10583	13	G	T	T	39	39	NBEA	T	1	1
COL4A1	1282	broad.mit.edu	37	13	110861758	110861758	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110861758G>T	uc001vqw.3	-	11	754	c.632C>A	c.(631-633)CCC>CAC	p.P211H	COL4A1_uc010agl.2_Missense_Mutation_p.P211H	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	211	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---	capture		Missense_Mutation	SNP	110861758	110861758	3827	13	G	T	T	43	43	COL4A1	T	2	2
RNASE1	6035	broad.mit.edu	37	14	21269781	21269781	+	Silent	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21269781A>G	uc001vyf.2	-	2	623	c.447T>C	c.(445-447)GAT>GAC	p.D149D	RNASE1_uc001vyg.2_Silent_p.D149D|RNASE1_uc001vyh.2_Silent_p.D149D|RNASE1_uc001vyi.2_Silent_p.D149D	NM_198232	NP_937875	P07998	RNAS1_HUMAN	pancreatic ribonuclease precursor	149						extracellular region	nucleic acid binding|pancreatic ribonuclease activity|protein binding				0	all_cancers(95;0.00671)	all_lung(585;0.235)	Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)														---	---	---	---	capture+wgs		Silent	SNP	21269781	21269781	13876	14	A	G	G	8	8	RNASE1	G	4	4
PNN	5411	broad.mit.edu	37	14	39644578	39644578	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39644578G>T	uc001wuw.3	+	1	192	c.95G>T	c.(94-96)CGG>CTG	p.R32L		NM_002687	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	32	Potential.|Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.|Necessary for interactions with KRT8, KRT18 and KRT19.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			ovary(1)	1	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)														---	---	---	---	capture		Missense_Mutation	SNP	39644578	39644578	12587	14	G	T	T	39	39	PNN	T	1	1
NID2	22795	broad.mit.edu	37	14	52472511	52472511	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52472511G>A	uc001wzo.2	-	21	4295	c.4061C>T	c.(4060-4062)CCA>CTA	p.P1354L	NID2_uc010tqs.1_Missense_Mutation_p.P1306L|NID2_uc010tqt.1_Missense_Mutation_p.P1354L	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	1354	LDL-receptor class B 5.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	52472511	52472511	10816	14	G	A	A	47	47	NID2	A	2	2
NRXN3	9369	broad.mit.edu	37	14	79423668	79423668	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79423668A>T	uc001xun.2	+	8	1731	c.1240A>T	c.(1240-1242)AGC>TGC	p.S414C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.S539C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	787	Laminin G-like 4.|Extracellular (Potential).				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	79423668	79423668	11072	14	A	T	T	3	3	NRXN3	T	4	4
TECPR2	9895	broad.mit.edu	37	14	102891422	102891422	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102891422G>T	uc001ylw.1	+	6	893	c.745G>T	c.(745-747)GGG>TGG	p.G249W	TECPR2_uc010txw.1_3'UTR|TECPR2_uc010awl.2_Missense_Mutation_p.G249W|TECPR2_uc010txx.1_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	249							protein binding			lung(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	102891422	102891422	16271	14	G	T	T	39	39	TECPR2	T	1	1
MAGEL2	54551	broad.mit.edu	37	15	23889145	23889145	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23889145G>T	uc001ywj.3	-	1	2031	c.1936C>A	c.(1936-1938)CGC>AGC	p.R646S		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	23889145	23889145	9572	15	G	T	T	39	39	MAGEL2	T	1	1
HERC2	8924	broad.mit.edu	37	15	28386616	28386616	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28386616C>A	uc001zbj.2	-	78	12083	c.11977G>T	c.(11977-11979)GGG>TGG	p.G3993W		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	3993	RCC1 13.				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			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		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)														---	---	---	---	capture		Missense_Mutation	SNP	28386616	28386616	7341	15	C	A	A	24	24	HERC2	A	2	2
LPCAT4	254531	broad.mit.edu	37	15	34656452	34656452	+	Silent	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34656452T>A	uc001zig.2	-	4	628	c.534A>T	c.(532-534)CGA>CGT	p.R178R	LPCAT4_uc010bav.1_Silent_p.R178R	NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	178					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding				0																		---	---	---	---	capture+wgs		Silent	SNP	34656452	34656452	9286	15	T	A	A	58	58	LPCAT4	A	4	4
TP53BP1	7158	broad.mit.edu	37	15	43714111	43714111	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43714111C>A	uc001zrs.2	-	19	4175	c.4027G>T	c.(4027-4029)GGG>TGG	p.G1343W	TP53BP1_uc010udp.1_Missense_Mutation_p.G1343W|TP53BP1_uc001zrq.3_Missense_Mutation_p.G1348W|TP53BP1_uc001zrr.3_Missense_Mutation_p.G1348W|TP53BP1_uc010udq.1_Missense_Mutation_p.G1348W	NM_005657	NP_005648	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1 isoform 3	1343					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)									Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---	capture+wgs		Missense_Mutation	SNP	43714111	43714111	16925	15	C	A	A	23	23	TP53BP1	A	1	1
MYO5C	55930	broad.mit.edu	37	15	52564918	52564918	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52564918G>A	uc010bff.2	-	6	746	c.609C>T	c.(607-609)GCC>GCT	p.A203A	MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA|MYO5C_uc010ugc.1_Silent_p.A166A	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	myosin VC	203	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14				all cancers(107;0.0137)														---	---	---	---	capture		Silent	SNP	52564918	52564918	10475	15	G	A	A	39	39	MYO5C	A	1	1
ADAM10	102	broad.mit.edu	37	15	58902590	58902590	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58902590C>T	uc002afd.1	-	14	2375	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.R343Q|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.R181Q	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	644	Extracellular (Potential).|Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	58902590	58902590	235	15	C	T	T	23	23	ADAM10	T	1	1
IL16	3603	broad.mit.edu	37	15	81585143	81585143	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81585143C>G	uc002bgh.3	+	12	2043	c.1667C>G	c.(1666-1668)TCT>TGT	p.S556C	IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Missense_Mutation_p.S556C|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Missense_Mutation_p.S598C|IL16_uc002bgg.2_Missense_Mutation_p.S556C|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Missense_Mutation_p.S50C|IL16_uc002bgk.2_5'Flank	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	556					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	81585143	81585143	7934	15	C	G	G	32	32	IL16	G	3	3
HAPLN3	145864	broad.mit.edu	37	15	89421484	89421484	+	Missense_Mutation	SNP	C	A	A	rs142655899		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89421484C>A	uc002bnc.2	-	5	928	c.800G>T	c.(799-801)CGG>CTG	p.R267L	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R329L	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	267	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)																	---	---	---	---	capture		Missense_Mutation	SNP	89421484	89421484	7238	15	C	A	A	23	23	HAPLN3	A	1	1
ANPEP	290	broad.mit.edu	37	15	90347487	90347487	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90347487G>T	uc002bop.3	-	6	1468	c.1176C>A	c.(1174-1176)CAC>CAA	p.H392Q		NM_001150	NP_001141	P15144	AMPN_HUMAN	membrane alanine aminopeptidase precursor	392	Extracellular.|Metalloprotease.	Zinc; catalytic (By similarity).			angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			ovary(3)|skin(1)	4	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	90347487	90347487	718	15	G	T	T	44	44	ANPEP	T	2	2
TMEM204	79652	broad.mit.edu	37	16	1584307	1584307	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1584307G>A	uc002cmc.2	+	2	429	c.31G>A	c.(31-33)GTG>ATG	p.V11M	IFT140_uc002clz.2_Intron|IFT140_uc002cmb.2_Intron|TMEM204_uc002cmd.2_Missense_Mutation_p.V11M|TMEM204_uc010brr.1_Missense_Mutation_p.V11M	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	transmembrane protein 204	11	Helical; (Potential).				response to stress	adherens junction|integral to membrane					0		Hepatocellular(780;0.219)																---	---	---	---	capture		Missense_Mutation	SNP	1584307	1584307	16664	16	G	A	A	40	40	TMEM204	A	1	1
NDUFB10	4716	broad.mit.edu	37	16	2009739	2009739	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2009739C>A	uc002cni.2	+	1	223	c.114C>A	c.(112-114)CCC>CCA	p.P38P	NDUFB10_uc002cnj.2_Silent_p.P38P	NM_004548	NP_004539	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	38					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding				0					NADH(DB00157)													---	---	---	---	capture		Silent	SNP	2009739	2009739	10678	16	C	A	A	23	23	NDUFB10	A	1	1
PPL	5493	broad.mit.edu	37	16	4934186	4934186	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4934186C>A	uc002cyd.1	-	22	4560	c.4470G>T	c.(4468-4470)CTG>CTT	p.L1490L		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1490	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Silent	SNP	4934186	4934186	12769	16	C	A	A	21	21	PPL	A	2	2
TNRC6A	27327	broad.mit.edu	37	16	24801321	24801321	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24801321C>A	uc002dmm.2	+	6	1472	c.1358C>A	c.(1357-1359)CCA>CAA	p.P453Q	TNRC6A_uc010bxs.2_Missense_Mutation_p.P200Q|TNRC6A_uc010vcc.1_Missense_Mutation_p.P200Q|TNRC6A_uc002dmn.2_Missense_Mutation_p.P200Q|TNRC6A_uc002dmo.2_Missense_Mutation_p.P200Q	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	453	Sufficient for interaction with EIF2C2.|Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	24801321	24801321	16881	16	C	A	A	21	21	TNRC6A	A	2	2
GTF3C1	2975	broad.mit.edu	37	16	27504600	27504600	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27504600T>A	uc002dov.1	-	17	2836	c.2796A>T	c.(2794-2796)GAA>GAT	p.E932D	GTF3C1_uc002dou.2_Missense_Mutation_p.E932D	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	932						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	27504600	27504600	7152	16	T	A	A	52	52	GTF3C1	A	4	4
PHKG2	5261	broad.mit.edu	37	16	30768035	30768035	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30768035G>A	uc002dzk.1	+	9	1019	c.926G>A	c.(925-927)CGG>CAG	p.R309Q	PHKG2_uc002dzi.1_Missense_Mutation_p.R313Q|PHKG2_uc002dzj.1_Missense_Mutation_p.R207Q	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	309	Calmodulin-binding (domain-N) (By similarity).				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	30768035	30768035	12271	16	G	A	A	39	39	PHKG2	A	1	1
C16orf93	90835	broad.mit.edu	37	16	30771646	30771646	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30771646G>T	uc002dzm.2	-	4	759	c.428C>A	c.(427-429)GCG>GAG	p.A143E	C16orf93_uc002dzn.2_Missense_Mutation_p.A143E|C16orf93_uc002dzo.2_Missense_Mutation_p.A106E|C16orf93_uc002dzp.2_Missense_Mutation_p.A143E|RNF40_uc002dzq.2_5'Flank|RNF40_uc010caa.2_5'Flank|RNF40_uc010cab.2_5'Flank|RNF40_uc010vfa.1_5'Flank|RNF40_uc002dzr.2_5'Flank|RNF40_uc010vfb.1_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	hypothetical protein LOC90835	143											0																		---	---	---	---	capture		Missense_Mutation	SNP	30771646	30771646	1899	16	G	T	T	38	38	C16orf93	T	1	1
MYH4	4622	broad.mit.edu	37	17	10360876	10360876	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10360876G>T	uc002gmn.2	-	16	1869	c.1758C>A	c.(1756-1758)GCC>GCA	p.A586A	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	586	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13																		---	---	---	---	capture+wgs		Silent	SNP	10360876	10360876	10432	17	G	T	T	39	39	MYH4	T	1	1
FLII	2314	broad.mit.edu	37	17	18154199	18154199	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18154199G>T	uc002gsr.1	-	14	1780	c.1729C>A	c.(1729-1731)CGC>AGC	p.R577S	FLII_uc002gsq.1_Missense_Mutation_p.R448S|FLII_uc010cpy.1_Missense_Mutation_p.R566S|FLII_uc010vxn.1_Missense_Mutation_p.R546S|FLII_uc010vxo.1_Missense_Mutation_p.R522S|FLII_uc002gss.1_Missense_Mutation_p.R576S	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	577	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(1)|skin(1)	2	all_neural(463;0.228)																	---	---	---	---	capture		Missense_Mutation	SNP	18154199	18154199	6163	17	G	T	T	39	39	FLII	T	1	1
SLC47A1	55244	broad.mit.edu	37	17	19451304	19451304	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19451304G>T	uc002gvy.1	+	4	399	c.313G>T	c.(313-315)GGG>TGG	p.G105W	SLC47A1_uc010vyy.1_RNA|SLC47A1_uc002gvx.2_Missense_Mutation_p.G105W|SLC47A1_uc010vyz.1_Missense_Mutation_p.G82W|SLC47A1_uc010cqp.1_Missense_Mutation_p.G105W|SLC47A1_uc010cqq.1_5'UTR	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	solute carrier family 47, member 1	105	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)																	---	---	---	---	capture		Missense_Mutation	SNP	19451304	19451304	15144	17	G	T	T	39	39	SLC47A1	T	1	1
NF1	4763	broad.mit.edu	37	17	29653203	29653203	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29653203A>T	uc002hgg.2	+	37	5534	c.5201A>T	c.(5200-5202)GAA>GTA	p.E1734V	NF1_uc002hgh.2_Missense_Mutation_p.E1713V|NF1_uc002hgi.1_Missense_Mutation_p.E746V|NF1_uc010cso.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	1734	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity			soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	29653203	29653203	10756	17	A	T	T	9	9	NF1	T	4	4
THRA	7067	broad.mit.edu	37	17	38240175	38240175	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38240175C>A	uc002htw.2	+	5	793	c.310C>A	c.(310-312)CGC>AGC	p.R104S	THRA_uc010cwp.1_Missense_Mutation_p.R104S|THRA_uc002htv.2_Missense_Mutation_p.R104S|THRA_uc002htx.2_Missense_Mutation_p.R104S	NM_003250	NP_003241	P10827	THA_HUMAN	thyroid hormone receptor, alpha isoform 2	104	NR C4-type.|Nuclear receptor.				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding				0	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---	capture		Missense_Mutation	SNP	38240175	38240175	16401	17	C	A	A	23	23	THRA	A	1	1
COL1A1	1277	broad.mit.edu	37	17	48266736	48266736	+	Splice_Site	SNP	A	G	G	rs113739104		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48266736A>G	uc002iqm.2	-	39	2955	c.2829_splice	c.e39+1	p.A943_splice		NM_000088	NP_000079			alpha 1 type I collagen preproprotein						axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---	capture+wgs		Splice_Site	SNP	48266736	48266736	3815	17	A	G	G	14	14	COL1A1	G	5	4
PCTP	58488	broad.mit.edu	37	17	53851197	53851197	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53851197G>T	uc002iul.3	+	4	561	c.452G>T	c.(451-453)CGG>CTG	p.R151L	PCTP_uc002ium.3_Missense_Mutation_p.R79L|PCTP_uc010dcg.2_Intron|PCTP_uc010dch.2_RNA	NM_021213	NP_067036	Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein isoform 1	151	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			lung(1)	1			BRCA - Breast invasive adenocarcinoma(1;0.00207)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	53851197	53851197	12028	17	G	T	T	39	39	PCTP	T	1	1
PRKCA	5578	broad.mit.edu	37	17	64299001	64299001	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64299001C>T	uc002jfp.1	+	1	76	c.32C>T	c.(31-33)ACG>ATG	p.T11M	PRKCA_uc002jfo.1_Translation_Start_Site	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	11					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	64299001	64299001	12950	17	C	T	T	19	19	PRKCA	T	1	1
ABCA9	10350	broad.mit.edu	37	17	66981089	66981089	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66981089G>T	uc002jhu.2	-	34	4459	c.4316C>A	c.(4315-4317)CCG>CAG	p.P1439Q	ABCA9_uc010dez.2_Missense_Mutation_p.P1401Q	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	1439	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---	capture		Missense_Mutation	SNP	66981089	66981089	40	17	G	T	T	39	39	ABCA9	T	1	1
RNMT	8731	broad.mit.edu	37	18	13752338	13752338	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13752338A>G	uc002ksk.1	+	9	1338	c.1271A>G	c.(1270-1272)AAT>AGT	p.N424S	RNMT_uc002ksl.1_Missense_Mutation_p.N424S|RNMT_uc002ksm.1_Missense_Mutation_p.N424S|RNMT_uc010dlk.2_Missense_Mutation_p.N424S|RNMT_uc010xae.1_RNA	NM_003799	NP_003790	O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	424					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	13752338	13752338	13985	18	A	G	G	4	4	RNMT	G	4	4
FHOD3	80206	broad.mit.edu	37	18	34298246	34298246	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34298246G>T	uc002kzt.1	+	15	2506	c.2409G>T	c.(2407-2409)ATG>ATT	p.M803I	FHOD3_uc002kzs.1_Missense_Mutation_p.M820I|FHOD3_uc010dmz.1_Missense_Mutation_p.M535I|FHOD3_uc010dna.1_Missense_Mutation_p.M123I	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	803					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)																---	---	---	---	capture		Missense_Mutation	SNP	34298246	34298246	6121	18	G	T	T	47	47	FHOD3	T	2	2
TCEB3B	51224	broad.mit.edu	37	18	44560772	44560772	+	Silent	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44560772A>T	uc002lcr.1	-	1	1217	c.864T>A	c.(862-864)GCT>GCA	p.A288A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	elongin A2	288					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			ovary(2)|large_intestine(1)|pancreas(1)	4																		---	---	---	---	capture+wgs		Silent	SNP	44560772	44560772	16208	18	A	T	T	7	7	TCEB3B	T	4	4
MED16	10025	broad.mit.edu	37	19	872083	872083	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:872083C>A	uc002lqd.1	-	12	2092	c.1941G>T	c.(1939-1941)CGG>CGT	p.R647R	MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.R636R|MED16_uc002lqf.2_Silent_p.R636R	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	647	WD 4.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture+wgs		Silent	SNP	872083	872083	9823	19	C	A	A	22	22	MED16	A	2	2
CLEC17A	388512	broad.mit.edu	37	19	14720890	14720890	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14720890A>G	uc010dzn.1	+	14	1096	c.1019A>G	c.(1018-1020)GAG>GGG	p.E340G	CLEC17A_uc002mzh.1_Silent_p.R286R|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_3'UTR|CLEC17A_uc010dzo.1_Silent_p.R303R			Q6ZS10	CL17A_HUMAN	SubName: Full=CLEC17A protein;	340	C-type lectin.|Extracellular (Potential).					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	14720890	14720890	3638	19	A	G	G	11	11	CLEC17A	G	4	4
EMR2	30817	broad.mit.edu	37	19	14883240	14883240	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14883240C>T	uc002mzp.1	-	5	725	c.269G>A	c.(268-270)GGG>GAG	p.G90E	EMR2_uc010xnw.1_Missense_Mutation_p.G90E|EMR2_uc002mzo.1_Missense_Mutation_p.G90E|EMR2_uc002mzq.1_Missense_Mutation_p.G90E|EMR2_uc002mzr.1_Missense_Mutation_p.G90E|EMR2_uc002mzs.1_Missense_Mutation_p.G90E|EMR2_uc002mzt.1_Missense_Mutation_p.G90E|EMR2_uc002mzu.1_Missense_Mutation_p.G90E|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	90	Extracellular (Potential).|EGF-like 2; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	14883240	14883240	5298	19	C	T	T	22	22	EMR2	T	2	2
EMR2	30817	broad.mit.edu	37	19	14884827	14884827	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14884827T>A	uc002mzp.1	-	4	578	c.122A>T	c.(121-123)AAT>ATT	p.N41I	EMR2_uc010xnw.1_Missense_Mutation_p.N41I|EMR2_uc002mzo.1_Missense_Mutation_p.N41I|EMR2_uc002mzq.1_Missense_Mutation_p.N41I|EMR2_uc002mzr.1_Missense_Mutation_p.N41I|EMR2_uc002mzs.1_Missense_Mutation_p.N41I|EMR2_uc002mzt.1_Missense_Mutation_p.N41I|EMR2_uc002mzu.1_Missense_Mutation_p.N41I|EMR2_uc010xnx.1_5'Flank|EMR2_uc010xny.1_RNA	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone	41	Extracellular (Potential).|EGF-like 1.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			lung(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	14884827	14884827	5298	19	T	A	A	52	52	EMR2	A	4	4
EPS15L1	58513	broad.mit.edu	37	19	16515428	16515428	+	Silent	SNP	G	T	T	rs142320391		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16515428G>T	uc002ndz.1	-	14	1405	c.1399C>A	c.(1399-1401)CGG>AGG	p.R467R	EPS15L1_uc002ndx.2_Silent_p.R467R|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Silent_p.R357R|EPS15L1_uc010xpf.1_Silent_p.R370R|EPS15L1_uc002nea.1_Silent_p.R467R|EPS15L1_uc010eah.1_Silent_p.R467R|EPS15L1_uc002neb.1_Silent_p.R313R|EPS15L1_uc002nec.1_Silent_p.R467R	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	467					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Silent	SNP	16515428	16515428	5386	19	G	T	T	39	39	EPS15L1	T	1	1
GTPBP3	84705	broad.mit.edu	37	19	17449228	17449228	+	Missense_Mutation	SNP	C	A	A	rs143759529	byFrequency;by1000genomes	TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17449228C>A	uc010eas.2	+	3	421	c.356C>A	c.(355-357)CCG>CAG	p.P119Q	GTPBP3_uc010xpo.1_Missense_Mutation_p.P141Q|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.P119Q|GTPBP3_uc002ngg.3_Missense_Mutation_p.P119Q|GTPBP3_uc002ngi.3_5'UTR	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial) isoform V	119					tRNA modification	mitochondrion	GTP binding|GTPase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17449228	17449228	7161	19	C	A	A	23	23	GTPBP3	A	1	1
TMEM161A	54929	broad.mit.edu	37	19	19231604	19231604	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19231604G>T	uc002nlg.2	-	11	1186	c.1156C>A	c.(1156-1158)CTC>ATC	p.L386I	TMEM161A_uc010eca.2_RNA|TMEM161A_uc002nlh.2_Missense_Mutation_p.L361I|TMEM161A_uc002nli.2_Missense_Mutation_p.L283I|TMEM161A_uc002nlj.2_Missense_Mutation_p.L261I	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	transmembrane protein 161A precursor	386	Helical; (Potential).				cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)	2			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)															---	---	---	---	capture		Missense_Mutation	SNP	19231604	19231604	16610	19	G	T	T	35	35	TMEM161A	T	2	2
C19orf2	8725	broad.mit.edu	37	19	30505964	30505964	+	Silent	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30505964A>G	uc002nsr.2	+	11	1626	c.1596A>G	c.(1594-1596)CAA>CAG	p.Q532Q	C19orf2_uc002nsq.2_Intron|C19orf2_uc002nss.2_Silent_p.Q492Q|C19orf2_uc002nst.2_Silent_p.Q456Q	NM_003796	NP_003787	O94763	RMP_HUMAN	RPB5-mediating protein isoform a	532					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)|kidney(1)	2	Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)	Hepatocellular(1079;0.137)|Renal(1328;0.228)	STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115)	STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture+wgs		Silent	SNP	30505964	30505964	1973	19	A	G	G	2	2	C19orf2	G	4	4
ZNF536	9745	broad.mit.edu	37	19	30935022	30935022	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30935022C>A	uc002nsu.1	+	2	691	c.553C>A	c.(553-555)CTG>ATG	p.L185M	ZNF536_uc010edd.1_Missense_Mutation_p.L185M	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)|skin(2)	11	Esophageal squamous(110;0.0834)																	---	---	---	---	capture		Missense_Mutation	SNP	30935022	30935022	18568	19	C	A	A	24	24	ZNF536	A	2	2
PEPD	5184	broad.mit.edu	37	19	33902627	33902627	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33902627C>A	uc002nur.3	-	11	904	c.769G>T	c.(769-771)GGA>TGA	p.G257*	PEPD_uc010xrr.1_Nonsense_Mutation_p.G216*|PEPD_uc010xrs.1_Nonsense_Mutation_p.G193*	NM_000285	NP_000276	P12955	PEPD_HUMAN	prolidase isoform 1	257					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			ovary(2)	2	Esophageal squamous(110;0.137)																	---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	33902627	33902627	12149	19	C	A	A	23	23	PEPD	A	5	1
ZNF30	90075	broad.mit.edu	37	19	35435155	35435155	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35435155G>T	uc010edp.1	+	5	1663	c.1285G>T	c.(1285-1287)GAA>TAA	p.E429*	ZNF30_uc002nxf.2_Nonsense_Mutation_p.E348*|ZNF30_uc010edq.1_Nonsense_Mutation_p.E430*|ZNF30_uc010edr.1_Nonsense_Mutation_p.E430*	NM_194325	NP_919306	P17039	ZNF30_HUMAN	zinc finger protein 30 isoform b	429	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)														---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	35435155	35435155	18422	19	G	T	T	45	45	ZNF30	T	5	2
RPS11	6205	broad.mit.edu	37	19	50000510	50000510	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50000510G>T	uc002pob.1	+	2	155	c.75G>T	c.(73-75)CTG>CTT	p.L25L	SNORD35B_uc002poc.2_5'Flank	NM_001015	NP_001006	P62280	RS11_HUMAN	ribosomal protein S11	25					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome				0		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)														---	---	---	---	capture		Silent	SNP	50000510	50000510	14100	19	G	T	T	47	47	RPS11	T	2	2
NLRP5	126206	broad.mit.edu	37	19	56565112	56565112	+	Missense_Mutation	SNP	C	A	A	rs61737647	by1000genomes	TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56565112C>A	uc002qmj.2	+	13	3237	c.3237C>A	c.(3235-3237)GAC>GAA	p.D1079E	NLRP5_uc002qmi.2_Missense_Mutation_p.D1060E	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1079	LRR 12.					mitochondrion|nucleolus	ATP binding			ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	56565112	56565112	10883	19	C	A	A	19	19	NLRP5	A	1	1
RNF144A	9781	broad.mit.edu	37	2	7137169	7137169	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:7137169T>C	uc002qys.2	+	3	554	c.112T>C	c.(112-114)TGC>CGC	p.C38R	RNF144A_uc002qyt.2_Intron	NM_014746	NP_055561	P50876	R144A_HUMAN	ring finger protein 144	38	RING-type 1; atypical.					Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			ovary(1)|kidney(1)	2	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	7137169	7137169	13922	2	T	C	C	59	59	RNF144A	C	4	4
ALMS1	7840	broad.mit.edu	37	2	73826590	73826590	+	Silent	SNP	A	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73826590A>C	uc002sje.1	+	19	11724	c.11613A>C	c.(11611-11613)TCA>TCC	p.S3871S	ALMS1_uc002sjf.1_Silent_p.S3827S|ALMS1_uc002sjh.1_Silent_p.S3257S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3869					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9																		---	---	---	---	capture+wgs		Silent	SNP	73826590	73826590	538	2	A	C	C	5	5	ALMS1	C	4	4
REG3A	5068	broad.mit.edu	37	2	79385541	79385541	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79385541C>A	uc002sod.1	-	3	499	c.244G>T	c.(244-246)GGG>TGG	p.G82W	REG3A_uc002soe.1_Missense_Mutation_p.G82W|REG3A_uc002sof.1_Missense_Mutation_p.G82W	NM_138938	NP_620355	Q06141	REG3A_HUMAN	pancreatitis-associated protein precursor	82	C-type lectin.				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	79385541	79385541	13681	2	C	A	A	21	21	REG3A	A	2	2
SNRNP200	23020	broad.mit.edu	37	2	96955695	96955695	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96955695G>T	uc002svu.2	-	21	2868	c.2782C>A	c.(2782-2784)CGA>AGA	p.R928R	SNRNP200_uc002svw.1_5'UTR	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	928						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10																		---	---	---	---	capture		Silent	SNP	96955695	96955695	15352	2	G	T	T	39	39	SNRNP200	T	1	1
C2orf55	343990	broad.mit.edu	37	2	99454634	99454634	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99454634C>T	uc002szf.1	-	3	481	c.187G>A	c.(187-189)GTC>ATC	p.V63I		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	hypothetical protein LOC343990	63											0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	99454634	99454634	2264	2	C	T	T	18	18	C2orf55	T	2	2
IL1RL2	8808	broad.mit.edu	37	2	102851497	102851497	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102851497G>T	uc002tbs.2	+	11	1564	c.1438G>T	c.(1438-1440)GGG>TGG	p.G480W	IL1RL2_uc002tbt.2_Missense_Mutation_p.G362W	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2 precursor	480	TIR.|Cytoplasmic (Potential).				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	102851497	102851497	7965	2	G	T	T	39	39	IL1RL2	T	1	1
HS6ST1	9394	broad.mit.edu	37	2	129026360	129026360	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:129026360C>A	uc002tpt.3	-	2	646	c.612G>T	c.(610-612)TGG>TGT	p.W204C		NM_004807	NP_004798	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	204	Lumenal (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			pancreas(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	129026360	129026360	7664	2	C	A	A	30	30	HS6ST1	A	2	2
THSD7B	80731	broad.mit.edu	37	2	138030108	138030108	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138030108G>A	uc002tva.1	+	10	2179	c.2179G>A	c.(2179-2181)GCC>ACC	p.A727T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.A617T	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	138030108	138030108	16408	2	G	A	A	46	46	THSD7B	A	2	2
LRP1B	53353	broad.mit.edu	37	2	142004811	142004811	+	Silent	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:142004811A>T	uc002tvj.1	-	5	1548	c.576T>A	c.(574-576)TCT>TCA	p.S192S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	192	Extracellular (Potential).|EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture+wgs		Silent	SNP	142004811	142004811	9328	2	A	T	T	3	3	LRP1B	T	4	4
MBD5	55777	broad.mit.edu	37	2	149240909	149240909	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149240909A>G	uc002twm.3	+	10	3737	c.2749A>G	c.(2749-2751)AGC>GGC	p.S917G	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.S917G|MBD5_uc002two.2_5'Flank|MBD5_uc002twp.2_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	917						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	149240909	149240909	9735	2	A	G	G	7	7	MBD5	G	4	4
XIRP2	129446	broad.mit.edu	37	2	168106268	168106268	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:168106268T>C	uc002udx.2	+	8	8384	c.8366T>C	c.(8365-8367)ATA>ACA	p.I2789T	XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.I2614T|XIRP2_uc010fpq.2_Missense_Mutation_p.I2567T|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.I135T	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2 isoform 1	2614					actin cytoskeleton organization	cell junction	actin binding			skin(7)|ovary(6)|pancreas(1)	14																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	168106268	168106268	18011	2	T	C	C	49	49	XIRP2	C	4	4
ITGA6	3655	broad.mit.edu	37	2	173356152	173356152	+	Splice_Site	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:173356152G>T	uc002uhp.1	+	23	3093	c.2890_splice	c.e23-1	p.E964_splice	ITGA6_uc010zdy.1_Splice_Site_p.E845_splice|ITGA6_uc002uho.1_Splice_Site_p.E964_splice|ITGA6_uc010fqm.1_Splice_Site_p.E595_splice	NM_001079818	NP_001073286			integrin alpha chain, alpha 6 isoform a						blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0979)															---	---	---	---	capture		Splice_Site	SNP	173356152	173356152	8184	2	G	T	T	35	35	ITGA6	T	5	2
TTN	7273	broad.mit.edu	37	2	179393645	179393645	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179393645T>C	uc010zfg.1	-	309	99353	c.99129A>G	c.(99127-99129)GCA>GCG	p.A33043A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A26738A|TTN_uc010zfi.1_Silent_p.A26671A|TTN_uc010zfj.1_Silent_p.A26546A|TTN_uc002umq.2_Silent_p.A60A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	33970							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture+wgs		Silent	SNP	179393645	179393645	17290	2	T	C	C	51	51	TTN	C	4	4
TTN	7273	broad.mit.edu	37	2	179571295	179571295	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179571295T>C	uc010zfg.1	-	99	25798	c.25574A>G	c.(25573-25575)TAC>TGC	p.Y8525C	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Y5186C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9452							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	179571295	179571295	17290	2	T	C	C	57	57	TTN	C	4	4
TRPM8	79054	broad.mit.edu	37	2	234854613	234854613	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234854613C>A	uc002vvh.2	+	7	853	c.813C>A	c.(811-813)CCC>CCA	p.P271P	TRPM8_uc010fyj.2_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel,	271	Cytoplasmic (Potential).					integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)													---	---	---	---	capture		Silent	SNP	234854613	234854613	17143	2	C	A	A	21	21	TRPM8	A	2	2
SNPH	9751	broad.mit.edu	37	20	1277858	1277858	+	Silent	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1277858T>A	uc002wes.2	+	4	356	c.120T>A	c.(118-120)TCT>TCA	p.S40S	SNPH_uc002wet.2_Silent_p.S84S	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	40	Poly-Ser.				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2																		---	---	---	---	capture+wgs		Silent	SNP	1277858	1277858	15350	20	T	A	A	55	55	SNPH	A	4	4
RBL1	5933	broad.mit.edu	37	20	35668651	35668651	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35668651C>G	uc002xgi.2	-	14	1887	c.1808G>C	c.(1807-1809)GGA>GCA	p.G603A	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.G603A	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	603	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	35668651	35668651	13570	20	C	G	G	30	30	RBL1	G	3	3
C20orf111	51526	broad.mit.edu	37	20	42825791	42825791	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42825791G>C	uc002xlk.2	-	4	917	c.780C>G	c.(778-780)TTC>TTG	p.F260L		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	260											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	42825791	42825791	2156	20	G	C	C	37	37	C20orf111	C	3	3
DOPEY2	9980	broad.mit.edu	37	21	37650530	37650530	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37650530G>T	uc002yvg.2	+	30	5925	c.5846G>T	c.(5845-5847)CGG>CTG	p.R1949L	DOPEY2_uc011aeb.1_Missense_Mutation_p.R1898L	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	1949					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	37650530	37650530	4892	21	G	T	T	39	39	DOPEY2	T	1	1
TTC3	7267	broad.mit.edu	37	21	38568325	38568325	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38568325C>G	uc002yvz.2	+	42	5672	c.5567C>G	c.(5566-5568)CCA>CGA	p.P1856R	TTC3_uc002ywa.2_Missense_Mutation_p.P1856R|TTC3_uc002ywb.2_Missense_Mutation_p.P1856R|TTC3_uc010gnf.2_Missense_Mutation_p.P1621R|TTC3_uc002ywc.2_Missense_Mutation_p.P1546R	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1856					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	38568325	38568325	17252	21	C	G	G	21	21	TTC3	G	3	3
KCNJ15	3772	broad.mit.edu	37	21	39672221	39672221	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:39672221T>C	uc002ywv.2	+	4	1340	c.1038T>C	c.(1036-1038)TCT>TCC	p.S346S	KCNJ15_uc002yww.2_Silent_p.S346S|KCNJ15_uc002ywx.2_Silent_p.S346S	NM_002243	NP_002234	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel J15	346	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6																		---	---	---	---	capture+wgs		Silent	SNP	39672221	39672221	8354	21	T	C	C	55	55	KCNJ15	C	4	4
RIPK4	54101	broad.mit.edu	37	21	43161080	43161080	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43161080C>A	uc002yzn.1	-	8	2321	c.2273G>T	c.(2272-2274)GGG>GTG	p.G758V		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	758						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	43161080	43161080	13860	21	C	A	A	22	22	RIPK4	A	2	2
PCNT	5116	broad.mit.edu	37	21	47746346	47746346	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47746346A>G	uc002zji.3	+	2	217	c.110A>G	c.(109-111)AAG>AGG	p.K37R	PCNT_uc002zjj.2_5'UTR|C21orf58_uc011afx.1_5'Flank|C21orf58_uc002zjf.2_5'Flank|C21orf58_uc010gqj.1_5'Flank|C21orf58_uc002zjg.1_5'Flank	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	37					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	47746346	47746346	12010	21	A	G	G	3	3	PCNT	G	4	4
CERK	64781	broad.mit.edu	37	22	47085971	47085971	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:47085971G>T	uc003bia.2	-	12	1566	c.1459C>A	c.(1459-1461)CAC>AAC	p.H487N	CERK_uc010hae.2_Missense_Mutation_p.H289N	NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	ceramide kinase	487					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			skin(1)	1		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	47085971	47085971	3400	22	G	T	T	47	47	CERK	T	2	2
SETD5	55209	broad.mit.edu	37	3	9489623	9489623	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9489623C>A	uc003brt.2	+	15	2471	c.2036C>A	c.(2035-2037)CCA>CAA	p.P679Q	SETD5_uc003brs.1_Missense_Mutation_p.P660Q|SETD5_uc003bru.2_Missense_Mutation_p.P581Q|SETD5_uc003brv.2_Missense_Mutation_p.P568Q|SETD5_uc010hck.2_Missense_Mutation_p.P161Q|SETD5_uc003brx.2_Missense_Mutation_p.P348Q	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	679										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)														---	---	---	---	capture		Missense_Mutation	SNP	9489623	9489623	14623	3	C	A	A	21	21	SETD5	A	2	2
ATG7	10533	broad.mit.edu	37	3	11400062	11400062	+	Silent	SNP	C	A	A	rs142674226		TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:11400062C>A	uc003bwc.2	+	13	1572	c.1455C>A	c.(1453-1455)GCC>GCA	p.A485A	ATG7_uc003bwd.2_Silent_p.A485A|ATG7_uc011aum.1_Silent_p.A446A	NM_006395	NP_006386	O95352	ATG7_HUMAN	APG7 autophagy 7-like isoform a	485					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	11400062	11400062	1120	3	C	A	A	23	23	ATG7	A	1	1
GALNTL2	117248	broad.mit.edu	37	3	16216843	16216843	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:16216843G>T	uc003car.3	+	1	660	c.185G>T	c.(184-186)GGG>GTG	p.G62V	GALNTL2_uc003caq.3_Intron	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	62	Lumenal (Potential).					Golgi membrane|integral to membrane|transport vesicle	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	16216843	16216843	6486	3	G	T	T	43	43	GALNTL2	T	2	2
GRM2	2912	broad.mit.edu	37	3	51747147	51747147	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51747147T>C	uc010hlv.2	+	3	1348	c.1109T>C	c.(1108-1110)GTG>GCG	p.V370A	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	370	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	51747147	51747147	7076	3	T	C	C	59	59	GRM2	C	4	4
FILIP1L	11259	broad.mit.edu	37	3	99567816	99567816	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99567816G>A	uc003dtm.2	-	5	3167	c.2704C>T	c.(2704-2706)CTT>TTT	p.L902F	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Missense_Mutation_p.L902F|FILIP1L_uc010hpf.2_Missense_Mutation_p.L478F|FILIP1L_uc010hpg.2_Missense_Mutation_p.L662F|FILIP1L_uc003dtn.2_Missense_Mutation_p.L662F|FILIP1L_uc003dtp.1_Missense_Mutation_p.L662F	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	902						cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	99567816	99567816	6133	3	G	A	A	36	36	FILIP1L	A	2	2
TFG	10342	broad.mit.edu	37	3	100447602	100447602	+	Silent	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100447602C>G	uc003due.2	+	4	764	c.315C>G	c.(313-315)CTC>CTG	p.L105L	TFG_uc003duf.2_Silent_p.L105L|TFG_uc003dug.2_Silent_p.L105L|TFG_uc003duh.2_Silent_p.L105L|TFG_uc003dui.2_Silent_p.L105L	NM_006070	NP_006061	Q92734	TFG_HUMAN	TRK-fused	105	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/ALK(7)	haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1)	11								T	NTRK1|ALK	papillary thyroid|ALCL|NSCLC								---	---	---	---	capture+wgs		Silent	SNP	100447602	100447602	16334	3	C	G	G	30	30	TFG	G	3	3
KIAA2018	205717	broad.mit.edu	37	3	113377278	113377278	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113377278G>A	uc003eam.2	-	7	3662	c.3251C>T	c.(3250-3252)GCC>GTC	p.A1084V	KIAA2018_uc003eal.2_Missense_Mutation_p.A1028V	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	hypothetical protein LOC205717	1084					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	113377278	113377278	8579	3	G	A	A	42	42	KIAA2018	A	2	2
UROC1	131669	broad.mit.edu	37	3	126202271	126202271	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126202271C>A	uc003eiz.1	-	19	1863	c.1831G>T	c.(1831-1833)GGT>TGT	p.G611C	UROC1_uc010hsi.1_Missense_Mutation_p.G671C	NM_144639	NP_653240	Q96N76	HUTU_HUMAN	urocanase domain containing 1 isoform 1	611					histidine catabolic process	cytosol	urocanate hydratase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.17)														---	---	---	---	capture		Missense_Mutation	SNP	126202271	126202271	17590	3	C	A	A	23	23	UROC1	A	1	1
CLSTN2	64084	broad.mit.edu	37	3	140281051	140281051	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:140281051G>T	uc003etn.2	+	13	2303	c.2113G>T	c.(2113-2115)GAC>TAC	p.D705Y		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	705	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7															HNSCC(16;0.037)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	140281051	140281051	3700	3	G	T	T	41	41	CLSTN2	T	2	2
SLC9A9	285195	broad.mit.edu	37	3	143412129	143412129	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143412129A>G	uc003evn.2	-	5	736	c.554T>C	c.(553-555)GTG>GCG	p.V185A	SLC9A9_uc011bnk.1_Missense_Mutation_p.V59A	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	solute carrier family 9 (sodium/hydrogen	185	Helical; (Potential).				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	143412129	143412129	15218	3	A	G	G	6	6	SLC9A9	G	4	4
DHX36	170506	broad.mit.edu	37	3	154017707	154017707	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154017707G>A	uc003ezy.3	-	12	1550	c.1469C>T	c.(1468-1470)GCG>GTG	p.A490V	DHX36_uc010hvq.2_Missense_Mutation_p.A490V|DHX36_uc003ezz.3_Missense_Mutation_p.A490V	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	490	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---	capture		Missense_Mutation	SNP	154017707	154017707	4688	3	G	A	A	38	38	DHX36	A	1	1
IFT80	57560	broad.mit.edu	37	3	159995188	159995188	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:159995188T>G	uc011boy.1	-	18	2438	c.2005A>C	c.(2005-2007)AGT>CGT	p.S669R	IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Missense_Mutation_p.S532R|IFT80_uc003fdd.1_Missense_Mutation_p.S352R|IFT80_uc003fde.1_Missense_Mutation_p.S532R	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	WD repeat domain 56	669						cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	159995188	159995188	7865	3	T	G	G	53	53	IFT80	G	4	4
MECOM	2122	broad.mit.edu	37	3	168810803	168810803	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168810803C>A	uc003ffi.3	-	13	2812	c.2543G>T	c.(2542-2544)CGA>CTA	p.R848L	MECOM_uc010hwk.1_Missense_Mutation_p.R862L|MECOM_uc003ffj.3_Missense_Mutation_p.R913L|MECOM_uc011bpi.1_Missense_Mutation_p.R840L|MECOM_uc003ffn.3_Missense_Mutation_p.R848L|MECOM_uc003ffk.2_Missense_Mutation_p.R839L|MECOM_uc003ffl.2_Missense_Mutation_p.R999L|MECOM_uc011bpj.1_Missense_Mutation_p.R1036L|MECOM_uc011bpk.1_Missense_Mutation_p.R838L	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	848					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	168810803	168810803	9811	3	C	A	A	31	31	MECOM	A	1	1
ZNF718	255403	broad.mit.edu	37	4	155336	155336	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155336A>T	uc003fzt.3	+	8	994	c.861A>T	c.(859-861)GAA>GAT	p.E287D	ZNF595_uc003fzu.1_Intron|ZNF718_uc010iaz.2_RNA|ZNF718_uc003fzw.3_Missense_Mutation_p.N67I	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	zinc finger protein 718	287	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	155336	155336	18717	4	A	T	T	4	4	ZNF718	T	4	4
SLIT2	9353	broad.mit.edu	37	4	20598038	20598038	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20598038T>C	uc003gpr.1	+	32	3525	c.3321T>C	c.(3319-3321)AGT>AGC	p.S1107S	SLIT2_uc003gps.1_Silent_p.S1099S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	1107	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---	capture+wgs		Silent	SNP	20598038	20598038	15238	4	T	C	C	59	59	SLIT2	C	4	4
PPARGC1A	10891	broad.mit.edu	37	4	23803870	23803870	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:23803870G>A	uc003gqs.2	-	11	2238	c.2118C>T	c.(2116-2118)TGC>TGT	p.C706C	PPARGC1A_uc003gqt.2_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	706	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)																---	---	---	---	capture+wgs		Silent	SNP	23803870	23803870	12730	4	G	A	A	46	46	PPARGC1A	A	2	2
ATP8A1	10396	broad.mit.edu	37	4	42445668	42445668	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42445668C>A	uc003gwr.2	-	33	3269	c.3037G>T	c.(3037-3039)GGG>TGG	p.G1013W	ATP8A1_uc003gwq.2_Missense_Mutation_p.G239W|ATP8A1_uc003gws.2_Missense_Mutation_p.G998W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1013	Helical; (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	42445668	42445668	1211	4	C	A	A	22	22	ATP8A1	A	2	2
GABRG1	2565	broad.mit.edu	37	4	46043218	46043218	+	Silent	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46043218A>T	uc003gxb.2	-	9	1337	c.1185T>A	c.(1183-1185)TCT>TCA	p.S395S		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid A receptor, gamma 1	395	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(2)	2				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)														---	---	---	---	capture+wgs		Silent	SNP	46043218	46043218	6422	4	A	T	T	7	7	GABRG1	T	4	4
PRKG2	5593	broad.mit.edu	37	4	82065465	82065465	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:82065465C>A	uc003hmh.2	-	9	1188	c.1174G>T	c.(1174-1176)GGT>TGT	p.G392C	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.G392C	NM_006259	NP_006250	Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	392	cGMP 2.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	82065465	82065465	12966	4	C	A	A	23	23	PRKG2	A	1	1
NPY1R	4886	broad.mit.edu	37	4	164247222	164247222	+	Missense_Mutation	SNP	A	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:164247222A>C	uc003iqm.1	-	2	751	c.485T>G	c.(484-486)ATT>AGT	p.I162S	NPY1R_uc011cjj.1_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	162	Helical; Name=4; (Potential).				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			lung(1)|pancreas(1)	2	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	164247222	164247222	11013	4	A	C	C	4	4	NPY1R	C	4	4
CLCN3	1182	broad.mit.edu	37	4	170610338	170610338	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170610338C>A	uc003isi.2	+	5	1072	c.563C>A	c.(562-564)CCA>CAA	p.P188Q	CLCN3_uc003ish.2_Missense_Mutation_p.P188Q|CLCN3_uc011cjz.1_Missense_Mutation_p.P171Q|CLCN3_uc011cka.1_Missense_Mutation_p.P188Q|CLCN3_uc003isj.1_Missense_Mutation_p.P161Q	NM_001829	NP_001820	P51790	CLCN3_HUMAN	chloride channel 3 isoform b	188					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(2)|ovary(1)	3		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)														---	---	---	---	capture		Missense_Mutation	SNP	170610338	170610338	3600	4	C	A	A	21	21	CLCN3	A	2	2
ODZ3	55714	broad.mit.edu	37	4	183664445	183664445	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183664445G>C	uc003ivd.1	+	18	3539	c.3502G>C	c.(3502-3504)GAT>CAT	p.D1168H	ODZ3_uc003ive.1_Missense_Mutation_p.D574H	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1168	Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	183664445	183664445	11241	4	G	C	C	45	45	ODZ3	C	3	3
FAT1	2195	broad.mit.edu	37	4	187541799	187541799	+	Nonsense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187541799G>A	uc003izf.2	-	10	6129	c.5941C>T	c.(5941-5943)CAG>TAG	p.Q1981*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1981	Extracellular (Potential).|Cadherin 18.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	187541799	187541799	5925	4	G	A	A	47	47	FAT1	A	5	2
C5orf38	153571	broad.mit.edu	37	5	2752747	2752747	+	Nonsense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:2752747C>G	uc003jdc.2	+	2	329	c.212C>G	c.(211-213)TCA>TGA	p.S71*	C5orf38_uc011cmg.1_Nonsense_Mutation_p.S71*|C5orf38_uc011cmh.1_Intron|C5orf38_uc011cmi.1_Intron|C5orf38_uc011cmj.1_Intron	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	hypothetical protein LOC153571 precursor	71						extracellular region					0				GBM - Glioblastoma multiforme(108;0.205)														---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	2752747	2752747	2394	5	C	G	G	29	29	C5orf38	G	5	3
C1QTNF3	114899	broad.mit.edu	37	5	34024067	34024067	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34024067C>A	uc003jin.2	-	5	615	c.528G>T	c.(526-528)GAG>GAT	p.E176D	C1QTNF3_uc003jim.2_Missense_Mutation_p.E56D|C1QTNF3_uc003jio.2_Missense_Mutation_p.E249D	NM_030945	NP_112207	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	176	C1q.					collagen					0	all_lung(31;0.0207)																	---	---	---	---	capture		Missense_Mutation	SNP	34024067	34024067	2031	5	C	A	A	24	24	C1QTNF3	A	2	2
HEATR7B2	133558	broad.mit.edu	37	5	40998213	40998213	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40998213C>A	uc003jmj.3	-	42	5189	c.4699G>T	c.(4699-4701)GCT>TCT	p.A1567S	HEATR7B2_uc003jmi.3_Missense_Mutation_p.A1122S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1567							binding			ovary(6)|central_nervous_system(2)	8																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	40998213	40998213	7318	5	C	A	A	28	28	HEATR7B2	A	2	2
DIMT1L	27292	broad.mit.edu	37	5	61688006	61688006	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:61688006G>T	uc003jta.2	-	10	913	c.784C>A	c.(784-786)CAT>AAT	p.H262N		NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	dimethyladenosine transferase	262						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			central_nervous_system(1)	1		Lung NSC(810;8.94e-06)|Prostate(74;0.0235)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.122)														---	---	---	---	capture		Missense_Mutation	SNP	61688006	61688006	4702	5	G	T	T	47	47	DIMT1L	T	2	2
UTP15	84135	broad.mit.edu	37	5	72864310	72864310	+	Silent	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72864310A>G	uc003kcw.1	+	4	472	c.249A>G	c.(247-249)GCA>GCG	p.A83A	UTP15_uc011cso.1_Silent_p.A64A|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Silent_p.A83A|ANKRA2_uc003kcu.1_5'Flank|ANKRA2_uc003kcv.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein,	83	WD 2.				rRNA processing	cytoplasm|nucleolus					0		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)														---	---	---	---	capture+wgs		Silent	SNP	72864310	72864310	17662	5	A	G	G	8	8	UTP15	G	4	4
ANKRD34B	340120	broad.mit.edu	37	5	79854626	79854626	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79854626A>G	uc010jam.2	-	4	1563	c.1213T>C	c.(1213-1215)TCA>CCA	p.S405P	ANKRD34B_uc003kgw.2_Missense_Mutation_p.S405P|ANKRD34B_uc010jan.2_Missense_Mutation_p.S405P	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	405						cytoplasm|nucleus				pancreas(1)	1		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	79854626	79854626	670	5	A	G	G	10	10	ANKRD34B	G	4	4
MSH3	4437	broad.mit.edu	37	5	79968171	79968171	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79968171G>T	uc003kgz.2	+	5	1154	c.901G>T	c.(901-903)GGA>TGA	p.G301*		NM_002439	NP_002430	P20585	MSH3_HUMAN	mutS homolog 3	301					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			lung(2)|ovary(1)|breast(1)	4		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)									MMR					---	---	---	---	capture		Nonsense_Mutation	SNP	79968171	79968171	10264	5	G	T	T	35	35	MSH3	T	5	2
APC	324	broad.mit.edu	37	5	112174187	112174187	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112174187A>G	uc010jby.2	+	16	3276	c.2896A>G	c.(2896-2898)AGT>GGT	p.S966G	APC_uc011cvt.1_Missense_Mutation_p.S948G|APC_uc003kpz.3_Missense_Mutation_p.S966G|APC_uc003kpy.3_Missense_Mutation_p.S966G|APC_uc010jbz.2_Missense_Mutation_p.S683G|APC_uc010jca.2_Missense_Mutation_p.S266G	NM_001127511	NP_001120983	P25054	APC_HUMAN	adenomatous polyposis coli	966	Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.				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)|p.S966R(1)		large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515		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)			12	D|Mis|N|F|S		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS			Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	TSP Lung(16;0.13)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	112174187	112174187	773	5	A	G	G	15	15	APC	G	4	4
KCNN2	3781	broad.mit.edu	37	5	113831666	113831666	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:113831666C>A	uc003kqo.2	+	8	1984	c.1527C>A	c.(1525-1527)ACC>ACA	p.T509T	KCNN2_uc003kqp.2_Silent_p.T161T|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	509						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)														---	---	---	---	capture+wgs		Silent	SNP	113831666	113831666	8384	5	C	A	A	22	22	KCNN2	A	2	2
SLC27A6	28965	broad.mit.edu	37	5	128320972	128320972	+	Missense_Mutation	SNP	C	G	G	rs142869983	byFrequency	TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:128320972C>G	uc003kuy.2	+	3	1024	c.628C>G	c.(628-630)CAT>GAT	p.H210D	SLC27A6_uc003kuz.2_Missense_Mutation_p.H210D	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	210					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	128320972	128320972	15027	5	C	G	G	21	21	SLC27A6	G	3	3
ACSL6	23305	broad.mit.edu	37	5	131296315	131296315	+	Splice_Site	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131296315C>T	uc010jdo.1	-	19	1866	c.1783_splice	c.e19-1	p.A595_splice	ACSL6_uc003kvv.1_Splice_Site|ACSL6_uc003kvx.1_Splice_Site_p.A620_splice|ACSL6_uc003kvy.1_Splice_Site_p.A620_splice|ACSL6_uc003kwb.2_Splice_Site_p.A585_splice|ACSL6_uc003kvz.1_Splice_Site_p.A520_splice|ACSL6_uc003kwa.1_Splice_Site_p.A606_splice|ACSL6_uc003kvw.1_Splice_Site_p.A241_splice|ACSL6_uc010jdn.1_Splice_Site_p.A610_splice	NM_015256	NP_056071			acyl-CoA synthetase long-chain family member 6						fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---	capture+wgs		Splice_Site	SNP	131296315	131296315	182	5	C	T	T	24	24	ACSL6	T	5	2
ANKRD43	134548	broad.mit.edu	37	5	132150753	132150753	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132150753G>T	uc003kxw.2	+	1	1721	c.1440G>T	c.(1438-1440)CTG>CTT	p.L480L		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	ankyrin repeat domain 43 precursor	480											0		all_cancers(142;0.086)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---	capture		Silent	SNP	132150753	132150753	679	5	G	T	T	47	47	ANKRD43	T	2	2
PCDHB5	26167	broad.mit.edu	37	5	140517005	140517005	+	Silent	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140517005C>T	uc003liq.2	+	1	2206	c.1989C>T	c.(1987-1989)GAC>GAT	p.D663D		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	663	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Silent	SNP	140517005	140517005	11965	5	C	T	T	19	19	PCDHB5	T	1	1
THG1L	54974	broad.mit.edu	37	5	157159978	157159978	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:157159978G>A	uc003lxd.2	+	2	420	c.294G>A	c.(292-294)GTG>GTA	p.V98V	THG1L_uc011ddu.1_5'UTR	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	interphase cytoplasmic foci protein 45	98					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture+wgs		Silent	SNP	157159978	157159978	16389	5	G	A	A	45	45	THG1L	A	2	2
EBF1	1879	broad.mit.edu	37	5	158522656	158522656	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158522656A>G	uc010jip.2	-	4	685	c.383T>C	c.(382-384)GTG>GCG	p.V128A	EBF1_uc011ddw.1_5'UTR|EBF1_uc011ddx.1_Missense_Mutation_p.V128A|EBF1_uc003lxl.3_Missense_Mutation_p.V128A	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	128					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)					T	HMGA2	lipoma								---	---	---	---	capture+wgs		Missense_Mutation	SNP	158522656	158522656	5066	5	A	G	G	6	6	EBF1	G	4	4
CDHR2	54825	broad.mit.edu	37	5	176011260	176011260	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176011260G>T	uc003mem.1	+	18	2194	c.2128G>T	c.(2128-2130)GGA>TGA	p.G710*	CDHR2_uc003men.1_Nonsense_Mutation_p.G710*	NM_017675	NP_060145	Q9BYE9	CDHR2_HUMAN	protocadherin LKC precursor	710	Cadherin 7.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	176011260	176011260	3248	5	G	T	T	35	35	CDHR2	T	5	2
CANX	821	broad.mit.edu	37	5	179155595	179155595	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179155595G>T	uc003mkk.2	+	15	1906	c.1729G>T	c.(1729-1731)GAT>TAT	p.D577Y	CANX_uc011dgp.1_Missense_Mutation_p.D612Y|CANX_uc003mkl.2_Missense_Mutation_p.D577Y|CANX_uc011dgq.1_Missense_Mutation_p.D469Y	NM_001746	NP_001737	P27824	CALX_HUMAN	calnexin precursor	577	Cytoplasmic (Potential).				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding				0	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	179155595	179155595	2735	5	G	T	T	41	41	CANX	T	2	2
TRIM15	89870	broad.mit.edu	37	6	30131465	30131465	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30131465C>T	uc010jrx.2	+	1	483	c.4C>T	c.(4-6)CCC>TCC	p.P2S	TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	2					mesodermal cell fate determination	intracellular	zinc ion binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	30131465	30131465	17034	6	C	T	T	26	26	TRIM15	T	2	2
TNXB	7148	broad.mit.edu	37	6	32046816	32046816	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32046816C>T	uc003nzl.2	-	11	4571	c.4369G>A	c.(4369-4371)GTG>ATG	p.V1457M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1544					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	32046816	32046816	16887	6	C	T	T	19	19	TNXB	T	1	1
CNPY3	10695	broad.mit.edu	37	6	42903311	42903311	+	Splice_Site	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42903311G>T	uc003ota.3	+	3	725	c.276_splice	c.e3-1	p.S92_splice	CNPY3_uc003osy.2_Splice_Site|CNPY3_uc003osz.2_Splice_Site_p.S92_splice|CNPY3_uc003otc.3_Splice_Site|CNPY3_uc003otb.3_Splice_Site_p.R3_splice	NM_006586	NP_006577			trinucleotide repeat containing 5 precursor						innate immune response	endoplasmic reticulum				ovary(1)	1	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)															---	---	---	---	capture		Splice_Site	SNP	42903311	42903311	3767	6	G	T	T	35	35	CNPY3	T	5	2
IMPG1	3617	broad.mit.edu	37	6	76744468	76744468	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76744468A>G	uc003pik.1	-	3	468	c.338T>C	c.(337-339)TTT>TCT	p.F113S		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	113					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	76744468	76744468	8029	6	A	G	G	1	1	IMPG1	G	4	4
MDN1	23195	broad.mit.edu	37	6	90428865	90428865	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90428865T>A	uc003pnn.1	-	41	6163	c.6047A>T	c.(6046-6048)TAT>TTT	p.Y2016F		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	2016					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	90428865	90428865	9804	6	T	A	A	49	49	MDN1	A	4	4
ASCC3	10973	broad.mit.edu	37	6	101086540	101086540	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101086540C>A	uc003pqk.2	-	25	4388	c.4059G>T	c.(4057-4059)TCG>TCT	p.S1353S		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1353	ATP (Potential).|Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)														---	---	---	---	capture		Silent	SNP	101086540	101086540	1051	6	C	A	A	23	23	ASCC3	A	1	1
AIM1	202	broad.mit.edu	37	6	106967119	106967119	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:106967119C>A	uc003prh.2	+	2	1299	c.812C>A	c.(811-813)ACC>AAC	p.T271N		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	271							sugar binding			breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	106967119	106967119	433	6	C	A	A	18	18	AIM1	A	2	2
ICA1	3382	broad.mit.edu	37	7	8198264	8198264	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8198264G>T	uc003srm.2	-	7	665	c.598C>A	c.(598-600)CTT>ATT	p.L200I	ICA1_uc010ktr.2_Missense_Mutation_p.L200I|ICA1_uc003srl.2_Missense_Mutation_p.L188I|ICA1_uc003srn.3_Missense_Mutation_p.L126I|ICA1_uc003srp.3_Missense_Mutation_p.L199I|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.L200I|ICA1_uc003srr.2_Missense_Mutation_p.L199I|ICA1_uc003sro.3_Missense_Mutation_p.L200I|ICA1_uc011jxg.1_Missense_Mutation_p.L200I|ICA1_uc003srs.1_Missense_Mutation_p.L200I	NM_022307	NP_071682	Q05084	ICA69_HUMAN	islet cell autoantigen 1	200	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				central_nervous_system(1)	1		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	8198264	8198264	7777	7	G	T	T	35	35	ICA1	T	2	2
HDAC9	9734	broad.mit.edu	37	7	18767237	18767237	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18767237C>T	uc003suh.2	+	12	1798	c.1757C>T	c.(1756-1758)TCT>TTT	p.S586F	HDAC9_uc003sue.2_Missense_Mutation_p.S586F|HDAC9_uc011jyd.1_Missense_Mutation_p.S586F|HDAC9_uc003sui.2_Missense_Mutation_p.S589F|HDAC9_uc003suj.2_Missense_Mutation_p.S545F|HDAC9_uc003sua.1_Missense_Mutation_p.S564F|HDAC9_uc010kue.1_Missense_Mutation_p.S241F	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	586					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	18767237	18767237	7297	7	C	T	T	32	32	HDAC9	T	2	2
DNAH11	8701	broad.mit.edu	37	7	21912964	21912964	+	Silent	SNP	A	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21912964A>C	uc003svc.2	+	75	12092	c.12061A>C	c.(12061-12063)AGA>CGA	p.R4021R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4021	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---	capture+wgs		Silent	SNP	21912964	21912964	4781	7	A	C	C	7	7	DNAH11	C	4	4
INHBA	3624	broad.mit.edu	37	7	41739630	41739630	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:41739630C>G	uc003thq.2	-	1	578	c.343G>C	c.(343-345)GAA>CAA	p.E115Q	LOC285954_uc003tht.3_Intron|INHBA_uc003thr.2_Missense_Mutation_p.E115Q|LOC285954_uc003ths.2_Intron	NM_002192	NP_002183	P08476	INHBA_HUMAN	inhibin beta A precursor	115					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			lung(5)|ovary(1)	6															TSP Lung(11;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	41739630	41739630	8042	7	C	G	G	29	29	INHBA	G	3	3
ABCA13	154664	broad.mit.edu	37	7	48312439	48312439	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48312439A>G	uc003toq.2	+	17	3201	c.3176A>G	c.(3175-3177)CAC>CGC	p.H1059R	ABCA13_uc010kyr.2_Missense_Mutation_p.H562R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1059					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	48312439	48312439	32	7	A	G	G	6	6	ABCA13	G	4	4
SEMA3D	223117	broad.mit.edu	37	7	84702397	84702397	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84702397T>A	uc003uic.2	-	4	416	c.376A>T	c.(376-378)ACA>TCA	p.T126S	SEMA3D_uc010led.2_Missense_Mutation_p.T126S|SEMA3D_uc010lee.1_Missense_Mutation_p.T126S	NM_152754	NP_689967	O95025	SEM3D_HUMAN	semaphorin 3D precursor	126	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	84702397	84702397	14513	7	T	A	A	58	58	SEMA3D	A	4	4
SGCE	8910	broad.mit.edu	37	7	94229036	94229036	+	Splice_Site	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94229036C>A	uc003unl.2	-	8	1149	c.1038_splice	c.e8-1	p.V346_splice	SGCE_uc003unk.2_Intron|SGCE_uc003unm.2_Splice_Site_p.V346_splice|SGCE_uc003unn.2_Intron|SGCE_uc011kic.1_Splice_Site_p.V305_splice|SGCE_uc011kid.1_Splice_Site_p.V382_splice	NM_003919	NP_003910			sarcoglycan, epsilon isoform 2						cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			ovary(1)	1	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)															---	---	---	---	capture		Splice_Site	SNP	94229036	94229036	14693	7	C	A	A	24	24	SGCE	A	5	2
HBP1	26959	broad.mit.edu	37	7	106830702	106830702	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106830702C>T	uc003vdy.2	+	8	1193	c.1007C>T	c.(1006-1008)CCT>CTT	p.P336L	HBP1_uc011klv.1_Missense_Mutation_p.P346L|HBP1_uc003vdz.2_Missense_Mutation_p.P336L|HBP1_uc003vea.2_Missense_Mutation_p.P336L|HBP1_uc003veb.1_Missense_Mutation_p.P336L	NM_012257	NP_036389	O60381	HBP1_HUMAN	HMG-box transcription factor 1	336	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			skin(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	106830702	106830702	7267	7	C	T	T	24	24	HBP1	T	2	2
CBLL1	79872	broad.mit.edu	37	7	107399420	107399420	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107399420A>G	uc003veq.2	+	6	1603	c.1273A>G	c.(1273-1275)AAT>GAT	p.N425D	CBLL1_uc011kme.1_Missense_Mutation_p.N304D|CBLL1_uc011kmf.1_Missense_Mutation_p.N424D	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Cas-Br-M (murine) ecotropic retroviral	425	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	107399420	107399420	2822	7	A	G	G	13	13	CBLL1	G	4	4
LAMB4	22798	broad.mit.edu	37	7	107756483	107756483	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107756483C>G	uc010ljo.1	-	3	242	c.158G>C	c.(157-159)AGA>ACA	p.R53T	LAMB4_uc003vey.2_Missense_Mutation_p.R53T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	53	Laminin N-terminal.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	107756483	107756483	8936	7	C	G	G	32	32	LAMB4	G	3	3
PRSS37	136242	broad.mit.edu	37	7	141536910	141536910	+	Splice_Site	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141536910A>T	uc003vws.1	-	4	939	c.567_splice	c.e4+1	p.G189_splice	PRSS37_uc011krk.1_Splice_Site_p.G176_splice|PRSS37_uc011krl.1_Splice_Site_p.G188_splice|PRSS37_uc003vwt.1_Splice_Site_p.G176_splice	NM_001008270	NP_001008271			protease, serine, 37 precursor						proteolysis	extracellular region	serine-type endopeptidase activity			skin(1)	1																		---	---	---	---	capture+wgs		Splice_Site	SNP	141536910	141536910	13076	7	A	T	T	14	14	PRSS37	T	5	4
OR2A14	135941	broad.mit.edu	37	7	143826669	143826669	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143826669C>A	uc011kua.1	+	1	464	c.464C>A	c.(463-465)GCT>GAT	p.A155D		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A,	155	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Melanoma(164;0.0783)																	---	---	---	---	capture		Missense_Mutation	SNP	143826669	143826669	11382	7	C	A	A	28	28	OR2A14	A	2	2
RP1L1	94137	broad.mit.edu	37	8	10466095	10466095	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466095G>T	uc003wtc.2	-	4	5742	c.5513C>A	c.(5512-5514)CCG>CAG	p.P1838Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1838					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---	capture		Missense_Mutation	SNP	10466095	10466095	14012	8	G	T	T	39	39	RP1L1	T	1	1
PTK2B	2185	broad.mit.edu	37	8	27315846	27315846	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27315846G>T	uc003xfn.1	+	36	3658	c.2850G>T	c.(2848-2850)CTG>CTT	p.L950L	PTK2B_uc003xfo.1_Silent_p.L950L|PTK2B_uc003xfp.1_Silent_p.L950L|PTK2B_uc003xfq.1_Silent_p.L908L	NM_173174	NP_775266	Q14289	FAK2_HUMAN	PTK2B protein tyrosine kinase 2 beta isoform a	950	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			lung(3)|ovary(1)|skin(1)	5		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)														---	---	---	---	capture+wgs		Silent	SNP	27315846	27315846	13218	8	G	T	T	47	47	PTK2B	T	2	2
ANK1	286	broad.mit.edu	37	8	41530129	41530129	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:41530129G>T	uc003xok.2	-	38	4923	c.4839C>A	c.(4837-4839)CCC>CCA	p.P1613P	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Intron|ANK1_uc003xoi.2_Silent_p.P1613P|ANK1_uc003xoj.2_Silent_p.P1613P|ANK1_uc003xol.2_Intron|ANK1_uc003xom.2_Silent_p.P1654P	NM_020476	NP_065209	P16157	ANK1_HUMAN	ankyrin 1 isoform 1	1613	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)															---	---	---	---	capture		Silent	SNP	41530129	41530129	623	8	G	T	T	39	39	ANK1	T	1	1
SDC2	6383	broad.mit.edu	37	8	97620681	97620681	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97620681G>T	uc003yhv.1	+	4	1043	c.425G>T	c.(424-426)CGG>CTG	p.R142L	SDC2_uc011lgu.1_Missense_Mutation_p.R113L	NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	142	Extracellular (Potential).	Cleavage of ectodomain (Potential).				integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	97620681	97620681	14437	8	G	T	T	39	39	SDC2	T	1	1
CSMD3	114788	broad.mit.edu	37	8	113418786	113418786	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113418786C>A	uc003ynu.2	-	35	5935	c.5776G>T	c.(5776-5778)GCC>TCC	p.A1926S	CSMD3_uc003yns.2_Missense_Mutation_p.A1128S|CSMD3_uc003ynt.2_Missense_Mutation_p.A1886S|CSMD3_uc011lhx.1_Missense_Mutation_p.A1822S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1926	Sushi 10.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture		Missense_Mutation	SNP	113418786	113418786	4087	8	C	A	A	26	26	CSMD3	A	2	2
ATAD2	29028	broad.mit.edu	37	8	124340506	124340506	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124340506C>G	uc003yqh.3	-	25	3900	c.3792G>C	c.(3790-3792)TTG>TTC	p.L1264F	ATAD2_uc011lii.1_Missense_Mutation_p.L1055F|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	124340506	124340506	1090	8	C	G	G	29	29	ATAD2	G	3	3
FREM1	158326	broad.mit.edu	37	9	14823222	14823222	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14823222C>T	uc003zlm.2	-	13	2863	c.2273G>A	c.(2272-2274)GGC>GAC	p.G758D	FREM1_uc010mic.2_RNA	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1 precursor	758	CSPG 4.				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(50;3.53e-06)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	14823222	14823222	6291	9	C	T	T	26	26	FREM1	T	2	2
C9orf79	286234	broad.mit.edu	37	9	90500689	90500689	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90500689G>A	uc004app.3	+	4	1322	c.1287G>A	c.(1285-1287)GGG>GGA	p.G429G	C9orf79_uc004apo.1_Silent_p.G241G	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	429						integral to membrane				ovary(3)	3																		---	---	---	---	capture+wgs		Silent	SNP	90500689	90500689	2613	9	G	A	A	41	41	C9orf79	A	2	2
SCAI	286205	broad.mit.edu	37	9	127818230	127818230	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127818230G>T	uc004bpe.2	-	3	236	c.155C>A	c.(154-156)CCA>CAA	p.P52Q	SCAI_uc004bpd.2_Missense_Mutation_p.P75Q|SCAI_uc010mwu.2_RNA	NM_001144877	NP_001138349	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion isoform 2	52	Necessary to inhibit MKL1-induced SRF transcriptional activity (By similarity).				negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			ovary(2)|breast(2)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	127818230	127818230	14350	9	G	T	T	47	47	SCAI	T	2	2
FAM125B	89853	broad.mit.edu	37	9	129184187	129184187	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129184187G>A	uc004bqh.1	+	7	798	c.717G>A	c.(715-717)ACG>ACA	p.T239T	FAM125B_uc011lzy.1_Silent_p.T224T|FAM125B_uc010mxd.2_Silent_p.T232T	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	hypothetical protein LOC89853 isoform 1	239					protein transport	late endosome membrane					0																		---	---	---	---	capture+wgs		Silent	SNP	129184187	129184187	5625	9	G	A	A	39	39	FAM125B	A	1	1
GARNL3	84253	broad.mit.edu	37	9	130145740	130145740	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130145740T>C	uc011mae.1	+	23	2586	c.2185T>C	c.(2185-2187)TGC>CGC	p.C729R	GARNL3_uc011mad.1_Missense_Mutation_p.C707R|GARNL3_uc010mxi.2_5'UTR	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	729	CNH.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	130145740	130145740	6505	9	T	C	C	63	63	GARNL3	C	4	4
RXRA	6256	broad.mit.edu	37	9	137300876	137300876	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137300876A>T	uc004cfb.2	+	4	683	c.521A>T	c.(520-522)AAC>ATC	p.N174I	RXRA_uc004cfc.1_Missense_Mutation_p.N77I	NM_002957	NP_002948	P19793	RXRA_HUMAN	retinoid X receptor, alpha	174	NR C4-type.|Nuclear receptor.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	137300876	137300876	14243	9	A	T	T	2	2	RXRA	T	4	4
LCN6	158062	broad.mit.edu	37	9	139641878	139641878	+	Missense_Mutation	SNP	G	T	T	rs150825099	byFrequency	TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139641878G>T	uc004ciy.2	-	2	273	c.228C>A	c.(226-228)CAC>CAA	p.H76Q	LCN10_uc004ciw.2_RNA|uc004ciz.1_RNA	NM_198946	NP_945184	P62502	LCN6_HUMAN	lipocalin 6 precursor	76					single fertilization	extracellular region	binding				0	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)														---	---	---	---	capture		Missense_Mutation	SNP	139641878	139641878	9009	9	G	T	T	40	40	LCN6	T	1	1
WWC3	55841	broad.mit.edu	37	X	10096089	10096089	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10096089A>T	uc004csx.3	+	16	2366	c.2168A>T	c.(2167-2169)CAT>CTT	p.H723L	WWC3_uc010nds.2_Missense_Mutation_p.H387L|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	723										ovary(4)	4																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	10096089	10096089	17987	23	A	T	T	8	8	WWC3	T	4	4
FAM47C	442444	broad.mit.edu	37	X	37026510	37026510	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37026510G>T	uc004ddl.1	+	1	41	c.27G>T	c.(25-27)CGG>CGT	p.R9R		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	9										ovary(3)	3																		---	---	---	---	capture+wgs		Silent	SNP	37026510	37026510	5792	23	G	T	T	42	42	FAM47C	T	2	2
SYN1	6853	broad.mit.edu	37	X	47464427	47464427	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47464427C>T	uc004die.2	-	5	853	c.724G>A	c.(724-726)GAA>AAA	p.E242K	SYN1_uc004did.2_Missense_Mutation_p.E242K	NM_006950	NP_008881	P17600	SYN1_HUMAN	synapsin I isoform Ia	242	C; actin-binding and synaptic-vesicle binding.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	47464427	47464427	15961	23	C	T	T	32	32	SYN1	T	2	2
ZC4H2	55906	broad.mit.edu	37	X	64137714	64137714	+	Silent	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64137714G>T	uc004dvu.2	-	5	712	c.624C>A	c.(622-624)GCC>GCA	p.A208A	ZC4H2_uc004dvv.2_Silent_p.A185A|ZC4H2_uc011mov.1_Silent_p.A185A|ZC4H2_uc011mow.1_Missense_Mutation_p.P154Q|ZC4H2_uc004dvw.1_3'UTR	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	208							metal ion binding|protein binding			ovary(1)	1																		---	---	---	---	capture+wgs		Silent	SNP	64137714	64137714	18166	23	G	T	T	47	47	ZC4H2	T	2	2
APOOL	139322	broad.mit.edu	37	X	84310882	84310882	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84310882G>T	uc004eem.2	+	5	359	c.345G>T	c.(343-345)ATG>ATT	p.M115I	APOOL_uc010nmp.2_Intron	NM_198450	NP_940852	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like precursor	115						extracellular region					0																		---	---	---	---	capture		Missense_Mutation	SNP	84310882	84310882	825	23	G	T	T	47	47	APOOL	T	2	2
SATL1	340562	broad.mit.edu	37	X	84362449	84362449	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84362449G>C	uc011mqx.1	-	1	1526	c.1526C>G	c.(1525-1527)CCA>CGA	p.P509R	SATL1_uc004een.2_Missense_Mutation_p.P509R	NM_001163541	NP_001157013	Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	322	Gln-rich.						N-acetyltransferase activity			breast(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	84362449	84362449	14336	23	G	C	C	47	47	SATL1	C	3	3
TEX13A	56157	broad.mit.edu	37	X	104464730	104464730	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:104464730G>T	uc004ema.2	-	2	464	c.352C>A	c.(352-354)CAG>AAG	p.Q118K	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.Q118K	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	testis expressed sequence 13A	118						intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	104464730	104464730	16303	23	G	T	T	46	46	TEX13A	T	2	2
CXorf61	203413	broad.mit.edu	37	X	115593951	115593951	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115593951G>A	uc004eqj.1	-	1	187	c.67C>T	c.(67-69)CGC>TGC	p.R23C		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	23	Extracellular (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	115593951	115593951	4280	23	G	A	A	39	39	CXorf61	A	1	1
OCRL	4952	broad.mit.edu	37	X	128723821	128723821	+	Splice_Site	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128723821G>T	uc004euq.2	+	23	2635	c.2470_splice	c.e23-1	p.V824_splice	OCRL_uc004eur.2_Splice_Site_p.V816_splice|OCRL_uc010nrb.2_Intron	NM_000276	NP_000267			phosphatidylinositol polyphosphate 5-phosphatase						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4																		---	---	---	---	capture+wgs		Splice_Site	SNP	128723821	128723821	11228	23	G	T	T	35	35	OCRL	T	5	2
ZNF449	203523	broad.mit.edu	37	X	134494173	134494173	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134494173G>T	uc004eys.2	+	5	894	c.729G>T	c.(727-729)GAG>GAT	p.E243D	ZNF449_uc004eyt.2_Missense_Mutation_p.E123D|ZNF449_uc004eyu.2_Missense_Mutation_p.E49D	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	243					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	134494173	134494173	18513	23	G	T	T	33	33	ZNF449	T	2	2
MCF2	4168	broad.mit.edu	37	X	138699860	138699860	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138699860G>T	uc004fau.2	-	8	1105	c.811C>A	c.(811-813)CTA>ATA	p.L271I	MCF2_uc004fav.2_Missense_Mutation_p.L271I|MCF2_uc011mwl.1_Missense_Mutation_p.L232I|MCF2_uc010nsh.1_Missense_Mutation_p.L271I|MCF2_uc011mwm.1_Missense_Mutation_p.L232I|MCF2_uc011mwn.1_Missense_Mutation_p.L416I|MCF2_uc004faw.2_Missense_Mutation_p.L331I|MCF2_uc011mwo.1_Missense_Mutation_p.L331I	NM_005369	NP_005360	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	271	Spectrin.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			lung(1)|pleura(1)	2	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	138699860	138699860	9767	23	G	T	T	34	34	MCF2	T	2	2
SLITRK4	139065	broad.mit.edu	37	X	142718645	142718645	+	Nonsense_Mutation	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142718645T>A	uc004fbx.2	-	2	656	c.280A>T	c.(280-282)AAA>TAA	p.K94*	SLITRK4_uc004fby.2_Nonsense_Mutation_p.K94*	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	slit and trk like 4 protein precursor	94	Extracellular (Potential).|LRR 2.					integral to membrane				upper_aerodigestive_tract(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	142718645	142718645	15243	23	T	A	A	61	61	SLITRK4	A	5	4
CNGA2	1260	broad.mit.edu	37	X	150911817	150911817	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150911817A>G	uc004fey.1	+	7	1066	c.842A>G	c.(841-843)TAC>TGC	p.Y281C		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	281	Helical; Name=H4; (Potential).				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	150911817	150911817	3735	23	A	G	G	14	14	CNGA2	G	4	4
F8	2157	broad.mit.edu	37	X	154157962	154157962	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154157962G>T	uc004fmt.2	-	14	4274	c.4103C>A	c.(4102-4104)CCG>CAG	p.P1368Q		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1368	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---	capture		Missense_Mutation	SNP	154157962	154157962	5544	23	G	T	T	39	39	F8	T	1	1
IL9R	3581	broad.mit.edu	37	X	155235767	155235767	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3394-01	TCGA-43-3394-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:155235767G>C	uc004fnv.1	+	7	980	c.801G>C	c.(799-801)TGG>TGC	p.W267C	IL9R_uc010nvn.2_Missense_Mutation_p.W246C|IL9R_uc004fnu.1_Missense_Mutation_p.W302C	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	267	Extracellular (Potential).				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	155235767	155235767	8009	23	G	C	C	43	43	IL9R	C	3	3
FAM21C	253725	broad.mit.edu	37	10	46265032	46265032	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46265032A>G	uc001jcu.2	+			c.2005A>G	c.(2005-2007)AAA>GAA	p.K669E	FAM21C_uc001jcs.1_Missense_Mutation_p.K612E|FAM21C_uc001jct.2_Missense_Mutation_p.K667E|FAM21C_uc010qfi.1_Missense_Mutation_p.K645E|FAM21C_uc010qfj.1_5'UTR|FAM21C_uc010qfk.1_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	hypothetical protein LOC253725	669										ovary(1)	1																		---	---	---	---	wgs		Missense_Mutation	SNP	46265032	46265032	5757	10	A	G	G	5	5	FAM21C	G	4	4
ZNF365	22891	broad.mit.edu	37	10	64416212	64416212	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64416212G>T	uc001jmc.2	+			c.1186G>T	c.(1186-1188)GAG>TAG	p.E396*	ZNF365_uc001jmd.1_Nonsense_Mutation_p.E150*|ZNF365_uc001jme.1_Non-coding_Transcript|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Non-coding_Transcript	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform C	150										ovary(1)	1	Prostate(12;0.0297)|all_hematologic(501;0.228)																	---	---	---	---	wgs		Nonsense_Mutation	SNP	64416212	64416212	18461	10	G	T	T	45	45	ZNF365	T	5	2
SAA2	6289	broad.mit.edu	37	11	18267478	18267478	+	Missense_Mutation	SNP	G	A	A	rs79620496		TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18267478G>A	uc001mnz.3	-			c.209C>T	c.(208-210)GCC>GTC	p.A70V	SAA2_uc009yhj.2_Missense_Mutation_p.A70V	NM_030754	NP_110381	P02735	SAA_HUMAN	serum amyloid A2 isoform a	70			V -> A (in 2-alpha, 2-beta, 1-beta and 1- gamma).		acute-phase response|elevation of cytosolic calcium ion concentration|innate immune response|lymphocyte chemotaxis|macrophage chemotaxis|negative regulation of inflammatory response|neutrophil chemotaxis|platelet activation|positive regulation of cell adhesion|positive regulation of interleukin-1 secretion	high-density lipoprotein particle	G-protein-coupled receptor binding				0					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)													---	---	---	---	wgs		Missense_Mutation	SNP	18267478	18267478	14279	11	G	A	A	42	42	SAA2	A	2	2
ODZ4	26011	broad.mit.edu	37	11	78525385	78525385	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78525385C>A	uc001ozl.3	-			c.1737G>T	c.(1735-1737)GGG>GGT	p.G579G		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	579	Extracellular (Potential).|EGF-like 1.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---	wgs		Silent	SNP	78525385	78525385	11242	11	C	A	A	30	30	ODZ4	A	2	2
PRB2	653247	broad.mit.edu	37	12	11546380	11546380	+	Missense_Mutation	SNP	T	C	C	rs11054276		TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11546380T>C	uc010shk.1	-			c.632A>G	c.(631-633)AAA>AGA	p.K211R		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)															---	---	---	---	wgs		Missense_Mutation	SNP	11546380	11546380	12885	12	T	C	C	64	64	PRB2	C	4	4
TMEM132C	92293	broad.mit.edu	37	12	129189886	129189886	+	Silent	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129189886C>T	uc001uhs.3	+			c.2037C>T	c.(2035-2037)GGC>GGT	p.G679G		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	791	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1																		---	---	---	---	wgs		Silent	SNP	129189886	129189886	16578	12	C	T	T	27	27	TMEM132C	T	1	1
TMEM132C	92293	broad.mit.edu	37	12	129190103	129190103	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:129190103C>A	uc001uhs.3	+			c.2254C>A	c.(2254-2256)CTG>ATG	p.L752M		NM_001136103	NP_001129575	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	864	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1																		---	---	---	---	wgs		Missense_Mutation	SNP	129190103	129190103	16578	12	C	A	A	28	28	TMEM132C	A	2	2
TMTC2	160335	broad.mit.edu	37	12	83290168	83290168	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:83290168C>G	uc001szt.2	+			c.1226C>G	c.(1225-1227)ACG>AGG	p.T409R	TMTC2_uc001szr.1_Missense_Mutation_p.T409R|TMTC2_uc001szs.1_Missense_Mutation_p.T409R|TMTC2_uc010suk.1_Missense_Mutation_p.T164R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat	409	Helical; (Potential).					endoplasmic reticulum|integral to membrane	binding			ovary(2)	2																		---	---	---	---	wgs		Missense_Mutation	SNP	83290168	83290168	16802	12	C	G	G	19	19	TMTC2	G	3	3
UFM1	51569	broad.mit.edu	37	13	38924184	38924184	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38924184G>A	uc001uwu.2	+			c.51G>A	c.(49-51)CCG>CCA	p.P17P	UFM1_uc010abz.2_Silent_p.P17P|UFM1_uc010aca.2_Silent_p.P17P	NM_016617	NP_057701	P61960	UFM1_HUMAN	ubiquitin-fold modifier 1 precursor	17					protein ufmylation	cytoplasm|nucleus	protein binding				0		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)														---	---	---	---	wgs		Silent	SNP	38924184	38924184	17494	13	G	A	A	40	40	UFM1	A	1	1
CPEB1	64506	broad.mit.edu	37	15	83297040	83297040	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83297040T>C	uc002bit.2	-			c.44A>G	c.(43-45)TAC>TGC	p.Y15C	CPEB1_uc002biu.2_Intron|CPEB1_uc010uof.1_Intron|CPEB1_uc002biv.2_Intron	NM_001079533	NP_001073001	Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding	Error:Variant_position_missing_in_Q9BZB8_after_alignment					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---	wgs		Missense_Mutation	SNP	83297040	83297040	3938	15	T	C	C	57	57	CPEB1	C	4	4
PARN	5073	broad.mit.edu	37	16	14711453	14711453	+	Nonsense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14711453G>A	uc010uzd.1	-			c.382C>T	c.(382-384)CGA>TGA	p.R128*	PARN_uc010uzc.1_Nonsense_Mutation_p.R67*|PARN_uc010uze.1_Nonsense_Mutation_p.R82*|PARN_uc010uzf.1_Intron|PARN_uc010uzg.1_Non-coding_Transcript	NM_002582	NP_002573	O95453	PARN_HUMAN	poly(A)-specific ribonuclease (deadenylation	128					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			ovary(2)	2																		---	---	---	---	wgs		Nonsense_Mutation	SNP	14711453	14711453	11870	16	G	A	A	37	37	PARN	A	5	1
KRT27	342574	broad.mit.edu	37	17	38936677	38936677	+	Missense_Mutation	SNP	C	T	T	rs116334559	by1000genomes	TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38936677C>T	uc002hvg.2	-			c.559G>A	c.(559-561)GTG>ATG	p.V187M		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	187	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)																---	---	---	---	wgs		Missense_Mutation	SNP	38936677	38936677	8779	17	C	T	T	19	19	KRT27	T	1	1
NPEPPS	9520	broad.mit.edu	37	17	45664677	45664677	+	Silent	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45664677C>T	uc002ilr.3	+			c.1062C>T	c.(1060-1062)CTC>CTT	p.L354L	NPEPPS_uc010wkt.1_Silent_p.L350L|NPEPPS_uc010wku.1_Silent_p.L318L|NPEPPS_uc010wkv.1_5'UTR	NM_006310	NP_006301	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	354					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0																		---	---	---	---	wgs		Silent	SNP	45664677	45664677	10979	17	C	T	T	31	31	NPEPPS	T	1	1
POTEC	388468	broad.mit.edu	37	18	14537868	14537868	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:14537868G>A	uc010dln.2	-			c.742C>T	c.(742-744)CAC>TAC	p.H248Y	POTEC_uc010xaj.1_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	248	ANK 4.										0																		---	---	---	---	wgs		Missense_Mutation	SNP	14537868	14537868	12692	18	G	A	A	47	47	POTEC	A	2	2
POTEC	388468	broad.mit.edu	37	18	14537871	14537871	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:14537871C>T	uc010dln.2	-			c.739G>A	c.(739-741)GTC>ATC	p.V247I	POTEC_uc010xaj.1_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	247	ANK 4.										0																		---	---	---	---	wgs		Missense_Mutation	SNP	14537871	14537871	12692	18	C	T	T	17	17	POTEC	T	2	2
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:14542654C>A	uc010dln.2	-			c.492G>T	c.(490-492)ACG>ACT	p.T164T	POTEC_uc010xaj.1_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	164	ANK 1.										0																		---	---	---	---	wgs		Silent	SNP	14542654	14542654	12692	18	C	A	A	23	23	POTEC	A	1	1
ROCK1	6093	broad.mit.edu	37	18	18625253	18625253	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:18625253C>G	uc002kte.2	-			c.590G>C	c.(589-591)AGA>ACA	p.R197T		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein	197	Protein kinase.			R -> G (in Ref. 3; AAI13115).	actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|protein phosphorylation|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			lung(2)|breast(2)|central_nervous_system(1)	5	Melanoma(1;0.165)																	---	---	---	---	wgs		Missense_Mutation	SNP	18625253	18625253	13996	18	C	G	G	24	24	ROCK1	G	3	3
LOXHD1	125336	broad.mit.edu	37	18	44137328	44137328	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44137328T>C	uc010xcw.1	-			c.3341A>G	c.(3340-3342)AAC>AGC	p.N1114S	LOXHD1_uc002lcg.1_Missense_Mutation_p.N836S|LOXHD1_uc002lce.3_5'Flank|LOXHD1_uc002lcf.3_Missense_Mutation_p.N3S|LOXHD1_uc010xcv.1_Missense_Mutation_p.N47S|LOXHD1_uc010xcx.1_5'Flank	NM_144612	NP_653213	Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1 isoform 1	836	PLAT 6.				sensory perception of sound	stereocilium	protein binding				0																		---	---	---	---	wgs		Missense_Mutation	SNP	44137328	44137328	9271	18	T	C	C	60	60	LOXHD1	C	4	4
ZNF709	163051	broad.mit.edu	37	19	12575330	12575330	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12575330A>G	uc002mtv.3	-			c.1406T>C	c.(1405-1407)ATT>ACT	p.I469T	ZNF709_uc002mtw.3_Missense_Mutation_p.I437T|ZNF709_uc002mtx.3_Missense_Mutation_p.I469T	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	zinc finger protein 709 isoform a	469	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	wgs		Missense_Mutation	SNP	12575330	12575330	18709	19	A	G	G	4	4	ZNF709	G	4	4
TDRD12	91646	broad.mit.edu	37	19	33309043	33309043	+	Silent	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33309043C>A	uc002ntq.2	+			c.3363C>A	c.(3361-3363)TCC>TCA	p.S1121S		TDRD12		Q587J7	TDR12_HUMAN	RecName: Full=Tudor domain-containing protein 12; AltName: Full=ES cell-associated transcript 8 protein;	1121							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	Esophageal squamous(110;0.137)																	---	---	---	---	wgs		Silent	SNP	33309043	33309043	16258	19	C	A	A	23	23	TDRD12	A	1	1
RYR1	6261	broad.mit.edu	37	19	39052074	39052074	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39052074G>A	uc002oit.2	+			c.12604G>A	c.(12604-12606)GCC>ACC	p.A4202T	RYR1_uc002oiu.2_Missense_Mutation_p.A4197T|RYR1_uc002oiv.1_Missense_Mutation_p.A1111T	NM_000540	NP_000531	P21817	RYR1_HUMAN	skeletal muscle ryanodine receptor isoform 1	4202					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(7)|pancreas(2)|breast(1)	10	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)													---	---	---	---	wgs		Missense_Mutation	SNP	39052074	39052074	14248	19	G	A	A	38	38	RYR1	A	1	1
FCGBP	8857	broad.mit.edu	37	19	40373950	40373950	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40373950G>T	uc002omp.3	-			c.12128C>A	c.(12127-12129)ACC>AAC	p.T4043N		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4043	Cys-rich.			T -> N (in Ref. 1; BAA19526).		extracellular region	protein binding			ovary(4)|central_nervous_system(1)	5	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---	wgs		Missense_Mutation	SNP	40373950	40373950	6015	19	G	T	T	44	44	FCGBP	T	2	2
PSG6	5675	broad.mit.edu	37	19	43585334	43585334	+	Silent	SNP	T	G	G	rs79582550		TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43585334T>G	uc002ovi.2	-			c.129A>C	c.(127-129)CCA>CCC	p.P43P	PSG6_uc010xwk.1_Intron|PSG2_uc002ovr.2_Silent_p.P43P|PSG2_uc002ovq.3_Silent_p.P43P|PSG2_uc010eiq.1_Silent_p.P43P|PSG2_uc002ovs.3_Silent_p.P43P|PSG2_uc002ovt.3_Silent_p.P43P	PSG6		Q00889	PSG6_HUMAN	SubName: Full=Putative uncharacterized protein PSG6;	43	Ig-like V-type.				female pregnancy	extracellular region				ovary(1)	1		Prostate(69;0.00899)																---	---	---	---	wgs		Silent	SNP	43585334	43585334	13112	19	T	G	G	63	63	PSG6	G	4	4
PDE4DIP	9659	broad.mit.edu	37	1	144882799	144882799	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144882799C>A	uc001elw.3	-			c.3220G>T	c.(3220-3222)GAG>TAG	p.E1074*	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.E1140*|PDE4DIP_uc001elv.3_Nonsense_Mutation_p.E81*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1074					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(3)	3				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)														---	---	---	---	wgs		Nonsense_Mutation	SNP	144882799	144882799	12064	1	C	A	A	31	31	PDE4DIP	A	5	1
NBPF10	100132406	broad.mit.edu	37	1	145359169	145359169	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145359169T>A	uc001end.3	+			c.9334T>A	c.(9334-9336)TTG>ATG	p.L3112M	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Intron	NM_001039703	NP_001034792			hypothetical protein LOC100132406												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)														---	---	---	---	wgs		Missense_Mutation	SNP	145359169	145359169	10589	1	T	A	A	56	56	NBPF10	A	4	4
NBPF14	25832	broad.mit.edu	37	1	148015788	148015788	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:148015788T>C	uc001eqq.2	-			c.843A>G	c.(841-843)AGA>AGG	p.R281R	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqf.2_Intron|LOC200030_uc001eqg.2_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc010pab.1_Intron|NBPF14_uc010pac.1_Intron|NBPF14_uc001eqx.2_Intron|NBPF14_uc010pae.1_Intron|NBPF14_uc010paf.1_Intron|NBPF14_uc001eqs.1_Silent_p.R160R	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	hypothetical protein LOC25832	281	NBPF 3.					cytoplasm				ovary(1)	1	all_hematologic(923;0.032)																	---	---	---	---	wgs		Silent	SNP	148015788	148015788	10591	1	T	C	C	54	54	NBPF14	C	4	4
NBPF15	284565	broad.mit.edu	37	1	148579625	148579625	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:148579625T>C	uc001esc.2	+			c.195T>C	c.(193-195)GAT>GAC	p.D65D	NBPF15_uc001esb.1_Silent_p.D65D	NM_173638	NP_775909	Q8N660	NBPFF_HUMAN	hypothetical protein LOC284565	65						cytoplasm					0	all_hematologic(923;0.032)																	---	---	---	---	wgs		Silent	SNP	148579625	148579625	10592	1	T	C	C	50	50	NBPF15	C	4	4
SPRR2E	6704	broad.mit.edu	37	1	153066067	153066067	+	Missense_Mutation	SNP	C	T	T	rs75229137		TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153066067C>T	uc001fbh.2	-			c.161G>A	c.(160-162)TGT>TAT	p.C54Y	SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	small proline-rich protein 2E	54					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			ovary(1)	1	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---	wgs		Missense_Mutation	SNP	153066067	153066067	15614	1	C	T	T	17	17	SPRR2E	T	2	2
GTPBP1	9567	broad.mit.edu	37	22	39124008	39124008	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39124008C>A	uc003awg.2	+			c.1558C>A	c.(1558-1560)CAG>AAG	p.Q520K		NM_004286	NP_004277	O00178	GTPB1_HUMAN	GTP binding protein 1	520					immune response|signal transduction		GTP binding|GTPase activity			ovary(1)	1	Melanoma(58;0.04)																	---	---	---	---	wgs		Missense_Mutation	SNP	39124008	39124008	7158	22	C	A	A	25	25	GTPBP1	A	2	2
TGOLN2	10618	broad.mit.edu	37	2	85554438	85554438	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85554438T>C	uc010fgd.1	-			c.417A>G	c.(415-417)AAA>AAG	p.K139K	TGOLN2_uc002soz.2_Silent_p.K139K|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Silent_p.K139K|TGOLN2_uc002spc.1_Silent_p.K139K	NM_006464	NP_006455	O43493	TGON2_HUMAN	trans-golgi network protein 2	139	Extracellular (Potential).|7.|14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding				0																		---	---	---	---	wgs		Silent	SNP	85554438	85554438	16364	2	T	C	C	52	52	TGOLN2	C	4	4
SNRNP200	23020	broad.mit.edu	37	2	96962348	96962348	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96962348C>A	uc002svu.2	-			c.1597G>T	c.(1597-1599)GTG>TTG	p.V533L		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	533	Helicase ATP-binding 1.				cis assembly of pre-catalytic spliceosome|response to stimulus|visual perception	catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|large_intestine(1)|skin(1)	7																		---	---	---	---	wgs		Missense_Mutation	SNP	96962348	96962348	15352	2	C	A	A	17	17	SNRNP200	A	2	2
ANKRD36B	57730	broad.mit.edu	37	2	98201858	98201858	+	Silent	SNP	A	G	G	rs2442304		TCGA-43-3394-01	TCGA-43-3394-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98201858A>G	uc010yvc.1	-			c.165T>C	c.(163-165)ACT>ACC	p.T55T	ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Non-coding_Transcript	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B	55	ANK 2.										0																		---	---	---	---	wgs		Silent	SNP	98201858	98201858	674	2	A	G	G	7	7	ANKRD36B	G	4	4
RABL3	285282	broad.mit.edu	37	3	120417335	120417335	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120417335G>A	uc003edx.2	-			c.469C>T	c.(469-471)CGC>TGC	p.R157C		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	157	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding				0				GBM - Glioblastoma multiforme(114;0.151)														---	---	---	---	wgs		Missense_Mutation	SNP	120417335	120417335	13431	3	G	A	A	38	38	RABL3	A	1	1
HLTF	6596	broad.mit.edu	37	3	148759325	148759325	+	Silent	SNP	T	A	A	rs2290725	byFrequency;by1000genomes	TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148759325T>A	uc003ewq.1	-			c.2328A>T	c.(2326-2328)GCA>GCT	p.A776A	HLTF_uc003ewr.1_Silent_p.A776A|HLTF_uc003ews.1_Silent_p.A775A|HLTF_uc010hve.1_Silent_p.A775A	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	776	RING-type.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding				0			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---	wgs		Silent	SNP	148759325	148759325	7506	3	T	A	A	59	59	HLTF	A	4	4
ECT2	1894	broad.mit.edu	37	3	172473274	172473274	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172473274C>A	uc003fil.1	+			c.212C>A	c.(211-213)ACT>AAT	p.T71N	ECT2_uc010hwv.1_Missense_Mutation_p.T71N|ECT2_uc003fih.2_Intron|ECT2_uc003fii.2_Intron|ECT2_uc003fij.1_Intron|ECT2_uc003fik.1_Intron	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	70					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			ovary(1)|breast(1)|skin(1)	3	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---	wgs		Missense_Mutation	SNP	172473274	172473274	5088	3	C	A	A	20	20	ECT2	A	2	2
MUC4	4585	broad.mit.edu	37	3	195512830	195512830	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195512830A>G	uc011bto.1	-			c.5621T>C	c.(5620-5622)CTT>CCT	p.L1874P	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	632					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---	wgs		Missense_Mutation	SNP	195512830	195512830	10372	3	A	G	G	3	3	MUC4	G	4	4
MST1	4485	broad.mit.edu	37	3	49723296	49723296	+	Missense_Mutation	SNP	G	A	A	rs2087733		TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49723296G>A	uc003cxg.2	-			c.1247C>T	c.(1246-1248)CCG>CTG	p.P416L	MST1_uc011bcs.1_Missense_Mutation_p.R455C	NM_020998	NP_066278	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth	402	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)														---	---	---	---	wgs		Missense_Mutation	SNP	49723296	49723296	10283	3	G	A	A	39	39	MST1	A	1	1
PCDHGB5	56101	broad.mit.edu	37	5	140778413	140778413	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140778413C>T	uc003lkf.1	+			c.719C>T	c.(718-720)CCG>CTG	p.P240L	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.P240L	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	240	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	wgs		Missense_Mutation	SNP	140778413	140778413	11986	5	C	T	T	23	23	PCDHGB5	T	1	1
ITGA1	3672	broad.mit.edu	37	5	52160645	52160645	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52160645T>C	uc003jou.2	+			c.344T>C	c.(343-345)TTT>TCT	p.F115S	ITGA1_uc003jov.2_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	integrin, alpha 1 precursor	115	FG-GAP 2.|Extracellular (Potential).				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			ovary(1)|lung(1)	2		Lung NSC(810;5.05e-05)|Breast(144;0.0851)																---	---	---	---	wgs		Missense_Mutation	SNP	52160645	52160645	8176	5	T	C	C	64	64	ITGA1	C	4	4
ZDHHC11	79844	broad.mit.edu	37	5	840644	840644	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:840644G>C	uc011cma.1	-			c.750C>G	c.(748-750)CAC>CAG	p.H250Q	ZDHHC11_uc003jbj.2_Non-coding_Transcript|ZDHHC11_uc010itd.1_Non-coding_Transcript|ZDHHC11_uc003jbk.2_Missense_Mutation_p.H37Q	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	250	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			pancreas(1)	1			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)															---	---	---	---	wgs		Missense_Mutation	SNP	840644	840644	18189	5	G	C	C	44	44	ZDHHC11	C	3	3
MEF2C	4208	broad.mit.edu	37	5	88119733	88119733	+	De_novo_Start_InFrame	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:88119733C>A	uc003kjl.2	-			c.-127G>T	c.(-129--125)CAGGA>CATGA		MEF2C_uc003kji.2_De_novo_Start_InFrame|MEF2C_uc003kjj.2_De_novo_Start_InFrame|MEF2C_uc003kjk.2_De_novo_Start_InFrame|MEF2C_uc003kjm.2_De_novo_Start_InFrame	NM_001131005	NP_001124477			myocyte enhancer factor 2C isoform 2						apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of gene-specific transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of gene-specific transcription from RNA polymerase II promoter|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	promoter binding|protein binding|RNA polymerase II transcription factor activity|sequence-specific DNA binding transcription factor activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)														---	---	---	---	wgs		De_novo_Start_InFrame	SNP	88119733	88119733	9846	5	C	A	A	24	24	MEF2C	A	5	2
BCLAF1	9774	broad.mit.edu	37	6	136599688	136599688	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136599688G>T	uc003qgx.1	-			c.331C>A	c.(331-333)CGT>AGT	p.R111S	BCLAF1_uc003qgw.1_Missense_Mutation_p.R111S|BCLAF1_uc003qgy.1_Missense_Mutation_p.R109S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R109S	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	111					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|transcription repressor activity			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---	wgs		Missense_Mutation	SNP	136599688	136599688	1404	6	G	T	T	40	40	BCLAF1	T	1	1
HIST1H2AC	8334	broad.mit.edu	37	6	26124978	26124978	+	Splice_Site	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26124978G>A	uc003ngn.2	+			c.566_splice	c.e1+1		HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngo.2_Splice_Site_SNP|HIST1H2AC_uc003ngp.2_Intron	H2A/l				Homo sapiens histone cluster 1, H2ac, mRNA (cDNA clone IMAGE:2988620).						nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---	wgs		Splice_Site_SNP	SNP	26124978	26124978	7415	6	G	A	A	44	44	HIST1H2AC	A	5	2
HLA-DQA2	3118	broad.mit.edu	37	6	32709205	32709205	+	De_novo_Start_OutOfFrame	SNP	C	A	A			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32709205C>A	uc003obx.2	+			c.-15C>A	c.(-17--13)GGCTG>GGATG			NM_020056	NP_064440			major histocompatibility complex, class II, DQ						antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity				0					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	wgs		De_novo_Start_OutOfFrame	SNP	32709205	32709205	7496	6	C	A	A	28	28	HLA-DQA2	A	5	2
AGBL3	340351	broad.mit.edu	37	7	134730612	134730612	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134730612T>C	uc011kpw.1	+			c.1791T>C	c.(1789-1791)TTT>TTC	p.F597F		NM_178563	NP_848658	Q8NEM8	CBPC3_HUMAN	carboxypeptidase 3, cytosolic	597					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding				0																		---	---	---	---	wgs		Silent	SNP	134730612	134730612	379	7	T	C	C	63	63	AGBL3	C	4	4
VIPR2	7434	broad.mit.edu	37	7	158828687	158828687	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158828687G>T	uc003woh.2	-			c.765C>A	c.(763-765)TGC>TGA	p.C255*	VIPR2_uc010lqx.2_Non-coding_Transcript|VIPR2_uc010lqy.2_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	255	Helical; Name=4; (Potential).				cell-cell signaling	integral to plasma membrane				lung(1)|central_nervous_system(1)	2	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---	wgs		Nonsense_Mutation	SNP	158828687	158828687	17737	7	G	T	T	46	46	VIPR2	T	5	2
CCM2	83605	broad.mit.edu	37	7	45103574	45103574	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3394-01	TCGA-43-3394-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45103574A>G	uc003tms.2	+			c.325A>G	c.(325-327)ATC>GTC	p.I109V	CCM2_uc003tmn.2_Non-coding_Transcript|CCM2_uc003tmo.2_Missense_Mutation_p.I88V|CCM2_uc003tmp.2_Missense_Mutation_p.I30V|CCM2_uc003tmq.2_Non-coding_Transcript|CCM2_uc003tmr.2_Missense_Mutation_p.I88V|CCM2_uc011kcb.1_Missense_Mutation_p.I51V|CCM2_uc011kcc.1_Intron	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 1	88	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0																		---	---	---	---	wgs		Missense_Mutation	SNP	45103574	45103574	3035	7	A	G	G	4	4	CCM2	G	4	4
ZNF679	168417	broad.mit.edu	37	7	63727064	63727064	+	Silent	SNP	C	G	G			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:63727064C>G	uc003tsx.2	+			c.1053C>G	c.(1051-1053)CCC>CCG	p.P351P		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	wgs		Silent	SNP	63727064	63727064	18681	7	C	G	G	24	24	ZNF679	G	3	3
RP1L1	94137	broad.mit.edu	37	8	10465152	10465152	+	Missense_Mutation	SNP	A	C	C			TCGA-43-3394-01	TCGA-43-3394-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10465152A>C	uc003wtc.2	-			c.6456T>G	c.(6454-6456)GAT>GAG	p.D2152E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2152					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---	wgs		Missense_Mutation	SNP	10465152	10465152	14012	8	A	C	C	8	8	RP1L1	C	4	4
PDLIM2	64236	broad.mit.edu	37	8	22447229	22447229	+	Silent	SNP	G	A	A			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:22447229G>A	uc003xcc.1	+			c.738G>A	c.(736-738)CAG>CAA	p.Q246Q	PDLIM2_uc003xby.2_Silent_p.Q246Q|PDLIM2_uc003xbz.2_Silent_p.Q246Q|PDLIM2_uc003xca.2_Silent_p.Q246Q|PDLIM2_uc003xcb.2_Silent_p.Q246Q|PDLIM2_uc003xcd.1_Silent_p.Q87Q	NM_176871	NP_789847	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 1	246						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)														---	---	---	---	wgs		Silent	SNP	22447229	22447229	12101	8	G	A	A	35	35	PDLIM2	A	2	2
ZNF658	26149	broad.mit.edu	37	9	40772202	40772202	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3394-01	TCGA-43-3394-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:40772202C>T	uc004abs.2	-			c.3073G>A	c.(3073-3075)GAT>AAT	p.D1025N	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.D1025N	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1025	C2H2-type 24.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)														---	---	---	---	wgs		Missense_Mutation	SNP	40772202	40772202	18664	9	C	T	T	29	29	ZNF658	T	2	2
ZNF658	26149	broad.mit.edu	37	9	40772206	40772206	+	Silent	SNP	T	C	C			TCGA-43-3394-01	TCGA-43-3394-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:40772206T>C	uc004abs.2	-			c.3069A>G	c.(3067-3069)GAA>GAG	p.E1023E	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Silent_p.E1023E	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1023	C2H2-type 24.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)														---	---	---	---	wgs		Silent	SNP	40772206	40772206	18664	9	T	C	C	52	52	ZNF658	C	4	4
SPANXN4	441525	broad.mit.edu	37	X	142122032	142122032	+	Nonstop_Mutation	SNP	G	T	T			TCGA-43-3394-01	TCGA-43-3394-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142122032G>T	uc004fbv.3	+			c.300G>T	c.(298-300)TAG>TAT	p.*100Y		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	SPANX family, member N4	100										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	wgs		Nonstop_Mutation	SNP	142122032	142122032	15501	23	G	T	T	36	36	SPANXN4	T	5	2
SMS	6611	broad.mit.edu	37	X	21997074	21997074	+	Missense_Mutation	SNP	A	C	C			TCGA-43-3394-01	TCGA-43-3394-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21997074A>C	uc004dag.2	+			c.740A>C	c.(739-741)GAC>GCC	p.D247A	SMS_uc010nfs.2_Non-coding_Transcript|SMS_uc010nft.2_Missense_Mutation_p.D24A	NM_004595	NP_004586	P52788	SPSY_HUMAN	spermine synthase	247					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			ovary(1)	1					Spermine(DB00127)													---	---	---	---	wgs		Missense_Mutation	SNP	21997074	21997074	15313	23	A	C	C	10	10	SMS	C	4	4
