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
OR2L8	391190	broad.mit.edu	37	1	248112725	248112726	+	Missense_Mutation	DNP	TG	AT	AT			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248112725_248112726TG>AT	uc001idt.1	+	1	566_567	c.566_567TG>AT	c.(565-567)ATG>AAT	p.M189N	OR2L13_uc001ids.2_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)															---	---	---	---	capture		Missense_Mutation	DNP	248112725	248112726	11415	1	TG	AT	AT	51	51	OR2L8	AT	4	4
ZNF37A	7587	broad.mit.edu	37	10	38407328	38407329	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:38407328_38407329GG>AT	uc001izk.2	+	8	2068_2069	c.1249_1250GG>AT	c.(1249-1251)GGG>ATG	p.G417M	ZNF37A_uc001izl.2_Missense_Mutation_p.G417M|ZNF37A_uc001izm.2_Missense_Mutation_p.G417M	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN	zinc finger protein 37a	417	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	DNP	38407328	38407329	18464	10	GG	AT	AT	47	47	ZNF37A	AT	2	2
GPR77	27202	broad.mit.edu	37	19	47844500	47844501	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47844500_47844501GT>AA	uc010ela.1	+	2	662_663	c.444_445GT>AA	c.(442-447)GCGTGC>GCAAGC	p.C149S	GPR77_uc002pgk.1_Missense_Mutation_p.C149S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	149	Cytoplasmic (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)														---	---	---	---	capture		Missense_Mutation	DNP	47844500	47844501	6984	19	GT	AA	AA	40	40	GPR77	AA	1	1
SCN1A	6323	broad.mit.edu	37	2	166870332	166870333	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166870332_166870333CC>AT	uc010zcz.1	-	18	3611_3612	c.3593_3594GG>AT	c.(3592-3594)AGG>AAT	p.R1198N	SCN1A_uc002udo.3_Missense_Mutation_p.R1078N|SCN1A_uc010fpk.2_Missense_Mutation_p.R1050N	NM_006920	NP_008851	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha	1209	III.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|skin(6)|large_intestine(1)	13					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)													---	---	---	---	capture		Missense_Mutation	DNP	166870332	166870333	14396	2	CC	AT	AT	30	30	SCN1A	AT	2	2
PLUNC	51297	broad.mit.edu	37	20	31825574	31825575	+	Nonsense_Mutation	DNP	CC	AT	AT			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825574_31825575CC>AT	uc002wyv.2	+	2	127_128	c.57_58CC>AT	c.(55-60)GCCCAG>GCATAG	p.Q20*	PLUNC_uc002wyt.3_Nonsense_Mutation_p.Q20*|PLUNC_uc002wyu.3_Nonsense_Mutation_p.Q20*	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	20					innate immune response	extracellular region	lipid binding				0																		---	---	---	---	capture		Nonsense_Mutation	DNP	31825574	31825575	12541	20	CC	AT	AT	22	22	PLUNC	AT	5	2
DGCR2	9993	broad.mit.edu	37	22	19055686	19055687	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19055686_19055687CC>AA	uc002zoq.1	-	3	502_503	c.254_255GG>TT	c.(253-255)CGG>CTT	p.R85L	DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R44L	NM_005137	NP_005128	P98153	IDD_HUMAN	integral membrane protein DGCR2 precursor	85	Extracellular (Potential).				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			large_intestine(1)	1	Colorectal(54;0.0993)																	---	---	---	---	capture		Missense_Mutation	DNP	19055686	19055687	4640	22	CC	AA	AA	26	26	DGCR2	AA	2	2
CSMD3	114788	broad.mit.edu	37	8	113240998	113240999	+	Nonsense_Mutation	DNP	GA	AT	AT			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113240998_113240999GA>AT	uc003ynu.2	-	70	11109_11110	c.10950_10951TC>AT	c.(10948-10953)TATCTT>TAATTT	p.3650_3651YL>*F	CSMD3_uc003yns.2_Nonsense_Mutation_p.2852_2853YL>*F|CSMD3_uc003ynt.2_Nonsense_Mutation_p.3610_3611YL>*F|CSMD3_uc011lhx.1_Nonsense_Mutation_p.3481_3482YL>*F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3650_3651	Helical; (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		Nonsense_Mutation	DNP	113240998	113240999	4087	8	GA	AT	AT	33	33	CSMD3	AT	5	2
SPTA1	6708	broad.mit.edu	37	1	158619725	158619725	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158619725delG	uc001fst.1	-	25	3689	c.3490delC	c.(3490-3492)CGCfs	p.R1164fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1164	Spectrin 11.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	158619725	158619725	15630	1	G	-	-	39	39	SPTA1	-	5	5
NID2	22795	broad.mit.edu	37	14	52520416	52520416	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52520416delG	uc001wzo.2	-	5	1544	c.1310delC	c.(1309-1311)CCAfs	p.P437fs	NID2_uc010tqs.1_Frame_Shift_Del_p.P437fs|NID2_uc010tqt.1_Frame_Shift_Del_p.P437fs|NID2_uc001wzp.2_Frame_Shift_Del_p.P437fs	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	437						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_indel		Frame_Shift_Del	DEL	52520416	52520416	10816	14	G	-	-	47	47	NID2	-	5	5
SPATA7	55812	broad.mit.edu	37	14	88892994	88892995	+	Frame_Shift_Ins	INS	-	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:88892994_88892995insA	uc001xwq.2	+	6	942_943	c.791_792insA	c.(790-792)AGAfs	p.R264fs	SPATA7_uc001xwr.2_Frame_Shift_Ins_p.R232fs|SPATA7_uc001xws.2_Frame_Shift_Ins_p.R200fs|SPATA7_uc001xwt.2_Frame_Shift_Ins_p.R158fs|SPATA7_uc001xwu.2_5'Flank	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	spermatogenesis-associated protein 7 isoform a	264					response to stimulus|visual perception					ovary(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Ins	INS	88892994	88892995	15524	14	-	A	A	33	33	SPATA7	A	5	5
IQGAP1	8826	broad.mit.edu	37	15	91010776	91010776	+	Frame_Shift_Del	DEL	T	-	-	rs1505936	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91010776delT	uc002bpl.1	+	18	2231	c.2130delT	c.(2128-2130)CCTfs	p.P710fs		NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	710	WW.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---	capture_indel		Frame_Shift_Del	DEL	91010776	91010776	8117	15	T	-	-	54	54	IQGAP1	-	5	5
PRKCA	5578	broad.mit.edu	37	17	64738846	64738847	+	Frame_Shift_Ins	INS	-	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64738846_64738847insC	uc002jfp.1	+	13	1536_1537	c.1492_1493insC	c.(1492-1494)TTCfs	p.F498fs	PRKCA_uc002jfo.1_Frame_Shift_Ins_p.F369fs	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	498	Protein kinase.				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_indel		Frame_Shift_Ins	INS	64738846	64738847	12950	17	-	C	C	56	56	PRKCA	C	5	5
DPP9	91039	broad.mit.edu	37	19	4704256	4704257	+	Frame_Shift_Ins	INS	-	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4704256_4704257insC	uc002mba.2	-	6	744_745	c.486_487insG	c.(484-489)CGCCTGfs	p.R162fs	DPP9_uc002mbb.2_Frame_Shift_Ins_p.R162fs|DPP9_uc002mbc.2_Frame_Shift_Ins_p.R162fs	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	dipeptidylpeptidase 9	133_134					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)														---	---	---	---	capture_indel		Frame_Shift_Ins	INS	4704256	4704257	4917	19	-	C	C	35	35	DPP9	C	5	5
ABCB5	340273	broad.mit.edu	37	7	20795082	20795082	+	Frame_Shift_Del	DEL	G	-	-	rs61999295	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20795082delG	uc003suw.3	+	19	2820	c.2274delG	c.(2272-2274)ACGfs	p.T758fs	ABCB5_uc010kuh.2_Frame_Shift_Del_p.T1203fs	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	758	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	20795082	20795082	45	7	G	-	-	39	39	ABCB5	-	5	5
ACOT7	11332	broad.mit.edu	37	1	6354951	6354951	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6354951T>C	uc001ams.2	-	7	989	c.832A>G	c.(832-834)ATT>GTT	p.I278V	ACOT7_uc010nzq.1_Missense_Mutation_p.I163V|ACOT7_uc001amt.2_Missense_Mutation_p.I268V|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.I227V|ACOT7_uc001amr.2_Missense_Mutation_p.I248V	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	278	Acyl coenzyme A hydrolase 2.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)														---	---	---	---	capture		Missense_Mutation	SNP	6354951	6354951	156	1	T	C	C	51	51	ACOT7	C	4	4
ACOT7	11332	broad.mit.edu	37	1	6409851	6409851	+	Silent	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6409851T>A	uc001ams.2	-	2	406	c.249A>T	c.(247-249)GCA>GCT	p.A83A	ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Silent_p.A73A|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.A32A|ACOT7_uc001amr.2_Silent_p.A53A	NM_181864	NP_863654	O00154	BACH_HUMAN	acyl-CoA thioesterase 7 isoform hBACHb	83	Acyl coenzyme A hydrolase 1.					mitochondrion|nucleus	carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity				0	Ovarian(185;0.0634)|all_lung(157;0.175)	all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481)														---	---	---	---	capture		Silent	SNP	6409851	6409851	156	1	T	A	A	55	55	ACOT7	A	4	4
MTOR	2475	broad.mit.edu	37	1	11288729	11288729	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11288729C>A	uc001asd.2	-	19	3147	c.3026G>T	c.(3025-3027)CGG>CTG	p.R1009L		NM_004958	NP_004949	P42345	MTOR_HUMAN	FK506 binding protein 12-rapamycin associated	1009	HEAT 4.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---	capture		Missense_Mutation	SNP	11288729	11288729	10347	1	C	A	A	23	23	MTOR	A	1	1
ARHGEF19	128272	broad.mit.edu	37	1	16525137	16525137	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16525137C>A	uc001ayc.1	-	16	2491	c.2354G>T	c.(2353-2355)CGG>CTG	p.R785L	ARHGEF19_uc009voo.1_Missense_Mutation_p.R138L|ARHGEF19_uc001ayb.1_Missense_Mutation_p.R262L	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	785					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	16525137	16525137	916	1	C	A	A	23	23	ARHGEF19	A	1	1
LUZP1	7798	broad.mit.edu	37	1	23418882	23418882	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23418882C>G	uc001bgk.2	-	4	2257	c.1873G>C	c.(1873-1875)GAA>CAA	p.E625Q	LUZP1_uc010odv.1_Missense_Mutation_p.E625Q|LUZP1_uc001bgl.2_Missense_Mutation_p.E625Q|LUZP1_uc001bgm.1_Missense_Mutation_p.E625Q	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	leucine zipper protein 1	625						nucleus					0		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	23418882	23418882	9462	1	C	G	G	32	32	LUZP1	G	3	3
ARID1A	8289	broad.mit.edu	37	1	27101260	27101260	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27101260G>T	uc001bmv.1	+	18	4915	c.4542G>T	c.(4540-4542)ACG>ACT	p.T1514T	ARID1A_uc001bmt.1_Silent_p.T1513T|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.T1131T|ARID1A_uc001bmx.1_Silent_p.T360T|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	AT rich interactive domain 1A isoform a	1514					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		Silent	SNP	27101260	27101260	928	1	G	T	T	39	39	ARID1A	T	1	1
CSMD2	114784	broad.mit.edu	37	1	34158623	34158623	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34158623G>A	uc001bxn.1	-	25	3868	c.3839C>T	c.(3838-3840)TCG>TTG	p.S1280L	CSMD2_uc001bxm.1_Missense_Mutation_p.S1320L|CSMD2_uc001bxo.1_Missense_Mutation_p.S193L	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1280	CUB 8.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---	capture		Missense_Mutation	SNP	34158623	34158623	4086	1	G	A	A	37	37	CSMD2	A	1	1
GJB5	2709	broad.mit.edu	37	1	35223302	35223302	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35223302G>T	uc001bxu.2	+	2	471	c.371G>T	c.(370-372)CGG>CTG	p.R124L	GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	124	Cytoplasmic (Potential).				cell communication|epidermis development	connexon complex|integral to membrane				ovary(1)	1		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Missense_Mutation	SNP	35223302	35223302	6679	1	G	T	T	39	39	GJB5	T	1	1
DLGAP3	58512	broad.mit.edu	37	1	35351752	35351752	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35351752G>A	uc001byc.2	-	4	1521	c.1521C>T	c.(1519-1521)ATC>ATT	p.I507I		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	507					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Silent	SNP	35351752	35351752	4741	1	G	A	A	41	41	DLGAP3	A	2	2
TEKT2	27285	broad.mit.edu	37	1	36552840	36552840	+	Silent	SNP	G	T	T	rs146736752	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36552840G>T	uc001bzr.2	+	7	910	c.783G>T	c.(781-783)ACG>ACT	p.T261T	TEKT2_uc001bzs.2_Silent_p.T167T|ADPRHL2_uc001bzt.2_5'Flank|ADPRHL2_uc001bzu.2_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	tektin 2	261	Potential.				cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus					0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---	capture		Silent	SNP	36552840	36552840	16280	1	G	T	T	39	39	TEKT2	T	1	1
CSF3R	1441	broad.mit.edu	37	1	36933539	36933539	+	Missense_Mutation	SNP	C	A	A	rs148104401	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36933539C>A	uc001caw.1	-	14	1926	c.1748G>T	c.(1747-1749)CGT>CTT	p.R583L	CSF3R_uc001cat.1_Missense_Mutation_p.R146L|CSF3R_uc009vvc.1_Missense_Mutation_p.R112L|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.R583L|CSF3R_uc001cax.1_Missense_Mutation_p.R583L|CSF3R_uc001cay.1_Missense_Mutation_p.R583L	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor isoform a	583	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|ovary(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)													---	---	---	---	capture		Missense_Mutation	SNP	36933539	36933539	4078	1	C	A	A	19	19	CSF3R	A	1	1
ZC3H12A	80149	broad.mit.edu	37	1	37947224	37947224	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37947224G>T	uc001cbb.3	+	4	756	c.606G>T	c.(604-606)CTG>CTT	p.L202L	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	202					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---	capture		Silent	SNP	37947224	37947224	18149	1	G	T	T	47	47	ZC3H12A	T	2	2
MACF1	23499	broad.mit.edu	37	1	39833823	39833823	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39833823C>T	uc010oiu.1	+	14	8226	c.8095C>T	c.(8095-8097)CTC>TTC	p.L2699F	MACF1_uc010ois.1_Missense_Mutation_p.L2197F|MACF1_uc001cda.1_Missense_Mutation_p.L2105F|MACF1_uc001cdc.1_Missense_Mutation_p.L1284F|MACF1_uc001cdb.1_Missense_Mutation_p.L1284F	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4264	LRR 15.				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		Missense_Mutation	SNP	39833823	39833823	9521	1	C	T	T	28	28	MACF1	T	2	2
MACF1	23499	broad.mit.edu	37	1	39905000	39905000	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39905000G>T	uc010oiu.1	+	37	13735	c.13604G>T	c.(13603-13605)CGG>CTG	p.R4535L	MACF1_uc010ois.1_Missense_Mutation_p.R4033L	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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		Missense_Mutation	SNP	39905000	39905000	9521	1	G	T	T	39	39	MACF1	T	1	1
KIAA0467	23334	broad.mit.edu	37	1	43908273	43908273	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43908273C>A	uc001cjk.1	+	43	5900	c.5438C>A	c.(5437-5439)CCC>CAC	p.P1813H		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2712						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Missense_Mutation	SNP	43908273	43908273	8485	1	C	A	A	22	22	KIAA0467	A	2	2
LEPR	3953	broad.mit.edu	37	1	66067350	66067350	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66067350G>T	uc001dci.2	+	9	1472	c.1270G>T	c.(1270-1272)GAA>TAA	p.E424*	LEPR_uc001dcg.2_Nonsense_Mutation_p.E424*|LEPR_uc001dch.2_Nonsense_Mutation_p.E424*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.E424*|LEPR_uc001dck.2_Nonsense_Mutation_p.E424*	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	424	Extracellular (Potential).|Ig-like.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---	capture		Nonsense_Mutation	SNP	66067350	66067350	9052	1	G	T	T	45	45	LEPR	T	5	2
MSH4	4438	broad.mit.edu	37	1	76342658	76342658	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:76342658C>A	uc001dhd.1	+	10	1384	c.1343C>A	c.(1342-1344)GCT>GAT	p.A448D		NM_002440	NP_002431	O15457	MSH4_HUMAN	mutS homolog 4	448					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			lung(3)|ovary(2)	5													MMR					---	---	---	---	capture		Missense_Mutation	SNP	76342658	76342658	10265	1	C	A	A	28	28	MSH4	A	2	2
PRKACB	5567	broad.mit.edu	37	1	84663425	84663425	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84663425G>T	uc001djj.2	+	7	824	c.560G>T	c.(559-561)GGG>GTG	p.G187V	PRKACB_uc001djl.2_Missense_Mutation_p.G234V|PRKACB_uc010ort.1_Missense_Mutation_p.G194V|PRKACB_uc001djn.2_Missense_Mutation_p.G191V|PRKACB_uc010oru.1_Missense_Mutation_p.G175V|PRKACB_uc001djp.2_Missense_Mutation_p.G193V|PRKACB_uc001djq.2_Missense_Mutation_p.G157V|PRKACB_uc010orv.1_Missense_Mutation_p.G174V|PRKACB_uc001dji.2_Missense_Mutation_p.G187V|PRKACB_uc001djk.2_Missense_Mutation_p.G234V|PRKACB_uc009wcf.1_Missense_Mutation_p.G193V	NM_002731	NP_002722	P22694	KAPCB_HUMAN	cAMP-dependent protein kinase catalytic subunit	187	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			lung(2)|ovary(1)	3				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)														---	---	---	---	capture		Missense_Mutation	SNP	84663425	84663425	12941	1	G	T	T	43	43	PRKACB	T	2	2
LRRC8D	55144	broad.mit.edu	37	1	90400188	90400188	+	Missense_Mutation	SNP	T	C	C	rs112842021		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:90400188T>C	uc001dnm.2	+	3	1986	c.1561T>C	c.(1561-1563)TGC>CGC	p.C521R	LRRC8D_uc001dnn.2_Missense_Mutation_p.C521R	NM_001134479	NP_001127951	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member	521	LRR 1.					integral to membrane	protein binding			ovary(2)	2		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)														---	---	---	---	capture		Missense_Mutation	SNP	90400188	90400188	9400	1	T	C	C	55	55	LRRC8D	C	4	4
DCLRE1B	64858	broad.mit.edu	37	1	114454557	114454557	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114454557G>T	uc001eeg.2	+	4	1514	c.1343G>T	c.(1342-1344)AGG>ATG	p.R448M	DCLRE1B_uc001eeh.2_Intron|DCLRE1B_uc001eei.2_Missense_Mutation_p.R322M	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	448					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding				0	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)									Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---	capture		Missense_Mutation	SNP	114454557	114454557	4466	1	G	T	T	35	35	DCLRE1B	T	2	2
PIAS3	10401	broad.mit.edu	37	1	145580518	145580518	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145580518C>G	uc001eoc.1	+	7	909	c.818C>G	c.(817-819)TCT>TGT	p.S273C	NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	273	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)																	---	---	---	---	capture		Missense_Mutation	SNP	145580518	145580518	12301	1	C	G	G	32	32	PIAS3	G	3	3
HIST2H2BE	8349	broad.mit.edu	37	1	149858024	149858024	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149858024G>T	uc001etc.2	-	1	209	c.167C>A	c.(166-168)TCG>TAG	p.S56*	HIST2H2AC_uc001etd.2_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---	capture		Nonsense_Mutation	SNP	149858024	149858024	7466	1	G	T	T	37	37	HIST2H2BE	T	5	1
SELENBP1	8991	broad.mit.edu	37	1	151337409	151337409	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151337409G>C	uc001exx.2	-	11	1296	c.1249C>G	c.(1249-1251)CTC>GTC	p.L417V	SELENBP1_uc010pcy.1_Missense_Mutation_p.L459V|SELENBP1_uc001exy.2_Missense_Mutation_p.L314V|SELENBP1_uc001exz.2_Missense_Mutation_p.L314V|SELENBP1_uc010pcz.1_Missense_Mutation_p.L355V|SELENBP1_uc009wms.2_Missense_Mutation_p.L253V|SELENBP1_uc009wmt.2_Missense_Mutation_p.L314V|SELENBP1_uc001eya.2_Missense_Mutation_p.L353V|SELENBP1_uc009wmu.2_3'UTR	NM_003944	NP_003935	Q13228	SBP1_HUMAN	selenium binding protein 1	417					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding				0	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151337409	151337409	14500	1	G	C	C	33	33	SELENBP1	C	3	3
TRIM46	80128	broad.mit.edu	37	1	155148369	155148369	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155148369G>T	uc001fhs.1	+	3	414	c.331G>T	c.(331-333)GGG>TGG	p.G111W	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.G98W|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.G111W|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_5'UTR|TRIM46_uc001fhu.1_Missense_Mutation_p.G88W|TRIM46_uc009wpg.1_Missense_Mutation_p.G98W|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhv.3_Missense_Mutation_p.G98W|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	111						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---	capture		Missense_Mutation	SNP	155148369	155148369	17066	1	G	T	T	47	47	TRIM46	T	2	2
UBQLN4	56893	broad.mit.edu	37	1	156012001	156012001	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156012001C>A	uc001fna.2	-	8	1317	c.1293G>T	c.(1291-1293)GCG>GCT	p.A431A	UBQLN4_uc010pgx.1_Silent_p.A411A	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	ataxin-1 ubiquitin-like interacting protein	431						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			pancreas(1)|skin(1)	2	Hepatocellular(266;0.133)|all_neural(408;0.195)																	---	---	---	---	capture		Silent	SNP	156012001	156012001	17457	1	C	A	A	23	23	UBQLN4	A	1	1
APOA1BP	128240	broad.mit.edu	37	1	156563703	156563703	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156563703G>T	uc001fph.2	+	6	733	c.694G>T	c.(694-696)GGG>TGG	p.G232W	APOA1BP_uc001fpg.2_3'UTR|APOA1BP_uc001fpi.2_Missense_Mutation_p.R213M|APOA1BP_uc001fpj.2_Missense_Mutation_p.G149W|APOA1BP_uc001fpk.2_Missense_Mutation_p.G129W|APOA1BP_uc010php.1_Missense_Mutation_p.G129W	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	232	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156563703	156563703	792	1	G	T	T	35	35	APOA1BP	T	2	2
BCAN	63827	broad.mit.edu	37	1	156626131	156626131	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156626131G>T	uc001fpp.2	+	9	2336	c.2000G>T	c.(1999-2001)GGG>GTG	p.G667V		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	667	EGF-like.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156626131	156626131	1366	1	G	T	T	43	43	BCAN	T	2	2
FCRL3	115352	broad.mit.edu	37	1	157650786	157650786	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157650786G>A	uc001frb.2	-	12	2234	c.1942C>T	c.(1942-1944)CCA>TCA	p.P648S	FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.P648S|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.P374S|FCRL3_uc001frc.1_Missense_Mutation_p.P648S	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Fc receptor-like 3 precursor	648	ITIM motif 1.|Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(1)	4	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	157650786	157650786	6033	1	G	A	A	42	42	FCRL3	A	2	2
FCRL1	115350	broad.mit.edu	37	1	157773754	157773754	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157773754C>A	uc001frg.2	-	3	313	c.200G>T	c.(199-201)AGC>ATC	p.S67I	FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.S67I|FCRL1_uc001fri.2_Missense_Mutation_p.S67I|FCRL1_uc001frj.2_RNA	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1 isoform 1 precursor	67	Extracellular (Potential).|Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			skin(4)|ovary(3)	7	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	157773754	157773754	6031	1	C	A	A	28	28	FCRL1	A	2	2
CD1D	912	broad.mit.edu	37	1	158151939	158151939	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158151939G>T	uc001frr.2	+	4	945	c.446G>T	c.(445-447)TGG>TTG	p.W149L	CD1D_uc009wsr.1_Missense_Mutation_p.W149L|CD1D_uc009wss.2_Missense_Mutation_p.W149L|CD1D_uc009wst.1_Missense_Mutation_p.W45L	NM_001766	NP_001757	P15813	CD1D_HUMAN	CD1D antigen precursor	149	Extracellular (Potential).				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158151939	158151939	3104	1	G	T	T	47	47	CD1D	T	2	2
APCS	325	broad.mit.edu	37	1	159557995	159557995	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159557995C>A	uc001ftv.2	+	2	265	c.169C>A	c.(169-171)CGA>AGA	p.R57R		NM_001639	NP_001630	P02743	SAMP_HUMAN	serum amyloid P component precursor	57	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			ovary(1)|breast(1)	2	all_hematologic(112;0.0429)																	---	---	---	---	capture		Silent	SNP	159557995	159557995	777	1	C	A	A	31	31	APCS	A	1	1
CCDC19	25790	broad.mit.edu	37	1	159856431	159856431	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159856431C>T	uc001fui.2	-	6	655	c.637G>A	c.(637-639)GAG>AAG	p.E213K	CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E128K|CCDC19_uc001ful.2_Missense_Mutation_p.E128K|CCDC19_uc009wtc.1_Missense_Mutation_p.E213K	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	nasopharyngeal epithelium specific protein 1	213	Potential.					mitochondrion|soluble fraction				ovary(1)	1	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	159856431	159856431	2917	1	C	T	T	30	30	CCDC19	T	2	2
HSPA6	3310	broad.mit.edu	37	1	161495234	161495234	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161495234G>T	uc001gap.2	+	2	1446	c.786G>T	c.(784-786)CTG>CTT	p.L262L	HSPA6_uc001gaq.2_Silent_p.L262L	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	262					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---	capture		Silent	SNP	161495234	161495234	7714	1	G	T	T	46	46	HSPA6	T	2	2
ATF6	22926	broad.mit.edu	37	1	161823037	161823037	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161823037G>T	uc001gbr.2	+	12	1524	c.1457G>T	c.(1456-1458)TGG>TTG	p.W486L	ATF6_uc001gbq.1_Missense_Mutation_p.W486L	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	486	Lumenal (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)															---	---	---	---	capture		Missense_Mutation	SNP	161823037	161823037	1103	1	G	T	T	47	47	ATF6	T	2	2
KIFAP3	22920	broad.mit.edu	37	1	169993642	169993642	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169993642C>G	uc001ggv.2	-	9	1208	c.937G>C	c.(937-939)GAT>CAT	p.D313H	KIFAP3_uc010plx.1_Missense_Mutation_p.D15H	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	313					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---	capture		Missense_Mutation	SNP	169993642	169993642	8622	1	C	G	G	29	29	KIFAP3	G	3	3
MYOC	4653	broad.mit.edu	37	1	171605340	171605340	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171605340C>T	uc001ghu.2	-	3	1262	c.1240G>A	c.(1240-1242)GAA>AAA	p.E414K	MYOC_uc010pmk.1_Missense_Mutation_p.E356K	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	414	Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---	capture		Missense_Mutation	SNP	171605340	171605340	10481	1	C	T	T	31	31	MYOC	T	1	1
METTL13	51603	broad.mit.edu	37	1	171753518	171753518	+	Missense_Mutation	SNP	G	T	T	rs149343407	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171753518G>T	uc001ghz.2	+	2	1139	c.792G>T	c.(790-792)AGG>AGT	p.R264S	METTL13_uc001gia.2_Missense_Mutation_p.R178S|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.R263S	NM_015935	NP_057019	Q8N6R0	MTL13_HUMAN	CGI-01 protein isoform 1	264							methyltransferase activity|protein binding			kidney(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	171753518	171753518	9887	1	G	T	T	42	42	METTL13	T	2	2
TNN	63923	broad.mit.edu	37	1	175052998	175052998	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175052998C>T	uc001gkl.1	+	5	1274	c.1161C>T	c.(1159-1161)CCC>CCT	p.P387P	TNN_uc010pmx.1_Silent_p.P387P	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	387	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)														---	---	---	---	capture		Silent	SNP	175052998	175052998	16864	1	C	T	T	21	21	TNN	T	2	2
TNR	7143	broad.mit.edu	37	1	175372563	175372563	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175372563C>T	uc001gkp.1	-	2	770	c.689G>A	c.(688-690)TGT>TAT	p.C230Y	TNR_uc009wwu.1_Missense_Mutation_p.C230Y|TNR_uc010pmz.1_Missense_Mutation_p.C230Y	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	230	Cys-rich.|EGF-like 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---	capture		Missense_Mutation	SNP	175372563	175372563	16879	1	C	T	T	17	17	TNR	T	2	2
ABL2	27	broad.mit.edu	37	1	179078459	179078459	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179078459C>A	uc001gmj.3	-	12	2230	c.1943G>T	c.(1942-1944)AGG>ATG	p.R648M	ABL2_uc010pnf.1_Missense_Mutation_p.R648M|ABL2_uc010png.1_Missense_Mutation_p.R627M|ABL2_uc010pnh.1_Missense_Mutation_p.R627M|ABL2_uc001gmg.3_Missense_Mutation_p.R633M|ABL2_uc001gmi.3_Missense_Mutation_p.R633M|ABL2_uc001gmh.3_Missense_Mutation_p.R612M|ABL2_uc010pne.1_Missense_Mutation_p.R612M	NM_007314	NP_009298	P42684	ABL2_HUMAN	arg tyrosine kinase isoform b	648					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)			T	ETV6	AML								---	---	---	---	capture		Missense_Mutation	SNP	179078459	179078459	94	1	C	A	A	24	24	ABL2	A	2	2
CACNA1E	777	broad.mit.edu	37	1	181740495	181740495	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181740495T>C	uc001gow.2	+	36	5113	c.4948T>C	c.(4948-4950)TTT>CTT	p.F1650L	CACNA1E_uc009wxs.2_Missense_Mutation_p.F1538L|CACNA1E_uc001gox.1_Missense_Mutation_p.F876L|CACNA1E_uc009wxt.2_Missense_Mutation_p.F876L	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	1650	Extracellular (Potential).|IV.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	181740495	181740495	2658	1	T	C	C	56	56	CACNA1E	C	4	4
KIF21B	23046	broad.mit.edu	37	1	200946364	200946364	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200946364G>A	uc001gvs.1	-	31	4618	c.4301C>T	c.(4300-4302)GCC>GTC	p.A1434V	KIF21B_uc001gvr.1_Missense_Mutation_p.A1421V|KIF21B_uc009wzl.1_Missense_Mutation_p.A1434V|KIF21B_uc010ppn.1_Missense_Mutation_p.A1421V	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1434	WD 3.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---	capture		Missense_Mutation	SNP	200946364	200946364	8600	1	G	A	A	42	42	KIF21B	A	2	2
PPP1R12B	4660	broad.mit.edu	37	1	202400696	202400696	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202400696G>T	uc001gya.1	+	8	1234	c.1090G>T	c.(1090-1092)GAG>TAG	p.E364*	PPP1R12B_uc001gxy.2_Nonsense_Mutation_p.E364*|PPP1R12B_uc009xad.1_Nonsense_Mutation_p.E170*|PPP1R12B_uc009xae.1_Nonsense_Mutation_p.E364*|PPP1R12B_uc001gxz.1_Nonsense_Mutation_p.E364*	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	364	Glu-rich.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)															---	---	---	---	capture		Nonsense_Mutation	SNP	202400696	202400696	12790	1	G	T	T	41	41	PPP1R12B	T	5	2
SLC26A9	115019	broad.mit.edu	37	1	205887988	205887988	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205887988G>T	uc001hdq.2	-	19	2350	c.2236C>A	c.(2236-2238)CCA>ACA	p.P746T	SLC26A9_uc001hdm.2_5'Flank|SLC26A9_uc001hdn.2_5'Flank|SLC26A9_uc001hdo.2_Missense_Mutation_p.P414T|SLC26A9_uc001hdp.2_Missense_Mutation_p.P746T	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	746						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)													OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	205887988	205887988	15021	1	G	T	T	43	43	SLC26A9	T	2	2
SPATA17	128153	broad.mit.edu	37	1	218036154	218036154	+	Silent	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:218036154A>G	uc001hlh.1	+	10	1070	c.1044A>G	c.(1042-1044)TCA>TCG	p.S348S	SPATA17_uc001hli.2_Silent_p.S348S	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	348						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)														---	---	---	---	capture		Silent	SNP	218036154	218036154	15510	1	A	G	G	5	5	SPATA17	G	4	4
ITPKB	3707	broad.mit.edu	37	1	226924446	226924446	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226924446G>T	uc010pvo.1	-	2	1054	c.714C>A	c.(712-714)CCC>CCA	p.P238P	ITPKB_uc001hqh.2_Silent_p.P238P	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	238							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---	capture		Silent	SNP	226924446	226924446	8222	1	G	T	T	39	39	ITPKB	T	1	1
OBSCN	84033	broad.mit.edu	37	1	228456387	228456387	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228456387G>T	uc009xez.1	+	17	5062	c.5018G>T	c.(5017-5019)CGC>CTC	p.R1673L	OBSCN_uc001hsn.2_Missense_Mutation_p.R1673L|OBSCN_uc001hso.2_Missense_Mutation_p.R119L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	1673	Ig-like 17.			RV -> HM (in Ref. 1; CAC85750).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---	capture		Missense_Mutation	SNP	228456387	228456387	11217	1	G	T	T	38	38	OBSCN	T	1	1
NUP133	55746	broad.mit.edu	37	1	229588329	229588329	+	Silent	SNP	C	A	A	rs144837509		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229588329C>A	uc001htn.2	-	22	3134	c.3042G>T	c.(3040-3042)GCG>GCT	p.A1014A		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1014					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---	capture		Silent	SNP	229588329	229588329	11159	1	C	A	A	23	23	NUP133	A	1	1
NUP133	55746	broad.mit.edu	37	1	229596457	229596457	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229596457T>A	uc001htn.2	-	20	2837	c.2745A>T	c.(2743-2745)TTA>TTT	p.L915F		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	915					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---	capture		Missense_Mutation	SNP	229596457	229596457	11159	1	T	A	A	49	49	NUP133	A	4	4
TAF5L	27097	broad.mit.edu	37	1	229730434	229730434	+	Silent	SNP	C	T	T	rs148664199		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229730434C>T	uc001htq.2	-	5	1546	c.1380G>A	c.(1378-1380)TCG>TCA	p.S460S		NM_014409	NP_055224	O75529	TAF5L_HUMAN	PCAF associated factor 65 beta isoform a	460	WD 4.				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---	capture		Silent	SNP	229730434	229730434	16050	1	C	T	T	23	23	TAF5L	T	1	1
LYST	1130	broad.mit.edu	37	1	235840490	235840490	+	Splice_Site	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235840490T>A	uc001hxj.2	-	50	11116	c.10941_splice	c.e50-1	p.R3647_splice	LYST_uc001hxi.2_Splice_Site_p.R871_splice	NM_000081	NP_000072			lysosomal trafficking regulator						defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)											Chediak-Higashi_syndrome				---	---	---	---	capture		Splice_Site	SNP	235840490	235840490	9505	1	T	A	A	55	55	LYST	A	5	4
GPR137B	7107	broad.mit.edu	37	1	236343287	236343287	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236343287G>A	uc001hxq.2	+	4	887	c.796G>A	c.(796-798)GTC>ATC	p.V266I	GPR137B_uc001hxr.1_Missense_Mutation_p.V48I|GPR137B_uc009xge.2_RNA	NM_003272	NP_003263	O60478	G137B_HUMAN	G protein-coupled receptor 137B	266	Extracellular (Potential).					integral to plasma membrane|membrane fraction					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---	capture		Missense_Mutation	SNP	236343287	236343287	6920	1	G	A	A	40	40	GPR137B	A	1	1
HNRNPU	3192	broad.mit.edu	37	1	245020153	245020153	+	Silent	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245020153T>A	uc001iaz.1	-	9	1838	c.1620A>T	c.(1618-1620)GCA>GCT	p.A540A	HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.A264A|HNRNPU_uc001iba.1_Silent_p.A521A|HNRNPU_uc001ibb.1_Silent_p.A228A	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U	540					CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding				0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)															---	---	---	---	capture		Silent	SNP	245020153	245020153	7565	1	T	A	A	55	55	HNRNPU	A	4	4
AHCTF1	25909	broad.mit.edu	37	1	247050612	247050612	+	Silent	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247050612T>C	uc001ibu.1	-	19	2380	c.2373A>G	c.(2371-2373)ACA>ACG	p.T791T	AHCTF1_uc001ibv.1_Silent_p.T800T|AHCTF1_uc009xgs.1_5'UTR	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	791	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---	capture		Silent	SNP	247050612	247050612	411	1	T	C	C	55	55	AHCTF1	C	4	4
OR2W5	441932	broad.mit.edu	37	1	247654714	247654714	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247654714C>T	uc001icz.1	+	1	285	c.285C>T	c.(283-285)CAC>CAT	p.H95H		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---	capture		Silent	SNP	247654714	247654714	11440	1	C	T	T	19	19	OR2W5	T	1	1
OR2G2	81470	broad.mit.edu	37	1	247752503	247752503	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247752503A>T	uc010pyy.1	+	1	842	c.842A>T	c.(841-843)TAC>TTC	p.Y281F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)															---	---	---	---	capture		Missense_Mutation	SNP	247752503	247752503	11404	1	A	T	T	14	14	OR2G2	T	4	4
OR2T10	127069	broad.mit.edu	37	1	248757048	248757048	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248757048G>T	uc010pzn.1	-	1	22	c.22C>A	c.(22-24)CTG>ATG	p.L8M		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T,	8	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture		Missense_Mutation	SNP	248757048	248757048	11423	1	G	T	T	35	35	OR2T10	T	2	2
WDR37	22884	broad.mit.edu	37	10	1149754	1149754	+	Silent	SNP	C	A	A	rs145990280	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1149754C>A	uc001igf.1	+	10	1112	c.939C>A	c.(937-939)TCC>TCA	p.S313S	WDR37_uc009xhm.1_Silent_p.S314S|WDR37_uc009xhn.1_RNA|WDR37_uc001igg.1_RNA	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	313	WD 3.										0		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)														---	---	---	---	capture		Silent	SNP	1149754	1149754	17864	10	C	A	A	23	23	WDR37	A	1	1
UPF2	26019	broad.mit.edu	37	10	12077311	12077311	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12077311T>A	uc001ila.2	-	1	586	c.112A>T	c.(112-114)AAA>TAA	p.K38*	UPF2_uc001ilb.2_Nonsense_Mutation_p.K38*|UPF2_uc001ilc.2_Nonsense_Mutation_p.K38*|UPF2_uc009xiz.1_Nonsense_Mutation_p.K38*	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	38	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)																---	---	---	---	capture		Nonsense_Mutation	SNP	12077311	12077311	17564	10	T	A	A	64	64	UPF2	A	5	4
ITGA8	8516	broad.mit.edu	37	10	15600177	15600177	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15600177G>A	uc001ioc.1	-	26	2662	c.2662C>T	c.(2662-2664)CCT>TCT	p.P888S	ITGA8_uc010qcb.1_Missense_Mutation_p.P873S	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	888	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6																		---	---	---	---	capture		Missense_Mutation	SNP	15600177	15600177	8186	10	G	A	A	43	43	ITGA8	A	2	2
CUBN	8029	broad.mit.edu	37	10	16873262	16873262	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16873262G>A	uc001ioo.2	-	65	10569	c.10517C>T	c.(10516-10518)TCA>TTA	p.S3506L		NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3506	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Missense_Mutation	SNP	16873262	16873262	4211	10	G	A	A	45	45	CUBN	A	2	2
GPR158	57512	broad.mit.edu	37	10	25886869	25886869	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25886869G>A	uc001isj.2	+	11	2374	c.2314G>A	c.(2314-2316)GAG>AAG	p.E772K	GPR158_uc001isk.2_Missense_Mutation_p.E147K	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	772	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	25886869	25886869	6938	10	G	A	A	33	33	GPR158	A	2	2
GAD2	2572	broad.mit.edu	37	10	26569943	26569943	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26569943A>T	uc001isp.2	+	12	1666	c.1163A>T	c.(1162-1164)AAC>ATC	p.N388I	GAD2_uc001isq.2_Missense_Mutation_p.N388I	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	388					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	26569943	26569943	6431	10	A	T	T	2	2	GAD2	T	4	4
APBB1IP	54518	broad.mit.edu	37	10	26830582	26830582	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26830582G>A	uc001iss.2	+	11	1437	c.1116G>A	c.(1114-1116)ATG>ATA	p.M372I	APBB1IP_uc009xks.1_Missense_Mutation_p.M372I	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	372	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	26830582	26830582	770	10	G	A	A	45	45	APBB1IP	A	2	2
KIAA1462	57608	broad.mit.edu	37	10	30318360	30318360	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30318360C>T	uc001iux.2	-	2	776	c.717G>A	c.(715-717)GAG>GAA	p.E239E	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.E101E|KIAA1462_uc009xle.1_Silent_p.E239E	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	239										ovary(4)	4																		---	---	---	---	capture		Silent	SNP	30318360	30318360	8543	10	C	T	T	32	32	KIAA1462	T	2	2
AGAP4	119016	broad.mit.edu	37	10	46321378	46321378	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46321378G>T	uc001jcx.3	-	7	2103	c.1977C>A	c.(1975-1977)CCC>CCA	p.P659P	AGAP4_uc010qfl.1_Silent_p.P682P|AGAP4_uc001jcy.3_Silent_p.P574P|uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	659	ANK 2.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	46321378	46321378	372	10	G	T	T	39	39	AGAP4	T	1	1
C10orf72	196740	broad.mit.edu	37	10	50285339	50285339	+	Missense_Mutation	SNP	C	A	A	rs45489505	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50285339C>A	uc001jhf.2	-	4	588	c.559G>T	c.(559-561)GTG>TTG	p.V187L		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	hypothetical protein LOC196740 isoform 1	187	Helical; (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	50285339	50285339	1652	10	C	A	A	19	19	C10orf72	A	1	1
CHAT	1103	broad.mit.edu	37	10	50824633	50824633	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50824633C>T	uc001jhz.2	+	2	525	c.372C>T	c.(370-372)CCC>CCT	p.P124P	CHAT_uc001jhv.1_Silent_p.P6P|CHAT_uc001jhx.1_Silent_p.P6P|CHAT_uc001jhy.1_Silent_p.P6P|CHAT_uc001jia.2_Silent_p.P6P|CHAT_uc010qgs.1_Silent_p.P6P	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	124					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)													---	---	---	---	capture		Silent	SNP	50824633	50824633	3447	10	C	T	T	21	21	CHAT	T	2	2
PCDH15	65217	broad.mit.edu	37	10	55569209	55569209	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55569209T>C	uc010qhs.1	-	37	5011	c.4616A>G	c.(4615-4617)GAG>GGG	p.E1539G	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.E1532G|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	55569209	55569209	11931	10	T	C	C	54	54	PCDH15	C	4	4
PCDH15	65217	broad.mit.edu	37	10	55569211	55569211	+	Silent	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55569211A>T	uc010qhs.1	-	37	5009	c.4614T>A	c.(4612-4614)GCT>GCA	p.A1538A	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.A1531A|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Silent	SNP	55569211	55569211	11931	10	A	T	T	7	7	PCDH15	T	4	4
ARID5B	84159	broad.mit.edu	37	10	63850892	63850892	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:63850892C>A	uc001jlt.1	+	10	1696	c.1670C>A	c.(1669-1671)CCT>CAT	p.P557H		NM_032199	NP_115575	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	557					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	Prostate(12;0.016)|all_hematologic(501;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	63850892	63850892	937	10	C	A	A	24	24	ARID5B	A	2	2
DDIT4	54541	broad.mit.edu	37	10	74034808	74034808	+	Silent	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74034808C>G	uc001jsx.1	+	3	763	c.561C>G	c.(559-561)CCC>CCG	p.P187P		NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	RTP801	187					apoptosis					pancreas(1)	1																OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	74034808	74034808	4502	10	C	G	G	21	21	DDIT4	G	3	3
CDHR1	92211	broad.mit.edu	37	10	85973009	85973009	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85973009G>T	uc001kcv.2	+	16	1945	c.1945G>T	c.(1945-1947)GAC>TAC	p.D649Y	CDHR1_uc001kcw.2_Missense_Mutation_p.D649Y|CDHR1_uc009xst.2_Missense_Mutation_p.D353Y|CDHR1_uc001kcx.2_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	protocadherin 21 precursor	649	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion		calcium ion binding|receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	85973009	85973009	3247	10	G	T	T	41	41	CDHR1	T	2	2
WAPAL	23063	broad.mit.edu	37	10	88260398	88260398	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88260398G>C	uc001kdo.2	-	3	1044	c.602C>G	c.(601-603)GCT>GGT	p.A201G	WAPAL_uc001kdn.2_Missense_Mutation_p.A244G|WAPAL_uc009xsw.2_Missense_Mutation_p.A201G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	201	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88260398	88260398	17820	10	G	C	C	34	34	WAPAL	C	3	3
LIPA	3988	broad.mit.edu	37	10	91005508	91005508	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91005508G>T	uc001kga.3	-	3	322	c.154C>A	c.(154-156)CTA>ATA	p.L52I	LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.L52I	NM_000235	NP_000226	P38571	LICH_HUMAN	lipase A precursor	52					lipid catabolic process	lysosome	lipase activity|sterol esterase activity				0		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)														---	---	---	---	capture		Missense_Mutation	SNP	91005508	91005508	9146	10	G	T	T	35	35	LIPA	T	2	2
LBX1	10660	broad.mit.edu	37	10	102987414	102987414	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102987414G>A	uc001ksx.2	-	2	604	c.459C>T	c.(457-459)GCC>GCT	p.A153A	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	153	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)														---	---	---	---	capture		Silent	SNP	102987414	102987414	8976	10	G	A	A	39	39	LBX1	A	1	1
SORCS3	22986	broad.mit.edu	37	10	106960916	106960916	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106960916G>A	uc001kyi.1	+	16	2393	c.2166G>A	c.(2164-2166)AAG>AAA	p.K722K	SORCS3_uc010qqz.1_RNA	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	722	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)														---	---	---	---	capture		Silent	SNP	106960916	106960916	15432	10	G	A	A	33	33	SORCS3	A	2	2
C10orf96	374355	broad.mit.edu	37	10	118084555	118084555	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118084555T>C	uc001lck.2	+	2	283	c.32T>C	c.(31-33)ATC>ACC	p.I11T		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	hypothetical protein LOC374355	11										ovary(2)	2		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)														---	---	---	---	capture		Missense_Mutation	SNP	118084555	118084555	1664	10	T	C	C	50	50	C10orf96	C	4	4
PNLIPRP3	119548	broad.mit.edu	37	10	118236315	118236315	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118236315G>T	uc001lcl.3	+	11	1425	c.1324G>T	c.(1324-1326)GGG>TGG	p.G442W		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor	442	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)														---	---	---	---	capture		Missense_Mutation	SNP	118236315	118236315	12578	10	G	T	T	47	47	PNLIPRP3	T	2	2
HSPA12A	259217	broad.mit.edu	37	10	118440730	118440730	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118440730G>A	uc001lct.2	-	9	1065	c.960C>T	c.(958-960)ACC>ACT	p.T320T	HSPA12A_uc001lcu.2_Silent_p.T237T	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	320							ATP binding			ovary(1)	1				all cancers(201;0.0158)														---	---	---	---	capture		Silent	SNP	118440730	118440730	7703	10	G	A	A	39	39	HSPA12A	A	1	1
RGS10	6001	broad.mit.edu	37	10	121285580	121285580	+	Silent	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121285580T>C	uc001lee.2	-	2	195	c.195A>G	c.(193-195)GCA>GCG	p.A65A	RGS10_uc001lef.2_Silent_p.A59A|RGS10_uc001leg.2_Silent_p.A73A	NM_002925	NP_002916	O43665	RGS10_HUMAN	regulator of G-protein signaling 10 isoform b	65	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity				0		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)														---	---	---	---	capture		Silent	SNP	121285580	121285580	13767	10	T	C	C	51	51	RGS10	C	4	4
PWWP2B	170394	broad.mit.edu	37	10	134219163	134219163	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134219163G>A	uc001lll.3	+	2	1188	c.1159G>A	c.(1159-1161)GAG>AAG	p.E387K	PWWP2B_uc009ybe.2_Missense_Mutation_p.E387K	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2 isoform 1	387											0		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)														---	---	---	---	capture		Missense_Mutation	SNP	134219163	134219163	13304	10	G	A	A	45	45	PWWP2B	A	2	2
NLRP6	171389	broad.mit.edu	37	11	278571	278571	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:278571T>C	uc010qvs.1	+	1	2	c.2T>C	c.(1-3)ATG>ACG	p.M1T	NLRP6_uc010qvt.1_Missense_Mutation_p.M1T	NM_138329	NP_612202	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	1	DAPIN.					cytoplasm	ATP binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)														---	---	---	---	capture		Missense_Mutation	SNP	278571	278571	10884	11	T	C	C	51	51	NLRP6	C	4	4
SIGIRR	59307	broad.mit.edu	37	11	408162	408162	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:408162C>T	uc001lpd.2	-	4	581	c.251G>A	c.(250-252)GGG>GAG	p.G84E	SIGIRR_uc001lpf.2_Missense_Mutation_p.G84E|SIGIRR_uc001lpe.1_Missense_Mutation_p.G84E|SIGIRR_uc001lpg.2_Missense_Mutation_p.G84E	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	84	Ig-like C2-type.|Extracellular (Potential).				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---	capture		Missense_Mutation	SNP	408162	408162	14799	11	C	T	T	22	22	SIGIRR	T	2	2
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	A	A	rs104894228		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:534286C>A	uc001lpv.2	-	2	225	c.37G>T	c.(37-39)GGT>TGT	p.G13C	HRAS_uc010qvw.1_Missense_Mutation_p.G13C|HRAS_uc010qvx.1_Missense_Mutation_p.G13C|HRAS_uc010qvy.1_RNA	NM_005343	NP_005334	P01112	RASH_HUMAN	v-Ha-ras Harvey rat sarcoma viral oncogene	13	GTP.		G -> D (in FCSS).|G -> C (in FCSS).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)		6	Mis		infrequent sarcomas|rare other types	rhadomyosarcoma|ganglioneuroblastoma|bladder			Costello_syndrome	HNSCC(11;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	534286	534286	7640	11	C	A	A	23	23	HRAS	A	1	1
KRTAP5-6	440023	broad.mit.edu	37	11	1718593	1718593	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1718593T>G	uc001lua.2	+	1	169	c.118T>G	c.(118-120)TGC>GGC	p.C40G		NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	40	3.|6 X 4 AA repeats of C-C-X-P.					keratin filament					0		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)														---	---	---	---	capture		Missense_Mutation	SNP	1718593	1718593	8887	11	T	G	G	55	55	KRTAP5-6	G	4	4
ART5	116969	broad.mit.edu	37	11	3660919	3660919	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3660919C>A	uc001lyb.1	-	2	1133	c.740G>T	c.(739-741)TGG>TTG	p.W247L	ART5_uc001lyc.1_Missense_Mutation_p.W247L|ART5_uc001lyd.2_Intron|ART5_uc009yea.2_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5 precursor	247						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	3660919	3660919	1018	11	C	A	A	21	21	ART5	A	2	2
OR52E8	390079	broad.mit.edu	37	11	5878375	5878375	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5878375C>A	uc010qzr.1	-	1	558	c.558G>T	c.(556-558)GAG>GAT	p.E186D	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5878375	5878375	11528	11	C	A	A	28	28	OR52E8	A	2	2
OR52E4	390081	broad.mit.edu	37	11	5905533	5905533	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5905533T>C	uc010qzs.1	+	1	11	c.11T>C	c.(10-12)ATC>ACC	p.I4T	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E,	4	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5905533	5905533	11526	11	T	C	C	50	50	OR52E4	C	4	4
OR52B2	255725	broad.mit.edu	37	11	6190722	6190722	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6190722C>A	uc010qzy.1	-	1	835	c.835G>T	c.(835-837)GCC>TCC	p.A279S		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B,	279	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6190722	6190722	11521	11	C	A	A	26	26	OR52B2	A	2	2
DCHS1	8642	broad.mit.edu	37	11	6655522	6655522	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6655522C>T	uc001mem.1	-	3	2223	c.1813G>A	c.(1813-1815)GCG>ACG	p.A605T		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	605	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6655522	6655522	4458	11	C	T	T	27	27	DCHS1	T	1	1
HTATIP2	10553	broad.mit.edu	37	11	20398241	20398241	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:20398241A>G	uc009yia.1	+	4	485	c.419A>G	c.(418-420)AAT>AGT	p.N140S	HTATIP2_uc009yib.1_Missense_Mutation_p.N140S|HTATIP2_uc001mpx.2_Missense_Mutation_p.N174S|HTATIP2_uc001mpz.2_Missense_Mutation_p.N140S	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	HIV-1 Tat interactive protein 2, 30kDa isoform	140					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	20398241	20398241	7732	11	A	G	G	4	4	HTATIP2	G	4	4
FNBP4	23360	broad.mit.edu	37	11	47772796	47772796	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47772796C>A	uc009ylv.2	-	5	837	c.684G>T	c.(682-684)ACG>ACT	p.T228T	FNBP4_uc001ngj.2_Silent_p.T135T|FNBP4_uc001ngl.2_RNA	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	228	WW 1.									ovary(1)	1																		---	---	---	---	capture		Silent	SNP	47772796	47772796	6209	11	C	A	A	23	23	FNBP4	A	1	1
OR4X2	119764	broad.mit.edu	37	11	48267476	48267476	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48267476T>C	uc001ngs.1	+	1	821	c.821T>C	c.(820-822)CTG>CCG	p.L274P		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X,	274	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	48267476	48267476	11495	11	T	C	C	55	55	OR4X2	C	4	4
OR4S1	256148	broad.mit.edu	37	11	48328071	48328071	+	Silent	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48328071C>G	uc010rhu.1	+	1	297	c.297C>G	c.(295-297)CTC>CTG	p.L99L		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S,	99	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	48328071	48328071	11492	11	C	G	G	32	32	OR4S1	G	3	3
OR4A15	81328	broad.mit.edu	37	11	55136005	55136005	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55136005G>T	uc010rif.1	+	1	646	c.646G>T	c.(646-648)GCT>TCT	p.A216S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	216	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	55136005	55136005	11446	11	G	T	T	46	46	OR4A15	T	2	2
OR5D18	219438	broad.mit.edu	37	11	55587663	55587663	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587663C>T	uc010rin.1	+	1	558	c.558C>T	c.(556-558)CTC>CTT	p.L186L		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	186	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---	capture		Silent	SNP	55587663	55587663	11567	11	C	T	T	32	32	OR5D18	T	2	2
SMTNL1	219537	broad.mit.edu	37	11	57308989	57308989	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57308989G>T	uc009ymh.1	+	1	11	c.11G>T	c.(10-12)GGG>GTG	p.G4V		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	227										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57308989	57308989	15315	11	G	T	T	43	43	SMTNL1	T	2	2
ZFP91	80829	broad.mit.edu	37	11	58384716	58384716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58384716G>A	uc001nmx.3	+	11	1418	c.1250G>A	c.(1249-1251)TGG>TAG	p.W417*	ZFP91_uc001nmy.3_Nonsense_Mutation_p.W416*|ZFP91-CNTF_uc010rkm.1_RNA	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	zinc finger protein 91	417	C2H2-type 4.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)																---	---	---	---	capture		Nonsense_Mutation	SNP	58384716	58384716	18244	11	G	A	A	47	47	ZFP91	A	5	2
OR5A1	219982	broad.mit.edu	37	11	59211431	59211431	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59211431C>T	uc001nnx.1	+	1	790	c.790C>T	c.(790-792)CGA>TGA	p.R264*		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	264	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	59211431	59211431	11549	11	C	T	T	27	27	OR5A1	T	5	1
GANAB	23193	broad.mit.edu	37	11	62402444	62402444	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62402444T>A	uc001nub.2	-	5	442	c.409A>T	c.(409-411)AGT>TGT	p.S137C	GANAB_uc001nua.2_Missense_Mutation_p.S137C|GANAB_uc001nuc.2_Missense_Mutation_p.S40C|GANAB_uc010rma.1_Missense_Mutation_p.S23C|GANAB_uc010rmb.1_Missense_Mutation_p.S23C	NM_198334	NP_938148	Q14697	GANAB_HUMAN	neutral alpha-glucosidase AB isoform 2	137					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	62402444	62402444	6497	11	T	A	A	55	55	GANAB	A	4	4
SLC22A12	116085	broad.mit.edu	37	11	64359261	64359261	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64359261C>A	uc001oam.1	+	1	980	c.233C>A	c.(232-234)CCG>CAG	p.P78Q	SLC22A12_uc009ypr.1_Missense_Mutation_p.P78Q|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.P78Q|SLC22A12_uc001oan.1_Missense_Mutation_p.P78Q|SLC22A12_uc009ypt.2_5'Flank	NM_144585	NP_653186	Q96S37	S22AC_HUMAN	urate anion exchanger 1 isoform a	78					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	64359261	64359261	14939	11	C	A	A	23	23	SLC22A12	A	1	1
TIGD3	220359	broad.mit.edu	37	11	65124394	65124394	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65124394C>A	uc001odo.3	+	2	1278	c.1115C>A	c.(1114-1116)CCG>CAG	p.P372Q		NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	372					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	65124394	65124394	16426	11	C	A	A	23	23	TIGD3	A	1	1
LTBP3	4054	broad.mit.edu	37	11	65307978	65307978	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65307978C>A	uc001oej.2	-	22	3354	c.3085G>T	c.(3085-3087)GGG>TGG	p.G1029W	LTBP3_uc001oef.2_Missense_Mutation_p.G32W|LTBP3_uc001oeg.2_Missense_Mutation_p.G32W|LTBP3_uc001oeh.2_Missense_Mutation_p.G459W|LTBP3_uc010roi.1_Missense_Mutation_p.G912W|LTBP3_uc001oei.2_Missense_Mutation_p.G1029W|LTBP3_uc010roj.1_Missense_Mutation_p.G730W|LTBP3_uc010rok.1_Missense_Mutation_p.G940W	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	1029	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3																OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	65307978	65307978	9451	11	C	A	A	23	23	LTBP3	A	1	1
EHBP1L1	254102	broad.mit.edu	37	11	65350240	65350240	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65350240G>T	uc001oeo.3	+	9	2362	c.2097G>T	c.(2095-2097)CTG>CTT	p.L699L	EHBP1L1_uc001oep.1_Intron	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	699	Glu-rich.									central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	65350240	65350240	5165	11	G	T	T	47	47	EHBP1L1	T	2	2
YIF1A	10897	broad.mit.edu	37	11	66055578	66055578	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66055578G>T	uc001ohk.3	-	2	399	c.217C>A	c.(217-219)CAT>AAT	p.H73N	YIF1A_uc001ohj.2_5'Flank|YIF1A_uc009yrc.2_Missense_Mutation_p.H73N	NM_020470	NP_065203	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog	73	Cytoplasmic (Potential).				protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	66055578	66055578	18058	11	G	T	T	47	47	YIF1A	T	2	2
KDM2A	22992	broad.mit.edu	37	11	66983395	66983395	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66983395G>T	uc001ojw.2	+	8	1526	c.662G>T	c.(661-663)TGG>TTG	p.W221L	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_5'UTR	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	221	JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	66983395	66983395	8430	11	G	T	T	47	47	KDM2A	T	2	2
TPCN2	219931	broad.mit.edu	37	11	68822731	68822731	+	Missense_Mutation	SNP	C	A	A	rs145775659		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68822731C>A	uc001oos.2	+	4	456	c.340C>A	c.(340-342)CGC>AGC	p.R114S	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Missense_Mutation_p.R114S	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	114	Extracellular (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Missense_Mutation	SNP	68822731	68822731	16940	11	C	A	A	23	23	TPCN2	A	1	1
MYEOV	26579	broad.mit.edu	37	11	69063118	69063118	+	Missense_Mutation	SNP	C	A	A	rs139486495		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:69063118C>A	uc001oov.2	+	3	651	c.201C>A	c.(199-201)TTC>TTA	p.F67L	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.F67L|MYEOV_uc001oow.2_Missense_Mutation_p.F9L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	67											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)														---	---	---	---	capture		Missense_Mutation	SNP	69063118	69063118	10420	11	C	A	A	31	31	MYEOV	A	1	1
CHCHD8	51287	broad.mit.edu	37	11	73584353	73584353	+	Missense_Mutation	SNP	G	T	T	rs35017327	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73584353G>T	uc001ouj.2	-	2	176	c.71C>A	c.(70-72)CCG>CAG	p.P24Q	CHCHD8_uc009ytw.2_RNA	NM_016565	NP_057649	Q9NYJ1	CHCH8_HUMAN	coiled-coil-helix-coiled-coil-helix domain	24											0	Breast(11;7.42e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	73584353	73584353	3456	11	G	T	T	39	39	CHCHD8	T	1	1
C2CD3	26005	broad.mit.edu	37	11	73803511	73803511	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73803511G>T	uc001ouu.2	-	19	3694	c.3467C>A	c.(3466-3468)CCT>CAT	p.P1156H		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1156						centrosome				ovary(4)|pancreas(2)|skin(1)	7	Breast(11;4.16e-06)																	---	---	---	---	capture		Missense_Mutation	SNP	73803511	73803511	2237	11	G	T	T	35	35	C2CD3	T	2	2
PGM2L1	283209	broad.mit.edu	37	11	74062614	74062614	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74062614C>T	uc001ovb.1	-	6	859	c.563G>A	c.(562-564)TGG>TAG	p.W188*		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	188					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)																	---	---	---	---	capture		Nonsense_Mutation	SNP	74062614	74062614	12222	11	C	T	T	21	21	PGM2L1	T	5	2
ODZ4	26011	broad.mit.edu	37	11	78380545	78380545	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:78380545T>A	uc001ozl.3	-	32	7308	c.6845A>T	c.(6844-6846)AAC>ATC	p.N2282I	ODZ4_uc001ozk.3_Missense_Mutation_p.N507I|ODZ4_uc009yvb.1_Missense_Mutation_p.N866I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2282	Extracellular (Potential).|YD 21.				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	78380545	78380545	11242	11	T	A	A	60	60	ODZ4	A	4	4
SYTL2	54843	broad.mit.edu	37	11	85415985	85415985	+	Silent	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85415985T>C	uc010rth.1	-	14	2466	c.2190A>G	c.(2188-2190)CTA>CTG	p.L730L	SYTL2_uc010rtg.1_Silent_p.L731L|SYTL2_uc010rti.1_Silent_p.L706L|SYTL2_uc010rtj.1_Silent_p.L698L|SYTL2_uc001pav.2_Silent_p.L172L|SYTL2_uc010rte.1_Silent_p.L132L|SYTL2_uc001pax.2_Silent_p.L172L|SYTL2_uc001paz.2_Silent_p.L51L|SYTL2_uc001pba.2_Silent_p.L115L|SYTL2_uc001pay.2_Silent_p.L161L|SYTL2_uc001paw.2_Silent_p.L132L|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.L1028L|SYTL2_uc001pbb.2_Silent_p.L1068L|SYTL2_uc001pbc.2_Silent_p.L1052L|SYTL2_uc010rtf.1_Silent_p.L548L	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2 isoform g	730	C2 1.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			ovary(2)|large_intestine(1)	3		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)														---	---	---	---	capture		Silent	SNP	85415985	85415985	16004	11	T	C	C	53	53	SYTL2	C	4	4
PICALM	8301	broad.mit.edu	37	11	85701428	85701428	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85701428T>C	uc001pbm.2	-	13	1559	c.1273A>G	c.(1273-1275)ACT>GCT	p.T425A	PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Intron|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Missense_Mutation_p.T57A	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	425					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)						T	MLLT10|MLL	TALL|AML|								---	---	---	---	capture		Missense_Mutation	SNP	85701428	85701428	12304	11	T	C	C	57	57	PICALM	C	4	4
EED	8726	broad.mit.edu	37	11	85988171	85988171	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85988171C>A	uc001pbp.2	+	10	1573	c.1116C>A	c.(1114-1116)TTC>TTA	p.F372L	EED_uc010rtm.1_Missense_Mutation_p.F372L|EED_uc001pbq.2_Missense_Mutation_p.F372L|EED_uc001pbr.2_Missense_Mutation_p.F397L|EED_uc001pbs.2_Missense_Mutation_p.F292L|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	372	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 6.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)																---	---	---	---	capture		Missense_Mutation	SNP	85988171	85988171	5109	11	C	A	A	32	32	EED	A	2	2
NAALAD2	10003	broad.mit.edu	37	11	89911209	89911209	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89911209G>A	uc001pdf.3	+	16	1891	c.1782G>A	c.(1780-1782)TTG>TTA	p.L594L	NAALAD2_uc009yvx.2_Silent_p.L561L|NAALAD2_uc009yvy.2_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	594	Extracellular (Potential).				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---	capture		Silent	SNP	89911209	89911209	10523	11	G	A	A	45	45	NAALAD2	A	2	2
ANGPTL5	253935	broad.mit.edu	37	11	101762074	101762074	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101762074G>T	uc001pgl.2	-	9	1699	c.1103C>A	c.(1102-1104)TCA>TAA	p.S368*		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5 precursor	368	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			ovary(1)	1		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)														---	---	---	---	capture		Nonsense_Mutation	SNP	101762074	101762074	620	11	G	T	T	45	45	ANGPTL5	T	5	2
EXPH5	23086	broad.mit.edu	37	11	108384542	108384542	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108384542C>A	uc001pkk.2	-	6	1803	c.1692G>T	c.(1690-1692)GTG>GTT	p.V564V	EXPH5_uc010rvy.1_Silent_p.V376V|EXPH5_uc010rvz.1_Silent_p.V408V|EXPH5_uc010rwa.1_Silent_p.V488V	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	564					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)														---	---	---	---	capture		Silent	SNP	108384542	108384542	5516	11	C	A	A	21	21	EXPH5	A	2	2
EXPH5	23086	broad.mit.edu	37	11	108385037	108385037	+	Silent	SNP	G	T	T	rs35457694	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108385037G>T	uc001pkk.2	-	6	1308	c.1197C>A	c.(1195-1197)CCC>CCA	p.P399P	EXPH5_uc010rvy.1_Silent_p.P211P|EXPH5_uc010rvz.1_Silent_p.P243P|EXPH5_uc010rwa.1_Silent_p.P323P	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	399					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)														---	---	---	---	capture		Silent	SNP	108385037	108385037	5516	11	G	T	T	39	39	EXPH5	T	1	1
DSCAML1	57453	broad.mit.edu	37	11	117351887	117351887	+	Splice_Site	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117351887A>T	uc001prh.1	-	13	2838	c.2836_splice	c.e13+1	p.E946_splice		NM_020693	NP_065744			Down syndrome cell adhesion molecule like 1						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		Splice_Site	SNP	117351887	117351887	4953	11	A	T	T	14	14	DSCAML1	T	5	4
MLL	4297	broad.mit.edu	37	11	118376301	118376301	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118376301C>A	uc001pta.2	+	27	9708	c.9685C>A	c.(9685-9687)CGA>AGA	p.R3229R	MLL_uc001ptb.2_Silent_p.R3232R	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	3229					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---	capture		Silent	SNP	118376301	118376301	10010	11	C	A	A	23	23	MLL	A	1	1
IFT46	56912	broad.mit.edu	37	11	118425222	118425222	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118425222C>A	uc001ptp.1	-	7	813	c.435G>T	c.(433-435)ACG>ACT	p.T145T	IFT46_uc001pto.1_Silent_p.T196T|IFT46_uc009zaf.1_Silent_p.T196T	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	IFT46	145					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0																		---	---	---	---	capture		Silent	SNP	118425222	118425222	7861	11	C	A	A	23	23	IFT46	A	1	1
OR10G9	219870	broad.mit.edu	37	11	123894560	123894560	+	Missense_Mutation	SNP	C	A	A	rs12790359		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123894560C>A	uc010sad.1	+	1	841	c.841C>A	c.(841-843)CTT>ATT	p.L281I		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	281	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		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		Missense_Mutation	SNP	123894560	123894560	11310	11	C	A	A	24	24	OR10G9	A	2	2
KCNJ1	3758	broad.mit.edu	37	11	128709173	128709173	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128709173G>T	uc001qeo.1	-	2	1074	c.1023C>A	c.(1021-1023)TTC>TTA	p.F341L	KCNJ1_uc001qep.1_Missense_Mutation_p.F322L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F322L|KCNJ1_uc001qer.1_Missense_Mutation_p.F322L|KCNJ1_uc001qes.1_Missense_Mutation_p.F322L	NM_000220	NP_000211	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel J1 isoform	341	Cytoplasmic (By similarity).				excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			ovary(3)|breast(1)	4	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)													---	---	---	---	capture		Missense_Mutation	SNP	128709173	128709173	8348	11	G	T	T	41	41	KCNJ1	T	2	2
ST14	6768	broad.mit.edu	37	11	130066549	130066549	+	Silent	SNP	C	A	A	rs144203489	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130066549C>A	uc001qfw.2	+	11	1501	c.1308C>A	c.(1306-1308)ACC>ACA	p.T436T	ST14_uc010sca.1_Silent_p.T246T	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	matriptase	436	CUB 2.|Extracellular (Potential).				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			ovary(2)|skin(2)|central_nervous_system(1)	5	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)													---	---	---	---	capture		Silent	SNP	130066549	130066549	15729	11	C	A	A	23	23	ST14	A	1	1
NTM	50863	broad.mit.edu	37	11	132016281	132016281	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132016281G>T	uc001qgp.2	+	2	937	c.273G>T	c.(271-273)CTG>CTT	p.L91L	NTM_uc001qgm.2_Silent_p.L91L|NTM_uc010sch.1_Silent_p.L82L|NTM_uc010sci.1_Silent_p.L91L|NTM_uc010scj.1_Silent_p.L50L|NTM_uc001qgo.2_Silent_p.L91L|NTM_uc001qgq.2_Silent_p.L91L	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	91	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Silent	SNP	132016281	132016281	11104	11	G	T	T	45	45	NTM	T	2	2
NTM	50863	broad.mit.edu	37	11	132180054	132180054	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:132180054A>C	uc001qgp.2	+	5	1374	c.710A>C	c.(709-711)CAA>CCA	p.Q237P	NTM_uc001qgm.2_Missense_Mutation_p.Q237P|NTM_uc010sch.1_Missense_Mutation_p.Q228P|NTM_uc010sci.1_Missense_Mutation_p.Q237P|NTM_uc010scj.1_Missense_Mutation_p.Q196P|NTM_uc001qgo.2_Missense_Mutation_p.Q237P|NTM_uc001qgq.2_Missense_Mutation_p.Q237P|NTM_uc001qgr.2_5'UTR	NM_016522	NP_057606	Q9P121	NTRI_HUMAN	neurotrimin isoform 1	237	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	132180054	132180054	11104	11	A	C	C	5	5	NTM	C	4	4
B3GAT1	27087	broad.mit.edu	37	11	134253897	134253897	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134253897C>T	uc001qhq.2	-	4	559	c.298G>A	c.(298-300)GCC>ACC	p.A100T	B3GAT1_uc001qhr.2_Missense_Mutation_p.A100T|B3GAT1_uc010scv.1_Missense_Mutation_p.A113T	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	100	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)														---	---	---	---	capture		Missense_Mutation	SNP	134253897	134253897	1274	11	C	T	T	26	26	B3GAT1	T	2	2
B4GALNT3	283358	broad.mit.edu	37	12	665894	665894	+	Silent	SNP	C	A	A	rs113571884		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:665894C>A	uc001qii.1	+	15	2242	c.2242C>A	c.(2242-2244)CGG>AGG	p.R748R	B4GALNT3_uc001qik.1_Silent_p.R297R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	beta	748	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			ovary(1)|skin(1)	2	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)															---	---	---	---	capture		Silent	SNP	665894	665894	1289	12	C	A	A	23	23	B4GALNT3	A	1	1
TULP3	7289	broad.mit.edu	37	12	3048522	3048522	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3048522T>A	uc010seh.1	+	11	1322	c.1241T>A	c.(1240-1242)TTC>TAC	p.F414Y	TULP3_uc009zec.1_Missense_Mutation_p.F141Y|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.F414Y|TULP3_uc010sei.1_Missense_Mutation_p.F238Y	NM_003324	NP_003315	O75386	TULP3_HUMAN	tubby like protein 3 isoform 1	414					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)															---	---	---	---	capture		Missense_Mutation	SNP	3048522	3048522	17330	12	T	A	A	62	62	TULP3	A	4	4
NCAPD2	9918	broad.mit.edu	37	12	6640161	6640161	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6640161C>A	uc001qoo.2	+	31	4085	c.4039C>A	c.(4039-4041)CGT>AGT	p.R1347S	NCAPD2_uc010sfd.1_Missense_Mutation_p.R1302S	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1347	Bipartite nuclear localization signal.			RRTTRR->AATTAA: Abolishes localization to the nucleus, while it only reduces chromosome binding.	cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	6640161	6640161	10604	12	C	A	A	23	23	NCAPD2	A	1	1
CHD4	1108	broad.mit.edu	37	12	6696922	6696922	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6696922T>C	uc001qpo.2	-	24	3823	c.3659A>G	c.(3658-3660)AAA>AGA	p.K1220R	CHD4_uc001qpn.2_Missense_Mutation_p.K1213R|CHD4_uc001qpp.2_Missense_Mutation_p.K1217R	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1220					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	6696922	6696922	3461	12	T	C	C	64	64	CHD4	C	4	4
CLEC1A	51267	broad.mit.edu	37	12	10224077	10224077	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10224077C>T	uc001qxb.2	-	6	782	c.698G>A	c.(697-699)AGC>AAC	p.S233N	CLEC1A_uc009zhf.2_Missense_Mutation_p.S145N|CLEC1A_uc001qxc.2_Missense_Mutation_p.S145N|CLEC1A_uc001qxd.2_Missense_Mutation_p.S190N|CLEC1A_uc010sgx.1_Missense_Mutation_p.S131N	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	C-type lectin-like receptor-1	233	C-type lectin.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	10224077	10224077	3642	12	C	T	T	28	28	CLEC1A	T	2	2
PRB2	653247	broad.mit.edu	37	12	11546665	11546665	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11546665C>G	uc010shk.1	-	3	382	c.347G>C	c.(346-348)GGA>GCA	p.G116A		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)															---	---	---	---	capture		Missense_Mutation	SNP	11546665	11546665	12885	12	C	G	G	30	30	PRB2	G	3	3
GPRC5A	9052	broad.mit.edu	37	12	13061863	13061863	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13061863G>T	uc001rba.2	+	2	1330	c.680G>T	c.(679-681)TGG>TTG	p.W227L	GPRC5A_uc001raz.2_Missense_Mutation_p.W227L	NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5,	227	Helical; Name=6; (Potential).					cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity				0		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)													---	---	---	---	capture		Missense_Mutation	SNP	13061863	13061863	7000	12	G	T	T	47	47	GPRC5A	T	2	2
GRIN2B	2904	broad.mit.edu	37	12	13724888	13724888	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13724888G>C	uc001rbt.2	-	10	2200	c.2021C>G	c.(2020-2022)CCT>CGT	p.P674R		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	674	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Missense_Mutation	SNP	13724888	13724888	7059	12	G	C	C	35	35	GRIN2B	C	3	3
SLCO1B3	28234	broad.mit.edu	37	12	21229461	21229461	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21229461G>T	uc010sil.1	+	15	2071	c.2006G>T	c.(2005-2007)GGA>GTA	p.G669V	LST-3TM12_uc010sim.1_Missense_Mutation_p.G608V|LST-3TM12_uc010sin.1_Missense_Mutation_p.G561V			Q9NPD5	SO1B3_HUMAN	SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			large_intestine(2)|ovary(1)|skin(1)	4	Esophageal squamous(101;0.149)																	---	---	---	---	capture		Missense_Mutation	SNP	21229461	21229461	15221	12	G	T	T	41	41	SLCO1B3	T	2	2
GYS2	2998	broad.mit.edu	37	12	21712602	21712602	+	Silent	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21712602G>C	uc001rfb.2	-	9	1467	c.1212C>G	c.(1210-1212)CTC>CTG	p.L404L		NM_021957	NP_068776	P54840	GYS2_HUMAN	glycogen synthase 2	404					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			lung(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	21712602	21712602	7193	12	G	C	C	33	33	GYS2	C	3	3
PPFIBP1	8496	broad.mit.edu	37	12	27832534	27832534	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27832534C>A	uc001ric.1	+	19	2123	c.1746C>A	c.(1744-1746)TCC>TCA	p.S582S	PPFIBP1_uc010sjr.1_Silent_p.S413S|PPFIBP1_uc001rib.1_Silent_p.S576S|PPFIBP1_uc001ria.2_Silent_p.S551S|PPFIBP1_uc001rid.1_Silent_p.S429S|PPFIBP1_uc001rif.1_Silent_p.S89S	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN	PTPRF interacting protein binding protein 1	582					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	soft_tissue(3)|kidney(1)|skin(1)	5	Lung SC(9;0.0873)																	---	---	---	---	capture		Silent	SNP	27832534	27832534	12743	12	C	A	A	21	21	PPFIBP1	A	2	2
IPO8	10526	broad.mit.edu	37	12	30784844	30784844	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30784844G>T	uc001rjd.2	-	24	3171	c.3001C>A	c.(3001-3003)CGA>AGA	p.R1001R	IPO8_uc001rje.1_Silent_p.R490R|IPO8_uc010sjt.1_Silent_p.R796R	NM_006390	NP_006381	O15397	IPO8_HUMAN	importin 8	1001					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			skin(2)|central_nervous_system(1)	3	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)																	---	---	---	---	capture		Silent	SNP	30784844	30784844	8099	12	G	T	T	39	39	IPO8	T	1	1
MLL2	8085	broad.mit.edu	37	12	49420600	49420600	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49420600A>C	uc001rta.3	-	48	15149	c.15149T>G	c.(15148-15150)CTG>CGG	p.L5050R		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	5050					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		Missense_Mutation	SNP	49420600	49420600	10011	12	A	C	C	7	7	MLL2	C	4	4
PCBP2	5094	broad.mit.edu	37	12	53853101	53853101	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53853101C>A	uc001sdl.3	+	6	639	c.289C>A	c.(289-291)CCG>ACG	p.P97T	PCBP2_uc001sdc.3_Missense_Mutation_p.P97T|PCBP2_uc001sdb.3_Missense_Mutation_p.P97T|PCBP2_uc001sde.3_Missense_Mutation_p.P97T|PCBP2_uc001sdi.3_Missense_Mutation_p.P97T|PCBP2_uc001sdd.3_Missense_Mutation_p.P97T|PCBP2_uc001sdf.3_Missense_Mutation_p.P97T|PCBP2_uc009zna.2_Missense_Mutation_p.P58T|PCBP2_uc010soh.1_Missense_Mutation_p.P97T|PCBP2_uc009zmz.1_Missense_Mutation_p.P39T|PCBP2_uc001sdg.1_RNA	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2 isoform d	97	KH 2.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	53853101	53853101	11921	12	C	A	A	22	22	PCBP2	A	2	2
ITGA5	3678	broad.mit.edu	37	12	54794636	54794636	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54794636G>A	uc001sga.2	-	25	2705	c.2637C>T	c.(2635-2637)GGC>GGT	p.G879G		NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	879	Extracellular (Potential).				angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	54794636	54794636	8183	12	G	A	A	42	42	ITGA5	A	2	2
GLI1	2735	broad.mit.edu	37	12	57858529	57858529	+	Silent	SNP	G	T	T	rs139988338		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57858529G>T	uc001snx.2	+	4	345	c.267G>T	c.(265-267)TCG>TCT	p.S89S	GLI1_uc009zpp.2_RNA|GLI1_uc009zpq.2_5'UTR|GLI1_uc009zpr.1_RNA	NM_005269	NP_005260	P08151	GLI1_HUMAN	GLI family zinc finger 1 isoform 1	89					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15			GBM - Glioblastoma multiforme(3;3.99e-32)															---	---	---	---	capture		Silent	SNP	57858529	57858529	6705	12	G	T	T	39	39	GLI1	T	1	1
AGAP2	116986	broad.mit.edu	37	12	58135800	58135800	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58135800G>T	uc001spr.2	-	1	141	c.55C>A	c.(55-57)CAT>AAT	p.H19N	TSPAN31_uc001spt.2_5'Flank|TSPAN31_uc009zqb.2_5'Flank	NM_014770	NP_055585	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-S	Error:Variant_position_missing_in_Q99490_after_alignment					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	58135800	58135800	370	12	G	T	T	48	48	AGAP2	T	2	2
LEMD3	23592	broad.mit.edu	37	12	65633948	65633948	+	Nonsense_Mutation	SNP	G	T	T	rs147072982	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65633948G>T	uc001ssl.1	+	8	2062	c.2056G>T	c.(2056-2058)GAA>TAA	p.E686*	LEMD3_uc009zqo.1_Nonsense_Mutation_p.E685*	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	686					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			central_nervous_system(3)|ovary(1)	4			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)														---	---	---	---	capture		Nonsense_Mutation	SNP	65633948	65633948	9045	12	G	T	T	41	41	LEMD3	T	5	2
HELB	92797	broad.mit.edu	37	12	66700214	66700214	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66700214A>T	uc001sti.2	+	3	725	c.697A>T	c.(697-699)ATA>TTA	p.I233L	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	233					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)														---	---	---	---	capture		Missense_Mutation	SNP	66700214	66700214	7328	12	A	T	T	8	8	HELB	T	4	4
CCT2	10576	broad.mit.edu	37	12	69983307	69983307	+	Silent	SNP	G	T	T	rs138151014		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69983307G>T	uc001svb.1	+	7	583	c.489G>T	c.(487-489)GCG>GCT	p.A163A	CCT2_uc009zrm.1_RNA|CCT2_uc009zrn.1_Silent_p.A163A|CCT2_uc010stl.1_Silent_p.A116A	NM_006431	NP_006422	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2	163					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)															---	---	---	---	capture		Silent	SNP	69983307	69983307	3080	12	G	T	T	39	39	CCT2	T	1	1
PPFIA2	8499	broad.mit.edu	37	12	81769626	81769626	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81769626C>T	uc001szo.1	-	10	1241	c.1080G>A	c.(1078-1080)ATG>ATA	p.M360I	PPFIA2_uc010sue.1_Missense_Mutation_p.M260I|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	286										ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	81769626	81769626	12740	12	C	T	T	29	29	PPFIA2	T	2	2
RASSF9	9182	broad.mit.edu	37	12	86199616	86199616	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:86199616C>T	uc001taf.1	-	2	511	c.172G>A	c.(172-174)GAG>AAG	p.E58K		NM_005447	NP_005438	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family	58	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	86199616	86199616	13554	12	C	T	T	29	29	RASSF9	T	2	2
MYO1H	283446	broad.mit.edu	37	12	109849790	109849790	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109849790C>T	uc010sxn.1	+	13	1454	c.1454C>T	c.(1453-1455)ACC>ATC	p.T485I		NM_001101421	NP_001094891	Q8N1T3	MYO1H_HUMAN	myosin 1H	Error:Variant_position_missing_in_B4DNW6_after_alignment						myosin complex	motor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	109849790	109849790	10470	12	C	T	T	19	19	MYO1H	T	1	1
ACADS	35	broad.mit.edu	37	12	121164887	121164887	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121164887C>A	uc001tza.3	+	2	223	c.105C>A	c.(103-105)CCC>CCA	p.P35P	ACADS_uc010szl.1_Silent_p.P35P	NM_000017	NP_000008	P16219	ACADS_HUMAN	short-chain acyl-CoA dehydrogenase precursor	35						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(2)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)													---	---	---	---	capture		Silent	SNP	121164887	121164887	115	12	C	A	A	23	23	ACADS	A	1	1
KDM2B	84678	broad.mit.edu	37	12	121947434	121947434	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121947434G>T	uc001uat.2	-	11	1687	c.1583C>A	c.(1582-1584)CCG>CAG	p.P528Q	KDM2B_uc001uar.2_Missense_Mutation_p.P119Q|KDM2B_uc001uas.2_Missense_Mutation_p.P497Q|KDM2B_uc001uau.2_Missense_Mutation_p.P411Q|KDM2B_uc001uav.3_Missense_Mutation_p.P438Q	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	F-box and leucine-rich repeat protein 10 isoform	528					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	121947434	121947434	8431	12	G	T	T	39	39	KDM2B	T	1	1
DNAH10	196385	broad.mit.edu	37	12	124401007	124401007	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124401007G>A	uc001uft.3	+	62	10397	c.10372G>A	c.(10372-10374)GCT>ACT	p.A3458T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3458	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---	capture		Missense_Mutation	SNP	124401007	124401007	4780	12	G	A	A	38	38	DNAH10	A	1	1
ANKLE2	23141	broad.mit.edu	37	12	133327335	133327335	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133327335C>G	uc001ukx.2	-	3	808	c.741G>C	c.(739-741)GAG>GAC	p.E247D	ANKLE2_uc001uky.3_Missense_Mutation_p.E185D	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	247						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---	capture		Missense_Mutation	SNP	133327335	133327335	636	12	C	G	G	32	32	ANKLE2	G	3	3
POSTN	10631	broad.mit.edu	37	13	38154048	38154048	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38154048G>T	uc001uwo.3	-	12	1728	c.1610C>A	c.(1609-1611)ACC>AAC	p.T537N	POSTN_uc010tet.1_Missense_Mutation_p.T65N|POSTN_uc001uwp.3_Missense_Mutation_p.T537N|POSTN_uc001uwr.2_Missense_Mutation_p.T537N|POSTN_uc001uwq.2_Missense_Mutation_p.T537N|POSTN_uc010teu.1_Missense_Mutation_p.T537N|POSTN_uc010tev.1_Missense_Mutation_p.T537N|POSTN_uc010tew.1_Missense_Mutation_p.T537N|POSTN_uc010tex.1_Missense_Mutation_p.T452N	NM_006475	NP_006466	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor isoform 1	537	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)														---	---	---	---	capture		Missense_Mutation	SNP	38154048	38154048	12688	13	G	T	T	44	44	POSTN	T	2	2
TRPC4	7223	broad.mit.edu	37	13	38357173	38357173	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38357173G>T	uc001uws.2	-	2	533	c.298C>A	c.(298-300)CTA>ATA	p.L100I	TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L100I|TRPC4_uc010tey.1_Missense_Mutation_p.L100I|TRPC4_uc010abw.2_Missense_Mutation_p.L100I|TRPC4_uc010abx.2_Missense_Mutation_p.L100I|TRPC4_uc010aby.2_Missense_Mutation_p.L100I	NM_016179	NP_057263	Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel,	100	ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			ovary(3)|skin(2)|breast(1)	6				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)														---	---	---	---	capture		Missense_Mutation	SNP	38357173	38357173	17131	13	G	T	T	33	33	TRPC4	T	2	2
LHFP	10186	broad.mit.edu	37	13	40175003	40175003	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40175003C>A	uc001uxf.2	-	2	862	c.351G>T	c.(349-351)GTG>GTT	p.V117V		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner precursor	117						integral to membrane	DNA binding		HMGA2/LHFP(2)	soft_tissue(2)|lung(1)|breast(1)	4		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)				T	HMGA2	lipoma								---	---	---	---	capture		Silent	SNP	40175003	40175003	9089	13	C	A	A	21	21	LHFP	A	2	2
PCDH8	5100	broad.mit.edu	37	13	53419706	53419706	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53419706C>G	uc001vhi.2	-	2	2896	c.2693G>C	c.(2692-2694)GGA>GCA	p.G898A	PCDH8_uc001vhj.2_Missense_Mutation_p.G801A	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	898	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)														---	---	---	---	capture		Missense_Mutation	SNP	53419706	53419706	11937	13	C	G	G	30	30	PCDH8	G	3	3
DIAPH3	81624	broad.mit.edu	37	13	60590048	60590048	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60590048T>A	uc001vht.2	-	7	989	c.770A>T	c.(769-771)CAG>CTG	p.Q257L	DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.Q246L|DIAPH3_uc010aed.1_Missense_Mutation_p.Q211L|DIAPH3_uc010aee.1_Missense_Mutation_p.Q187L|uc001vhx.2_Intron|uc001vhy.2_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	257	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---	capture		Missense_Mutation	SNP	60590048	60590048	4699	13	T	A	A	55	55	DIAPH3	A	4	4
UCHL3	7347	broad.mit.edu	37	13	76179926	76179926	+	Missense_Mutation	SNP	C	T	T	rs139878255		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:76179926C>T	uc001vjq.2	+	9	701	c.671C>T	c.(670-672)GCG>GTG	p.A224V	UCHL3_uc001vjr.2_Missense_Mutation_p.A188V	NM_006002	NP_005993	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3	224	Interaction with ubiquitin.				ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity				0				GBM - Glioblastoma multiforme(99;0.0125)														---	---	---	---	capture		Missense_Mutation	SNP	76179926	76179926	17479	13	C	T	T	27	27	UCHL3	T	1	1
ABCC4	10257	broad.mit.edu	37	13	95726534	95726534	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:95726534G>T	uc001vmd.3	-	23	2970	c.2851C>A	c.(2851-2853)CGT>AGT	p.R951S	ABCC4_uc010afk.2_Missense_Mutation_p.R904S	NM_005845	NP_005836	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C, member 4	951	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			central_nervous_system(3)|skin(1)	4	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)													---	---	---	---	capture		Missense_Mutation	SNP	95726534	95726534	56	13	G	T	T	39	39	ABCC4	T	1	1
FAM155A	728215	broad.mit.edu	37	13	107822900	107822900	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:107822900C>T	uc001vql.2	-	3	1838	c.1322G>A	c.(1321-1323)GGA>GAA	p.G441E		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	441						integral to membrane	binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	107822900	107822900	5663	13	C	T	T	30	30	FAM155A	T	2	2
MYO16	23026	broad.mit.edu	37	13	109704819	109704819	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:109704819G>T	uc001vqt.1	+	25	3104	c.2978G>T	c.(2977-2979)AGT>ATT	p.S993I	MYO16_uc010agk.1_Missense_Mutation_p.S1015I|MYO16_uc001vqu.1_Missense_Mutation_p.S793I|MYO16_uc010tjh.1_Missense_Mutation_p.S505I	NM_015011	NP_055826	Q9Y6X6	MYO16_HUMAN	myosin heavy chain Myr 8	993	Myosin head-like 2.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1)	10	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)															---	---	---	---	capture		Missense_Mutation	SNP	109704819	109704819	10459	13	G	T	T	36	36	MYO16	T	2	2
CARKD	55739	broad.mit.edu	37	13	111290867	111290867	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111290867G>C	uc001vrb.2	+	10	1050	c.1036G>C	c.(1036-1038)GAA>CAA	p.E346Q	CARKD_uc010tjj.1_Missense_Mutation_p.E328Q|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.E236Q|CARKD_uc010tjl.1_Missense_Mutation_p.E215Q|CARKD_uc001vrc.2_Nonstop_Mutation_p.*391S			Q8IW45	CARKD_HUMAN	RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor;	346										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	111290867	111290867	2773	13	G	C	C	45	45	CARKD	C	3	3
ZNF828	283489	broad.mit.edu	37	13	115091162	115091162	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115091162C>A	uc010ahb.2	+	3	2174	c.1845C>A	c.(1843-1845)TCC>TCA	p.S615S	ZNF828_uc001vuv.2_Silent_p.S615S|ZNF828_uc010tko.1_Silent_p.S615S	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	615	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)														---	---	---	---	capture		Silent	SNP	115091162	115091162	18780	13	C	A	A	24	24	ZNF828	A	2	2
OR4Q3	441669	broad.mit.edu	37	14	20216261	20216261	+	Silent	SNP	C	A	A	rs140842827	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20216261C>A	uc010tkt.1	+	1	675	c.675C>A	c.(673-675)ACC>ACA	p.T225T		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	225	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Silent	SNP	20216261	20216261	11491	14	C	A	A	22	22	OR4Q3	A	2	2
METT11D1	64745	broad.mit.edu	37	14	21464794	21464794	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21464794C>T	uc001vyn.2	+	13	1386	c.1189C>T	c.(1189-1191)CGC>TGC	p.R397C	METT11D1_uc001vym.2_Missense_Mutation_p.R397C|METT11D1_uc001vyo.2_Missense_Mutation_p.R397C|METT11D1_uc001vyp.2_Missense_Mutation_p.R239C|METT11D1_uc001vyq.2_Missense_Mutation_p.R239C|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank	NM_022734	NP_073571	Q9H7H0	MET17_HUMAN	methyltransferase 11 domain containing 1 isoform	397					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)														---	---	---	---	capture		Missense_Mutation	SNP	21464794	21464794	9880	14	C	T	T	31	31	METT11D1	T	1	1
LRP10	26020	broad.mit.edu	37	14	23345565	23345565	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23345565C>G	uc001whd.2	+	5	1961	c.1408C>G	c.(1408-1410)CGC>GGC	p.R470G	LRP10_uc001whe.2_Missense_Mutation_p.R346G	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	470	Cytoplasmic (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)														---	---	---	---	capture		Missense_Mutation	SNP	23345565	23345565	9325	14	C	G	G	31	31	LRP10	G	3	3
TM9SF1	10548	broad.mit.edu	37	14	24659659	24659659	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24659659G>T	uc001wnb.1	-	5	1702	c.1354C>A	c.(1354-1356)CGG>AGG	p.R452R	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc001wmz.1_5'UTR|TM9SF1_uc010toa.1_Silent_p.R365R|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Silent_p.R687R|TM9SF1_uc001wnc.2_Silent_p.R452R	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	452					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)														---	---	---	---	capture		Silent	SNP	24659659	24659659	16507	14	G	T	T	39	39	TM9SF1	T	1	1
ADCY4	196883	broad.mit.edu	37	14	24787968	24787968	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24787968G>T	uc001wov.2	-	24	2979	c.2973C>A	c.(2971-2973)CCC>CCA	p.P991P	ADCY4_uc001wow.2_Silent_p.P991P|ADCY4_uc010toh.1_Silent_p.P677P|ADCY4_uc001wox.2_Silent_p.P991P|ADCY4_uc001woy.2_Silent_p.P991P	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	991	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.P991P(1)		ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)														---	---	---	---	capture		Silent	SNP	24787968	24787968	297	14	G	T	T	39	39	ADCY4	T	1	1
AKAP6	9472	broad.mit.edu	37	14	33014470	33014470	+	Nonsense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33014470C>G	uc001wrq.2	+	4	781	c.611C>G	c.(610-612)TCA>TGA	p.S204*	AKAP6_uc010aml.2_Nonsense_Mutation_p.S201*	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	A-kinase anchor protein 6	204					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---	capture		Nonsense_Mutation	SNP	33014470	33014470	458	14	C	G	G	29	29	AKAP6	G	5	3
LRFN5	145581	broad.mit.edu	37	14	42356354	42356354	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42356354C>A	uc001wvm.2	+	3	1724	c.526C>A	c.(526-528)CTT>ATT	p.L176I	LRFN5_uc010ana.2_Missense_Mutation_p.L176I	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III	176	Extracellular (Potential).|LRR 6.					integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)											HNSCC(30;0.082)			---	---	---	---	capture		Missense_Mutation	SNP	42356354	42356354	9314	14	C	A	A	24	24	LRFN5	A	2	2
SYNE2	23224	broad.mit.edu	37	14	64450532	64450532	+	Silent	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64450532A>G	uc001xgm.2	+	18	2309	c.2079A>G	c.(2077-2079)GAA>GAG	p.E693E	SYNE2_uc001xgl.2_Silent_p.E693E	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	693	Cytoplasmic (Potential).				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---	capture		Silent	SNP	64450532	64450532	15967	14	A	G	G	3	3	SYNE2	G	4	4
SIPA1L1	26037	broad.mit.edu	37	14	72138262	72138262	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72138262C>T	uc001xms.2	+	8	3030	c.2682C>T	c.(2680-2682)AGC>AGT	p.S894S	SIPA1L1_uc001xmt.2_Silent_p.S894S|SIPA1L1_uc001xmu.2_Silent_p.S894S|SIPA1L1_uc001xmv.2_Silent_p.S894S|SIPA1L1_uc010ttm.1_Silent_p.S369S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	894					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)														---	---	---	---	capture		Silent	SNP	72138262	72138262	14824	14	C	T	T	27	27	SIPA1L1	T	1	1
FLRT2	23768	broad.mit.edu	37	14	86087928	86087928	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:86087928C>A	uc001xvr.2	+	2	837	c.70C>A	c.(70-72)CTG>ATG	p.L24M	FLRT2_uc010atd.2_Missense_Mutation_p.L24M	NM_013231	NP_037363	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	24					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			ovary(3)|haematopoietic_and_lymphoid_tissue(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.0319)														---	---	---	---	capture		Missense_Mutation	SNP	86087928	86087928	6181	14	C	A	A	24	24	FLRT2	A	2	2
DYNC1H1	1778	broad.mit.edu	37	14	102452390	102452390	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102452390C>A	uc001yks.2	+	8	1992	c.1828C>A	c.(1828-1830)CAG>AAG	p.Q610K		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	610	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	102452390	102452390	5027	14	C	A	A	21	21	DYNC1H1	A	2	2
PPP1R13B	23368	broad.mit.edu	37	14	104251226	104251226	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104251226C>G	uc001yof.1	-	3	466	c.183G>C	c.(181-183)ATG>ATC	p.M61I	PPP1R13B_uc001yog.1_5'UTR	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	61					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---	capture		Missense_Mutation	SNP	104251226	104251226	12792	14	C	G	G	29	29	PPP1R13B	G	3	3
OCA2	4948	broad.mit.edu	37	15	28230328	28230328	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28230328G>C	uc001zbh.3	-	13	1356	c.1246C>G	c.(1246-1248)CGG>GGG	p.R416G	OCA2_uc010ayv.2_Missense_Mutation_p.R392G	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	416	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)										Oculocutaneous_Albinism				---	---	---	---	capture		Missense_Mutation	SNP	28230328	28230328	11220	15	G	C	C	39	39	OCA2	C	3	3
RYR3	6263	broad.mit.edu	37	15	34042220	34042220	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34042220G>A	uc001zhi.2	+	56	8310	c.8240G>A	c.(8239-8241)TGG>TAG	p.W2747*	RYR3_uc010bar.2_Nonsense_Mutation_p.W2747*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2747	4.|Cytoplasmic (By similarity).|4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)														---	---	---	---	capture		Nonsense_Mutation	SNP	34042220	34042220	14250	15	G	A	A	47	47	RYR3	A	5	2
SPINT1	6692	broad.mit.edu	37	15	41145372	41145372	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41145372C>A	uc001zna.2	+	3	730	c.526C>A	c.(526-528)CAG>AAG	p.Q176K	SPINT1_uc001znb.2_Missense_Mutation_p.Q176K|SPINT1_uc001znc.2_Missense_Mutation_p.Q176K|SPINT1_uc010ucs.1_Missense_Mutation_p.Q176K	NM_181642	NP_857593	O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	176						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	41145372	41145372	15580	15	C	A	A	21	21	SPINT1	A	2	2
SPG11	80208	broad.mit.edu	37	15	44912449	44912449	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44912449T>G	uc001ztx.2	-	15	2804	c.2773A>C	c.(2773-2775)ATT>CTT	p.I925L	SPG11_uc010ueh.1_Missense_Mutation_p.I925L|SPG11_uc010uei.1_Missense_Mutation_p.I925L|SPG11_uc001ztz.1_Missense_Mutation_p.I84L	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	spatacsin isoform 1	925	Extracellular (Potential).				cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---	capture		Missense_Mutation	SNP	44912449	44912449	15553	15	T	G	G	49	49	SPG11	G	4	4
SHC4	399694	broad.mit.edu	37	15	49148318	49148318	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49148318C>A	uc001zxb.1	-	8	1503	c.1074G>T	c.(1072-1074)GAG>GAT	p.E358D	SHC4_uc010uey.1_Missense_Mutation_p.E115D|SHC4_uc010uez.1_Missense_Mutation_p.E72D	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	rai-like protein	358	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				ovary(3)|pancreas(2)	5		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)														---	---	---	---	capture		Missense_Mutation	SNP	49148318	49148318	14765	15	C	A	A	24	24	SHC4	A	2	2
MNS1	55329	broad.mit.edu	37	15	56739137	56739137	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56739137C>G	uc002adr.2	-	4	523	c.358G>C	c.(358-360)GAG>CAG	p.E120Q	MNS1_uc010bfo.2_5'UTR	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	120	Potential.|Glu-rich.				meiosis					ovary(1)	1				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	56739137	56739137	10068	15	C	G	G	29	29	MNS1	G	3	3
IGDCC4	57722	broad.mit.edu	37	15	65684253	65684253	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65684253A>C	uc002aou.1	-	12	2399	c.2189T>G	c.(2188-2190)GTG>GGG	p.V730G	IGDCC4_uc002aot.1_Missense_Mutation_p.V318G	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member	730	Extracellular (Potential).|Fibronectin type-III 3.					integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	65684253	65684253	7870	15	A	C	C	6	6	IGDCC4	C	4	4
DIS3L	115752	broad.mit.edu	37	15	66621462	66621462	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66621462G>A	uc010ujm.1	+	13	2371	c.2356G>A	c.(2356-2358)GGT>AGT	p.G786S	DIS3L_uc002app.2_Missense_Mutation_p.G703S|DIS3L_uc010bho.2_Missense_Mutation_p.G652S	NM_001143688	NP_001137160	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S.	786					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	66621462	66621462	4715	15	G	A	A	39	39	DIS3L	A	1	1
SH2D7	646892	broad.mit.edu	37	15	78385066	78385066	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78385066C>A	uc010blb.1	+	1	140	c.140C>A	c.(139-141)GCC>GAC	p.A47D		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	47											0																		---	---	---	---	capture		Missense_Mutation	SNP	78385066	78385066	14730	15	C	A	A	26	26	SH2D7	A	2	2
PDE8A	5151	broad.mit.edu	37	15	85659249	85659249	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85659249C>A	uc002blh.2	+	16	1623	c.1434C>A	c.(1432-1434)CCC>CCA	p.P478P	PDE8A_uc002bli.2_Silent_p.P432P|PDE8A_uc010bnc.2_Silent_p.P231P|PDE8A_uc010bnd.2_Silent_p.P231P|PDE8A_uc002blj.2_Silent_p.P98P|PDE8A_uc002blk.2_Silent_p.P98P	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	478					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)															---	---	---	---	capture		Silent	SNP	85659249	85659249	12074	15	C	A	A	21	21	PDE8A	A	2	2
UNC45A	55898	broad.mit.edu	37	15	91496243	91496243	+	Silent	SNP	G	T	T	rs140310728	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91496243G>T	uc002bqg.2	+	18	2728	c.2388G>T	c.(2386-2388)ACG>ACT	p.T796T	UNC45A_uc002bqd.2_Silent_p.T781T|UNC45A_uc010uqr.1_Silent_p.T188T|UNC45A_uc002bqi.2_Silent_p.T74T|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	smooth muscle cell associated protein-1 isoform	796					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)															---	---	---	---	capture		Silent	SNP	91496243	91496243	17546	15	G	T	T	39	39	UNC45A	T	1	1
ZNF598	90850	broad.mit.edu	37	16	2049631	2049631	+	Missense_Mutation	SNP	G	A	A	rs144186452	by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2049631G>A	uc002cof.1	-	11	1934	c.1919C>T	c.(1918-1920)CCG>CTG	p.P640L	ZNF598_uc002coe.1_Missense_Mutation_p.P4L	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	640	Pro-rich.					intracellular	zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	2049631	2049631	18623	16	G	A	A	39	39	ZNF598	A	1	1
SRRM2	23524	broad.mit.edu	37	16	2812505	2812505	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2812505G>T	uc002crk.2	+	11	2525	c.1976G>T	c.(1975-1977)CGC>CTC	p.R659L	SRRM2_uc002crj.1_Missense_Mutation_p.R563L|SRRM2_uc002crl.1_Missense_Mutation_p.R659L|SRRM2_uc010bsu.1_Missense_Mutation_p.R563L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	659	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2812505	2812505	15683	16	G	T	T	38	38	SRRM2	T	1	1
SRRM2	23524	broad.mit.edu	37	16	2813279	2813279	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2813279C>T	uc002crk.2	+	11	3299	c.2750C>T	c.(2749-2751)CCC>CTC	p.P917L	SRRM2_uc002crj.1_Missense_Mutation_p.P821L|SRRM2_uc002crl.1_Missense_Mutation_p.P917L|SRRM2_uc010bsu.1_Missense_Mutation_p.P821L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	917	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	2813279	2813279	15683	16	C	T	T	22	22	SRRM2	T	2	2
CLDN6	9074	broad.mit.edu	37	16	3066004	3066004	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3066004G>T	uc002csu.3	-	2	79	c.19C>A	c.(19-21)CAG>AAG	p.Q7K		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	7	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	3066004	3066004	3626	16	G	T	T	46	46	CLDN6	T	2	2
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	T	T	rs148779363	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14340860C>T	uc010uza.1	+	12	1898	c.1743C>T	c.(1741-1743)ATC>ATT	p.I581I	MKL2_uc002dcg.2_Silent_p.I581I|MKL2_uc002dcj.2_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	megakaryoblastic leukemia 2 protein	570	Required for interaction with itself and with MKL1.|Potential.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---	capture		Silent	SNP	14340860	14340860	9992	16	C	T	T	31	31	MKL2	T	1	1
EEF2K	29904	broad.mit.edu	37	16	22268972	22268972	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:22268972G>T	uc002dki.2	+	9	1395	c.910G>T	c.(910-912)GGG>TGG	p.G304W	EEF2K_uc002dkh.2_RNA	NM_013302	NP_037434	O00418	EF2K_HUMAN	elongation factor-2 kinase	304	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(48;0.0223)														---	---	---	---	capture		Missense_Mutation	SNP	22268972	22268972	5117	16	G	T	T	39	39	EEF2K	T	1	1
ERN2	10595	broad.mit.edu	37	16	23712343	23712343	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23712343G>T	uc002dma.3	-	12	1609	c.1440C>A	c.(1438-1440)GAC>GAA	p.D480E	ERN2_uc010bxp.2_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.D288E	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	432	Helical; (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)														---	---	---	---	capture		Missense_Mutation	SNP	23712343	23712343	5431	16	G	T	T	44	44	ERN2	T	2	2
PRKCB	5579	broad.mit.edu	37	16	24196462	24196462	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24196462G>T	uc002dmd.2	+	14	1761	c.1564G>T	c.(1564-1566)GTG>TTG	p.V522L	PRKCB_uc002dme.2_Missense_Mutation_p.V522L	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	522	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	24196462	24196462	12951	16	G	T	T	40	40	PRKCB	T	1	1
TNRC6A	27327	broad.mit.edu	37	16	24802937	24802937	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24802937C>A	uc002dmm.2	+	6	3088	c.2974C>A	c.(2974-2976)CCA>ACA	p.P992T	TNRC6A_uc010bxs.2_Missense_Mutation_p.P739T|TNRC6A_uc010vcc.1_Missense_Mutation_p.P739T|TNRC6A_uc002dmn.2_Missense_Mutation_p.P739T|TNRC6A_uc002dmo.2_Missense_Mutation_p.P739T	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	992	Sufficient for interaction with EIF2C1 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		Missense_Mutation	SNP	24802937	24802937	16881	16	C	A	A	22	22	TNRC6A	A	2	2
ZNF48	197407	broad.mit.edu	37	16	30409994	30409994	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30409994G>T	uc002dya.1	+	2	1482	c.1423G>T	c.(1423-1425)GGG>TGG	p.G475W	ZNF48_uc002dxz.1_Missense_Mutation_p.G352W	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	475	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	30409994	30409994	18528	16	G	T	T	35	35	ZNF48	T	2	2
ABCC11	85320	broad.mit.edu	37	16	48234333	48234333	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48234333G>A	uc002eff.1	-	14	2286	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C	ABCC11_uc002efg.1_Missense_Mutation_p.R646C|ABCC11_uc002efh.1_Missense_Mutation_p.R646C|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	646	ABC transporter 1.|Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												Cerumen_Type				---	---	---	---	capture		Missense_Mutation	SNP	48234333	48234333	52	16	G	A	A	39	39	ABCC11	A	1	1
SALL1	6299	broad.mit.edu	37	16	51176026	51176026	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51176026G>T	uc010vgs.1	-	2	138	c.107C>A	c.(106-108)CCT>CAT	p.P36H	SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	36					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	51176026	51176026	14290	16	G	T	T	35	35	SALL1	T	2	2
CES7	221223	broad.mit.edu	37	16	55883659	55883659	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55883659C>T	uc002eip.2	-	11	1449	c.1300G>A	c.(1300-1302)GAG>AAG	p.E434K	CES7_uc002eio.2_Intron|CES7_uc002eiq.2_Missense_Mutation_p.E195K|CES7_uc002eir.2_Missense_Mutation_p.E328K	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN	carboxylesterase 7 isoform 1	434						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity				0				all cancers(182;0.229)|Epithelial(162;0.231)														---	---	---	---	capture		Missense_Mutation	SNP	55883659	55883659	3405	16	C	T	T	29	29	CES7	T	2	2
CHST5	23563	broad.mit.edu	37	16	75563644	75563644	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75563644G>T	uc002fei.2	-	3	2034	c.639C>A	c.(637-639)CCC>CCA	p.P213P	CHST5_uc002fej.1_Silent_p.P219P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	213	Lumenal (Potential).				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---	capture		Silent	SNP	75563644	75563644	3541	16	G	T	T	39	39	CHST5	T	1	1
CNTNAP4	85445	broad.mit.edu	37	16	76555968	76555968	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76555968G>T	uc002feu.1	+	19	2954	c.2569G>T	c.(2569-2571)GGG>TGG	p.G857W	CNTNAP4_uc002fev.1_Missense_Mutation_p.G721W|CNTNAP4_uc010chb.1_Missense_Mutation_p.G784W|CNTNAP4_uc002fex.1_Missense_Mutation_p.G860W	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	857	Extracellular (Potential).|Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	76555968	76555968	3787	16	G	T	T	43	43	CNTNAP4	T	2	2
GAN	8139	broad.mit.edu	37	16	81397433	81397433	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81397433G>T	uc002fgo.2	+	7	1269	c.1121G>T	c.(1120-1122)GGG>GTG	p.G374V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	gigaxonin	374	Kelch 2.				cell death	cytoplasm|neurofilament	protein binding			ovary(2)	2		Colorectal(91;0.153)																---	---	---	---	capture		Missense_Mutation	SNP	81397433	81397433	6496	16	G	T	T	43	43	GAN	T	2	2
JPH3	57338	broad.mit.edu	37	16	87678227	87678227	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87678227G>A	uc002fkd.2	+	2	1000	c.746G>A	c.(745-747)GGC>GAC	p.G249D	JPH3_uc010vou.1_RNA	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	junctophilin 3	249	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			ovary(1)|pancreas(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0287)														---	---	---	---	capture		Missense_Mutation	SNP	87678227	87678227	8266	16	G	A	A	42	42	JPH3	A	2	2
SPIRE2	84501	broad.mit.edu	37	16	89936621	89936621	+	Missense_Mutation	SNP	C	T	T	rs144349271		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89936621C>T	uc002foz.1	+	15	2138	c.2086C>T	c.(2086-2088)CGC>TGC	p.R696C	SPIRE2_uc010ciw.1_Missense_Mutation_p.R648C|SPIRE2_uc002fpa.1_Missense_Mutation_p.R648C|SPIRE2_uc010cix.1_Missense_Mutation_p.R563C	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	spire homolog 2	696					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)	1		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)														---	---	---	---	capture		Missense_Mutation	SNP	89936621	89936621	15585	16	C	T	T	19	19	SPIRE2	T	1	1
VPS53	55275	broad.mit.edu	37	17	534816	534816	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:534816C>T	uc002frn.2	-	8	808	c.661G>A	c.(661-663)GAA>AAA	p.E221K	VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.E221K|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E192K|VPS53_uc002fro.2_Missense_Mutation_p.E23K|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	221					protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---	capture		Missense_Mutation	SNP	534816	534816	17782	17	C	T	T	32	32	VPS53	T	2	2
CTNS	1497	broad.mit.edu	37	17	3563244	3563244	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3563244G>A	uc002fwb.2	+	11	1538	c.945G>A	c.(943-945)CAG>CAA	p.Q315Q	CTNS_uc002fwa.2_Silent_p.Q315Q|CTNS_uc010ckj.2_Silent_p.Q315Q|CTNS_uc010vrv.1_Silent_p.Q168Q|CTNS_uc010vrw.1_Silent_p.Q207Q	NM_004937	NP_004928	O60931	CTNS_HUMAN	cystinosin isoform 2	315	Helical; (Potential).|PQ-loop 2.				ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity				0				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)													---	---	---	---	capture		Silent	SNP	3563244	3563244	4180	17	G	A	A	33	33	CTNS	A	2	2
ZZEF1	23140	broad.mit.edu	37	17	3912964	3912964	+	Silent	SNP	G	T	T	rs76915727	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3912964G>T	uc002fxe.2	-	53	8731	c.8667C>A	c.(8665-8667)CCC>CCA	p.P2889P	ZZEF1_uc002fxg.1_Silent_p.P210P	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2889							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---	capture		Silent	SNP	3912964	3912964	18861	17	G	T	T	39	39	ZZEF1	T	1	1
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	A	A	rs28934576	by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577120C>A	uc002gim.2	-	8	1012	c.818G>T	c.(817-819)CGT>CTT	p.R273L	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		Missense_Mutation	SNP	7577120	7577120	16923	17	C	A	A	19	19	TP53	A	1	1
FLII	2314	broad.mit.edu	37	17	18158541	18158541	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18158541C>A	uc002gsr.1	-	4	334	c.283G>T	c.(283-285)GGA>TGA	p.G95*	FLII_uc002gsq.1_5'UTR|FLII_uc010cpy.1_Nonsense_Mutation_p.G84*|FLII_uc010vxn.1_Nonsense_Mutation_p.G64*|FLII_uc010vxo.1_Nonsense_Mutation_p.G95*|FLII_uc002gss.1_Nonsense_Mutation_p.G95*|uc010vxp.1_5'Flank	NM_002018	NP_002009	Q13045	FLII_HUMAN	flightless I homolog	95	Interaction with LRRFIP1 and LRRFIP2.|LRR 4.				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		Nonsense_Mutation	SNP	18158541	18158541	6163	17	C	A	A	23	23	FLII	A	5	1
CCL16	6360	broad.mit.edu	37	17	34304717	34304717	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34304717C>A	uc002hkl.2	-	3	315	c.248G>T	c.(247-249)TGG>TTG	p.W83L	CCL16_uc002hkm.2_RNA	NM_004590	NP_004581	O15467	CCL16_HUMAN	small inducible cytokine A16 precursor	83					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	34304717	34304717	3012	17	C	A	A	21	21	CCL16	A	2	2
CCL3	6348	broad.mit.edu	37	17	34416024	34416024	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34416024A>T	uc002hkv.2	-	3	375	c.273T>A	c.(271-273)AGT>AGA	p.S91R		NM_002983	NP_002974	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3	91					cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	34416024	34416024	3026	17	A	T	T	6	6	CCL3	T	4	4
KRT39	390792	broad.mit.edu	37	17	39118787	39118787	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39118787C>A	uc002hvo.1	-	4	773	c.737G>T	c.(736-738)GGG>GTG	p.G246V	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	type I hair keratin KA35	246	Linker 12.|Rod.					intermediate filament	structural molecule activity				0		Breast(137;0.00043)|Ovarian(249;0.15)																---	---	---	---	capture		Missense_Mutation	SNP	39118787	39118787	8791	17	C	A	A	22	22	KRT39	A	2	2
SLC25A39	51629	broad.mit.edu	37	17	42398095	42398095	+	Silent	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42398095C>G	uc002ign.2	-	9	850	c.696G>C	c.(694-696)CTG>CTC	p.L232L	SLC25A39_uc002igm.2_Silent_p.L224L|SLC25A39_uc002igo.2_Silent_p.L224L|SLC25A39_uc010wiw.1_Silent_p.L209L|SLC25A39_uc010czu.2_Silent_p.L100L|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	232	Helical; Name=4; (Potential).|Solcar 2.				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---	capture		Silent	SNP	42398095	42398095	15000	17	C	G	G	17	17	SLC25A39	G	3	3
GRN	2896	broad.mit.edu	37	17	42429158	42429158	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42429158C>A	uc002igp.1	+	10	1393	c.1174C>A	c.(1174-1176)CCA>ACA	p.P392T	GRN_uc002igr.1_Missense_Mutation_p.P186T	NM_002087	NP_002078	P28799	GRN_HUMAN	granulin precursor	392					signal transduction	extracellular space	cytokine activity|growth factor activity			ovary(2)|central_nervous_system(2)|skin(1)	5		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---	capture		Missense_Mutation	SNP	42429158	42429158	7083	17	C	A	A	22	22	GRN	A	2	2
TBX21	30009	broad.mit.edu	37	17	45822322	45822322	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45822322C>T	uc002ilv.1	+	6	1409	c.1198C>T	c.(1198-1200)CGA>TGA	p.R400*		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	T-box 21	400					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	45822322	45822322	16183	17	C	T	T	31	31	TBX21	T	5	1
CACNA1G	8913	broad.mit.edu	37	17	48683330	48683330	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48683330C>A	uc002irk.1	+	23	4740	c.4368C>A	c.(4366-4368)GCC>GCA	p.A1456A	CACNA1G_uc002iri.1_Silent_p.A1456A|CACNA1G_uc002irj.1_Silent_p.A1433A|CACNA1G_uc002irl.1_Silent_p.A1433A|CACNA1G_uc002irm.1_Silent_p.A1433A|CACNA1G_uc002irn.1_Silent_p.A1433A|CACNA1G_uc002iro.1_Silent_p.A1433A|CACNA1G_uc002irp.1_Silent_p.A1456A|CACNA1G_uc002irq.1_Silent_p.A1433A|CACNA1G_uc002irr.1_Silent_p.A1456A|CACNA1G_uc002irs.1_Silent_p.A1456A|CACNA1G_uc002irt.1_Silent_p.A1456A|CACNA1G_uc002irv.1_Silent_p.A1456A|CACNA1G_uc002irw.1_Silent_p.A1433A|CACNA1G_uc002iru.1_Silent_p.A1433A|CACNA1G_uc002irx.1_Silent_p.A1369A|CACNA1G_uc002iry.1_Silent_p.A1369A|CACNA1G_uc002irz.1_Silent_p.A1369A|CACNA1G_uc002isa.1_Silent_p.A1369A|CACNA1G_uc002isb.1_Silent_p.A1369A|CACNA1G_uc002isc.1_Silent_p.A1369A|CACNA1G_uc002isd.1_Silent_p.A1369A|CACNA1G_uc002ise.1_Silent_p.A1369A|CACNA1G_uc002isf.1_Silent_p.A1369A|CACNA1G_uc002isg.1_Silent_p.A1369A|CACNA1G_uc002ish.1_Silent_p.A1369A|CACNA1G_uc002isi.1_Silent_p.A1346A|CACNA1G_uc002isj.2_Silent_p.A180A	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	1456	Extracellular (Potential).|III.				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---	capture		Silent	SNP	48683330	48683330	2660	17	C	A	A	23	23	CACNA1G	A	1	1
SFRS1	6426	broad.mit.edu	37	17	56083716	56083716	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56083716C>G	uc002ivi.2	-	2	576	c.367G>C	c.(367-369)GTG>CTG	p.V123L	SFRS1_uc002ivj.2_Missense_Mutation_p.V123L	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	123	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	56083716	56083716	14654	17	C	G	G	20	20	SFRS1	G	3	3
TANC2	26115	broad.mit.edu	37	17	61432336	61432336	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61432336C>A	uc002jal.3	+	12	1968	c.1945C>A	c.(1945-1947)CTC>ATC	p.L649I	TANC2_uc010wpe.1_Missense_Mutation_p.L559I|TANC2_uc002jam.1_Missense_Mutation_p.L16I	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	649							binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	61432336	61432336	16066	17	C	A	A	24	24	TANC2	A	2	2
COG1	9382	broad.mit.edu	37	17	71196782	71196782	+	Missense_Mutation	SNP	G	T	T	rs149528257		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71196782G>T	uc002jjg.2	+	6	1184	c.1148G>T	c.(1147-1149)CGG>CTG	p.R383L	COG1_uc002jjh.2_Missense_Mutation_p.R383L|COG1_uc002jjf.1_Missense_Mutation_p.R383L	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	383					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.197)															---	---	---	---	capture		Missense_Mutation	SNP	71196782	71196782	3795	17	G	T	T	39	39	COG1	T	1	1
ACOX1	51	broad.mit.edu	37	17	73945424	73945424	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73945424C>A	uc002jqf.2	-	12	1892	c.1602G>T	c.(1600-1602)GTG>GTT	p.V534V	ACOX1_uc010wsq.1_Silent_p.V496V|ACOX1_uc002jqe.2_Silent_p.V534V|ACOX1_uc010wsr.1_Silent_p.V466V	NM_007292	NP_009223	Q15067	ACOX1_HUMAN	acyl-Coenzyme A oxidase 1 isoform b	534				VV -> GL (in Ref. 1; AAA19113 and 2; AAA18595).	fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	73945424	73945424	159	17	C	A	A	21	21	ACOX1	A	2	2
RNF213	57674	broad.mit.edu	37	17	78319717	78319717	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78319717C>T	uc002jyh.1	+	4	2024	c.1801C>T	c.(1801-1803)CGG>TGG	p.R601W		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---	capture		Missense_Mutation	SNP	78319717	78319717	13955	17	C	T	T	23	23	RNF213	T	1	1
NDUFV2	4729	broad.mit.edu	37	18	9122569	9122569	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9122569C>T	uc002knu.2	+	5	426	c.359C>T	c.(358-360)ACA>ATA	p.T120I		NM_021074	NP_066552	P19404	NDUV2_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 2	120					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	9122569	9122569	10699	18	C	T	T	17	17	NDUFV2	T	2	2
ZNF521	25925	broad.mit.edu	37	18	22805745	22805745	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:22805745G>T	uc002kvk.2	-	4	2384	c.2137C>A	c.(2137-2139)CTG>ATG	p.L713M	ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L713M|ZNF521_uc002kvl.2_Missense_Mutation_p.L493M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	zinc finger protein 521	713	C2H2-type 16.				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			ovary(4)|large_intestine(2)|lung(1)	7	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)							T	PAX5	ALL								---	---	---	---	capture		Missense_Mutation	SNP	22805745	22805745	18559	18	G	T	T	35	35	ZNF521	T	2	2
MBD1	4152	broad.mit.edu	37	18	47802076	47802076	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47802076C>A	uc010dow.1	-	8	1123	c.686G>T	c.(685-687)CGG>CTG	p.R229L	MBD1_uc002lef.2_Missense_Mutation_p.R11L|MBD1_uc002leg.2_Missense_Mutation_p.R180L|MBD1_uc010xdi.1_Missense_Mutation_p.R255L|MBD1_uc002leh.3_Missense_Mutation_p.R229L|MBD1_uc002len.2_Missense_Mutation_p.R229L|MBD1_uc002lei.3_Missense_Mutation_p.R229L|MBD1_uc002lej.3_Missense_Mutation_p.R229L|MBD1_uc002lek.3_Missense_Mutation_p.R180L|MBD1_uc002lel.3_Missense_Mutation_p.R229L|MBD1_uc002lem.3_Missense_Mutation_p.R229L|MBD1_uc010xdj.1_Missense_Mutation_p.R229L|MBD1_uc010xdk.1_Missense_Mutation_p.R229L|MBD1_uc010dox.1_Missense_Mutation_p.R229L|MBD1_uc002leo.2_Missense_Mutation_p.R229L	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	229	CXXC-type 2.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47802076	47802076	9726	18	C	A	A	23	23	MBD1	A	1	1
CDH7	1005	broad.mit.edu	37	18	63477173	63477173	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:63477173C>A	uc002ljz.2	+	3	769	c.444C>A	c.(442-444)GAC>GAA	p.D148E	CDH7_uc002lka.2_Missense_Mutation_p.D148E|CDH7_uc002lkb.2_Missense_Mutation_p.D148E	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	148	Extracellular (Potential).|Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)																---	---	---	---	capture		Missense_Mutation	SNP	63477173	63477173	3244	18	C	A	A	17	17	CDH7	A	2	2
CTDP1	9150	broad.mit.edu	37	18	77477810	77477810	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:77477810G>T	uc002lnh.1	+	10	2358	c.2211G>T	c.(2209-2211)AGG>AGT	p.R737S	CTDP1_uc002lni.1_Missense_Mutation_p.R737S|CTDP1_uc010drd.1_Missense_Mutation_p.R737S	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	737					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)														---	---	---	---	capture		Missense_Mutation	SNP	77477810	77477810	4161	18	G	T	T	43	43	CTDP1	T	2	2
TCF3	6929	broad.mit.edu	37	19	1615454	1615454	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1615454C>A	uc002ltr.2	-	18	1719	c.1652G>T	c.(1651-1653)CGG>CTG	p.R551L	TCF3_uc002ltn.2_Intron|TCF3_uc002lto.2_Missense_Mutation_p.R312L|TCF3_uc002ltt.3_Intron|TCF3_uc002ltq.2_Missense_Mutation_p.R555L|TCF3_uc002lts.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	transcription factor 3 isoform E12	551	Basic motif.			R->K: No DNA-binding.|RR->GG: No DNA-binding.	B cell lineage commitment|B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			lung(2)|breast(2)|ovary(1)|large_intestine(1)|skin(1)	7		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)				T	PBX1|HLF|TFPT	pre B-ALL								---	---	---	---	capture		Missense_Mutation	SNP	1615454	1615454	16220	19	C	A	A	23	23	TCF3	A	1	1
CCDC94	55702	broad.mit.edu	37	19	4254382	4254382	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4254382G>C	uc002lzv.3	+	4	334	c.301G>C	c.(301-303)GAG>CAG	p.E101Q		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	101											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---	capture		Missense_Mutation	SNP	4254382	4254382	2998	19	G	C	C	41	41	CCDC94	C	3	3
TMEM146	257062	broad.mit.edu	37	19	5751819	5751819	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5751819C>T	uc002mda.2	+	12	1210	c.1149C>T	c.(1147-1149)CAC>CAT	p.H383H	TMEM146_uc010duj.1_Silent_p.H41H	NM_152784	NP_689997	Q86XM0	TM146_HUMAN	transmembrane protein 146 precursor	383	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Silent	SNP	5751819	5751819	16592	19	C	T	T	19	19	TMEM146	T	1	1
PNPLA6	10908	broad.mit.edu	37	19	7625941	7625941	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7625941G>C	uc010xjq.1	+	32	4083	c.3888G>C	c.(3886-3888)GAG>GAC	p.E1296D	PNPLA6_uc002mgq.1_Missense_Mutation_p.E1248D|PNPLA6_uc010xjp.1_Missense_Mutation_p.E1221D|PNPLA6_uc002mgr.1_Missense_Mutation_p.E1248D|PNPLA6_uc002mgs.2_Missense_Mutation_p.E1286D|PNPLA6_uc002mgt.1_RNA	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN	neuropathy target esterase isoform b	1287	Cytoplasmic (Potential).			E -> G (in Ref. 5; CAB43674).	cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	7625941	7625941	12596	19	G	C	C	33	33	PNPLA6	C	3	3
FCER2	2208	broad.mit.edu	37	19	7762440	7762440	+	Missense_Mutation	SNP	C	A	A	rs72558007	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7762440C>A	uc002mhn.2	-	5	410	c.226G>T	c.(226-228)GGT>TGT	p.G76C	FCER2_uc010xjs.1_5'UTR|FCER2_uc010xjt.1_5'UTR|FCER2_uc002mhm.2_Missense_Mutation_p.G76C|FCER2_uc010dvo.2_Missense_Mutation_p.G76C	NM_002002	NP_001993	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor	76	Extracellular (Potential).|				positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	7762440	7762440	6013	19	C	A	A	23	23	FCER2	A	1	1
EVI5L	115704	broad.mit.edu	37	19	7916426	7916426	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7916426C>A	uc002min.2	+	7	1014	c.860C>A	c.(859-861)CCC>CAC	p.P287H	EVI5L_uc010xjz.1_Missense_Mutation_p.P287H|EVI5L_uc002mio.1_Missense_Mutation_p.P18H	NM_145245	NP_660288	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like isoform	287	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	7916426	7916426	5483	19	C	A	A	22	22	EVI5L	A	2	2
MUC16	94025	broad.mit.edu	37	19	9072086	9072086	+	Silent	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9072086A>G	uc002mkp.2	-	3	15564	c.15360T>C	c.(15358-15360)TCT>TCC	p.S5120S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5122	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Silent	SNP	9072086	9072086	10367	19	A	G	G	15	15	MUC16	G	4	4
ZNF440	126070	broad.mit.edu	37	19	11943153	11943153	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11943153A>G	uc002msp.1	+	4	1318	c.1162A>G	c.(1162-1164)AGG>GGG	p.R388G		NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	388	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	11943153	11943153	18506	19	A	G	G	3	3	ZNF440	G	4	4
ZNF536	9745	broad.mit.edu	37	19	30934940	30934940	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30934940C>T	uc002nsu.1	+	2	609	c.471C>T	c.(469-471)CCC>CCT	p.P157P	ZNF536_uc010edd.1_Silent_p.P157P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	157					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		Silent	SNP	30934940	30934940	18568	19	C	T	T	24	24	ZNF536	T	2	2
ZNF181	339318	broad.mit.edu	37	19	35232191	35232191	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35232191T>C	uc002nvu.3	+	4	1368	c.905T>C	c.(904-906)TTT>TCT	p.F302S	ZNF181_uc010xsa.1_Missense_Mutation_p.F301S|ZNF181_uc010xsb.1_Missense_Mutation_p.F301S|ZNF181_uc010xsc.1_Missense_Mutation_p.F237S	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	zinc finger protein 181 isoform 1	302	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)															---	---	---	---	capture		Missense_Mutation	SNP	35232191	35232191	18340	19	T	C	C	64	64	ZNF181	C	4	4
ZNF571	51276	broad.mit.edu	37	19	38055702	38055702	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38055702G>C	uc002ogt.2	-	4	1729	c.1628C>G	c.(1627-1629)TCA>TGA	p.S543*	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Nonsense_Mutation_p.S543*	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	543	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Nonsense_Mutation	SNP	38055702	38055702	18598	19	G	C	C	45	45	ZNF571	C	5	3
PPP1R14A	94274	broad.mit.edu	37	19	38742961	38742961	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38742961A>C	uc002ohq.2	-	3	493	c.300T>G	c.(298-300)TGT>TGG	p.C100W	PPP1R14A_uc010efv.2_Missense_Mutation_p.C73W	NM_033256	NP_150281	Q96A00	PP14A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	100	Inhibitory.				regulation of phosphorylation	cytoplasm	protein binding|protein phosphatase inhibitor activity				0	all_cancers(60;9.57e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)															---	---	---	---	capture		Missense_Mutation	SNP	38742961	38742961	12794	19	A	C	C	6	6	PPP1R14A	C	4	4
FPR2	2358	broad.mit.edu	37	19	52272195	52272195	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52272195G>C	uc002pxr.2	+	2	329	c.284G>C	c.(283-285)TGG>TCG	p.W95S	FPR2_uc002pxs.3_Missense_Mutation_p.W95S|FPR2_uc010epf.2_Missense_Mutation_p.W95S	NM_001005738	NP_001005738	P25090	FPR2_HUMAN	formyl peptide receptor-like 1	95	Extracellular (Potential).				cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	52272195	52272195	6285	19	G	C	C	47	47	FPR2	C	3	3
ZNF28	7576	broad.mit.edu	37	19	53304795	53304795	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53304795C>T	uc002qad.2	-	4	423	c.303G>A	c.(301-303)TGG>TGA	p.W101*	ZNF28_uc002qac.2_Nonsense_Mutation_p.W48*|ZNF28_uc010eqe.2_Nonsense_Mutation_p.W47*	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)														---	---	---	---	capture		Nonsense_Mutation	SNP	53304795	53304795	18405	19	C	T	T	30	30	ZNF28	T	5	2
LILRB5	10990	broad.mit.edu	37	19	54758611	54758611	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54758611C>G	uc002qex.2	-	6	1353	c.1242G>C	c.(1240-1242)GAG>GAC	p.E414D	LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.E405D|LILRB5_uc002qey.2_Missense_Mutation_p.E414D|LILRB5_uc002qez.2_Missense_Mutation_p.E314D|LILRB5_uc002qfa.1_Missense_Mutation_p.E304D|LILRB5_uc010yes.1_RNA	NM_006840	NP_006831	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor,	414	Ig-like C2-type 4.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			ovary(1)|pancreas(1)	2	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Missense_Mutation	SNP	54758611	54758611	9120	19	C	G	G	28	28	LILRB5	G	3	3
LILRB2	10288	broad.mit.edu	37	19	54782923	54782923	+	Silent	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54782923A>G	uc002qfb.2	-	6	965	c.699T>C	c.(697-699)CCT>CCC	p.P233P	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.P233P|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.P233P|LILRB2_uc010yet.1_Silent_p.P117P|LILRB2_uc010yeu.1_Intron	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	233	Extracellular (Potential).|Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	capture		Silent	SNP	54782923	54782923	9117	19	A	G	G	7	7	LILRB2	G	4	4
LILRA1	11024	broad.mit.edu	37	19	55106308	55106308	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55106308C>T	uc002qgh.1	+	4	431	c.249C>T	c.(247-249)TTC>TTT	p.F83F	LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.F83F	NM_006863	NP_006854	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor,	83	Ig-like C2-type 1.|Extracellular (Potential).				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			skin(2)|ovary(1)	3				GBM - Glioblastoma multiforme(193;0.0348)														---	---	---	---	capture		Silent	SNP	55106308	55106308	9110	19	C	T	T	30	30	LILRA1	T	2	2
LILRB1	10859	broad.mit.edu	37	19	55143129	55143129	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55143129C>T	uc002qgj.2	+	5	589	c.249C>T	c.(247-249)TTC>TTT	p.F83F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.F83F|LILRB1_uc002qgk.2_Silent_p.F83F|LILRB1_uc002qgm.2_Silent_p.F83F|LILRB1_uc010erq.2_Silent_p.F83F|LILRB1_uc010err.2_RNA	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor,	83	Ig-like C2-type 1.|Extracellular (Potential).				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			large_intestine(1)|ovary(1)|skin(1)	3				GBM - Glioblastoma multiforme(193;0.0188)											HNSCC(37;0.09)			---	---	---	---	capture		Silent	SNP	55143129	55143129	9116	19	C	T	T	30	30	LILRB1	T	2	2
KIR2DS4	3809	broad.mit.edu	37	19	55351040	55351040	+	Missense_Mutation	SNP	G	A	A	rs3189418		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55351040G>A	uc002qhm.1	+	5	596	c.550G>A	c.(550-552)GAC>AAC	p.D184N	KIR2DS4_uc010yfj.1_Silent_p.P169P|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P176P|KIR2DS4_uc002qhn.1_Intron	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	184	Extracellular (Potential).|Ig-like C2-type 2.					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---	capture		Missense_Mutation	SNP	55351040	55351040	8631	19	G	A	A	37	37	KIR2DS4	A	1	1
NLRP7	199713	broad.mit.edu	37	19	55451776	55451776	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55451776G>T	uc002qih.3	-	4	487	c.411C>A	c.(409-411)ACC>ACA	p.T137T	NLRP7_uc002qig.3_Silent_p.T137T|NLRP7_uc002qii.3_Silent_p.T137T|NLRP7_uc010esk.2_Silent_p.T137T|NLRP7_uc010esl.2_Silent_p.T165T	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	137							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---	capture		Silent	SNP	55451776	55451776	10885	19	G	T	T	35	35	NLRP7	T	2	2
TNNT1	7138	broad.mit.edu	37	19	55652325	55652325	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55652325G>A	uc002qjb.3	-	9	402	c.313C>T	c.(313-315)CGG>TGG	p.R105W	TNNT1_uc002qiz.3_Missense_Mutation_p.R35W|TNNT1_uc002qja.3_Missense_Mutation_p.R35W|TNNT1_uc002qjc.3_Missense_Mutation_p.R105W|TNNT1_uc002qje.3_Missense_Mutation_p.R94W|TNNT1_uc002qjd.3_Missense_Mutation_p.R94W|TNNT1_uc002qjf.2_Missense_Mutation_p.R101W	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	105					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)												OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	55652325	55652325	16871	19	G	A	A	38	38	TNNT1	A	1	1
EPN1	29924	broad.mit.edu	37	19	56196873	56196873	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56196873C>A	uc002qlw.2	+	3	682	c.340C>A	c.(340-342)CGC>AGC	p.R114S	EPN1_uc002qlv.2_Missense_Mutation_p.R114S|EPN1_uc010etd.2_Missense_Mutation_p.R114S|EPN1_uc002qlx.2_Missense_Mutation_p.R225S	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	114	ENTH.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)														---	---	---	---	capture		Missense_Mutation	SNP	56196873	56196873	5378	19	C	A	A	23	23	EPN1	A	1	1
NLRP5	126206	broad.mit.edu	37	19	56515098	56515098	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56515098A>T	uc002qmj.2	+	2	79	c.79A>T	c.(79-81)ACA>TCA	p.T27S	NLRP5_uc002qmi.2_Missense_Mutation_p.T27S	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	27						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		Missense_Mutation	SNP	56515098	56515098	10883	19	A	T	T	6	6	NLRP5	T	4	4
DNMT3A	1788	broad.mit.edu	37	2	25467478	25467478	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25467478T>C	uc002rgc.2	-	14	1855	c.1598A>G	c.(1597-1599)TAC>TGC	p.Y533C	DNMT3A_uc002rgd.2_Missense_Mutation_p.Y533C|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Y344C	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	533	Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Mis|F|N|S		AML								---	---	---	---	capture		Missense_Mutation	SNP	25467478	25467478	4859	2	T	C	C	57	57	DNMT3A	C	4	4
LTBP1	4052	broad.mit.edu	37	2	33525541	33525541	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33525541A>G	uc002ros.2	+	21	3262	c.3262A>G	c.(3262-3264)AAT>GAT	p.N1088D	LTBP1_uc002rot.2_Missense_Mutation_p.N762D|LTBP1_uc002rou.2_Missense_Mutation_p.N761D|LTBP1_uc002rov.2_Missense_Mutation_p.N708D|LTBP1_uc010ymz.1_Missense_Mutation_p.N761D|LTBP1_uc010yna.1_Missense_Mutation_p.N708D|LTBP1_uc010ynb.1_Missense_Mutation_p.N27D	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1087	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)																---	---	---	---	capture		Missense_Mutation	SNP	33525541	33525541	9449	2	A	G	G	9	9	LTBP1	G	4	4
HAAO	23498	broad.mit.edu	37	2	43019633	43019633	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43019633C>A	uc002rst.3	-	1	119	c.44G>T	c.(43-45)CGG>CTG	p.R15L	HAAO_uc010ynw.1_Missense_Mutation_p.R15L	NM_012205	NP_036337	P46952	3HAO_HUMAN	3-hydroxyanthranilate 3,4-dioxygenase	15	Domain A (catalytic) (By similarity).				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	43019633	43019633	7219	2	C	A	A	23	23	HAAO	A	1	1
DYNC2LI1	51626	broad.mit.edu	37	2	44016793	44016793	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44016793T>C	uc002rtk.2	+	5	349	c.253T>C	c.(253-255)TGG>CGG	p.W85R	DYNC2LI1_uc002rth.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rti.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.W85R|DYNC2LI1_uc010ynz.1_5'UTR	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	85						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	44016793	44016793	5033	2	T	C	C	63	63	DYNC2LI1	C	4	4
LRPPRC	10128	broad.mit.edu	37	2	44128598	44128598	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44128598G>T	uc002rtr.2	-	32	3488	c.3430C>A	c.(3430-3432)CGT>AGT	p.R1144S	LRPPRC_uc010yob.1_Missense_Mutation_p.R1044S	NM_133259	NP_573566	P42704	LPPRC_HUMAN	leucine-rich PPR motif-containing protein	1144	RNA-binding.|PPR 18.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---	capture		Missense_Mutation	SNP	44128598	44128598	9338	2	G	T	T	39	39	LRPPRC	T	1	1
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808748	48808748	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48808748C>T	uc010yol.1	+	1	1023	c.976C>T	c.(976-978)CCA>TCA	p.P326S	STON1_uc002rwo.3_Missense_Mutation_p.P326S|STON1_uc010fbm.2_Missense_Mutation_p.P326S|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P326S|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P326S	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	stonin 1	326					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				ovary(3)|pancreas(1)|skin(1)	5		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	48808748	48808748	15837	2	C	T	T	30	30	STON1-GTF2A1L	T	2	2
FSHR	2492	broad.mit.edu	37	2	49210251	49210251	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49210251G>T	uc002rww.2	-	7	653	c.579C>A	c.(577-579)ACC>ACA	p.T193T	FSHR_uc002rwx.2_Silent_p.T193T|FSHR_uc010fbn.2_Silent_p.T167T|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	193	LRR 7.|Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---	capture		Silent	SNP	49210251	49210251	6324	2	G	T	T	43	43	FSHR	T	2	2
CCDC88A	55704	broad.mit.edu	37	2	55576722	55576722	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55576722C>T	uc002ryv.2	-	9	1656	c.814G>A	c.(814-816)GAG>AAG	p.E272K	CCDC88A_uc010yoz.1_Missense_Mutation_p.E272K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E272K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E174K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A isoform 1	272	Potential.				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	55576722	55576722	2988	2	C	T	T	29	29	CCDC88A	T	2	2
CCDC85A	114800	broad.mit.edu	37	2	56603032	56603032	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56603032C>G	uc002rzn.2	+	5	2036	c.1534C>G	c.(1534-1536)CCT>GCT	p.P512A		NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	512										breast(3)|ovary(2)	5			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---	capture		Missense_Mutation	SNP	56603032	56603032	2983	2	C	G	G	18	18	CCDC85A	G	3	3
BCL11A	53335	broad.mit.edu	37	2	60689201	60689201	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60689201C>A	uc002sae.1	-	4	1074	c.846G>T	c.(844-846)CTG>CTT	p.L282L	BCL11A_uc002sab.2_Silent_p.L282L|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.L248L|BCL11A_uc002sad.1_Silent_p.L130L|BCL11A_uc002saf.1_Silent_p.L248L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	282	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)					T	IGH@	B-CLL								---	---	---	---	capture		Silent	SNP	60689201	60689201	1384	2	C	A	A	21	21	BCL11A	A	2	2
BCL11A	53335	broad.mit.edu	37	2	60695936	60695936	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:60695936G>T	uc002sae.1	-	3	646	c.418C>A	c.(418-420)CCT>ACT	p.P140T	BCL11A_uc002sab.2_Missense_Mutation_p.P140T|BCL11A_uc002sac.2_Missense_Mutation_p.P140T|BCL11A_uc010ypi.1_5'UTR|BCL11A_uc010ypj.1_Intron|BCL11A_uc002sad.1_5'UTR|BCL11A_uc002saf.1_Intron	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A isoform 1	140	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)					T	IGH@	B-CLL								---	---	---	---	capture		Missense_Mutation	SNP	60695936	60695936	1384	2	G	T	T	43	43	BCL11A	T	2	2
KIAA1841	84542	broad.mit.edu	37	2	61319611	61319611	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61319611G>T	uc002saw.3	+	11	1404	c.1101G>T	c.(1099-1101)TGG>TGT	p.W367C	KIAA1841_uc002sax.3_Missense_Mutation_p.W221C|KIAA1841_uc002say.2_Missense_Mutation_p.W367C	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	KIAA1841 protein isoform a	367											0			Epithelial(17;0.193)															---	---	---	---	capture		Missense_Mutation	SNP	61319611	61319611	8572	2	G	T	T	43	43	KIAA1841	T	2	2
USP34	9736	broad.mit.edu	37	2	61459593	61459593	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61459593C>T	uc002sbe.2	-	58	7129	c.7107G>A	c.(7105-7107)GTG>GTA	p.V2369V	USP34_uc002sbf.2_Silent_p.V519V	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2369					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---	capture		Silent	SNP	61459593	61459593	17629	2	C	T	T	29	29	USP34	T	2	2
USP34	9736	broad.mit.edu	37	2	61459646	61459646	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61459646C>G	uc002sbe.2	-	58	7076	c.7054G>C	c.(7054-7056)GAT>CAT	p.D2352H	USP34_uc002sbf.2_Missense_Mutation_p.D502H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2352					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---	capture		Missense_Mutation	SNP	61459646	61459646	17629	2	C	G	G	29	29	USP34	G	3	3
APLF	200558	broad.mit.edu	37	2	68772369	68772369	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68772369A>T	uc002sep.2	+	8	1384	c.1211A>T	c.(1210-1212)TAT>TTT	p.Y404F	APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.Y380F|APLF_uc002ser.1_Missense_Mutation_p.Y135F	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	404					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	68772369	68772369	786	2	A	T	T	16	16	APLF	T	4	4
ARHGAP25	9938	broad.mit.edu	37	2	69046265	69046265	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69046265G>T	uc002seu.2	+	9	1375	c.1011G>T	c.(1009-1011)CAG>CAT	p.Q337H	ARHGAP25_uc010fdg.2_Missense_Mutation_p.Q338H|ARHGAP25_uc010yql.1_Missense_Mutation_p.Q298H|ARHGAP25_uc002sev.2_Missense_Mutation_p.Q331H|ARHGAP25_uc002sew.2_Missense_Mutation_p.Q330H|ARHGAP25_uc002sex.2_Missense_Mutation_p.Q331H|ARHGAP25_uc002sey.2_Missense_Mutation_p.Q64H	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Rho GTPase activating protein 25 isoform a	337	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	69046265	69046265	886	2	G	T	T	33	33	ARHGAP25	T	2	2
ZNF638	27332	broad.mit.edu	37	2	71577229	71577229	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71577229G>T	uc002shx.2	+	2	1464	c.1145G>T	c.(1144-1146)CGG>CTG	p.R382L	ZNF638_uc010fec.2_Missense_Mutation_p.R488L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.R382L|ZNF638_uc002shy.2_Missense_Mutation_p.R382L|ZNF638_uc002shz.2_Missense_Mutation_p.R382L|ZNF638_uc002sia.2_Missense_Mutation_p.R382L|ZNF638_uc002sib.1_Missense_Mutation_p.R382L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	zinc finger protein 638	382					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	71577229	71577229	18650	2	G	T	T	39	39	ZNF638	T	1	1
DCTN1	1639	broad.mit.edu	37	2	74593698	74593698	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74593698G>A	uc002skx.2	-	22	2827	c.2516C>T	c.(2515-2517)GCT>GTT	p.A839V	DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.A705V|DCTN1_uc002sku.2_Missense_Mutation_p.A705V|DCTN1_uc002skw.1_Missense_Mutation_p.A815V|DCTN1_uc010ffd.2_Missense_Mutation_p.A819V|DCTN1_uc002sky.2_Missense_Mutation_p.A802V	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	dynactin 1 isoform 1	839					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	74593698	74593698	4477	2	G	A	A	34	34	DCTN1	A	2	2
TMEM150A	129303	broad.mit.edu	37	2	85826823	85826823	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85826823C>A	uc002spw.1	-	6	1120	c.399G>T	c.(397-399)GTG>GTT	p.V133V	TMEM150A_uc002spx.1_Silent_p.V49V|TMEM150A_uc002spz.1_Silent_p.V80V|TMEM150A_uc002sqa.1_Silent_p.V49V|TMEM150A_uc002spy.1_Silent_p.V133V	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	transmembrane protein 150A isoform 1	133	Extracellular (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---	capture		Silent	SNP	85826823	85826823	16599	2	C	A	A	21	21	TMEM150A	A	2	2
EIF2AK3	9451	broad.mit.edu	37	2	88857340	88857340	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88857340T>C	uc002stc.3	-	17	3467	c.3265A>G	c.(3265-3267)AGA>GGA	p.R1089G		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha	1089	Cytoplasmic (Potential).				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	88857340	88857340	5187	2	T	C	C	55	55	EIF2AK3	C	4	4
KIAA1310	55683	broad.mit.edu	37	2	97276805	97276805	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97276805C>T	uc002swn.3	-	10	1303	c.1157G>A	c.(1156-1158)AGA>AAA	p.R386K	KIAA1310_uc002swh.3_Missense_Mutation_p.R274K|KIAA1310_uc002swi.3_Missense_Mutation_p.R287K|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R299K|KIAA1310_uc010fhz.2_Missense_Mutation_p.R180K|KIAA1310_uc002swl.3_Missense_Mutation_p.R287K|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.R180K|KIAA1310_uc002swp.1_Missense_Mutation_p.R287K|KIAA1310_uc002swq.1_Missense_Mutation_p.R158K|KIAA1310_uc010fhy.1_Missense_Mutation_p.R287K	NM_001115016	NP_001108488	Q9P2N6	K1310_HUMAN	hypothetical protein LOC55683 isoform a	386											0																		---	---	---	---	capture		Missense_Mutation	SNP	97276805	97276805	8531	2	C	T	T	32	32	KIAA1310	T	2	2
MAP4K4	9448	broad.mit.edu	37	2	102452415	102452415	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102452415C>T	uc002tbg.2	+	9	803	c.748C>T	c.(748-750)CCT>TCT	p.P250S	MAP4K4_uc002tbc.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbd.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbe.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbf.2_Missense_Mutation_p.P250S|MAP4K4_uc010yvy.1_Missense_Mutation_p.P250S|MAP4K4_uc002tbh.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.P230S|MAP4K4_uc010fiw.1_Missense_Mutation_p.P92S|MAP4K4_uc002tbj.1_Missense_Mutation_p.P146S	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	250	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	102452415	102452415	9645	2	C	T	T	30	30	MAP4K4	T	2	2
SLC9A4	389015	broad.mit.edu	37	2	103142717	103142717	+	Splice_Site	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103142717G>A	uc002tbz.3	+	11	2408	c.1951_splice	c.e11-1	p.A651_splice		NM_001011552	NP_001011552			solute carrier family 9 (sodium/hydrogen						regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Splice_Site	SNP	103142717	103142717	15213	2	G	A	A	35	35	SLC9A4	A	5	2
RANBP2	5903	broad.mit.edu	37	2	109384025	109384025	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109384025A>G	uc002tem.3	+	20	7156	c.7030A>G	c.(7030-7032)AAA>GAA	p.K2344E		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	2344	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	109384025	109384025	13488	2	A	G	G	13	13	RANBP2	G	4	4
DPP10	57628	broad.mit.edu	37	2	116572495	116572495	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:116572495G>A	uc002tla.1	+	20	2284	c.1827G>A	c.(1825-1827)CTG>CTA	p.L609L	DPP10_uc002tlb.1_Silent_p.L559L|DPP10_uc002tlc.1_Silent_p.L605L|DPP10_uc002tle.2_Silent_p.L613L|DPP10_uc002tlf.1_Silent_p.L602L	NM_020868	NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl peptidase 10 isoform long	609	Extracellular (Potential).				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			ovary(5)|large_intestine(2)|skin(2)|breast(1)	10																		---	---	---	---	capture		Silent	SNP	116572495	116572495	4911	2	G	A	A	45	45	DPP10	A	2	2
CNTNAP5	129684	broad.mit.edu	37	2	125671847	125671847	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125671847A>C	uc002tno.2	+	24	4267	c.3903A>C	c.(3901-3903)AAA>AAC	p.K1301N	CNTNAP5_uc010flu.2_Missense_Mutation_p.K1302N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1301	Cytoplasmic (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	125671847	125671847	3788	2	A	C	C	2	2	CNTNAP5	C	4	4
POLR2D	5433	broad.mit.edu	37	2	128610593	128610593	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128610593C>A	uc002tpj.2	-	2	215	c.160G>T	c.(160-162)GAA>TAA	p.E54*	POLR2D_uc002tpk.2_Nonsense_Mutation_p.E54*	NM_004805	NP_004796	O15514	RPB4_HUMAN	DNA directed RNA polymerase II polypeptide D	54					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|nucleotide binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0675)														---	---	---	---	capture		Nonsense_Mutation	SNP	128610593	128610593	12645	2	C	A	A	31	31	POLR2D	A	5	1
SAP130	79595	broad.mit.edu	37	2	128707902	128707902	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128707902G>A	uc002tpp.2	-	16	2608	c.2476C>T	c.(2476-2478)CTA>TTA	p.L826L	SAP130_uc002tpn.2_Silent_p.L586L|SAP130_uc002tpo.2_Silent_p.L606L|SAP130_uc010fmd.2_Silent_p.L861L	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	826	Pro-rich.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)														---	---	---	---	capture		Silent	SNP	128707902	128707902	14311	2	G	A	A	35	35	SAP130	A	2	2
SAP130	79595	broad.mit.edu	37	2	128747236	128747236	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128747236C>G	uc002tpp.2	-	13	1892	c.1760G>C	c.(1759-1761)GGC>GCC	p.G587A	SAP130_uc002tpn.2_Missense_Mutation_p.G348A|SAP130_uc002tpo.2_Missense_Mutation_p.G332A|SAP130_uc010fmd.2_Missense_Mutation_p.G587A|SAP130_uc002tpq.1_Missense_Mutation_p.G560A	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa isoform b	587					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(2)|skin(2)	4	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)														---	---	---	---	capture		Missense_Mutation	SNP	128747236	128747236	14311	2	C	G	G	26	26	SAP130	G	3	3
UGGT1	56886	broad.mit.edu	37	2	128913974	128913974	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128913974T>A	uc002tps.2	+	21	2423	c.2245T>A	c.(2245-2247)TCC>ACC	p.S749T	UGGT1_uc010fme.1_Missense_Mutation_p.S624T|UGGT1_uc002tpr.2_Missense_Mutation_p.S725T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	UDP-glucose ceramide glucosyltransferase-like 1	749					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	128913974	128913974	17499	2	T	A	A	54	54	UGGT1	A	4	4
MGAT5	4249	broad.mit.edu	37	2	135180449	135180449	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135180449G>C	uc002ttv.1	+	13	1898	c.1753G>C	c.(1753-1755)GAG>CAG	p.E585Q		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	585	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)														---	---	---	---	capture		Missense_Mutation	SNP	135180449	135180449	9938	2	G	C	C	41	41	MGAT5	C	3	3
LRP1B	53353	broad.mit.edu	37	2	141072507	141072507	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141072507G>T	uc002tvj.1	-	83	13774	c.12802C>A	c.(12802-12804)CTA>ATA	p.L4268I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4268	Extracellular (Potential).|EGF-like 11.				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		Missense_Mutation	SNP	141072507	141072507	9328	2	G	T	T	33	33	LRP1B	T	2	2
LRP1B	53353	broad.mit.edu	37	2	141081480	141081480	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141081480G>A	uc002tvj.1	-	81	13468	c.12496C>T	c.(12496-12498)CGT>TGT	p.R4166C		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4166	Extracellular (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		Missense_Mutation	SNP	141081480	141081480	9328	2	G	A	A	37	37	LRP1B	A	1	1
LRP1B	53353	broad.mit.edu	37	2	141533709	141533709	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141533709C>T	uc002tvj.1	-	33	6430	c.5458G>A	c.(5458-5460)GGG>AGG	p.G1820R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1820	Extracellular (Potential).|LDL-receptor class B 18.				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		Missense_Mutation	SNP	141533709	141533709	9328	2	C	T	T	21	21	LRP1B	T	2	2
NEB	4703	broad.mit.edu	37	2	152427088	152427088	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152427088T>C	uc010fnx.2	-	80	12129	c.11938A>G	c.(11938-11940)ATG>GTG	p.M3980V	NEB_uc002txr.2_Missense_Mutation_p.M403V	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	3980					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	152427088	152427088	10701	2	T	C	C	52	52	NEB	C	4	4
NEB	4703	broad.mit.edu	37	2	152529031	152529031	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152529031G>T	uc010fnx.2	-	37	4342	c.4151C>A	c.(4150-4152)CCT>CAT	p.P1384H		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	1384	Nebulin 35.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Missense_Mutation	SNP	152529031	152529031	10701	2	G	T	T	35	35	NEB	T	2	2
SCN2A	6326	broad.mit.edu	37	2	166210793	166210793	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166210793A>G	uc002udc.2	+	17	3301	c.3011A>G	c.(3010-3012)CAG>CGG	p.Q1004R	SCN2A_uc002udd.2_Missense_Mutation_p.Q1004R|SCN2A_uc002ude.2_Missense_Mutation_p.Q1004R	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	1004	II.				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---	capture		Missense_Mutation	SNP	166210793	166210793	14398	2	A	G	G	7	7	SCN2A	G	4	4
TTN	7273	broad.mit.edu	37	2	179605328	179605328	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179605328C>A	uc010zfh.1	-	46	12343	c.12119G>T	c.(12118-12120)GGG>GTG	p.G4040V	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.G3973V|TTN_uc010zfj.1_Missense_Mutation_p.G3848V|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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		Missense_Mutation	SNP	179605328	179605328	17290	2	C	A	A	22	22	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179665403	179665403	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179665403G>A	uc002und.2	-	4	527	c.302C>T	c.(301-303)ACA>ATA	p.T101I	TTN_uc010zfg.1_Missense_Mutation_p.T101I|TTN_uc010zfh.1_Missense_Mutation_p.T101I|TTN_uc010zfi.1_Missense_Mutation_p.T101I|TTN_uc010zfj.1_Missense_Mutation_p.T101I|TTN_uc002unb.2_Missense_Mutation_p.T101I			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	101							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		Missense_Mutation	SNP	179665403	179665403	17290	2	G	A	A	48	48	TTN	A	2	2
COL3A1	1281	broad.mit.edu	37	2	189876412	189876412	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189876412G>T	uc002uqj.1	+	51	4430	c.4313G>T	c.(4312-4314)AGA>ATA	p.R1438I		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1438	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)													---	---	---	---	capture		Missense_Mutation	SNP	189876412	189876412	3826	2	G	T	T	33	33	COL3A1	T	2	2
GLS	2744	broad.mit.edu	37	2	191795262	191795262	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:191795262G>T	uc002usf.2	+	13	1789	c.1525G>T	c.(1525-1527)GGC>TGC	p.G509C	GLS_uc002use.2_Missense_Mutation_p.G509C|GLS_uc002usg.1_Missense_Mutation_p.G170C|GLS_uc002ush.2_Missense_Mutation_p.G170C|GLS_uc010zgi.1_Missense_Mutation_p.G80C|GLS_uc010zgj.1_Missense_Mutation_p.G14C	NM_014905	NP_055720	O94925	GLSK_HUMAN	glutaminase precursor	509					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			ovary(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	191795262	191795262	6731	2	G	T	T	43	43	GLS	T	2	2
TRAK2	66008	broad.mit.edu	37	2	202250994	202250994	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202250994G>T	uc002uyb.3	-	14	2356	c.1910C>A	c.(1909-1911)CCA>CAA	p.P637Q		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	637				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	202250994	202250994	16994	2	G	T	T	47	47	TRAK2	T	2	2
PARD3B	117583	broad.mit.edu	37	2	206305231	206305231	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206305231G>T	uc002var.1	+	20	3086	c.2879G>T	c.(2878-2880)CGG>CTG	p.R960L	PARD3B_uc002vao.1_Intron|PARD3B_uc002vap.1_Missense_Mutation_p.R898L|PARD3B_uc002vaq.1_Missense_Mutation_p.R891L	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	960					cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)														---	---	---	---	capture		Missense_Mutation	SNP	206305231	206305231	11861	2	G	T	T	39	39	PARD3B	T	1	1
ABCA12	26154	broad.mit.edu	37	2	215843761	215843761	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215843761G>A	uc002vew.2	-	32	4964	c.4744C>T	c.(4744-4746)CCA>TCA	p.P1582S	ABCA12_uc002vev.2_Missense_Mutation_p.P1264S|ABCA12_uc010zjn.1_Missense_Mutation_p.P509S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1582					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)														---	---	---	---	capture		Missense_Mutation	SNP	215843761	215843761	31	2	G	A	A	41	41	ABCA12	A	2	2
TNS1	7145	broad.mit.edu	37	2	218750479	218750479	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218750479C>A	uc002vgt.2	-	13	1127	c.729G>T	c.(727-729)AAG>AAT	p.K243N	TNS1_uc002vgr.2_Missense_Mutation_p.K243N|TNS1_uc002vgs.2_Missense_Mutation_p.K243N|TNS1_uc010zjv.1_Missense_Mutation_p.K243N|TNS1_uc010fvj.1_Missense_Mutation_p.K311N|TNS1_uc010fvk.1_Missense_Mutation_p.K368N|TNS1_uc002vgu.3_Missense_Mutation_p.K274N|TNS1_uc010fvi.1_Translation_Start_Site	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	243	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)														---	---	---	---	capture		Missense_Mutation	SNP	218750479	218750479	16884	2	C	A	A	24	24	TNS1	A	2	2
CYP27A1	1593	broad.mit.edu	37	2	219679120	219679120	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219679120C>A	uc002viz.3	+	7	1636	c.1202C>A	c.(1201-1203)CCC>CAC	p.P401H		NM_000784	NP_000775	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A,	401					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)													---	---	---	---	capture		Missense_Mutation	SNP	219679120	219679120	4323	2	C	A	A	22	22	CYP27A1	A	2	2
CCDC108	255101	broad.mit.edu	37	2	219892700	219892700	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219892700G>T	uc002vjl.1	-	13	1967	c.1883C>A	c.(1882-1884)CCT>CAT	p.P628H	CCDC108_uc010fwa.1_Missense_Mutation_p.P71H|CCDC108_uc010zkp.1_Missense_Mutation_p.P617H|CCDC108_uc010zkq.1_Missense_Mutation_p.P563H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108 isoform 1	628						integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	219892700	219892700	2863	2	G	T	T	35	35	CCDC108	T	2	2
STK16	8576	broad.mit.edu	37	2	220112237	220112237	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220112237C>A	uc002vko.2	+	5	698	c.541C>A	c.(541-543)CGC>AGC	p.R181S	GLB1L_uc002vkm.2_5'Flank|GLB1L_uc002vkn.2_5'Flank|STK16_uc002vks.2_Missense_Mutation_p.R63S|STK16_uc010zky.1_Missense_Mutation_p.R181S|STK16_uc010fwf.2_Missense_Mutation_p.R181S|STK16_uc002vkp.2_Missense_Mutation_p.R181S|STK16_uc002vkr.2_Missense_Mutation_p.R114S|STK16_uc002vkq.2_Missense_Mutation_p.R226S	NM_001008910	NP_001008910	O75716	STK16_HUMAN	serine/threonine kinase 16	181	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	220112237	220112237	15809	2	C	A	A	23	23	STK16	A	1	1
RHBDD1	84236	broad.mit.edu	37	2	227773574	227773574	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227773574A>C	uc002voi.2	+	5	813	c.692A>C	c.(691-693)CAA>CCA	p.Q231P	RHBDD1_uc010fxc.2_Missense_Mutation_p.Q231P|RHBDD1_uc002voj.2_Missense_Mutation_p.Q62P	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	231						integral to membrane	serine-type endopeptidase activity			ovary(1)	1		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)														---	---	---	---	capture		Missense_Mutation	SNP	227773574	227773574	13791	2	A	C	C	5	5	RHBDD1	C	4	4
SPHKAP	80309	broad.mit.edu	37	2	228884383	228884383	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228884383G>T	uc002vpq.2	-	7	1234	c.1187C>A	c.(1186-1188)GCA>GAA	p.A396E	SPHKAP_uc002vpp.2_Missense_Mutation_p.A396E|SPHKAP_uc010zlx.1_Missense_Mutation_p.A396E	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	396						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	228884383	228884383	15560	2	G	T	T	46	46	SPHKAP	T	2	2
SPHKAP	80309	broad.mit.edu	37	2	228996713	228996713	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228996713T>C	uc002vpq.2	-	2	168	c.121A>G	c.(121-123)ATC>GTC	p.I41V	SPHKAP_uc002vpp.2_Missense_Mutation_p.I41V|SPHKAP_uc010zlx.1_Missense_Mutation_p.I41V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	41						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	228996713	228996713	15560	2	T	C	C	51	51	SPHKAP	C	4	4
ALPP	250	broad.mit.edu	37	2	233245354	233245354	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233245354T>G	uc002vsq.2	+	8	1052	c.887T>G	c.(886-888)ATG>AGG	p.M296R	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	296						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(1)	1		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)														---	---	---	---	capture		Missense_Mutation	SNP	233245354	233245354	551	2	T	G	G	51	51	ALPP	G	4	4
UGT1A3	54659	broad.mit.edu	37	2	234638577	234638577	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234638577A>G	uc002vuy.2	+	1	805	c.805A>G	c.(805-807)ATC>GTC	p.I269V	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.I269V	NM_019093	NP_061966	P35503	UD13_HUMAN	UDP glycosyltransferase 1 family, polypeptide A3	269					flavonoid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---	capture		Missense_Mutation	SNP	234638577	234638577	17504	2	A	G	G	4	4	UGT1A3	G	4	4
COL6A3	1293	broad.mit.edu	37	2	238277716	238277716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238277716G>A	uc002vwl.2	-	10	4675	c.4390C>T	c.(4390-4392)CGA>TGA	p.R1464*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1258*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R857*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	1464	VWFA 8.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---	capture		Nonsense_Mutation	SNP	238277716	238277716	3839	2	G	A	A	37	37	COL6A3	A	5	1
FARP2	9855	broad.mit.edu	37	2	242407665	242407665	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242407665G>A	uc002wbi.1	+	18	2121	c.2004G>A	c.(2002-2004)AAG>AAA	p.K668K		NM_014808	NP_055623	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	668	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)														---	---	---	---	capture		Silent	SNP	242407665	242407665	5913	2	G	A	A	35	35	FARP2	A	2	2
SIRPG	55423	broad.mit.edu	37	20	1616857	1616857	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1616857G>C	uc002wfm.1	-	3	790	c.725C>G	c.(724-726)GCC>GGC	p.A242G	SIRPG_uc002wfn.1_Missense_Mutation_p.A242G|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	242	Extracellular (Potential).|Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	1616857	1616857	14831	20	G	C	C	42	42	SIRPG	C	3	3
SIRPA	140885	broad.mit.edu	37	20	1915374	1915374	+	Nonsense_Mutation	SNP	G	T	T	rs141454528		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:1915374G>T	uc002wfq.2	+	8	1600	c.1240G>T	c.(1240-1242)GAG>TAG	p.E414*	SIRPA_uc010zps.1_Nonsense_Mutation_p.E394*|SIRPA_uc002wfr.2_Nonsense_Mutation_p.E414*|SIRPA_uc002wfs.2_Nonsense_Mutation_p.E414*|SIRPA_uc002wft.2_Nonsense_Mutation_p.E414*	NM_001040022	NP_001035111	P78324	SHPS1_HUMAN	signal-regulatory protein alpha precursor	414	Cytoplasmic (Potential).				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			ovary(1)	1				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)														---	---	---	---	capture		Nonsense_Mutation	SNP	1915374	1915374	14827	20	G	T	T	37	37	SIRPA	T	5	1
SLC4A11	83959	broad.mit.edu	37	20	3218266	3218266	+	Silent	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3218266A>G	uc002wig.2	-	1	108	c.60T>C	c.(58-60)CAT>CAC	p.H20H	SLC4A11_uc010zqe.1_Intron|SLC4A11_uc002wih.2_Intron|SLC4A11_uc010zqf.1_Intron	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	20	Cytoplasmic (Potential).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	3218266	3218266	15149	20	A	G	G	8	8	SLC4A11	G	4	4
HSPA12B	116835	broad.mit.edu	37	20	3725561	3725561	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3725561C>A	uc002wjd.2	+	5	382	c.279C>A	c.(277-279)GGC>GGA	p.G93G	HSPA12B_uc010zqi.1_Silent_p.G93G|HSPA12B_uc002wje.2_Silent_p.G6G|HSPA12B_uc010zqj.1_5'UTR	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	93							ATP binding				0																		---	---	---	---	capture		Silent	SNP	3725561	3725561	7704	20	C	A	A	27	27	HSPA12B	A	1	1
PRNP	5621	broad.mit.edu	37	20	4680514	4680514	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4680514C>A	uc002wku.2	+	2	1011	c.648C>A	c.(646-648)ACC>ACA	p.T216T	PRNP_uc002wkv.2_Silent_p.T216T|PRNP_uc002wkw.2_Silent_p.T216T|PRNP_uc002wkx.2_Silent_p.T216T|PRNP_uc002wkt.1_Silent_p.T186T|PRNP_uc002wky.2_Silent_p.T216T|PRNP_uc010gbe.1_Silent_p.T216T	NM_001080122	NP_001073591	P04156	PRIO_HUMAN	prion protein preproprotein	216	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(1)	1					Tetracycline(DB00759)													---	---	---	---	capture		Silent	SNP	4680514	4680514	12987	20	C	A	A	22	22	PRNP	A	2	2
RALGAPA2	57186	broad.mit.edu	37	20	20493389	20493389	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20493389G>C	uc002wrz.2	-	32	4767	c.4624C>G	c.(4624-4626)CTA>GTA	p.L1542V	RALGAPA2_uc010gcx.2_Missense_Mutation_p.L1246V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.L990V|RALGAPA2_uc002wsa.1_Missense_Mutation_p.L314V	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	akt substrate AS250	1542					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	20493389	20493389	13474	20	G	C	C	33	33	RALGAPA2	C	3	3
PAX1	5075	broad.mit.edu	37	20	21687610	21687610	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:21687610C>A	uc002wsj.2	+	2	875	c.821C>A	c.(820-822)CCG>CAG	p.P274Q	PAX1_uc010zsl.1_Missense_Mutation_p.P274Q|PAX1_uc010zsm.1_Missense_Mutation_p.P250Q	NM_006192	NP_006183	P15863	PAX1_HUMAN	paired box 1	274					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			upper_aerodigestive_tract(1)|kidney(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	21687610	21687610	11898	20	C	A	A	23	23	PAX1	A	1	1
TMEM90B	79953	broad.mit.edu	37	20	24523840	24523840	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:24523840G>C	uc002wtw.1	+	2	740	c.107G>C	c.(106-108)AGA>ACA	p.R36T		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	transmembrane protein 90B	36	Cytoplasmic (Potential).				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	24523840	24523840	16759	20	G	C	C	33	33	TMEM90B	C	3	3
ZNF337	26152	broad.mit.edu	37	20	25656728	25656728	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25656728G>A	uc002wva.2	-	4	1718	c.1196C>T	c.(1195-1197)TCA>TTA	p.S399L	uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.S367L|ZNF337_uc002wvb.2_Missense_Mutation_p.S399L|ZNF337_uc002wvc.2_Missense_Mutation_p.S399L	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	25656728	25656728	18445	20	G	A	A	45	45	ZNF337	A	2	2
FOXS1	2307	broad.mit.edu	37	20	30433241	30433241	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30433241C>A	uc002wwt.1	-	1	180	c.105G>T	c.(103-105)CCG>CCT	p.P35P		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	35	Fork-head.				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	30433241	30433241	6281	20	C	A	A	23	23	FOXS1	A	1	1
CHMP4B	128866	broad.mit.edu	37	20	32439921	32439921	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:32439921G>T	uc002xaa.2	+	4	678	c.522G>T	c.(520-522)GAG>GAT	p.E174D		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	chromatin modifying protein 4B	174	Potential.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	32439921	32439921	3491	20	G	T	T	35	35	CHMP4B	T	2	2
MYH7B	57644	broad.mit.edu	37	20	33575001	33575001	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33575001A>G	uc002xbi.1	+	14	1276	c.1184A>G	c.(1183-1185)TAT>TGT	p.Y395C		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	353	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---	capture		Missense_Mutation	SNP	33575001	33575001	10435	20	A	G	G	16	16	MYH7B	G	4	4
FAM83D	81610	broad.mit.edu	37	20	37580566	37580566	+	Silent	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37580566T>C	uc002xjg.2	+	4	1292	c.1251T>C	c.(1249-1251)ATT>ATC	p.I417I		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	387					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Silent	SNP	37580566	37580566	5862	20	T	C	C	63	63	FAM83D	C	4	4
HNF4A	3172	broad.mit.edu	37	20	43043164	43043164	+	Silent	SNP	C	A	A	rs146307320		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43043164C>A	uc002xma.2	+	5	599	c.510C>A	c.(508-510)TCC>TCA	p.S170S	HNF4A_uc002xlt.2_Silent_p.S148S|HNF4A_uc002xlu.2_Silent_p.S148S|HNF4A_uc002xlv.2_Silent_p.S148S|HNF4A_uc002xly.2_Silent_p.S170S|HNF4A_uc002xlz.2_Silent_p.S170S|HNF4A_uc010ggq.2_Silent_p.S163S	NM_000457	NP_000448	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform b	170					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---	capture		Silent	SNP	43043164	43043164	7545	20	C	A	A	23	23	HNF4A	A	1	1
MATN4	8785	broad.mit.edu	37	20	43932922	43932922	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43932922C>A	uc002xnn.2	-	3	776	c.589G>T	c.(589-591)GAG>TAG	p.E197*	MATN4_uc002xno.2_Nonsense_Mutation_p.E197*|MATN4_uc002xnp.2_Nonsense_Mutation_p.E197*|MATN4_uc010zwr.1_Nonsense_Mutation_p.E145*|MATN4_uc002xnr.1_Nonsense_Mutation_p.E197*|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	197	VWFA 1.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Nonsense_Mutation	SNP	43932922	43932922	9720	20	C	A	A	32	32	MATN4	A	5	2
SLC35C2	51006	broad.mit.edu	37	20	44986276	44986276	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44986276C>A	uc002xro.2	-	3	798	c.257G>T	c.(256-258)AGA>ATA	p.R86I	SLC35C2_uc002xrp.2_Missense_Mutation_p.R86I|SLC35C2_uc002xrq.2_Missense_Mutation_p.R86I|SLC35C2_uc002xrr.2_Missense_Mutation_p.R86I|SLC35C2_uc010zxn.1_5'UTR|SLC35C2_uc010zxo.1_5'UTR|SLC35C2_uc010zxp.1_Missense_Mutation_p.R115I	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	solute carrier family 35, member C2 isoform a	86					transport	integral to membrane				ovary(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Missense_Mutation	SNP	44986276	44986276	15077	20	C	A	A	32	32	SLC35C2	A	2	2
NCOA3	8202	broad.mit.edu	37	20	46254215	46254215	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46254215T>G	uc002xtk.2	+	5	552	c.347T>G	c.(346-348)CTT>CGT	p.L116R	NCOA3_uc010ght.1_Missense_Mutation_p.L116R|NCOA3_uc002xtl.2_Missense_Mutation_p.L116R|NCOA3_uc002xtm.2_Missense_Mutation_p.L116R|NCOA3_uc002xtn.2_Missense_Mutation_p.L116R|NCOA3_uc010zyc.1_5'Flank	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	116	PAS.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	46254215	46254215	10629	20	T	G	G	56	56	NCOA3	G	4	4
TSHZ2	128553	broad.mit.edu	37	20	51870592	51870592	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:51870592C>A	uc002xwo.2	+	2	1551	c.595C>A	c.(595-597)CGA>AGA	p.R199R		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	199					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)															---	---	---	---	capture		Silent	SNP	51870592	51870592	17175	20	C	A	A	23	23	TSHZ2	A	1	1
TSHZ2	128553	broad.mit.edu	37	20	51872343	51872343	+	Silent	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:51872343T>C	uc002xwo.2	+	2	3302	c.2346T>C	c.(2344-2346)TCT>TCC	p.S782S		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	782					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)															---	---	---	---	capture		Silent	SNP	51872343	51872343	17175	20	T	C	C	56	56	TSHZ2	C	4	4
SPO11	23626	broad.mit.edu	37	20	55906898	55906898	+	Silent	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55906898T>C	uc002xye.2	+	2	234	c.141T>C	c.(139-141)GTT>GTC	p.V47V	SPO11_uc002xyf.2_Intron	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	meiotic recombination protein SPO11 isoform a	47					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			breast(2)|skin(1)	3	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)										Editing_and_processing_nucleases					---	---	---	---	capture		Silent	SNP	55906898	55906898	15590	20	T	C	C	62	62	SPO11	C	4	4
RAE1	8480	broad.mit.edu	37	20	55948535	55948535	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55948535G>T	uc002xyg.2	+	9	988	c.647G>T	c.(646-648)CGG>CTG	p.R216L	RAE1_uc010gis.1_Missense_Mutation_p.R169L|RAE1_uc010git.1_Missense_Mutation_p.R216L|RAE1_uc002xyh.2_Missense_Mutation_p.R216L|RAE1_uc002xyi.2_Missense_Mutation_p.R216L	NM_003610	NP_003601	P78406	RAE1L_HUMAN	RAE1 (RNA export 1, S.pombe) homolog	216					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding				0	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)															---	---	---	---	capture		Missense_Mutation	SNP	55948535	55948535	13458	20	G	T	T	39	39	RAE1	T	1	1
ZNF831	128611	broad.mit.edu	37	20	57768671	57768671	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57768671C>T	uc002yan.2	+	1	2597	c.2597C>T	c.(2596-2598)CCA>CTA	p.P866L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	866						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---	capture		Missense_Mutation	SNP	57768671	57768671	18784	20	C	T	T	21	21	ZNF831	T	2	2
CDH26	60437	broad.mit.edu	37	20	58581786	58581786	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58581786A>G	uc002ybe.2	+	17	2539	c.2239A>G	c.(2239-2241)ATG>GTG	p.M747V	CDH26_uc002ybf.1_Missense_Mutation_p.M286V|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.M238V|CDH26_uc002ybh.2_Missense_Mutation_p.M80V|CDH26_uc002ybi.2_Missense_Mutation_p.M39V	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	706	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)															---	---	---	---	capture		Missense_Mutation	SNP	58581786	58581786	3239	20	A	G	G	4	4	CDH26	G	4	4
CDH4	1002	broad.mit.edu	37	20	60504842	60504842	+	Silent	SNP	G	A	A	rs151300553		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60504842G>A	uc002ybn.1	+	13	2195	c.2181G>A	c.(2179-2181)GCG>GCA	p.A727A	CDH4_uc002ybp.1_Silent_p.A653A	NM_001794	NP_001785	P55283	CADH4_HUMAN	cadherin 4, type 1 preproprotein	727	Extracellular (Potential).				adherens junction organization|cell junction assembly		calcium ion binding			lung(3)|ovary(2)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)															---	---	---	---	capture		Silent	SNP	60504842	60504842	3241	20	G	A	A	39	39	CDH4	A	1	1
LAMA5	3911	broad.mit.edu	37	20	60885614	60885614	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60885614G>A	uc002ycq.2	-	76	10528	c.10461C>T	c.(10459-10461)TTC>TTT	p.F3487F		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3487	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---	capture		Silent	SNP	60885614	60885614	8932	20	G	A	A	45	45	LAMA5	A	2	2
SLCO4A1	28231	broad.mit.edu	37	20	61288084	61288084	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61288084C>T	uc002ydb.1	+	2	483	c.278C>T	c.(277-279)CCG>CTG	p.P93L	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	93	Cytoplasmic (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)															---	---	---	---	capture		Missense_Mutation	SNP	61288084	61288084	15226	20	C	T	T	23	23	SLCO4A1	T	1	1
DIDO1	11083	broad.mit.edu	37	20	61525406	61525406	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61525406C>T	uc002ydr.1	-	12	2977	c.2713G>A	c.(2713-2715)GAG>AAG	p.E905K	DIDO1_uc002yds.1_Missense_Mutation_p.E905K|DIDO1_uc002ydt.1_Missense_Mutation_p.E905K|DIDO1_uc002ydu.1_Missense_Mutation_p.E905K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	905					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	61525406	61525406	4701	20	C	T	T	30	30	DIDO1	T	2	2
RNF160	26046	broad.mit.edu	37	21	30304888	30304888	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30304888C>A	uc002ymr.2	-	28	5125	c.5112G>T	c.(5110-5112)CTG>CTT	p.L1704L		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1658							ligase activity|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	30304888	30304888	13932	21	C	A	A	21	21	RNF160	A	2	2
ATP5O	539	broad.mit.edu	37	21	35279677	35279677	+	Nonsense_Mutation	SNP	C	A	A	rs138939112		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35279677C>A	uc002ytl.2	-	5	500	c.409G>T	c.(409-411)GGA>TGA	p.G137*	DONSON_uc002ysn.1_Nonsense_Mutation_p.G7*	NM_001697	NP_001688	P48047	ATPO_HUMAN	mitochondrial ATP synthase, O subunit precursor	137					ATP catabolic process|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex|plasma membrane|proton-transporting ATP synthase complex, catalytic core F(1)	drug binding|hydrogen ion transporting ATP synthase activity, rotational mechanism			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	35279677	35279677	1181	21	C	A	A	23	23	ATP5O	A	5	1
RCAN1	1827	broad.mit.edu	37	21	35893803	35893803	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35893803C>A	uc002yue.2	-	3	652	c.580G>T	c.(580-582)GGG>TGG	p.G194W	RCAN1_uc002yuc.2_Missense_Mutation_p.G113W|RCAN1_uc002yud.2_Missense_Mutation_p.G59W|RCAN1_uc002yub.2_Missense_Mutation_p.G139W|RCAN1_uc011adx.1_Missense_Mutation_p.G139W	NM_004414	NP_004405	P53805	RCAN1_HUMAN	calcipressin 1 isoform a	194					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	35893803	35893803	13637	21	C	A	A	22	22	RCAN1	A	2	2
TRPM2	7226	broad.mit.edu	37	21	45861595	45861595	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45861595G>T	uc002zet.1	+	33	4620	c.4407G>T	c.(4405-4407)TCG>TCT	p.S1469S	TRPM2_uc002zeu.1_Silent_p.S1469S|TRPM2_uc002zew.1_Silent_p.S1469S|TRPM2_uc010gpt.1_Silent_p.S1519S|TRPM2_uc002zex.1_Silent_p.S1255S|TRPM2_uc002zey.1_Silent_p.S948S|TRPM2_uc011aff.1_Silent_p.S150S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	1469	Nudix hydrolase.|Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Silent	SNP	45861595	45861595	17137	21	G	T	T	39	39	TRPM2	T	1	1
TXNRD2	10587	broad.mit.edu	37	22	19918585	19918585	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19918585C>A	uc011ahc.1	-	2	173	c.140G>T	c.(139-141)GGG>GTG	p.G47V	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Missense_Mutation_p.G46V|TXNRD2_uc010grv.1_Missense_Mutation_p.G47V|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqs.2_Missense_Mutation_p.G15V	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	47	FAD (By similarity).				cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)																	---	---	---	---	capture		Missense_Mutation	SNP	19918585	19918585	17364	22	C	A	A	22	22	TXNRD2	A	2	2
KLHL22	84861	broad.mit.edu	37	22	20812204	20812204	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20812204C>A	uc002zsl.1	-	5	1305	c.1196G>T	c.(1195-1197)AGG>ATG	p.R399M	KLHL22_uc011ahr.1_Missense_Mutation_p.R256M|KLHL22_uc002zsm.1_Missense_Mutation_p.R399M	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	399	Kelch 2.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---	capture		Missense_Mutation	SNP	20812204	20812204	8689	22	C	A	A	24	24	KLHL22	A	2	2
SLC2A11	66035	broad.mit.edu	37	22	24225966	24225966	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24225966T>C	uc002zyn.3	+	9	1091	c.992T>C	c.(991-993)GTA>GCA	p.V331A	SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.3_Missense_Mutation_p.V338A|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Intron|SLC2A11_uc002zyp.3_Missense_Mutation_p.V334A	NM_001024938	NP_001020109	Q9BYW1	GTR11_HUMAN	glucose transporter protein 10 isoform c	331	Helical; Name=8; (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	24225966	24225966	15037	22	T	C	C	57	57	SLC2A11	C	4	4
CABIN1	23523	broad.mit.edu	37	22	24445595	24445595	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24445595G>T	uc002zzi.1	+	7	696	c.569G>T	c.(568-570)CGG>CTG	p.R190L	CABIN1_uc002zzj.1_Missense_Mutation_p.R190L|CABIN1_uc002zzl.1_Missense_Mutation_p.R190L|CABIN1_uc010guk.1_Missense_Mutation_p.R145L|CABIN1_uc002zzk.1_Missense_Mutation_p.R145L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	190					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	24445595	24445595	2644	22	G	T	T	39	39	CABIN1	T	1	1
ADRBK2	157	broad.mit.edu	37	22	26091098	26091098	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26091098C>A	uc003abx.3	+	13	1224	c.1077C>A	c.(1075-1077)CCC>CCA	p.P359P	ADRBK2_uc010gux.2_Silent_p.P359P|ADRBK2_uc003abw.2_Silent_p.P246P|ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	359	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---	capture		Silent	SNP	26091098	26091098	345	22	C	A	A	23	23	ADRBK2	A	1	1
ADRBK2	157	broad.mit.edu	37	22	26114244	26114244	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26114244G>T	uc003abx.3	+	19	1834	c.1687G>T	c.(1687-1689)GGG>TGG	p.G563W	ADRBK2_uc003aby.3_RNA	NM_005160	NP_005151	P35626	ARBK2_HUMAN	beta-adrenergic receptor kinase 2	563	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7					Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	26114244	26114244	345	22	G	T	T	39	39	ADRBK2	T	1	1
NEFH	4744	broad.mit.edu	37	22	29885371	29885371	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29885371C>A	uc003afo.2	+	4	1813	c.1742C>A	c.(1741-1743)CCC>CAC	p.P581H	NEFH_uc003afp.2_Intron	NM_021076	NP_066554	P12036	NFH_HUMAN	neurofilament, heavy polypeptide 200kDa	581	7.|30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament					0																		---	---	---	---	capture		Missense_Mutation	SNP	29885371	29885371	10713	22	C	A	A	22	22	NEFH	A	2	2
RFPL2	10739	broad.mit.edu	37	22	32588926	32588926	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32588926C>A	uc003amg.3	-	4	1455	c.519G>T	c.(517-519)AAG>AAT	p.K173N	RFPL2_uc003ame.3_Missense_Mutation_p.K112N|RFPL2_uc003amf.3_Missense_Mutation_p.K83N|RFPL2_uc003amh.3_Missense_Mutation_p.K83N	NM_001098527	NP_001091997	O75678	RFPL2_HUMAN	ret finger protein-like 2 isoform 2	173	B30.2/SPRY.						zinc ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	32588926	32588926	13725	22	C	A	A	32	32	RFPL2	A	2	2
MCM5	4174	broad.mit.edu	37	22	35796559	35796559	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35796559G>T	uc003anu.3	+	2	222	c.128G>T	c.(127-129)CGA>CTA	p.R43L	MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R43L	NM_006739	NP_006730	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	43					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	35796559	35796559	9779	22	G	T	T	37	37	MCM5	T	1	1
RASD2	23551	broad.mit.edu	37	22	35943063	35943063	+	Silent	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:35943063C>G	uc003anx.2	+	2	412	c.207C>G	c.(205-207)CTC>CTG	p.L69L	RASD2_uc003any.2_Silent_p.L69L	NM_014310	NP_055125	Q96D21	RHES_HUMAN	RASD family, member 2 precursor	69					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			lung(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	35943063	35943063	13528	22	C	G	G	31	31	RASD2	G	3	3
APOL5	80831	broad.mit.edu	37	22	36122449	36122449	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36122449G>C	uc003aof.2	+	3	334	c.334G>C	c.(334-336)GAG>CAG	p.E112Q		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	apolipoprotein L5	112					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	36122449	36122449	820	22	G	C	C	45	45	APOL5	C	3	3
DDX17	10521	broad.mit.edu	37	22	38883998	38883998	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38883998G>T	uc003avy.3	-	12	1673	c.1570C>A	c.(1570-1572)CCA>ACA	p.P524T	DDX17_uc003avw.3_5'UTR|DDX17_uc010gxp.2_5'UTR|DDX17_uc003avx.3_Missense_Mutation_p.P524T	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	DEAD box polypeptide 17 isoform 3	445	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			skin(3)|upper_aerodigestive_tract(1)	4	Melanoma(58;0.0286)																	---	---	---	---	capture		Missense_Mutation	SNP	38883998	38883998	4515	22	G	T	T	43	43	DDX17	T	2	2
RBX1	9978	broad.mit.edu	37	22	41347431	41347431	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41347431C>A	uc003azk.2	+	1	47	c.29C>A	c.(28-30)CCG>CAG	p.P10Q	XPNPEP3_uc011aoy.1_Intron	NM_014248	NP_055063	P62877	RBX1_HUMAN	ring-box 1	10					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	41347431	41347431	13634	22	C	A	A	23	23	RBX1	A	1	1
EP300	2033	broad.mit.edu	37	22	41551116	41551116	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41551116C>A	uc003azl.3	+	17	3655	c.3260C>A	c.(3259-3261)CCT>CAT	p.P1087H		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1087	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64								T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	41551116	41551116	5341	22	C	A	A	24	24	EP300	A	2	2
TCF20	6942	broad.mit.edu	37	22	42608617	42608617	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42608617G>T	uc003bcj.1	-	1	2829	c.2695C>A	c.(2695-2697)CGT>AGT	p.R899S	TCF20_uc003bck.1_Missense_Mutation_p.R899S|TCF20_uc003bnt.2_Missense_Mutation_p.R899S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	transcription factor 20 isoform 1	899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	42608617	42608617	16216	22	G	T	T	39	39	TCF20	T	1	1
CELSR1	9620	broad.mit.edu	37	22	46835291	46835291	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46835291C>G	uc003bhw.1	-	3	4201	c.4201G>C	c.(4201-4203)GAT>CAT	p.D1401H		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1401	Extracellular (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	46835291	46835291	3354	22	C	G	G	30	30	CELSR1	G	3	3
PLXNB2	23654	broad.mit.edu	37	22	50728775	50728775	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50728775G>A	uc003bkv.3	-	3	345	c.239C>T	c.(238-240)CCG>CTG	p.P80L		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	80	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	50728775	50728775	12550	22	G	A	A	39	39	PLXNB2	A	1	1
JAGN1	84522	broad.mit.edu	37	3	9934941	9934941	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9934941C>A	uc003btt.3	+	2	568	c.432C>A	c.(430-432)GCC>GCA	p.A144A	CIDEC_uc003bto.2_Intron	NM_032492	NP_115881	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1	144	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane				ovary(1)	1	Medulloblastoma(99;0.227)																	---	---	---	---	capture		Silent	SNP	9934941	9934941	8240	3	C	A	A	23	23	JAGN1	A	1	1
BSN	8927	broad.mit.edu	37	3	49688509	49688509	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49688509G>T	uc003cxe.3	+	4	2097	c.1983G>T	c.(1981-1983)GCG>GCT	p.A661A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	661					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---	capture		Silent	SNP	49688509	49688509	1561	3	G	T	T	39	39	BSN	T	1	1
RAD54L2	23132	broad.mit.edu	37	3	51696649	51696649	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51696649C>A	uc011bdt.1	+	22	3742	c.3617C>A	c.(3616-3618)CCG>CAG	p.P1206Q	RAD54L2_uc003dbh.2_Missense_Mutation_p.P795Q|RAD54L2_uc011bdu.1_Missense_Mutation_p.P900Q|RAD54L2_uc003dbj.2_Missense_Mutation_p.P532Q	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1206						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)														---	---	---	---	capture		Missense_Mutation	SNP	51696649	51696649	13454	3	C	A	A	23	23	RAD54L2	A	1	1
RAD54L2	23132	broad.mit.edu	37	3	51697208	51697208	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51697208C>A	uc011bdt.1	+	22	4301	c.4176C>A	c.(4174-4176)TCC>TCA	p.S1392S	RAD54L2_uc003dbh.2_Silent_p.S981S|RAD54L2_uc011bdu.1_Silent_p.S1086S|RAD54L2_uc003dbj.2_Silent_p.S718S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	1392						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)														---	---	---	---	capture		Silent	SNP	51697208	51697208	13454	3	C	A	A	23	23	RAD54L2	A	1	1
BBX	56987	broad.mit.edu	37	3	107492435	107492435	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:107492435C>A	uc010hpr.2	+	11	2194	c.1867C>A	c.(1867-1869)CTG>ATG	p.L623M	BBX_uc003dwk.3_Missense_Mutation_p.L623M|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.L644M|BBX_uc003dwm.3_Missense_Mutation_p.L623M|BBX_uc003dwo.3_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	HMG-BOX transcription factor BBX isoform 1	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(3)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(3;0.112)															---	---	---	---	capture		Missense_Mutation	SNP	107492435	107492435	1364	3	C	A	A	24	24	BBX	A	2	2
MYH15	22989	broad.mit.edu	37	3	108147433	108147433	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108147433T>A	uc003dxa.1	-	28	3725	c.3668A>T	c.(3667-3669)CAG>CTG	p.Q1223L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	myosin, heavy polypeptide 15	1223	Potential.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(5)|central_nervous_system(2)	7																		---	---	---	---	capture		Missense_Mutation	SNP	108147433	108147433	10429	3	T	A	A	55	55	MYH15	A	4	4
DPPA2	151871	broad.mit.edu	37	3	109023411	109023411	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109023411C>A	uc003dxo.2	-	7	1012	c.765G>T	c.(763-765)AGG>AGT	p.R255S		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	255						nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	109023411	109023411	4918	3	C	A	A	30	30	DPPA2	A	2	2
ABHD10	55347	broad.mit.edu	37	3	111698038	111698038	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111698038C>G	uc003dyk.3	+	1	211	c.130C>G	c.(130-132)CGG>GGG	p.R44G	ABHD10_uc011bhq.1_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	44						mitochondrion	serine-type peptidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	111698038	111698038	75	3	C	G	G	19	19	ABHD10	G	3	3
TMPRSS7	344805	broad.mit.edu	37	3	111799769	111799769	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111799769G>T	uc010hqb.2	+	16	2162	c.1992G>T	c.(1990-1992)TCG>TCT	p.S664S	TMPRSS7_uc011bhr.1_Silent_p.S519S	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	790	Extracellular (Potential).|Peptidase S1.	Charge relay system (By similarity).			proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2																		---	---	---	---	capture		Silent	SNP	111799769	111799769	16793	3	G	T	T	39	39	TMPRSS7	T	1	1
SEMA5B	54437	broad.mit.edu	37	3	122645282	122645282	+	Silent	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122645282A>G	uc003efz.1	-	9	1397	c.1093T>C	c.(1093-1095)TTG>CTG	p.L365L	SEMA5B_uc011bju.1_Silent_p.L307L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L365L|SEMA5B_uc010hro.1_Silent_p.L307L|SEMA5B_uc010hrp.1_RNA	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	semaphorin 5B isoform 1	365	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1)	7				GBM - Glioblastoma multiforme(114;0.0367)														---	---	---	---	capture		Silent	SNP	122645282	122645282	14524	3	A	G	G	3	3	SEMA5B	G	4	4
ALG1L	200810	broad.mit.edu	37	3	125651529	125651529	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125651529C>A	uc003eig.1	-	3	288	c.124G>T	c.(124-126)GGA>TGA	p.G42*		NM_001015050	NP_001015050	Q6GMV1	ALG1L_HUMAN	asparagine-linked glycosylation 1-like	42							transferase activity, transferring glycosyl groups				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	125651529	125651529	520	3	C	A	A	21	21	ALG1L	A	5	2
KY	339855	broad.mit.edu	37	3	134323277	134323277	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134323277G>T	uc010hty.2	-	11	1192	c.1130C>A	c.(1129-1131)CCG>CAG	p.P377Q	KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.P356Q	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	377						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	134323277	134323277	8909	3	G	T	T	39	39	KY	T	1	1
SOX14	8403	broad.mit.edu	37	3	137483975	137483975	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137483975G>C	uc003erm.1	+	1	397	c.349G>C	c.(349-351)GGC>CGC	p.G117R		NM_004189	NP_004180	O95416	SOX14_HUMAN	SRY-box 14	117					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	137483975	137483975	15445	3	G	C	C	39	39	SOX14	C	3	3
CLSTN2	64084	broad.mit.edu	37	3	140281797	140281797	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:140281797A>C	uc003etn.2	+	14	2547	c.2357A>C	c.(2356-2358)GAG>GCG	p.E786A		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	786	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		Missense_Mutation	SNP	140281797	140281797	3700	3	A	C	C	11	11	CLSTN2	C	4	4
IGSF10	285313	broad.mit.edu	37	3	151165201	151165201	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151165201G>T	uc011bod.1	-	4	2568	c.2568C>A	c.(2566-2568)CCC>CCA	p.P856P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	856					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Silent	SNP	151165201	151165201	7898	3	G	T	T	47	47	IGSF10	T	2	2
SLITRK3	22865	broad.mit.edu	37	3	164906580	164906580	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906580C>A	uc003fej.3	-	2	2483	c.2039G>T	c.(2038-2040)CGA>CTA	p.R680L	SLITRK3_uc003fek.2_Missense_Mutation_p.R680L	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	680	Cytoplasmic (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	164906580	164906580	15242	3	C	A	A	31	31	SLITRK3	A	1	1
GOLIM4	27333	broad.mit.edu	37	3	167758633	167758633	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167758633C>A	uc003ffe.2	-	7	969	c.625G>T	c.(625-627)GAG>TAG	p.E209*	GOLIM4_uc011bpe.1_Nonsense_Mutation_p.E209*|GOLIM4_uc011bpf.1_Intron|GOLIM4_uc011bpg.1_Intron	NM_014498	NP_055313	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	209	Potential.|Golgi targeting.|Lumenal (Potential).				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(4)|skin(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	167758633	167758633	6839	3	C	A	A	31	31	GOLIM4	A	5	1
SAMD7	344658	broad.mit.edu	37	3	169644749	169644749	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169644749C>G	uc003fgd.2	+	6	966	c.699C>G	c.(697-699)AGC>AGG	p.S233R	SAMD7_uc003fge.2_Missense_Mutation_p.S233R|SAMD7_uc011bpo.1_Missense_Mutation_p.S134R	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	233										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)															---	---	---	---	capture		Missense_Mutation	SNP	169644749	169644749	14304	3	C	G	G	25	25	SAMD7	G	3	3
PRKCI	5584	broad.mit.edu	37	3	170002300	170002300	+	Silent	SNP	G	A	A	rs146346249		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170002300G>A	uc003fgs.2	+	12	1357	c.1119G>A	c.(1117-1119)GGG>GGA	p.G373G		NM_002740	NP_002731	P41743	KPCI_HUMAN	protein kinase C, iota	373	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			lung(2)|ovary(1)|breast(1)|skin(1)	5	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)															---	---	---	---	capture		Silent	SNP	170002300	170002300	12957	3	G	A	A	41	41	PRKCI	A	2	2
FNDC3B	64778	broad.mit.edu	37	3	172058929	172058929	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172058929G>T	uc003fhy.2	+	17	2051	c.1879G>T	c.(1879-1881)GGG>TGG	p.G627W	FNDC3B_uc003fhz.3_Missense_Mutation_p.G627W	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	627	Fibronectin type-III 4.					endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)														---	---	---	---	capture		Missense_Mutation	SNP	172058929	172058929	6212	3	G	T	T	47	47	FNDC3B	T	2	2
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178917478G>A	uc003fjk.2	+	3	510	c.353G>A	c.(352-354)GGT>GAT	p.G118D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(6)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)				57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	178917478	178917478	12337	3	G	A	A	44	44	PIK3CA	A	2	2
ACTL6A	86	broad.mit.edu	37	3	179287884	179287884	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179287884G>T	uc003fjw.2	+	3	305	c.132G>T	c.(130-132)GTG>GTT	p.V44V	ACTL6A_uc003fjx.2_Silent_p.V2V|ACTL6A_uc003fjy.2_Silent_p.V2V	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	44					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---	capture		Silent	SNP	179287884	179287884	199	3	G	T	T	47	47	ACTL6A	T	2	2
C3orf59	151963	broad.mit.edu	37	3	192516254	192516254	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192516254G>T	uc011bsp.1	-	2	1718	c.1397C>A	c.(1396-1398)CCG>CAG	p.P466Q		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	466											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---	capture		Missense_Mutation	SNP	192516254	192516254	2330	3	G	T	T	39	39	C3orf59	T	1	1
ATP13A4	84239	broad.mit.edu	37	3	193120535	193120535	+	Missense_Mutation	SNP	G	T	T	rs149270045	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193120535G>T	uc003ftd.2	-	30	3605	c.3497C>A	c.(3496-3498)CCG>CAG	p.P1166Q	ATP13A4_uc010hzi.2_RNA	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1166	Extracellular (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---	capture		Missense_Mutation	SNP	193120535	193120535	1145	3	G	T	T	39	39	ATP13A4	T	1	1
MUC4	4585	broad.mit.edu	37	3	195515841	195515841	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195515841G>A	uc011bto.1	-	2	3070	c.2610C>T	c.(2608-2610)GGC>GGT	p.G870G	MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.G752G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	875	Ser-rich.				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)														---	---	---	---	capture		Silent	SNP	195515841	195515841	10372	3	G	A	A	46	46	MUC4	A	2	2
RNF168	165918	broad.mit.edu	37	3	196199439	196199439	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196199439T>C	uc003fwq.2	-	6	1505	c.967A>G	c.(967-969)AAA>GAA	p.K323E	RNF168_uc010iah.2_Missense_Mutation_p.K156E|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	323					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)														---	---	---	---	capture		Missense_Mutation	SNP	196199439	196199439	13936	3	T	C	C	62	62	RNF168	C	4	4
RNF212	285498	broad.mit.edu	37	4	1066823	1066823	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1066823C>A	uc003gcj.2	-	10	1063	c.733G>T	c.(733-735)GGG>TGG	p.G245W	RNF212_uc003gch.2_Intron|RNF212_uc003gci.2_Missense_Mutation_p.R227L|RNF212_uc010ibp.2_RNA|RNF212_uc010ibq.2_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	ring finger protein 212 isoform a	245							zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)												OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	1066823	1066823	13954	4	C	A	A	23	23	RNF212	A	1	1
MAN2B2	23324	broad.mit.edu	37	4	6611009	6611009	+	Silent	SNP	C	A	A	rs78726425	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6611009C>A	uc003gjf.1	+	12	2026	c.1990C>A	c.(1990-1992)CGG>AGG	p.R664R	MAN2B2_uc003gje.1_Silent_p.R664R|MAN2B2_uc011bwf.1_Silent_p.R613R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	664					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	6611009	6611009	9600	4	C	A	A	23	23	MAN2B2	A	1	1
NCAPG	64151	broad.mit.edu	37	4	17826672	17826672	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17826672G>A	uc003gpp.2	+	10	1641	c.1465G>A	c.(1465-1467)GAA>AAA	p.E489K	NCAPG_uc011bxj.1_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	489					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	17826672	17826672	10606	4	G	A	A	33	33	NCAPG	A	2	2
DHX15	1665	broad.mit.edu	37	4	24578074	24578074	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24578074G>C	uc003gqx.2	-	2	467	c.299C>G	c.(298-300)TCA>TGA	p.S100*		NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	100					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---	capture		Nonsense_Mutation	SNP	24578074	24578074	4680	4	G	C	C	45	45	DHX15	C	5	3
SLC34A2	10568	broad.mit.edu	37	4	25677904	25677904	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25677904T>A	uc003grr.2	+	13	1687	c.1606T>A	c.(1606-1608)TTC>ATC	p.F536I	SLC34A2_uc003grs.2_Missense_Mutation_p.F535I|SLC34A2_uc010iev.2_Missense_Mutation_p.F535I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	536	Helical; Name=M7; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)																---	---	---	---	capture		Missense_Mutation	SNP	25677904	25677904	15065	4	T	A	A	56	56	SLC34A2	A	4	4
PGM2	55276	broad.mit.edu	37	4	37841695	37841695	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:37841695G>T	uc011byb.1	+	6	606	c.533G>T	c.(532-534)TGG>TTG	p.W178L	PGM2_uc011bya.1_Missense_Mutation_p.W39L|PGM2_uc011byc.1_Missense_Mutation_p.W18L	NM_018290	NP_060760	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	178					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	37841695	37841695	12221	4	G	T	T	47	47	PGM2	T	2	2
UGDH	7358	broad.mit.edu	37	4	39511414	39511414	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39511414C>A	uc003guk.1	-	6	1093	c.777G>T	c.(775-777)CAG>CAT	p.Q259H	UGDH_uc011byp.1_Missense_Mutation_p.Q162H|UGDH_uc003gul.1_Missense_Mutation_p.Q192H	NM_003359	NP_003350	O60701	UGDH_HUMAN	UDP-glucose dehydrogenase	259					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	39511414	39511414	17498	4	C	A	A	32	32	UGDH	A	2	2
YIPF7	285525	broad.mit.edu	37	4	44631420	44631420	+	Silent	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44631420C>G	uc010ifx.1	-	4	515	c.498G>C	c.(496-498)CTG>CTC	p.L166L	YIPF7_uc010ify.1_3'UTR	NM_182592	NP_872398	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	166	Helical; (Potential).					endoplasmic reticulum membrane|integral to membrane					0																		---	---	---	---	capture		Silent	SNP	44631420	44631420	18066	4	C	G	G	21	21	YIPF7	G	3	3
COX7B2	170712	broad.mit.edu	37	4	46736995	46736995	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46736995C>A	uc003gxf.2	-	3	395	c.215G>T	c.(214-216)AGA>ATA	p.R72I	COX7B2_uc010ige.2_RNA	NM_130902	NP_570972	Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2 precursor	72	Mitochondrial intermembrane (By similarity).					integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46736995	46736995	3921	4	C	A	A	32	32	COX7B2	A	2	2
ATP10D	57205	broad.mit.edu	37	4	47548682	47548682	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47548682G>C	uc003gxk.1	+	10	1602	c.1438G>C	c.(1438-1440)GAA>CAA	p.E480Q	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E465Q	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	480	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	47548682	47548682	1137	4	G	C	C	45	45	ATP10D	C	3	3
UGT2B4	7363	broad.mit.edu	37	4	70355231	70355231	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70355231C>A	uc003hek.3	-	3	975	c.928G>T	c.(928-930)GGG>TGG	p.G310W	UGT2B4_uc011cap.1_Missense_Mutation_p.G174W|UGT2B4_uc003hel.3_Missense_Mutation_p.G310W	NM_021139	NP_066962	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2B4 precursor	310					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	70355231	70355231	17519	4	C	A	A	22	22	UGT2B4	A	2	2
EREG	2069	broad.mit.edu	37	4	75246733	75246733	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:75246733C>G	uc003hie.1	+	3	323	c.157C>G	c.(157-159)CAG>GAG	p.Q53E	EREG_uc003hid.2_Missense_Mutation_p.Q47E	NM_001432	NP_001423	O14944	EREG_HUMAN	epiregulin preproprotein	53					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|skin(1)	2			Lung(101;0.196)															---	---	---	---	capture		Missense_Mutation	SNP	75246733	75246733	5413	4	C	G	G	29	29	EREG	G	3	3
NAAA	27163	broad.mit.edu	37	4	76852392	76852392	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76852392C>T	uc003hjb.2	-	4	628	c.564G>A	c.(562-564)AAG>AAA	p.K188K	NAAA_uc003hja.2_Silent_p.K188K|NAAA_uc003hjc.3_Silent_p.K188K|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.K87K	NM_014435	NP_055250	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase isoform 1	188					lipid metabolic process	lysosome	hydrolase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	76852392	76852392	10522	4	C	T	T	20	20	NAAA	T	2	2
HPSE	10855	broad.mit.edu	37	4	84227442	84227442	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84227442G>T	uc003hoj.3	-	9	1219	c.1120C>A	c.(1120-1122)CGA>AGA	p.R374R	HPSE_uc010ika.2_Silent_p.R316R|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_Intron|HPSE_uc011ccs.1_Silent_p.R117R|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Silent_p.R374R	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN	heparanase precursor	374					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)													---	---	---	---	capture		Silent	SNP	84227442	84227442	7636	4	G	T	T	39	39	HPSE	T	1	1
QRFPR	84109	broad.mit.edu	37	4	122301679	122301679	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122301679C>A	uc010inj.1	-	1	503	c.124G>T	c.(124-126)GGA>TGA	p.G42*	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Nonsense_Mutation_p.G42*|QRFPR_uc010inl.1_Nonsense_Mutation_p.G42*	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	42	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	122301679	122301679	13336	4	C	A	A	22	22	QRFPR	A	5	2
TRPC3	7222	broad.mit.edu	37	4	122825537	122825537	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122825537C>A	uc003ieg.2	-	8	2267	c.2193G>T	c.(2191-2193)ATG>ATT	p.M731I	TRPC3_uc010inr.2_Missense_Mutation_p.M603I|TRPC3_uc003ief.2_Missense_Mutation_p.M658I|TRPC3_uc011cgl.1_Missense_Mutation_p.M395I	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	646	Helical; (Potential).				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	122825537	122825537	17130	4	C	A	A	21	21	TRPC3	A	2	2
FAT4	79633	broad.mit.edu	37	4	126237610	126237610	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126237610C>A	uc003ifj.3	+	1	44	c.44C>A	c.(43-45)CCG>CAG	p.P15Q		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	15					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	126237610	126237610	5928	4	C	A	A	23	23	FAT4	A	1	1
PCDH10	57575	broad.mit.edu	37	4	134072555	134072555	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:134072555C>A	uc003iha.2	+	1	2086	c.1260C>A	c.(1258-1260)CCC>CCA	p.P420P	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Silent_p.P420P	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	420	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)														---	---	---	---	capture		Silent	SNP	134072555	134072555	11927	4	C	A	A	22	22	PCDH10	A	2	2
TBC1D9	23158	broad.mit.edu	37	4	141592006	141592006	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141592006C>T	uc010ioj.2	-	7	1406	c.1134G>A	c.(1132-1134)ATG>ATA	p.M378I		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	378						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)																---	---	---	---	capture		Missense_Mutation	SNP	141592006	141592006	16153	4	C	T	T	29	29	TBC1D9	T	2	2
TMEM144	55314	broad.mit.edu	37	4	159136383	159136383	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159136383G>T	uc003ipx.2	+	4	670	c.150G>T	c.(148-150)TTG>TTT	p.L50F	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	50	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)														---	---	---	---	capture		Missense_Mutation	SNP	159136383	159136383	16590	4	G	T	T	47	47	TMEM144	T	2	2
HMGB2	3148	broad.mit.edu	37	4	174254298	174254298	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:174254298C>A	uc011ckc.1	-	2	338	c.218G>T	c.(217-219)AGG>ATG	p.R73M	HMGB2_uc003ita.3_Missense_Mutation_p.R73M|HMGB2_uc003itb.2_Missense_Mutation_p.R73M|HMGB2_uc003itc.2_Missense_Mutation_p.R73M	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN	high-mobility group box 2	73	HMG box 1.				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding				0		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)														---	---	---	---	capture		Missense_Mutation	SNP	174254298	174254298	7517	4	C	A	A	24	24	HMGB2	A	2	2
KLKB1	3818	broad.mit.edu	37	4	187159519	187159519	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187159519G>T	uc003iyy.2	+	6	669	c.598G>T	c.(598-600)GGT>TGT	p.G200C	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.G162C	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	200					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	187159519	187159519	8726	4	G	T	T	47	47	KLKB1	T	2	2
SLC9A3	6550	broad.mit.edu	37	5	485314	485314	+	Silent	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:485314C>G	uc003jbe.2	-	4	820	c.708G>C	c.(706-708)GCG>GCC	p.A236A	SLC9A3_uc011clx.1_Silent_p.A236A	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	236	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)															---	---	---	---	capture		Silent	SNP	485314	485314	15210	5	C	G	G	27	27	SLC9A3	G	3	3
ADCY2	108	broad.mit.edu	37	5	7706899	7706899	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7706899G>T	uc003jdz.1	+	8	1219	c.1152G>T	c.(1150-1152)GTG>GTT	p.V384V	ADCY2_uc011cmo.1_Silent_p.V204V	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	384	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7																		---	---	---	---	capture		Silent	SNP	7706899	7706899	295	5	G	T	T	47	47	ADCY2	T	2	2
SEMA5A	9037	broad.mit.edu	37	5	9202306	9202306	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9202306G>C	uc003jek.2	-	9	1405	c.693C>G	c.(691-693)TTC>TTG	p.F231L		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	231	Sema.|Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	9202306	9202306	14523	5	G	C	C	33	33	SEMA5A	C	3	3
DNAH5	1767	broad.mit.edu	37	5	13714594	13714594	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13714594C>A	uc003jfd.2	-	75	13087	c.13045G>T	c.(13045-13047)GAT>TAT	p.D4349Y	DNAH5_uc003jfc.2_Missense_Mutation_p.D517Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4349					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	13714594	13714594	4787	5	C	A	A	30	30	DNAH5	A	2	2
DNAH5	1767	broad.mit.edu	37	5	13830842	13830842	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13830842C>A	uc003jfd.2	-	36	5967	c.5925G>T	c.(5923-5925)GGG>GGT	p.G1975G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1975	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture		Silent	SNP	13830842	13830842	4787	5	C	A	A	22	22	DNAH5	A	2	2
MYO10	4651	broad.mit.edu	37	5	16681535	16681535	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16681535G>T	uc003jft.3	-	32	4735	c.4267C>A	c.(4267-4269)CAC>AAC	p.H1423N	MYO10_uc011cnb.1_Missense_Mutation_p.H52N|MYO10_uc011cnc.1_Missense_Mutation_p.H302N|MYO10_uc011cnd.1_Missense_Mutation_p.H780N|MYO10_uc011cne.1_Missense_Mutation_p.H780N|MYO10_uc010itx.2_Missense_Mutation_p.H1045N	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1423	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	16681535	16681535	10457	5	G	T	T	47	47	MYO10	T	2	2
CDH18	1016	broad.mit.edu	37	5	19591282	19591282	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:19591282C>G	uc003jgc.2	-	6	1260	c.883G>C	c.(883-885)GCT>CCT	p.A295P	CDH18_uc003jgd.2_Missense_Mutation_p.A295P|CDH18_uc011cnm.1_Missense_Mutation_p.A295P	NM_004934	NP_004925	Q13634	CAD18_HUMAN	cadherin 18, type 2 preproprotein	295	Extracellular (Potential).|Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(5)|large_intestine(1)|skin(1)	7	Lung NSC(1;0.00734)|all_lung(1;0.0197)																	---	---	---	---	capture		Missense_Mutation	SNP	19591282	19591282	3232	5	C	G	G	25	25	CDH18	G	3	3
PDZD2	23037	broad.mit.edu	37	5	32058013	32058013	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32058013G>T	uc003jhl.2	+	12	2392	c.2004G>T	c.(2002-2004)ACG>ACT	p.T668T	PDZD2_uc003jhm.2_Silent_p.T668T|PDZD2_uc011cnx.1_Silent_p.T494T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	668	PDZ 3.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																OREG0016543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	32058013	32058013	12122	5	G	T	T	39	39	PDZD2	T	1	1
OSMR	9180	broad.mit.edu	37	5	38919038	38919038	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38919038C>G	uc003jln.1	+	11	1826	c.1459C>G	c.(1459-1461)CCA>GCA	p.P487A	OSMR_uc011cpj.1_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	487	Fibronectin type-III 2.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---	capture		Missense_Mutation	SNP	38919038	38919038	11703	5	C	G	G	30	30	OSMR	G	3	3
CARD6	84674	broad.mit.edu	37	5	40854434	40854434	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40854434C>A	uc003jmg.2	+	3	3075	c.3000C>A	c.(2998-3000)CCC>CCA	p.P1000P		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1000	Pro-rich.				apoptosis|regulation of apoptosis	intracellular		p.P1000L(1)		ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	40854434	40854434	2769	5	C	A	A	22	22	CARD6	A	2	2
PLCXD3	345557	broad.mit.edu	37	5	41382017	41382017	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41382017C>T	uc003jmm.1	-	2	825	c.723G>A	c.(721-723)TCG>TCA	p.S241S		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	241					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6																		---	---	---	---	capture		Silent	SNP	41382017	41382017	12469	5	C	T	T	19	19	PLCXD3	T	1	1
IL31RA	133396	broad.mit.edu	37	5	55185854	55185854	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55185854G>T	uc003jql.2	+	6	728	c.663G>T	c.(661-663)ACG>ACT	p.T221T	IL31RA_uc003jqk.2_Silent_p.T221T|IL31RA_uc011cqj.1_Silent_p.T79T|IL31RA_uc003jqm.2_Silent_p.T189T|IL31RA_uc003jqn.2_Silent_p.T221T|IL31RA_uc010iwa.1_Silent_p.T189T|IL31RA_uc003jqo.2_Silent_p.T79T	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	189	Extracellular (Potential).|Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---	capture		Silent	SNP	55185854	55185854	7992	5	G	T	T	39	39	IL31RA	T	1	1
FAM169A	26049	broad.mit.edu	37	5	74101044	74101044	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:74101044C>G	uc003kdm.2	-	7	779	c.736G>C	c.(736-738)GGA>CGA	p.G246R	FAM169A_uc010izm.2_Missense_Mutation_p.G186R|FAM169A_uc003kdl.2_Missense_Mutation_p.G64R	NM_015566	NP_056381	Q9Y6X4	F169A_HUMAN	hypothetical protein LOC26049	246											0																		---	---	---	---	capture		Missense_Mutation	SNP	74101044	74101044	5691	5	C	G	G	21	21	FAM169A	G	3	3
FTMT	94033	broad.mit.edu	37	5	121187749	121187749	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121187749C>T	uc003kss.2	+	1	100	c.91C>T	c.(91-93)CGT>TGT	p.R31C		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial precursor	31					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			ovary(1)	1		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)														---	---	---	---	capture		Missense_Mutation	SNP	121187749	121187749	6336	5	C	T	T	27	27	FTMT	T	1	1
HARS	3035	broad.mit.edu	37	5	140056476	140056476	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140056476G>T	uc003lgv.2	-	10	1039	c.957C>A	c.(955-957)TCC>TCA	p.S319S	HARS_uc003lgu.2_Silent_p.S250S|HARS_uc011czm.1_Silent_p.S279S|HARS_uc003lgw.2_Silent_p.S299S|HARS_uc011czn.1_Silent_p.S259S|HARS_uc010jfu.2_Silent_p.S319S|HARS_uc011czo.1_Silent_p.S245S|HARS_uc011czp.1_Silent_p.S205S|HARS_uc011czq.1_Silent_p.S209S	NM_002109	NP_002100	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	319					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)													---	---	---	---	capture		Silent	SNP	140056476	140056476	7241	5	G	T	T	35	35	HARS	T	2	2
PCDHB8	56128	broad.mit.edu	37	5	140559016	140559016	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140559016C>A	uc011dai.1	+	1	1587	c.1401C>A	c.(1399-1401)CCC>CCA	p.P467P	PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	467	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Silent	SNP	140559016	140559016	11968	5	C	A	A	23	23	PCDHB8	A	1	1
PCDHB13	56123	broad.mit.edu	37	5	140594237	140594237	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140594237T>A	uc003lja.1	+	1	729	c.542T>A	c.(541-543)GTC>GAC	p.V181D		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	181	Cadherin 2.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140594237	140594237	11958	5	T	A	A	58	58	PCDHB13	A	4	4
PCDHGB3	56102	broad.mit.edu	37	5	140750236	140750236	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140750236G>A	uc003ljw.1	+	1	275	c.275G>A	c.(274-276)CGA>CAA	p.R92Q	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_uc011dat.1_Missense_Mutation_p.R92Q	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	92	Extracellular (Potential).|Cadherin 1.				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)															---	---	---	---	capture		Missense_Mutation	SNP	140750236	140750236	11984	5	G	A	A	37	37	PCDHGB3	A	1	1
PCDHGA10	56106	broad.mit.edu	37	5	140792924	140792924	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140792924G>T	uc003lkl.1	+	1	182	c.182G>T	c.(181-183)CGG>CTG	p.R61L	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_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc011day.1_Missense_Mutation_p.R61L	NM_018913	NP_061736	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10 isoform 1	61	Cadherin 1.|Extracellular (Potential).				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)															---	---	---	---	capture		Missense_Mutation	SNP	140792924	140792924	11971	5	G	T	T	39	39	PCDHGA10	T	1	1
FAT2	2196	broad.mit.edu	37	5	150911520	150911520	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150911520G>T	uc003lue.3	-	13	9452	c.9439C>A	c.(9439-9441)CAG>AAG	p.Q3147K	GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_5'UTR	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	3147	Extracellular (Potential).|Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	150911520	150911520	5926	5	G	T	T	47	47	FAT2	T	2	2
GLRA1	2741	broad.mit.edu	37	5	151239385	151239385	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151239385A>T	uc003lut.2	-	4	724	c.437T>A	c.(436-438)CTA>CAA	p.L146Q	GLRA1_uc003lur.2_Missense_Mutation_p.L146Q|GLRA1_uc003lus.2_Missense_Mutation_p.L63Q	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	glycine receptor, alpha 1 isoform 1 precursor	146	Extracellular (Probable).				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			ovary(1)|central_nervous_system(1)	2		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)													---	---	---	---	capture		Missense_Mutation	SNP	151239385	151239385	6722	5	A	T	T	15	15	GLRA1	T	4	4
GEMIN5	25929	broad.mit.edu	37	5	154316660	154316660	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154316660G>T	uc003lvx.3	-	2	335	c.252C>A	c.(250-252)ACC>ACA	p.T84T	GEMIN5_uc011ddk.1_Silent_p.T84T	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	gemin 5	84	WD 1.				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			skin(2)|ovary(1)	3	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---	capture		Silent	SNP	154316660	154316660	6599	5	G	T	T	47	47	GEMIN5	T	2	2
SGCD	6444	broad.mit.edu	37	5	156186285	156186285	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156186285C>A	uc003lwd.3	+	8	1230	c.754C>A	c.(754-756)CCT>ACT	p.P252T	SGCD_uc003lwc.3_Missense_Mutation_p.P253T	NM_001128209	NP_001121681	Q92629	SGCD_HUMAN	delta-sarcoglycan isoform 3	252	Extracellular (Potential).				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma					0	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture		Missense_Mutation	SNP	156186285	156186285	14692	5	C	A	A	26	26	SGCD	A	2	2
TIMD4	91937	broad.mit.edu	37	5	156381726	156381726	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156381726G>A	uc003lwh.2	-	2	157	c.100C>T	c.(100-102)CAC>TAC	p.H34Y	TIMD4_uc010jii.2_Missense_Mutation_p.H34Y	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain	34	Ig-like V-type.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture		Missense_Mutation	SNP	156381726	156381726	16432	5	G	A	A	45	45	TIMD4	A	2	2
ATP10B	23120	broad.mit.edu	37	5	160097495	160097495	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160097495C>T	uc003lym.1	-	7	1497	c.650G>A	c.(649-651)TGT>TAT	p.C217Y	ATP10B_uc003lyp.2_Missense_Mutation_p.C217Y|ATP10B_uc011deg.1_Missense_Mutation_p.C261Y|ATP10B_uc003lyo.2_Missense_Mutation_p.C189Y	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	217	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	160097495	160097495	1136	5	C	T	T	17	17	ATP10B	T	2	2
ODZ2	57451	broad.mit.edu	37	5	167671566	167671566	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167671566C>A	uc010jjd.2	+	26	5635	c.5635C>A	c.(5635-5637)CTG>ATG	p.L1879M	ODZ2_uc003lzr.3_Missense_Mutation_p.L1649M|ODZ2_uc003lzt.3_Missense_Mutation_p.L1252M|ODZ2_uc010jje.2_Missense_Mutation_p.L1143M	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---	capture		Missense_Mutation	SNP	167671566	167671566	11240	5	C	A	A	28	28	ODZ2	A	2	2
FOXI1	2299	broad.mit.edu	37	5	169535450	169535450	+	Silent	SNP	G	T	T	rs56128152	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:169535450G>T	uc003mai.3	+	2	1017	c.972G>T	c.(970-972)CCG>CCT	p.P324P	FOXI1_uc003maj.3_Silent_p.P229P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	forkhead box I1 isoform a	324					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)											Pendred_syndrome				---	---	---	---	capture		Silent	SNP	169535450	169535450	6254	5	G	T	T	38	38	FOXI1	T	1	1
NRN1	51299	broad.mit.edu	37	6	5999410	5999410	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:5999410C>A	uc003mwu.2	-	3	879	c.228G>T	c.(226-228)ACG>ACT	p.T76T	NRN1_uc003mwt.2_Silent_p.T102T	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	neuritin precursor	76						anchored to membrane|plasma membrane					0	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)														---	---	---	---	capture		Silent	SNP	5999410	5999410	11063	6	C	A	A	23	23	NRN1	A	1	1
F13A1	2162	broad.mit.edu	37	6	6224962	6224962	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:6224962G>T	uc003mwv.2	-	7	1053	c.930C>A	c.(928-930)GTC>GTA	p.V310V	F13A1_uc011dib.1_Silent_p.V247V	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	310					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)													---	---	---	---	capture		Silent	SNP	6224962	6224962	5534	6	G	T	T	41	41	F13A1	T	2	2
RREB1	6239	broad.mit.edu	37	6	7231198	7231198	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7231198G>T	uc003mxc.2	+	10	3256	c.2866G>T	c.(2866-2868)GCC>TCC	p.A956S	RREB1_uc003mxb.2_Missense_Mutation_p.A956S|RREB1_uc010jnx.2_Missense_Mutation_p.A956S	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	956					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---	capture		Missense_Mutation	SNP	7231198	7231198	14159	6	G	T	T	34	34	RREB1	T	2	2
HIST1H3B	8358	broad.mit.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26032069C>T	uc003nfs.1	-	1	220	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	26032069	26032069	7441	6	C	T	T	32	32	HIST1H3B	T	2	2
ZNF323	64288	broad.mit.edu	37	6	28297448	28297448	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28297448C>T	uc003nla.2	-	2	413	c.13G>A	c.(13-15)GAG>AAG	p.E5K	ZNF323_uc003nld.2_Missense_Mutation_p.E5K|ZNF323_uc010jra.2_Missense_Mutation_p.E5K|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.E5K	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN	zinc finger protein 323	5					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	28297448	28297448	18435	6	C	T	T	32	32	ZNF323	T	2	2
OR14J1	442191	broad.mit.edu	37	6	29274902	29274902	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29274902G>A	uc011dln.1	+	1	436	c.436G>A	c.(436-438)GTG>ATG	p.V146M		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 5, subfamily U member	146	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	29274902	29274902	11354	6	G	A	A	48	48	OR14J1	A	2	2
STK19	8859	broad.mit.edu	37	6	31948290	31948290	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31948290C>T	uc003nyv.2	+	6	1006	c.878C>T	c.(877-879)CCT>CTT	p.P293L	STK19_uc003nyt.2_Missense_Mutation_p.P246L|STK19_uc011dox.1_Missense_Mutation_p.P250L|STK19_uc003nyw.2_Missense_Mutation_p.P289L|STK19_uc010jtn.1_RNA|C4A_uc011doy.1_5'Flank|C4A_uc011doz.1_5'Flank|C4A_uc011dpa.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	serine/threonine kinase 19 isoform 2	293						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(4)	4																		---	---	---	---	capture		Missense_Mutation	SNP	31948290	31948290	15812	6	C	T	T	24	24	STK19	T	2	2
UHRF1BP1	54887	broad.mit.edu	37	6	34835067	34835067	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34835067G>T	uc003oju.3	+	16	3712	c.3478G>T	c.(3478-3480)GGG>TGG	p.G1160W	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1160										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	34835067	34835067	17526	6	G	T	T	35	35	UHRF1BP1	T	2	2
BYSL	705	broad.mit.edu	37	6	41900409	41900409	+	Missense_Mutation	SNP	C	A	A	rs114091206	by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41900409C>A	uc003orl.2	+	7	1615	c.1279C>A	c.(1279-1281)CGC>AGC	p.R427S		NM_004053	NP_004044	Q13895	BYST_HUMAN	bystin	427					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus					0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---	capture		Missense_Mutation	SNP	41900409	41900409	1610	6	C	A	A	23	23	BYSL	A	1	1
MEP1A	4224	broad.mit.edu	37	6	46787396	46787396	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46787396G>A	uc010jzh.1	+	7	553	c.511G>A	c.(511-513)GAC>AAC	p.D171N	MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.D199N|MEP1A_uc011dwi.1_Missense_Mutation_p.D71N	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A alpha precursor	171	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3			Lung(136;0.192)															---	---	---	---	capture		Missense_Mutation	SNP	46787396	46787396	9864	6	G	A	A	41	41	MEP1A	A	2	2
GPR116	221395	broad.mit.edu	37	6	46826157	46826157	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46826157G>A	uc003oyo.3	-	17	3772	c.3483C>T	c.(3481-3483)GTC>GTT	p.V1161V	GPR116_uc011dwj.1_Silent_p.V716V|GPR116_uc011dwk.1_Silent_p.V590V|GPR116_uc003oyp.3_Silent_p.V1019V|GPR116_uc003oyq.3_Silent_p.V1161V|GPR116_uc010jzi.1_Silent_p.V833V	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1161	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---	capture		Silent	SNP	46826157	46826157	6907	6	G	A	A	33	33	GPR116	A	2	2
TFAP2D	83741	broad.mit.edu	37	6	50740417	50740417	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:50740417C>A	uc003paf.2	+	8	1711	c.1199C>A	c.(1198-1200)ACA>AAA	p.T400K	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	400	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)																	---	---	---	---	capture		Missense_Mutation	SNP	50740417	50740417	16318	6	C	A	A	17	17	TFAP2D	A	2	2
PAQR8	85315	broad.mit.edu	37	6	52268827	52268827	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52268827G>T	uc003pao.3	+	2	990	c.816G>T	c.(814-816)CCG>CCT	p.P272P		NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member	272	Extracellular (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding				0	Lung NSC(77;0.0875)																	---	---	---	---	capture		Silent	SNP	52268827	52268827	11858	6	G	T	T	39	39	PAQR8	T	1	1
GSTA1	2938	broad.mit.edu	37	6	52656749	52656749	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52656749G>T	uc003paz.2	-	7	688	c.576C>A	c.(574-576)CCC>CCA	p.P192P		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	192	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)													---	---	---	---	capture		Silent	SNP	52656749	52656749	7110	6	G	T	T	47	47	GSTA1	T	2	2
GCLC	2729	broad.mit.edu	37	6	53372322	53372322	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:53372322T>C	uc003pbw.1	-	9	1428	c.1040A>G	c.(1039-1041)GAC>GGC	p.D347G	GCLC_uc003pbv.1_Missense_Mutation_p.D71G	NM_001498	NP_001489	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	347					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			ovary(1)|central_nervous_system(1)	2	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	53372322	53372322	6561	6	T	C	C	58	58	GCLC	C	4	4
RIMS1	22999	broad.mit.edu	37	6	72974741	72974741	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72974741C>G	uc003pga.2	+	20	3257	c.3180C>G	c.(3178-3180)CAC>CAG	p.H1060Q	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.H277Q|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1060					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---	capture		Missense_Mutation	SNP	72974741	72974741	13844	6	C	G	G	20	20	RIMS1	G	3	3
KHDC1	80759	broad.mit.edu	37	6	73951416	73951416	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73951416G>C	uc003pgo.2	-	5	1051	c.550C>G	c.(550-552)CTG>GTG	p.L184V	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.3_Missense_Mutation_p.L111V	NM_030568	NP_085045	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	184						integral to membrane	RNA binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	73951416	73951416	8450	6	G	C	C	33	33	KHDC1	C	3	3
CNR1	1268	broad.mit.edu	37	6	88854319	88854319	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88854319C>T	uc011dzq.1	-	2	4238	c.675G>A	c.(673-675)AAG>AAA	p.K225K	CNR1_uc010kbz.2_Silent_p.K225K|CNR1_uc011dzr.1_Silent_p.K225K|CNR1_uc011dzs.1_Silent_p.K225K|CNR1_uc003pmq.3_Silent_p.K225K|CNR1_uc011dzt.1_Silent_p.K225K|CNR1_uc010kca.2_Silent_p.K192K	NM_001160260	NP_001153732	P21554	CNR1_HUMAN	cannabinoid receptor 1 isoform a	225	Cytoplasmic (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			skin(2)	2		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)													---	---	---	---	capture		Silent	SNP	88854319	88854319	3769	6	C	T	T	32	32	CNR1	T	2	2
ASCC3	10973	broad.mit.edu	37	6	101103640	101103640	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101103640T>C	uc003pqk.2	-	17	3087	c.2758A>G	c.(2758-2760)ACT>GCT	p.T920A	ASCC3_uc011eai.1_Missense_Mutation_p.T822A	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	920					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		Missense_Mutation	SNP	101103640	101103640	1051	6	T	C	C	59	59	ASCC3	C	4	4
BEND3	57673	broad.mit.edu	37	6	107420469	107420469	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107420469G>T	uc003prs.2	-	3	671	c.21C>A	c.(19-21)ACC>ACA	p.T7T		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	7										ovary(3)	3																		---	---	---	---	capture		Silent	SNP	107420469	107420469	1422	6	G	T	T	39	39	BEND3	T	1	1
LAMA4	3910	broad.mit.edu	37	6	112463333	112463333	+	Silent	SNP	G	A	A	rs35772073	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:112463333G>A	uc003pvu.2	-	20	2964	c.2655C>T	c.(2653-2655)CTC>CTT	p.L885L	LAMA4_uc003pvv.2_Silent_p.L878L|LAMA4_uc003pvt.2_Silent_p.L878L	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	laminin, alpha 4 isoform 1 precursor	885	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)														---	---	---	---	capture		Silent	SNP	112463333	112463333	8931	6	G	A	A	37	37	LAMA4	A	1	1
GJA1	2697	broad.mit.edu	37	6	121767995	121767995	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:121767995T>A	uc003pyr.2	+	2	252	c.2T>A	c.(1-3)ATG>AAG	p.M1K	GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	1					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)													---	---	---	---	capture		Missense_Mutation	SNP	121767995	121767995	6668	6	T	A	A	51	51	GJA1	A	4	4
C6orf58	352999	broad.mit.edu	37	6	127901587	127901587	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127901587T>C	uc003qbh.2	+	3	578	c.566T>C	c.(565-567)TTT>TCT	p.F189S		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	hypothetical protein LOC352999 precursor	189						extracellular region					0				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)														---	---	---	---	capture		Missense_Mutation	SNP	127901587	127901587	2473	6	T	C	C	64	64	C6orf58	C	4	4
L3MBTL3	84456	broad.mit.edu	37	6	130363886	130363886	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130363886T>A	uc003qbt.2	+	3	212	c.42T>A	c.(40-42)GAT>GAA	p.D14E	L3MBTL3_uc003qbu.2_Missense_Mutation_p.D14E	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	14					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---	capture		Missense_Mutation	SNP	130363886	130363886	8916	6	T	A	A	51	51	L3MBTL3	A	4	4
PHACTR2	9749	broad.mit.edu	37	6	144093534	144093534	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144093534G>T	uc003qjq.3	+	7	1469	c.1339G>T	c.(1339-1341)GGG>TGG	p.G447W	PHACTR2_uc010khh.2_Missense_Mutation_p.G367W|PHACTR2_uc010khi.2_Missense_Mutation_p.G458W|PHACTR2_uc003qjr.3_Missense_Mutation_p.G378W	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	447							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)														---	---	---	---	capture		Missense_Mutation	SNP	144093534	144093534	12233	6	G	T	T	39	39	PHACTR2	T	1	1
UTRN	7402	broad.mit.edu	37	6	144768768	144768768	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144768768C>T	uc003qkt.2	+	15	1845	c.1753C>T	c.(1753-1755)CAA>TAA	p.Q585*	UTRN_uc010khq.1_Nonsense_Mutation_p.Q585*	NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	585	Interaction with SYNM.|Spectrin 4.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---	capture		Nonsense_Mutation	SNP	144768768	144768768	17668	6	C	T	T	29	29	UTRN	T	5	2
SYNE1	23345	broad.mit.edu	37	6	152642923	152642923	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152642923A>T	uc010kiw.2	-	83	16618	c.16016T>A	c.(16015-16017)GTT>GAT	p.V5339D	SYNE1_uc003qot.3_Missense_Mutation_p.V5268D|SYNE1_uc003qou.3_Missense_Mutation_p.V5339D|SYNE1_uc010kiz.2_Missense_Mutation_p.V1094D	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5339	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	152642923	152642923	15966	6	A	T	T	2	2	SYNE1	T	4	4
IGF2R	3482	broad.mit.edu	37	6	160491005	160491005	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160491005T>A	uc003qta.2	+	31	4506	c.4358T>A	c.(4357-4359)CTG>CAG	p.L1453Q		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1453	10.|Lumenal (Potential).				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)														---	---	---	---	capture		Missense_Mutation	SNP	160491005	160491005	7877	6	T	A	A	55	55	IGF2R	A	4	4
PDE10A	10846	broad.mit.edu	37	6	165752791	165752791	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165752791C>T	uc003qun.2	-	21	2365	c.2124G>A	c.(2122-2124)AAG>AAA	p.K708K	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.K638K|PDE10A_uc003quo.2_Silent_p.K718K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	708					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)													---	---	---	---	capture		Silent	SNP	165752791	165752791	12051	6	C	T	T	32	32	PDE10A	T	2	2
SDK1	221935	broad.mit.edu	37	7	4277383	4277383	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4277383G>T	uc003smx.2	+	42	6236	c.6097G>T	c.(6097-6099)GGG>TGG	p.G2033W	SDK1_uc010kso.2_Missense_Mutation_p.G1289W|SDK1_uc003smy.2_Missense_Mutation_p.G520W|SDK1_uc003smz.2_Missense_Mutation_p.G93W	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	2033	Extracellular (Potential).|Cytoplasmic (Potential).				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---	capture		Missense_Mutation	SNP	4277383	4277383	14454	7	G	T	T	39	39	SDK1	T	1	1
PAPOLB	56903	broad.mit.edu	37	7	4900374	4900374	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4900374C>A	uc003snk.2	-	1	1252	c.1068G>T	c.(1066-1068)AAG>AAT	p.K356N	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	355					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)														---	---	---	---	capture		Missense_Mutation	SNP	4900374	4900374	11847	7	C	A	A	24	24	PAPOLB	A	2	2
TNRC18	84629	broad.mit.edu	37	7	5355666	5355666	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5355666G>T	uc003soi.3	-	25	7132	c.6783C>A	c.(6781-6783)ACC>ACA	p.T2261T		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2261							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---	capture		Silent	SNP	5355666	5355666	16880	7	G	T	T	39	39	TNRC18	T	1	1
ISPD	729920	broad.mit.edu	37	7	16341084	16341084	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16341084T>C	uc010ktx.2	-	5	797	c.797A>G	c.(796-798)TAC>TGC	p.Y266C	ISPD_uc010kty.2_Missense_Mutation_p.Y216C	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	notch1-induced protein isoform a	266					isoprenoid biosynthetic process		nucleotidyltransferase activity			ovary(1)	1															Multiple Myeloma(15;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	16341084	16341084	8168	7	T	C	C	57	57	ISPD	C	4	4
DNAH11	8701	broad.mit.edu	37	7	21892087	21892087	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21892087G>T	uc003svc.2	+	68	10951	c.10920G>T	c.(10918-10920)TTG>TTT	p.L3640F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3640	AAA 5 (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		Missense_Mutation	SNP	21892087	21892087	4781	7	G	T	T	47	47	DNAH11	T	2	2
DBNL	28988	broad.mit.edu	37	7	44100498	44100498	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44100498G>A	uc003tjp.3	+	13	1374	c.1276G>A	c.(1276-1278)GTG>ATG	p.V426M	DBNL_uc003tjo.3_Missense_Mutation_p.V427M|DBNL_uc003tjr.3_Missense_Mutation_p.V299M|DBNL_uc003tjq.3_Missense_Mutation_p.V435M|DBNL_uc011kbm.1_Missense_Mutation_p.V402M|DBNL_uc011kbn.1_Missense_Mutation_p.V323M|DBNL_uc011kbo.1_Missense_Mutation_p.V327M|DBNL_uc011kbp.1_Missense_Mutation_p.V378M|DBNL_uc011kbq.1_Missense_Mutation_p.V351M|DBNL_uc011kbr.1_Missense_Mutation_p.V375M|DBNL_uc011kbs.1_Missense_Mutation_p.V331M	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	426	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	44100498	44100498	4426	7	G	A	A	40	40	DBNL	A	1	1
AEBP1	165	broad.mit.edu	37	7	44153224	44153224	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44153224C>A	uc003tkb.2	+	21	3146	c.2841C>A	c.(2839-2841)AAC>AAA	p.N947K	AEBP1_uc003tkc.3_Missense_Mutation_p.N522K|AEBP1_uc003tkd.2_Missense_Mutation_p.N197K	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	947	Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	44153224	44153224	350	7	C	A	A	18	18	AEBP1	A	2	2
ADCY1	107	broad.mit.edu	37	7	45697428	45697428	+	Silent	SNP	C	T	T	rs142228376	byFrequency	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45697428C>T	uc003tne.3	+	6	1269	c.1251C>T	c.(1249-1251)GAC>GAT	p.D417D	ADCY1_uc003tnd.2_Silent_p.D192D	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	adenylate cyclase 1	417	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6					Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---	capture		Silent	SNP	45697428	45697428	293	7	C	T	T	19	19	ADCY1	T	1	1
TNS3	64759	broad.mit.edu	37	7	47408340	47408340	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47408340G>T	uc003tnv.2	-	17	2270	c.1903C>A	c.(1903-1905)CGA>AGA	p.R635R	TNS3_uc003tnw.2_Silent_p.R635R	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	635						focal adhesion	protein binding			ovary(4)	4																		---	---	---	---	capture		Silent	SNP	47408340	47408340	16885	7	G	T	T	39	39	TNS3	T	1	1
ZNF479	90827	broad.mit.edu	37	7	57188613	57188613	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:57188613G>T	uc010kzo.2	-	5	780	c.509C>A	c.(508-510)TCA>TAA	p.S170*		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	zinc finger protein 479	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(1)	4			GBM - Glioblastoma multiforme(1;9.18e-12)															---	---	---	---	capture		Nonsense_Mutation	SNP	57188613	57188613	18527	7	G	T	T	45	45	ZNF479	T	5	2
PCLO	27445	broad.mit.edu	37	7	82579540	82579540	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82579540C>T	uc003uhx.2	-	6	10653	c.10364G>A	c.(10363-10365)CGG>CAG	p.R3455Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3455Q|PCLO_uc010lec.2_Missense_Mutation_p.R420Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	piccolo isoform 1	3386					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---	capture		Missense_Mutation	SNP	82579540	82579540	12003	7	C	T	T	23	23	PCLO	T	1	1
ABCB4	5244	broad.mit.edu	37	7	87053341	87053341	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87053341G>A	uc003uiv.1	-	17	2168	c.2092C>T	c.(2092-2094)CTG>TTG	p.L698L	ABCB4_uc003uiw.1_Silent_p.L698L|ABCB4_uc003uix.1_Silent_p.L698L	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	698	Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)																	---	---	---	---	capture		Silent	SNP	87053341	87053341	44	7	G	A	A	33	33	ABCB4	A	2	2
SAMD9	54809	broad.mit.edu	37	7	92733928	92733928	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92733928T>G	uc003umf.2	-	3	1739	c.1483A>C	c.(1483-1485)AAT>CAT	p.N495H	SAMD9_uc003umg.2_Missense_Mutation_p.N495H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	495						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---	capture		Missense_Mutation	SNP	92733928	92733928	14306	7	T	G	G	63	63	SAMD9	G	4	4
SAMD9L	219285	broad.mit.edu	37	7	92764431	92764431	+	Missense_Mutation	SNP	C	A	A	rs151204118		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92764431C>A	uc003umh.1	-	5	2070	c.854G>T	c.(853-855)CGG>CTG	p.R285L	SAMD9L_uc003umj.1_Missense_Mutation_p.R285L|SAMD9L_uc003umi.1_Missense_Mutation_p.R285L|SAMD9L_uc010lfb.1_Missense_Mutation_p.R285L|SAMD9L_uc003umk.1_Missense_Mutation_p.R285L|SAMD9L_uc010lfc.1_Missense_Mutation_p.R285L|SAMD9L_uc010lfd.1_Missense_Mutation_p.R285L|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	285										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---	capture		Missense_Mutation	SNP	92764431	92764431	14307	7	C	A	A	23	23	SAMD9L	A	1	1
PON1	5444	broad.mit.edu	37	7	95025658	95025658	+	Missense_Mutation	SNP	C	G	G	rs146627952	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95025658C>G	uc011kih.1	-	1	30	c.5G>C	c.(4-6)GGG>GCG	p.G2A	PON3_uc003unt.2_Missense_Mutation_p.G2A|PON3_uc011kii.1_Missense_Mutation_p.G2A			P27169	PON1_HUMAN	SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2);	2					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			pancreas(1)	1	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)													---	---	---	---	capture		Missense_Mutation	SNP	95025658	95025658	12677	7	C	G	G	22	22	PON1	G	3	3
OCM2	4951	broad.mit.edu	37	7	97619402	97619402	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97619402G>T	uc003upc.2	-	1	15	c.15C>A	c.(13-15)GAC>GAA	p.D5E		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	oncomodulin-like	5							calcium ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	97619402	97619402	11227	7	G	T	T	40	40	OCM2	T	1	1
TRRAP	8295	broad.mit.edu	37	7	98543388	98543388	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98543388G>T	uc003upp.2	+	32	4701	c.4492G>T	c.(4492-4494)GGG>TGG	p.G1498W	TRRAP_uc011kis.1_Intron|TRRAP_uc003upr.2_Missense_Mutation_p.G1190W	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1498					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Missense_Mutation	SNP	98543388	98543388	17152	7	G	T	T	39	39	TRRAP	T	1	1
ZKSCAN1	7586	broad.mit.edu	37	7	99631227	99631227	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99631227C>A	uc003usk.1	+	6	1318	c.1099C>A	c.(1099-1101)CCT>ACT	p.P367T	ZKSCAN1_uc003usl.1_Missense_Mutation_p.P331T|ZKSCAN1_uc003usm.1_Missense_Mutation_p.P154T	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	zinc finger protein 36	367					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)															---	---	---	---	capture		Missense_Mutation	SNP	99631227	99631227	18277	7	C	A	A	22	22	ZKSCAN1	A	2	2
C7orf51	222950	broad.mit.edu	37	7	100085792	100085792	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100085792C>A	uc003uvd.1	+	4	607	c.448C>A	c.(448-450)CCA>ACA	p.P150T	C7orf51_uc003uve.1_5'UTR	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	hypothetical protein FLJ37538	150										skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Missense_Mutation	SNP	100085792	100085792	2507	7	C	A	A	22	22	C7orf51	A	2	2
ZAN	7455	broad.mit.edu	37	7	100346014	100346014	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100346014G>T	uc003uwj.2	+	11	1335	c.1170G>T	c.(1168-1170)GGG>GGT	p.G390G	ZAN_uc003uwk.2_Silent_p.G390G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	zonadhesin isoform 3	390	MAM 3.|Extracellular (Potential).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---	capture		Silent	SNP	100346014	100346014	18096	7	G	T	T	43	43	ZAN	T	2	2
MUC17	140453	broad.mit.edu	37	7	100683043	100683043	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100683043C>A	uc003uxp.1	+	3	8399	c.8346C>A	c.(8344-8346)GTC>GTA	p.V2782V	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	2782	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Silent	SNP	100683043	100683043	10368	7	C	A	A	29	29	MUC17	A	2	2
CADPS2	93664	broad.mit.edu	37	7	122047709	122047709	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122047709C>A	uc010lkp.2	-	19	2794	c.2631G>T	c.(2629-2631)GAG>GAT	p.E877D	CADPS2_uc011knx.1_Missense_Mutation_p.E252D|CADPS2_uc003vkg.3_Missense_Mutation_p.E571D|CADPS2_uc010lkq.2_Missense_Mutation_p.E871D	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	877	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	122047709	122047709	2687	7	C	A	A	32	32	CADPS2	A	2	2
TAS2R16	50833	broad.mit.edu	37	7	122635373	122635373	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122635373T>C	uc003vkl.1	-	1	382	c.316A>G	c.(316-318)AAG>GAG	p.K106E		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	106	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	122635373	122635373	16091	7	T	C	C	63	63	TAS2R16	C	4	4
METTL2B	55798	broad.mit.edu	37	7	128141953	128141953	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128141953C>G	uc003vnf.2	+	9	1157	c.1120C>G	c.(1120-1122)CTG>GTG	p.L374V	METTL2B_uc003vng.2_Missense_Mutation_p.L309V|METTL2B_uc011kop.1_Missense_Mutation_p.L238V	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	374							methyltransferase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	128141953	128141953	9890	7	C	G	G	32	32	METTL2B	G	3	3
FAM71F1	84691	broad.mit.edu	37	7	128359064	128359064	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128359064C>G	uc003vno.1	+	3	667	c.614C>G	c.(613-615)ACC>AGC	p.T205S	FAM71F1_uc010llo.1_Missense_Mutation_p.T106S|FAM71F1_uc011koq.1_Missense_Mutation_p.T97S|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.T106S|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.T205S	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	testes development-related NYD-SP18	205										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	128359064	128359064	5836	7	C	G	G	18	18	FAM71F1	G	3	3
PLXNA4	91584	broad.mit.edu	37	7	131864554	131864554	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131864554C>A	uc003vra.3	-	20	3995	c.3766G>T	c.(3766-3768)GTG>TTG	p.V1256L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	1256	Helical; (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	131864554	131864554	12548	7	C	A	A	19	19	PLXNA4	A	1	1
ZNF777	27153	broad.mit.edu	37	7	149129363	149129363	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149129363G>T	uc003wfv.2	-	6	2163	c.2000C>A	c.(1999-2001)CCC>CAC	p.P667H		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	667	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---	capture		Missense_Mutation	SNP	149129363	149129363	18748	7	G	T	T	43	43	ZNF777	T	2	2
ZNF746	155061	broad.mit.edu	37	7	149191588	149191588	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149191588G>A	uc003wfw.2	-	2	302	c.31C>T	c.(31-33)CCG>TCG	p.P11S	ZNF746_uc010lpi.2_Missense_Mutation_p.P11S	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	zinc finger protein 746 isoform 2	11					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|breast(1)	3	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)															---	---	---	---	capture		Missense_Mutation	SNP	149191588	149191588	18727	7	G	A	A	41	41	ZNF746	A	2	2
GIMAP8	155038	broad.mit.edu	37	7	150171512	150171512	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150171512G>C	uc003whj.2	+	4	1425	c.1095G>C	c.(1093-1095)AGG>AGC	p.R365S		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	365						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)														---	---	---	---	capture		Missense_Mutation	SNP	150171512	150171512	6653	7	G	C	C	41	41	GIMAP8	C	3	3
GIMAP8	155038	broad.mit.edu	37	7	150171653	150171653	+	Silent	SNP	G	T	T	rs149276246	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150171653G>T	uc003whj.2	+	4	1566	c.1236G>T	c.(1234-1236)GCG>GCT	p.A412A		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	412	Potential.					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)														---	---	---	---	capture		Silent	SNP	150171653	150171653	6653	7	G	T	T	39	39	GIMAP8	T	1	1
ASB10	136371	broad.mit.edu	37	7	150878316	150878316	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150878316G>T	uc003wjm.1	-	3	1075	c.949C>A	c.(949-951)CGC>AGC	p.R317S	ASB10_uc003wjl.1_Missense_Mutation_p.R317S|ASB10_uc003wjn.1_Missense_Mutation_p.R257S	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box-containing 10	272	ANK 5.				intracellular signal transduction						0			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	150878316	150878316	1032	7	G	T	T	39	39	ASB10	T	1	1
NUB1	51667	broad.mit.edu	37	7	151073012	151073012	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151073012C>A	uc003wjx.2	+	13	1551	c.1546C>A	c.(1546-1548)CAG>AAG	p.Q516K	NUB1_uc003wjw.2_Missense_Mutation_p.Q478K|NUB1_uc010lqc.2_RNA	NM_016118	NP_057202	Q9Y5A7	NUB1_HUMAN	NEDD8 ultimate buster-1	492	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding				0			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)														---	---	---	---	capture		Missense_Mutation	SNP	151073012	151073012	11119	7	C	A	A	21	21	NUB1	A	2	2
GALNTL5	168391	broad.mit.edu	37	7	151699823	151699823	+	Missense_Mutation	SNP	G	T	T	rs149988530		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151699823G>T	uc003wkp.2	+	6	906	c.683G>T	c.(682-684)AGC>ATC	p.S228I	GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.S117I	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	228	Catalytic subdomain A.|Lumenal (Potential).					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			ovary(2)	2	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	151699823	151699823	6488	7	G	T	T	34	34	GALNTL5	T	2	2
PTPRN2	5799	broad.mit.edu	37	7	157926395	157926395	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157926395C>T	uc003wno.2	-	9	1651	c.1530G>A	c.(1528-1530)GCG>GCA	p.A510A	PTPRN2_uc003wnp.2_Silent_p.A493A|PTPRN2_uc003wnq.2_Silent_p.A510A|PTPRN2_uc003wnr.2_Silent_p.A472A|PTPRN2_uc011kwa.1_Silent_p.A533A	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	510	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)														---	---	---	---	capture		Silent	SNP	157926395	157926395	13265	7	C	T	T	27	27	PTPRN2	T	1	1
EPB49	2039	broad.mit.edu	37	8	21937755	21937755	+	Silent	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21937755G>C	uc011kyt.1	+	11	1129	c.900G>C	c.(898-900)CGG>CGC	p.R300R	EPB49_uc010ltl.2_Silent_p.R300R|EPB49_uc011kys.1_Silent_p.R260R|EPB49_uc010ltn.2_Silent_p.R275R|EPB49_uc011kyu.1_Silent_p.R300R|EPB49_uc011kyv.1_Silent_p.R300R|EPB49_uc010ltq.2_Silent_p.R300R	NM_001114136	NP_001107608	Q08495	DEMA_HUMAN	erythrocyte membrane protein band 4.9 isoform 1	300	Interaction with RASGRF2.				actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)	1				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)														---	---	---	---	capture		Silent	SNP	21937755	21937755	5352	8	G	C	C	43	43	EPB49	C	3	3
TMEM66	51669	broad.mit.edu	37	8	29931443	29931443	+	Missense_Mutation	SNP	G	T	T	rs11538828		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29931443G>T	uc003xhs.2	-	2	416	c.232C>A	c.(232-234)CCA>ACA	p.P78T	TMEM66_uc003xht.2_Missense_Mutation_p.P78T|TMEM66_uc003xhu.2_Missense_Mutation_p.P42T|TMEM66_uc003xhv.2_Intron	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	78						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)														---	---	---	---	capture		Missense_Mutation	SNP	29931443	29931443	16734	8	G	T	T	43	43	TMEM66	T	2	2
NRG1	3084	broad.mit.edu	37	8	32463185	32463185	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:32463185C>A	uc003xiv.2	+	3	901	c.384C>A	c.(382-384)ACC>ACA	p.T128T	NRG1_uc003xip.2_Silent_p.T343T|NRG1_uc003xir.2_Silent_p.T128T|NRG1_uc010lvl.2_Silent_p.T128T|NRG1_uc010lvm.2_Silent_p.T128T|NRG1_uc010lvn.2_Silent_p.T128T|NRG1_uc003xis.2_Silent_p.T128T|NRG1_uc011lbf.1_Silent_p.T128T|NRG1_uc010lvo.2_Silent_p.T128T|NRG1_uc003xiu.2_Silent_p.T128T|NRG1_uc003xiw.2_Silent_p.T128T|NRG1_uc003xit.2_Silent_p.T128T|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.T94T|NRG1_uc010lvq.2_Silent_p.T94T|NRG1_uc003xix.2_Silent_p.T18T	NM_013964	NP_039258	Q02297	NRG1_HUMAN	neuregulin 1 isoform HRG-alpha	128	Extracellular (Potential).|Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---	capture		Silent	SNP	32463185	32463185	11052	8	C	A	A	21	21	NRG1	A	2	2
C8orf22	492307	broad.mit.edu	37	8	49985441	49985441	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49985441C>T	uc003xqq.3	+	2	235	c.52C>T	c.(52-54)CGA>TGA	p.R18*		NM_001007176	NP_001007177	Q8WWR9	PDPFL_HUMAN	hypothetical protein LOC492307	18											0		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)																---	---	---	---	capture		Nonsense_Mutation	SNP	49985441	49985441	2528	8	C	T	T	31	31	C8orf22	T	5	1
PCMTD1	115294	broad.mit.edu	37	8	52773466	52773466	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52773466C>G	uc003xqx.3	-	2	587	c.246G>C	c.(244-246)TTG>TTC	p.L82F	PCMTD1_uc003xqw.3_Missense_Mutation_p.L82F|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.L82F	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate)	82						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity				0		Lung NSC(129;0.0795)|all_lung(136;0.144)																---	---	---	---	capture		Missense_Mutation	SNP	52773466	52773466	12006	8	C	G	G	17	17	PCMTD1	G	3	3
C8orf34	116328	broad.mit.edu	37	8	69699678	69699678	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69699678G>C	uc010lyz.2	+	12	1247	c.1198G>C	c.(1198-1200)GAT>CAT	p.D400H	C8orf34_uc003xyb.2_Missense_Mutation_p.D375H	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	400					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)															---	---	---	---	capture		Missense_Mutation	SNP	69699678	69699678	2532	8	G	C	C	41	41	C8orf34	C	3	3
SULF1	23213	broad.mit.edu	37	8	70476293	70476293	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70476293C>A	uc010lza.1	+	5	800	c.83C>A	c.(82-84)CCG>CAG	p.P28Q	SULF1_uc003xyd.2_Missense_Mutation_p.P28Q|SULF1_uc003xye.2_Missense_Mutation_p.P28Q|SULF1_uc003xyf.2_Missense_Mutation_p.P28Q|SULF1_uc003xyg.2_Missense_Mutation_p.P28Q	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	28					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)															---	---	---	---	capture		Missense_Mutation	SNP	70476293	70476293	15890	8	C	A	A	23	23	SULF1	A	1	1
ZFHX4	79776	broad.mit.edu	37	8	77776369	77776369	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77776369G>T	uc003yav.2	+	11	10671	c.10284G>T	c.(10282-10284)GAG>GAT	p.E3428D		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	3424						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77776369	77776369	18223	8	G	T	T	33	33	ZFHX4	T	2	2
ZFAND1	79752	broad.mit.edu	37	8	82630427	82630427	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:82630427C>T	uc003ycj.1	-	2	102	c.88G>A	c.(88-90)GGA>AGA	p.G30R	ZFAND1_uc010lzx.1_Missense_Mutation_p.G30R|ZFAND1_uc003yck.1_5'UTR	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	30	AN1-type 1.						zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	82630427	82630427	18214	8	C	T	T	24	24	ZFAND1	T	2	2
LRRCC1	85444	broad.mit.edu	37	8	86048176	86048176	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86048176G>T	uc003ycw.2	+	14	2461	c.2307G>T	c.(2305-2307)TGG>TGT	p.W769C	LRRCC1_uc010maa.1_Missense_Mutation_p.W470C|LRRCC1_uc003ycx.2_Missense_Mutation_p.W676C|LRRCC1_uc003ycy.2_Missense_Mutation_p.W749C	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	769					cell division|mitosis	centriole|nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	86048176	86048176	9402	8	G	T	T	43	43	LRRCC1	T	2	2
DCAF4L2	138009	broad.mit.edu	37	8	88885761	88885761	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:88885761C>A	uc003ydz.2	-	1	536	c.439G>T	c.(439-441)GTG>TTG	p.V147L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	147										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88885761	88885761	4443	8	C	A	A	19	19	DCAF4L2	A	1	1
DCAF4L2	138009	broad.mit.edu	37	8	88885967	88885967	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:88885967A>G	uc003ydz.2	-	1	330	c.233T>C	c.(232-234)CTG>CCG	p.L78P		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	78										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	88885967	88885967	4443	8	A	G	G	7	7	DCAF4L2	G	4	4
EIF3E	3646	broad.mit.edu	37	8	109226865	109226865	+	Silent	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109226865G>A	uc003ymu.2	-	10	1060	c.1032C>T	c.(1030-1032)TTC>TTT	p.F344F	EIF3E_uc003ymt.2_Silent_p.F295F|EIF3E_uc003ymv.2_Silent_p.F251F|EIF3E_uc010mci.1_Intron	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	344	PCI.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)															---	---	---	---	capture		Silent	SNP	109226865	109226865	5206	8	G	A	A	33	33	EIF3E	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113564935	113564935	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113564935G>A	uc003ynu.2	-	26	4408	c.4249C>T	c.(4249-4251)CGT>TGT	p.R1417C	CSMD3_uc003yns.2_Missense_Mutation_p.R689C|CSMD3_uc003ynt.2_Missense_Mutation_p.R1377C|CSMD3_uc011lhx.1_Missense_Mutation_p.R1313C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1417	Extracellular (Potential).|CUB 8.					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	113564935	113564935	4087	8	G	A	A	37	37	CSMD3	A	1	1
ZHX2	22882	broad.mit.edu	37	8	123965654	123965654	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:123965654A>G	uc003ypk.1	+	3	2471	c.1904A>G	c.(1903-1905)AAA>AGA	p.K635R		NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	635	Homeobox 4.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---	capture		Missense_Mutation	SNP	123965654	123965654	18267	8	A	G	G	1	1	ZHX2	G	4	4
ADCY8	114	broad.mit.edu	37	8	131812772	131812772	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:131812772G>T	uc003ytd.3	-	15	3216	c.2960C>A	c.(2959-2961)TCC>TAC	p.S987Y	ADCY8_uc010mds.2_Missense_Mutation_p.S856Y	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	987	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---	capture		Missense_Mutation	SNP	131812772	131812772	301	8	G	T	T	41	41	ADCY8	T	2	2
FAM135B	51059	broad.mit.edu	37	8	139160773	139160773	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139160773A>T	uc003yuy.2	-	14	3609	c.3438T>A	c.(3436-3438)CAT>CAA	p.H1146Q	FAM135B_uc003yux.2_Missense_Mutation_p.H1047Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H708Q|FAM135B_uc003yvb.2_Missense_Mutation_p.W674R	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	1146										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	139160773	139160773	5646	8	A	T	T	8	8	FAM135B	T	4	4
BAI1	575	broad.mit.edu	37	8	143624780	143624780	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143624780A>G	uc003ywm.2	+	28	4613	c.4430A>G	c.(4429-4431)TAT>TGT	p.Y1477C		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1477	Cytoplasmic (Potential).|Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	143624780	143624780	1319	8	A	G	G	16	16	BAI1	G	4	4
KIAA1432	57589	broad.mit.edu	37	9	5770270	5770270	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5770270C>G	uc003zji.2	+	22	3464	c.3371C>G	c.(3370-3372)TCT>TGT	p.S1124C	KIAA1432_uc003zjl.3_Missense_Mutation_p.S1087C|ERMP1_uc011lme.1_Intron	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN	connexin 43-interacting protein 150 isoform a	1203						integral to membrane					0		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)														---	---	---	---	capture		Missense_Mutation	SNP	5770270	5770270	8542	9	C	G	G	32	32	KIAA1432	G	3	3
TYRP1	7306	broad.mit.edu	37	9	12695754	12695754	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:12695754G>T	uc003zkv.3	+	3	803	c.625G>T	c.(625-627)GGT>TGT	p.G209C		NM_000550	NP_000541	P17643	TYRP1_HUMAN	tyrosinase-related protein 1 precursor	209	Lumenal, melanosome (Potential).				melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			lung(1)	1		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)										Oculocutaneous_Albinism				---	---	---	---	capture		Missense_Mutation	SNP	12695754	12695754	17373	9	G	T	T	47	47	TYRP1	T	2	2
BNC2	54796	broad.mit.edu	37	9	16436420	16436420	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:16436420G>T	uc003zml.2	-	6	1912	c.1772C>A	c.(1771-1773)ACC>AAC	p.T591N	BNC2_uc011lmw.1_Missense_Mutation_p.T496N|BNC2_uc003zmm.2_Missense_Mutation_p.T549N|BNC2_uc003zmq.1_Missense_Mutation_p.T605N|BNC2_uc003zmr.1_Missense_Mutation_p.T628N|BNC2_uc003zmp.1_Missense_Mutation_p.T619N|BNC2_uc010mij.1_Missense_Mutation_p.T513N|BNC2_uc011lmv.1_Missense_Mutation_p.T417N|BNC2_uc003zmo.1_Missense_Mutation_p.T513N|BNC2_uc003zmj.2_Missense_Mutation_p.T356N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.T356N|BNC2_uc003zmn.1_Missense_Mutation_p.T356N	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	basonuclin 2	591	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(50;9.01e-08)														---	---	---	---	capture		Missense_Mutation	SNP	16436420	16436420	1500	9	G	T	T	44	44	BNC2	T	2	2
KLHL9	55958	broad.mit.edu	37	9	21333994	21333994	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21333994C>T	uc003zoy.2	-	1	1436	c.865G>A	c.(865-867)GAT>AAT	p.D289N	KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	kelch-like 9	289					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				ovary(3)|skin(1)	4				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)														---	---	---	---	capture		Missense_Mutation	SNP	21333994	21333994	8710	9	C	T	T	32	32	KLHL9	T	2	2
UBAP2	55833	broad.mit.edu	37	9	33923422	33923422	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33923422G>T	uc003ztq.1	-	25	2964	c.2851C>A	c.(2851-2853)CCC>ACC	p.P951T	UBAP2_uc011loc.1_Missense_Mutation_p.P860T|UBAP2_uc011lod.1_Missense_Mutation_p.P684T|UBAP2_uc011loe.1_Missense_Mutation_p.P706T|UBAP2_uc011lof.1_Missense_Mutation_p.P876T|UBAP2_uc003ztn.1_Missense_Mutation_p.P190T|UBAP2_uc003zto.1_Missense_Mutation_p.P190T|UBAP2_uc003ztp.1_Missense_Mutation_p.P190T	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	951										ovary(3)	3			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	33923422	33923422	17394	9	G	T	T	41	41	UBAP2	T	2	2
CREB3	10488	broad.mit.edu	37	9	35736623	35736623	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35736623G>A	uc003zxv.2	+	9	1469	c.1016G>A	c.(1015-1017)CGA>CAA	p.R339Q	CREB3_uc010mla.2_Missense_Mutation_p.R258Q	NM_006368	NP_006359	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	363	Lumenal (Potential).|Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity				0	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)												OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	35736623	35736623	3994	9	G	A	A	37	37	CREB3	A	1	1
ASTN2	23245	broad.mit.edu	37	9	119249690	119249690	+	Missense_Mutation	SNP	C	A	A	rs16933591	byFrequency;by1000genomes	TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:119249690C>A	uc004bjs.1	-	20	3546	c.3445G>T	c.(3445-3447)GTC>TTC	p.V1149F	ASTN2_uc004bjr.1_Missense_Mutation_p.V1145F|ASTN2_uc004bjt.1_Missense_Mutation_p.V1098F|ASTN2_uc004bjp.1_Missense_Mutation_p.V242F|ASTN2_uc004bjq.1_Missense_Mutation_p.V201F|ASTN2_uc011lxr.1_Missense_Mutation_p.V201F|ASTN2_uc011lxs.1_Missense_Mutation_p.V201F|ASTN2_uc011lxt.1_Missense_Mutation_p.V201F|ASTN2_uc004bjo.1_5'UTR	NM_198187	NP_937830	O75129	ASTN2_HUMAN	astrotactin 2 isoform c	1149	Extracellular (Potential).|Fibronectin type-III.					integral to membrane				skin(4)|ovary(3)|breast(1)|kidney(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	119249690	119249690	1084	9	C	A	A	20	20	ASTN2	A	2	2
ZNF79	7633	broad.mit.edu	37	9	130197393	130197393	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130197393A>G	uc004bqw.3	+	3	544	c.130A>G	c.(130-132)ACG>GCG	p.T44A	ZNF79_uc011maf.1_Missense_Mutation_p.T20A|ZNF79_uc011mag.1_Missense_Mutation_p.T20A	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	zinc finger protein 79	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	130197393	130197393	18759	9	A	G	G	10	10	ZNF79	G	4	4
C9orf7	11094	broad.mit.edu	37	9	136330480	136330480	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136330480C>A	uc011mdg.1	+	3	333	c.231C>A	c.(229-231)CCC>CCA	p.P77P	C9orf7_uc004cec.2_Intron|C9orf7_uc011mdh.1_Silent_p.P77P|C9orf7_uc011mdi.1_Intron|C9orf7_uc010nan.2_RNA	NM_017586	NP_060056	Q9UGQ2	FLOWR_HUMAN	hypothetical protein LOC11094 isoform a	77	Helical; (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(294;5.7e-39)|all cancers(34;1.83e-23)|OV - Ovarian serous cystadenocarcinoma(145;8.94e-08)|Epithelial(140;1.01e-06)														---	---	---	---	capture		Silent	SNP	136330480	136330480	2609	9	C	A	A	24	24	C9orf7	A	2	2
MAN1B1	11253	broad.mit.edu	37	9	140002866	140002866	+	Silent	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140002866C>T	uc004cld.2	+	13	1958	c.1923C>T	c.(1921-1923)ATC>ATT	p.I641I	MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Silent_p.I314I|MAN1B1_uc004clg.1_RNA	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	641	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)														---	---	---	---	capture		Silent	SNP	140002866	140002866	9595	9	C	T	T	29	29	MAN1B1	T	2	2
CACNA1B	774	broad.mit.edu	37	9	140773552	140773552	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140773552G>A	uc004cog.2	+	2	476	c.331G>A	c.(331-333)GTG>ATG	p.V111M	uc004cof.1_Intron	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	111	Helical; Name=S1 of repeat I; (Potential).|I.				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---	capture		Missense_Mutation	SNP	140773552	140773552	2655	9	G	A	A	40	40	CACNA1B	A	1	1
CACNA1B	774	broad.mit.edu	37	9	140811768	140811768	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140811768G>T	uc004cog.2	+	6	996	c.851G>T	c.(850-852)CGG>CTG	p.R284L		NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	284	I.|Extracellular (Potential).				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			breast(3)|large_intestine(2)|ovary(1)	6	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)													---	---	---	---	capture		Missense_Mutation	SNP	140811768	140811768	2655	9	G	T	T	39	39	CACNA1B	T	1	1
SHOX	6473	broad.mit.edu	37	X	601814	601814	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:601814T>C	uc004cph.1	+	5	1316	c.625T>C	c.(625-627)TTC>CTC	p.F209L	SHOX_uc004cpi.2_Missense_Mutation_p.F209L	NM_000451	NP_000442	O15266	SHOX_HUMAN	short stature homeobox isoform SHOXa	209					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	601814	601814	14783	23	T	C	C	64	64	SHOX	C	4	4
CSF2RA	1438	broad.mit.edu	37	X	1428351	1428351	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1428351G>C	uc010nct.2	+	14	1504	c.1182G>C	c.(1180-1182)TTG>TTC	p.L394F	CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.L394F|CSF2RA_uc004cpo.2_Missense_Mutation_p.L394F|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.L261F|CSF2RA_uc004cpp.2_Missense_Mutation_p.D335H|CSF2RA_uc010ncv.2_Missense_Mutation_p.L428F|CSF2RA_uc004cpr.2_3'UTR	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	394	Cytoplasmic (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)													---	---	---	---	capture		Missense_Mutation	SNP	1428351	1428351	4075	23	G	C	C	45	45	CSF2RA	C	3	3
ASMT	438	broad.mit.edu	37	X	1743268	1743268	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1743268G>A	uc004cqd.2	+	4	496	c.351G>A	c.(349-351)TGG>TGA	p.W117*	ASMT_uc010ncy.2_Nonsense_Mutation_p.W117*|ASMT_uc004cqe.2_Nonsense_Mutation_p.W117*	NM_004043	NP_004034	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	117					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			skin(1)	1		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---	capture		Nonsense_Mutation	SNP	1743268	1743268	1064	23	G	A	A	43	43	ASMT	A	5	2
MAGEB1	4112	broad.mit.edu	37	X	30269565	30269565	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30269565T>A	uc004dcc.2	+	4	1275	c.955T>A	c.(955-957)TCC>ACC	p.S319T	MAGEB1_uc004dcd.2_Missense_Mutation_p.S319T|MAGEB1_uc004dce.2_Missense_Mutation_p.S319T	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	319											0																		---	---	---	---	capture		Missense_Mutation	SNP	30269565	30269565	9553	23	T	A	A	50	50	MAGEB1	A	4	4
CXorf22	170063	broad.mit.edu	37	X	35969926	35969926	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35969926G>C	uc004ddj.2	+	6	951	c.892G>C	c.(892-894)GAT>CAT	p.D298H	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	298										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	35969926	35969926	4262	23	G	C	C	33	33	CXorf22	C	3	3
SUV39H1	6839	broad.mit.edu	37	X	48564683	48564683	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48564683C>T	uc004dkn.2	+	4	901	c.856C>T	c.(856-858)CGG>TGG	p.R286W	SUV39H1_uc011mmf.1_Missense_Mutation_p.R297W|SUV39H1_uc011mmg.1_RNA	NM_003173	NP_003164	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1	286	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	48564683	48564683	15932	23	C	T	T	27	27	SUV39H1	T	1	1
KIAA2022	340533	broad.mit.edu	37	X	73963358	73963358	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73963358C>A	uc004eby.2	-	3	1651	c.1034G>T	c.(1033-1035)TGC>TTC	p.C345F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	345					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---	capture		Missense_Mutation	SNP	73963358	73963358	8580	23	C	A	A	25	25	KIAA2022	A	2	2
CXorf26	51260	broad.mit.edu	37	X	75397617	75397617	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75397617G>C	uc004ecl.1	+	6	779	c.576G>C	c.(574-576)GAG>GAC	p.E192D		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	hypothetical protein LOC51260	192											0																		---	---	---	---	capture		Missense_Mutation	SNP	75397617	75397617	4264	23	G	C	C	33	33	CXorf26	C	3	3
TAF7L	54457	broad.mit.edu	37	X	100547857	100547857	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100547857G>T	uc004ehb.2	-	1	189	c.177C>A	c.(175-177)GCC>GCA	p.A59A	TAF7L_uc004ehc.1_5'Flank	NM_024885	NP_079161	Q5H9L4	TAF7L_HUMAN	TATA box binding protein-associated factor, RNA	59					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			breast(1)	1																		---	---	---	---	capture		Silent	SNP	100547857	100547857	16054	23	G	T	T	39	39	TAF7L	T	1	1
DCX	1641	broad.mit.edu	37	X	110574147	110574147	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110574147C>T	uc004epd.2	-	5	1346	c.1174G>A	c.(1174-1176)GCA>ACA	p.A392T	DCX_uc011msv.1_Missense_Mutation_p.G392S|DCX_uc004epe.2_Missense_Mutation_p.A311T|DCX_uc004epf.2_Missense_Mutation_p.G311S|DCX_uc004epg.2_Missense_Mutation_p.A311T	NM_000555	NP_000546	O43602	DCX_HUMAN	doublecortin isoform a	392	Pro/Ser-rich.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			central_nervous_system(2)|lung(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	110574147	110574147	4489	23	C	T	T	24	24	DCX	T	2	2
CXorf61	203413	broad.mit.edu	37	X	115593069	115593069	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:115593069C>A	uc004eqj.1	-	2	301	c.181G>T	c.(181-183)GAC>TAC	p.D61Y		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	chromosome X open reading frame 61	61	Extracellular (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	115593069	115593069	4280	23	C	A	A	31	31	CXorf61	A	1	1
NKAP	79576	broad.mit.edu	37	X	119064021	119064021	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119064021A>C	uc004esh.2	-	8	1198	c.1031T>G	c.(1030-1032)ATT>AGT	p.I344S	NKAP_uc004esg.2_Missense_Mutation_p.I231S	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	NFKB activating protein	344	Necessary for interaction with HDAC3 and transcriptional repression.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	119064021	119064021	10840	23	A	C	C	4	4	NKAP	C	4	4
ODZ1	10178	broad.mit.edu	37	X	123775669	123775669	+	Silent	SNP	G	T	T			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123775669G>T	uc004euj.2	-	11	2113	c.2049C>A	c.(2047-2049)CCC>CCA	p.P683P	ODZ1_uc011muj.1_Silent_p.P682P|ODZ1_uc010nqy.2_Silent_p.P683P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	683	EGF-like 5.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---	capture		Silent	SNP	123775669	123775669	11239	23	G	T	T	47	47	ODZ1	T	2	2
PASD1	139135	broad.mit.edu	37	X	150841039	150841039	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150841039C>A	uc004fev.3	+	14	2154	c.1822C>A	c.(1822-1824)CAA>AAA	p.Q608K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	608						nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	150841039	150841039	11888	23	C	A	A	21	21	PASD1	A	2	2
CNGA2	1260	broad.mit.edu	37	X	150912120	150912120	+	Missense_Mutation	SNP	G	T	T	rs147982375		TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150912120G>T	uc004fey.1	+	7	1369	c.1145G>T	c.(1144-1146)CGG>CTG	p.R382L		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	382	Extracellular (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		Missense_Mutation	SNP	150912120	150912120	3735	23	G	T	T	39	39	CNGA2	T	1	1
MAGEA4	4103	broad.mit.edu	37	X	151092925	151092925	+	Silent	SNP	C	A	A			TCGA-18-3414-01	TCGA-18-3414-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151092925C>A	uc004fez.2	+	3	945	c.789C>A	c.(787-789)CCC>CCA	p.P263P	MAGEA4_uc004ffa.2_Silent_p.P263P|MAGEA4_uc004ffb.2_Silent_p.P263P|MAGEA4_uc004ffc.2_Silent_p.P263P|MAGEA4_uc004ffd.2_Silent_p.P263P	NM_002362	NP_002353	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	263	MAGE.						protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Silent	SNP	151092925	151092925	9547	23	C	A	A	23	23	MAGEA4	A	1	1
