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
MNDA	4332	broad.mit.edu	37	1	158812030	158812031	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158812030_158812031GG>CA	uc001fsz.1	+	2	287_288	c.87_88GG>CA	c.(85-90)CTGGCC>CTCACC	p.A30T		NM_002432	NP_002423	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	30	DAPIN.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(2)	4	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	DNP	158812030	158812031	10067	1	GG	CA	CA	47	47	MNDA	CA	3	3
C12orf43	64897	broad.mit.edu	37	12	121448635	121448636	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121448635_121448636CC>AA	uc001tzh.1	-	3	305_306	c.282_283GG>TT	c.(280-285)CTGGAC>CTTTAC	p.D95Y	C12orf43_uc009zxa.1_Missense_Mutation_p.D126Y|C12orf43_uc010szo.1_Missense_Mutation_p.D53Y|C12orf43_uc010szp.1_Missense_Mutation_p.D95Y|C12orf43_uc001tzi.1_Missense_Mutation_p.D95Y	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	95											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Missense_Mutation	DNP	121448635	121448636	1733	12	CC	AA	AA	30	30	C12orf43	AA	2	2
TSPAN3	10099	broad.mit.edu	37	15	77348510	77348511	+	Missense_Mutation	DNP	GC	CA	CA			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77348510_77348511GC>CA	uc002bcj.2	-	2	367_368	c.150_151GC>TG	c.(148-153)ACGCTC>ACTGTC	p.L51V	TSPAN3_uc002bck.2_Missense_Mutation_p.L51V|TSPAN3_uc010ump.1_Intron|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	51	Helical; (Potential).					integral to membrane					0				all cancers(203;1.14e-19)														---	---	---	---	capture		Missense_Mutation	DNP	77348510	77348511	17196	15	GC	CA	CA	34	34	TSPAN3	CA	3	3
PRR25	388199	broad.mit.edu	37	16	863772	863772	+	Frame_Shift_Del	DEL	G	-	-			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:863772delG	uc010uut.1	+	3	1120	c.1120delG	c.(1120-1122)GGGfs	p.G374fs		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	proline rich 25	374										large_intestine(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	863772	863772	13046	16	G	-	-	39	39	PRR25	-	5	5
ITGA2B	3674	broad.mit.edu	37	17	42463236	42463236	+	Frame_Shift_Del	DEL	G	-	-			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42463236delG	uc002igt.1	-	3	396	c.364delC	c.(364-366)CAAfs	p.Q122fs		NM_000419	NP_000410	P08514	ITA2B_HUMAN	integrin alpha 2b preproprotein	122	Extracellular (Potential).|FG-GAP 2.				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)													---	---	---	---	capture_indel		Frame_Shift_Del	DEL	42463236	42463236	8180	17	G	-	-	47	47	ITGA2B	-	5	5
TAS1R1	80835	broad.mit.edu	37	1	6637114	6637114	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6637114C>A	uc001ant.2	+	5	1578	c.1578C>A	c.(1576-1578)ACC>ACA	p.T526T	TAS1R1_uc001anu.2_Silent_p.T272T|TAS1R1_uc001anv.2_Silent_p.T272T|TAS1R1_uc001anw.2_Intron|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank|ZBTB48_uc009vmd.1_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	526	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---	capture		Silent	SNP	6637114	6637114	16084	1	C	A	A	24	24	TAS1R1	A	2	2
PINK1	65018	broad.mit.edu	37	1	20975099	20975099	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20975099G>C	uc001bdm.2	+	6	1319	c.1225G>C	c.(1225-1227)GGA>CGA	p.G409R	PINK1_uc001bdn.2_Missense_Mutation_p.G102R	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1 precursor	409	Protein kinase.|Cytoplasmic (Potential).		G -> V (in PARK6).		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			ovary(2)|central_nervous_system(1)	3		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	20975099	20975099	12356	1	G	C	C	39	39	PINK1	C	3	3
CATSPER4	378807	broad.mit.edu	37	1	26524860	26524860	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26524860C>A	uc010oez.1	+	6	762	c.762C>A	c.(760-762)CTC>CTA	p.L254L	CATSPER4_uc010oey.1_Silent_p.L76L|CATSPER4_uc009vsf.2_RNA	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	254					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Silent	SNP	26524860	26524860	2809	1	C	A	A	32	32	CATSPER4	A	2	2
DHDDS	79947	broad.mit.edu	37	1	26772826	26772826	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26772826G>T	uc001bml.2	+	5	464	c.343G>T	c.(343-345)GGG>TGG	p.G115W	DHDDS_uc001bmk.2_Missense_Mutation_p.G115W|DHDDS_uc001bmm.2_Missense_Mutation_p.G22W|DHDDS_uc001bmn.2_Intron|DHDDS_uc010ofd.1_Missense_Mutation_p.G115W	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	115							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)														---	---	---	---	capture		Missense_Mutation	SNP	26772826	26772826	4657	1	G	T	T	47	47	DHDDS	T	2	2
GRIK3	2899	broad.mit.edu	37	1	37356697	37356697	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37356697C>A	uc001caz.2	-	2	251	c.116G>T	c.(115-117)GGA>GTA	p.G39V	GRIK3_uc001cba.1_Missense_Mutation_p.G39V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	39	Extracellular (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	37356697	37356697	7054	1	C	A	A	30	30	GRIK3	A	2	2
KIAA0467	23334	broad.mit.edu	37	1	43904728	43904728	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43904728C>A	uc001cjk.1	+	33	4521	c.4059C>A	c.(4057-4059)CCC>CCA	p.P1353P		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	hypothetical protein LOC23334	2252						peroxisome					0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Silent	SNP	43904728	43904728	8485	1	C	A	A	21	21	KIAA0467	A	2	2
ST3GAL3	6487	broad.mit.edu	37	1	44386152	44386152	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44386152C>A	uc001ckc.2	+	10	998	c.821C>A	c.(820-822)CCA>CAA	p.P274Q	ST3GAL3_uc001cjz.2_Missense_Mutation_p.P289Q|ST3GAL3_uc001cka.2_Intron|ST3GAL3_uc001ckb.2_Missense_Mutation_p.P343Q|ST3GAL3_uc001ckd.2_Missense_Mutation_p.P328Q|ST3GAL3_uc001cke.2_Missense_Mutation_p.P258Q|ST3GAL3_uc001ckf.2_Missense_Mutation_p.P312Q|ST3GAL3_uc001ckg.2_Intron|ST3GAL3_uc001ckh.2_Intron|ST3GAL3_uc001cki.2_Intron|ST3GAL3_uc009vwv.2_Intron|ST3GAL3_uc001ckj.2_RNA|ST3GAL3_uc009vww.2_RNA|ST3GAL3_uc001ckk.2_Missense_Mutation_p.P243Q|ST3GAL3_uc009vwy.2_Missense_Mutation_p.P180Q|ST3GAL3_uc009vwx.2_Intron|ST3GAL3_uc001ckm.2_Intron|ST3GAL3_uc001ckl.2_Intron|ST3GAL3_uc009vwz.2_Missense_Mutation_p.P48Q|ST3GAL3_uc001ckn.2_Intron|ST3GAL3_uc001ckp.2_Intron|ST3GAL3_uc001cko.2_Intron|ST3GAL3_uc009vxa.2_Missense_Mutation_p.P61Q|ST3GAL3_uc001ckq.2_Intron|ST3GAL3_uc001ckr.2_Intron|ST3GAL3_uc009vxb.2_Intron	NM_006279	NP_006270	Q11203	SIAT6_HUMAN	sialyltransferase 6 isoform j	274	Lumenal (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			ovary(3)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)																---	---	---	---	capture		Missense_Mutation	SNP	44386152	44386152	15734	1	C	A	A	21	21	ST3GAL3	A	2	2
MMACHC	25974	broad.mit.edu	37	1	45974856	45974856	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45974856G>T	uc009vxv.2	+	4	967	c.818G>T	c.(817-819)AGG>ATG	p.R273M	MMACHC_uc001cny.2_RNA	NM_015506	NP_056321	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency)	273							cobalamin binding				0	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---	capture		Missense_Mutation	SNP	45974856	45974856	10031	1	G	T	T	35	35	MMACHC	T	2	2
USP24	23358	broad.mit.edu	37	1	55589226	55589226	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55589226C>A	uc001cyg.3	-	33	3690	c.3690G>T	c.(3688-3690)GCG>GCT	p.A1230A		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1390					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---	capture		Silent	SNP	55589226	55589226	17618	1	C	A	A	23	23	USP24	A	1	1
C8B	732	broad.mit.edu	37	1	57422544	57422544	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57422544C>A	uc001cyp.2	-	3	356	c.289G>T	c.(289-291)GGG>TGG	p.G97W	C8B_uc010oon.1_Missense_Mutation_p.G35W|C8B_uc010ooo.1_Missense_Mutation_p.G45W	NM_000066	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	97	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				central_nervous_system(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	57422544	57422544	2526	1	C	A	A	21	21	C8B	A	2	2
IL12RB2	3595	broad.mit.edu	37	1	67861682	67861682	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67861682C>A	uc001ddu.2	+	16	3139	c.2499C>A	c.(2497-2499)CCC>CCA	p.P833P	IL12RB2_uc010oqi.1_3'UTR|IL12RB2_uc010oqj.1_3'UTR|IL12RB2_uc010oqk.1_RNA|IL12RB2_uc010oql.1_Silent_p.P747P|IL12RB2_uc010oqm.1_3'UTR|IL12RB2_uc010oqn.1_RNA	NM_001559	NP_001550	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2 precursor	833	Cytoplasmic (Potential).				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	67861682	67861682	7928	1	C	A	A	24	24	IL12RB2	A	2	2
COL24A1	255631	broad.mit.edu	37	1	86523649	86523649	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86523649C>A	uc001dlj.2	-	10	1858	c.1816G>T	c.(1816-1818)GGA>TGA	p.G606*	COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Nonsense_Mutation_p.G606*	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1 precursor	606	Collagen-like 2.				cell adhesion	collagen	extracellular matrix structural constituent			ovary(3)|central_nervous_system(1)|skin(1)	5				all cancers(265;0.0627)|Epithelial(280;0.0689)														---	---	---	---	capture		Nonsense_Mutation	SNP	86523649	86523649	3821	1	C	A	A	21	21	COL24A1	A	5	2
WDR47	22911	broad.mit.edu	37	1	109553776	109553776	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109553776G>T	uc001dwj.2	-	5	1268	c.892C>A	c.(892-894)CCA>ACA	p.P298T	WDR47_uc001dwl.2_Missense_Mutation_p.P305T|WDR47_uc001dwi.2_Missense_Mutation_p.P298T|WDR47_uc001dwk.2_Missense_Mutation_p.P270T|WDR47_uc010ovf.1_Missense_Mutation_p.P225T	NM_001142551	NP_001136023	O94967	WDR47_HUMAN	WD repeat domain 47 isoform 3	298				P -> Q (in Ref. 5; AAH39254).						ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	109553776	109553776	17873	1	G	T	T	43	43	WDR47	T	2	2
DCLRE1B	64858	broad.mit.edu	37	1	114453982	114453982	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114453982C>A	uc001eeg.2	+	4	939	c.768C>A	c.(766-768)CCC>CCA	p.P256P	DCLRE1B_uc001eeh.2_Silent_p.P130P|DCLRE1B_uc001eei.2_Silent_p.P130P	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B (PSO2 homolog, S.	256					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		Silent	SNP	114453982	114453982	4466	1	C	A	A	21	21	DCLRE1B	A	2	2
TARS2	80222	broad.mit.edu	37	1	150477118	150477118	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150477118G>T	uc001euq.2	+	15	1736	c.1729G>T	c.(1729-1731)GCC>TCC	p.A577S	TARS2_uc001eur.2_Missense_Mutation_p.A495S|TARS2_uc009wlt.2_Missense_Mutation_p.A203S|TARS2_uc009wls.2_Missense_Mutation_p.A447S	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial	577					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			ovary(1)	1	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)													---	---	---	---	capture		Missense_Mutation	SNP	150477118	150477118	16082	1	G	T	T	46	46	TARS2	T	2	2
ADAMTSL4	54507	broad.mit.edu	37	1	150526143	150526143	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150526143C>A	uc001eux.2	+	6	912	c.676C>A	c.(676-678)CCC>ACC	p.P226T	ADAMTSL4_uc001euw.2_Missense_Mutation_p.P226T|ADAMTSL4_uc009wlw.2_Missense_Mutation_p.P226T|ADAMTSL4_uc010pcg.1_Missense_Mutation_p.P226T	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	thrombospondin repeat containing 1 isoform 1	226					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			ovary(1)|skin(1)	2	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	150526143	150526143	278	1	C	A	A	22	22	ADAMTSL4	A	2	2
LCE1F	353137	broad.mit.edu	37	1	152748937	152748937	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152748937C>A	uc010pdv.1	+	1	90	c.90C>A	c.(88-90)CCC>CCA	p.P30P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	30	Pro-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Silent	SNP	152748937	152748937	8987	1	C	A	A	22	22	LCE1F	A	2	2
DENND4B	9909	broad.mit.edu	37	1	153914391	153914391	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153914391G>T	uc001fdd.1	-	6	1410	c.1009C>A	c.(1009-1011)CTT>ATT	p.L337I		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	337	DENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	153914391	153914391	4613	1	G	T	T	35	35	DENND4B	T	2	2
FLAD1	80308	broad.mit.edu	37	1	154960632	154960632	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154960632C>A	uc001fgf.1	+	2	778	c.424C>A	c.(424-426)CTA>ATA	p.L142I	FLAD1_uc001fgc.2_Missense_Mutation_p.L43I|FLAD1_uc001fgd.1_Missense_Mutation_p.L142I|FLAD1_uc001fge.1_Missense_Mutation_p.L45I|FLAD1_uc001fgg.1_Missense_Mutation_p.L45I|FLAD1_uc001fgh.1_5'UTR	NM_025207	NP_079483	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase isoform	142	Molybdenum cofactor biosynthesis protein- like.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			ovary(2)|skin(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---	capture		Missense_Mutation	SNP	154960632	154960632	6158	1	C	A	A	24	24	FLAD1	A	2	2
NES	10763	broad.mit.edu	37	1	156640754	156640754	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156640754C>A	uc001fpq.2	-	4	3359	c.3226G>T	c.(3226-3228)GAC>TAC	p.D1076Y		NM_006617	NP_006608	P48681	NEST_HUMAN	nestin	1076	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			ovary(6)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156640754	156640754	10736	1	C	A	A	29	29	NES	A	2	2
INSRR	3645	broad.mit.edu	37	1	156814392	156814392	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156814392G>T	uc010pht.1	-	14	2853	c.2599C>A	c.(2599-2601)CGT>AGT	p.R867S	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	867	Fibronectin type-III 3.|Extracellular (Potential).				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1)	20	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156814392	156814392	8075	1	G	T	T	39	39	INSRR	T	1	1
CD1B	910	broad.mit.edu	37	1	158298754	158298754	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158298754A>T	uc001frx.2	-	5	1045	c.937T>A	c.(937-939)TTG>ATG	p.L313M	CD1B_uc001frw.2_Missense_Mutation_p.L151M	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	313	Helical; (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)																	---	---	---	---	capture		Missense_Mutation	SNP	158298754	158298754	3102	1	A	T	T	3	3	CD1B	T	4	4
FCER1A	2205	broad.mit.edu	37	1	159275872	159275872	+	Silent	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159275872G>A	uc001ftq.2	+	5	525	c.426G>A	c.(424-426)AAG>AAA	p.K142K		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	142	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)													---	---	---	---	capture		Silent	SNP	159275872	159275872	6011	1	G	A	A	35	35	FCER1A	A	2	2
GPR161	23432	broad.mit.edu	37	1	168056836	168056836	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168056836C>A	uc001gfc.2	-	7	1625	c.1311G>T	c.(1309-1311)GTG>GTT	p.V437V	GPR161_uc001gfb.2_Silent_p.V305V|GPR161_uc010pll.1_Silent_p.V347V|GPR161_uc010plm.1_Silent_p.V323V|GPR161_uc009wvo.2_Silent_p.V454V|GPR161_uc001gfd.2_Silent_p.V437V|GPR161_uc010pln.1_Silent_p.V457V	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	437	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)																	---	---	---	---	capture		Silent	SNP	168056836	168056836	6940	1	C	A	A	21	21	GPR161	A	2	2
DHX9	1660	broad.mit.edu	37	1	182821383	182821383	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182821383C>A	uc001gpr.2	+	4	431	c.268C>A	c.(268-270)CCA>ACA	p.P90T	DHX9_uc001gps.2_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	90	Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	182821383	182821383	4695	1	C	A	A	22	22	DHX9	A	2	2
NCF2	4688	broad.mit.edu	37	1	183559390	183559390	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183559390G>T	uc001gqj.3	-	1	350	c.75C>A	c.(73-75)GCC>GCA	p.A25A	NCF2_uc010pod.1_Silent_p.A25A|NCF2_uc010poe.1_Silent_p.A25A|NCF2_uc001gqk.3_Silent_p.A25A	NM_000433	NP_000424	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	25					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	183559390	183559390	10616	1	G	T	T	43	43	NCF2	T	2	2
EDEM3	80267	broad.mit.edu	37	1	184695505	184695505	+	Missense_Mutation	SNP	T	C	C	rs142115161		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:184695505T>C	uc010pok.1	-	7	892	c.631A>G	c.(631-633)ATC>GTC	p.I211V	EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.I211V|EDEM3_uc001gqy.2_Missense_Mutation_p.I134V	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like	211					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	184695505	184695505	5100	1	T	C	C	51	51	EDEM3	C	4	4
LHX9	56956	broad.mit.edu	37	1	197898339	197898339	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197898339A>T	uc001guk.1	+	5	1581	c.1144A>T	c.(1144-1146)AGC>TGC	p.S382C	LHX9_uc001gui.1_Missense_Mutation_p.S373C|LHX9_uc001guj.1_Intron	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	LIM homeobox 9 isoform 1	382					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	197898339	197898339	9103	1	A	T	T	7	7	LHX9	T	4	4
PTPRC	5788	broad.mit.edu	37	1	198668711	198668711	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198668711C>G	uc001gur.1	+	5	491	c.311C>G	c.(310-312)ACG>AGG	p.T104R	PTPRC_uc001gus.1_Missense_Mutation_p.T104R|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Missense_Mutation_p.T40R|PTPRC_uc009wzf.1_Missense_Mutation_p.T40R|PTPRC_uc010ppg.1_Missense_Mutation_p.T40R|PTPRC_uc001guu.1_Missense_Mutation_p.T147R|PTPRC_uc001guv.1_RNA|PTPRC_uc001guw.1_RNA	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	104	Extracellular (Potential).				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	198668711	198668711	13254	1	C	G	G	19	19	PTPRC	G	3	3
PPP1R15B	84919	broad.mit.edu	37	1	204375323	204375323	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204375323T>C	uc001hav.3	-	2	2444	c.2039A>G	c.(2038-2040)GAA>GGA	p.E680G		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	680					regulation of translation					ovary(1)|pancreas(1)	2	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)															---	---	---	---	capture		Missense_Mutation	SNP	204375323	204375323	12799	1	T	C	C	62	62	PPP1R15B	C	4	4
ACBD3	64746	broad.mit.edu	37	1	226334402	226334402	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226334402G>T	uc001hpy.2	-	8	1543	c.1496C>A	c.(1495-1497)CCA>CAA	p.P499Q		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	499	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)														---	---	---	---	capture		Missense_Mutation	SNP	226334402	226334402	124	1	G	T	T	47	47	ACBD3	T	2	2
RYR2	6262	broad.mit.edu	37	1	237755079	237755079	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237755079C>T	uc001hyl.1	+	32	4321	c.4201C>T	c.(4201-4203)CAT>TAT	p.H1401Y		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1401	Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture		Missense_Mutation	SNP	237755079	237755079	14249	1	C	T	T	21	21	RYR2	T	2	2
MAP1LC3C	440738	broad.mit.edu	37	1	242161882	242161882	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242161882G>A	uc001hzk.2	-	3	230	c.155C>T	c.(154-156)CCG>CTG	p.P52L		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	52					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)													OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	242161882	242161882	9616	1	G	A	A	39	39	MAP1LC3C	A	1	1
OR2W5	441932	broad.mit.edu	37	1	247655381	247655381	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247655381G>T	uc001icz.1	+	1	952	c.952G>T	c.(952-954)GGA>TGA	p.G318*		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	318					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		Nonsense_Mutation	SNP	247655381	247655381	11440	1	G	T	T	43	43	OR2W5	T	5	2
OR6F1	343169	broad.mit.edu	37	1	247875729	247875729	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875729G>C	uc001idj.1	-	1	329	c.329C>G	c.(328-330)ACA>AGA	p.T110R		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	110	Helical; Name=3; (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;0.0168)															---	---	---	---	capture		Missense_Mutation	SNP	247875729	247875729	11611	1	G	C	C	48	48	OR6F1	C	3	3
OR2T33	391195	broad.mit.edu	37	1	248436338	248436338	+	Missense_Mutation	SNP	G	C	C	rs147622928		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248436338G>C	uc010pzi.1	-	1	779	c.779C>G	c.(778-780)CCC>CGC	p.P260R		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	260	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|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;0.0245)															---	---	---	---	capture		Missense_Mutation	SNP	248436338	248436338	11430	1	G	C	C	43	43	OR2T33	C	3	3
OR2T1	26696	broad.mit.edu	37	1	248569858	248569858	+	Missense_Mutation	SNP	G	T	T	rs141385938	by1000genomes	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248569858G>T	uc010pzm.1	+	1	563	c.563G>T	c.(562-564)CGC>CTC	p.R188L		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	188	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(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	248569858	248569858	11422	1	G	T	T	38	38	OR2T1	T	1	1
SEPHS1	22929	broad.mit.edu	37	10	13361258	13361258	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13361258C>A	uc001imk.2	-	9	1422	c.1063G>T	c.(1063-1065)GGG>TGG	p.G355W	SEPHS1_uc001imh.2_Missense_Mutation_p.G279W|SEPHS1_uc010qbs.1_Missense_Mutation_p.G307W|SEPHS1_uc001imi.2_Missense_Mutation_p.G353W|SEPHS1_uc001imj.2_3'UTR|SEPHS1_uc010qbt.1_Missense_Mutation_p.G288W	NM_012247	NP_036379	P49903	SPS1_HUMAN	selenophosphate synthetase 1	355					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	13361258	13361258	14540	10	C	A	A	21	21	SEPHS1	A	2	2
MLLT10	8028	broad.mit.edu	37	10	21962454	21962454	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21962454G>T	uc001iqs.2	+	11	1575	c.1227G>T	c.(1225-1227)GGG>GGT	p.G409G	MLLT10_uc001iqt.2_Silent_p.G409G|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Silent_p.G409G|MLLT10_uc001ira.2_Intron|MLLT10_uc001irb.2_5'Flank|MLLT10_uc001iqz.2_Silent_p.G164G	NM_004641	NP_004632	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	409	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(1)|skin(1)	2								T	MLL|PICALM|CDK6	AL								---	---	---	---	capture		Silent	SNP	21962454	21962454	10016	10	G	T	T	43	43	MLLT10	T	2	2
LYZL2	119180	broad.mit.edu	37	10	30915048	30915048	+	Missense_Mutation	SNP	T	A	A	rs143775752	byFrequency	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30915048T>A	uc001ivk.2	-	3	435	c.422A>T	c.(421-423)CAC>CTC	p.H141L		NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	95					cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0		Prostate(175;0.151)																---	---	---	---	capture		Missense_Mutation	SNP	30915048	30915048	9509	10	T	A	A	59	59	LYZL2	A	4	4
ZEB1	6935	broad.mit.edu	37	10	31791294	31791294	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31791294A>T	uc001ivs.3	+	4	401	c.338A>T	c.(337-339)GAG>GTG	p.E113V	ZEB1_uc001ivr.3_5'UTR|ZEB1_uc010qee.1_5'UTR|ZEB1_uc010qef.1_5'UTR|ZEB1_uc009xlh.1_RNA|ZEB1_uc009xli.1_RNA|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivt.3_5'UTR|ZEB1_uc001ivu.3_Missense_Mutation_p.E114V|ZEB1_uc001ivv.3_Missense_Mutation_p.E93V|ZEB1_uc010qeh.1_Missense_Mutation_p.E46V|ZEB1_uc009xll.2_RNA|ZEB1_uc009xlm.1_RNA|ZEB1_uc009xln.1_RNA|ZEB1_uc009xlo.1_Missense_Mutation_p.E96V|ZEB1_uc009xlp.2_Missense_Mutation_p.E97V	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	113					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---	capture		Missense_Mutation	SNP	31791294	31791294	18211	10	A	T	T	11	11	ZEB1	T	4	4
TMEM72	643236	broad.mit.edu	37	10	45430487	45430487	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45430487G>A	uc001jbn.2	+	5	930	c.733G>A	c.(733-735)GAG>AAG	p.E245K	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_Missense_Mutation_p.E127K	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	245						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	45430487	45430487	16740	10	G	A	A	45	45	TMEM72	A	2	2
ALOX5	240	broad.mit.edu	37	10	45878057	45878057	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45878057G>T	uc001jce.2	+	2	376	c.277G>T	c.(277-279)GGG>TGG	p.G93W	ALOX5_uc009xmt.2_Missense_Mutation_p.G93W|ALOX5_uc010qfg.1_Missense_Mutation_p.G93W	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	93	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)													---	---	---	---	capture		Missense_Mutation	SNP	45878057	45878057	543	10	G	T	T	39	39	ALOX5	T	1	1
FRMPD2	143162	broad.mit.edu	37	10	49457087	49457087	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49457087C>A	uc001jgi.2	-	3	393	c.286G>T	c.(286-288)GAT>TAT	p.D96Y	FRMPD2_uc001jgh.2_Missense_Mutation_p.D87Y|FRMPD2_uc001jgj.2_Missense_Mutation_p.D96Y	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	96	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)														---	---	---	---	capture		Missense_Mutation	SNP	49457087	49457087	6308	10	C	A	A	30	30	FRMPD2	A	2	2
SLC18A3	6572	broad.mit.edu	37	10	50820303	50820303	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50820303G>T	uc001jhw.2	+	1	1957	c.1517G>T	c.(1516-1518)GGC>GTC	p.G506V	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	vesicular acetylcholine transporter	506	Cytoplasmic (Potential).				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	50820303	50820303	14923	10	G	T	T	42	42	SLC18A3	T	2	2
CHAT	1103	broad.mit.edu	37	10	50872897	50872897	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:50872897C>A	uc001jhz.2	+	15	2205	c.2052C>A	c.(2050-2052)CCC>CCA	p.P684P	CHAT_uc001jhv.1_Silent_p.P566P|CHAT_uc001jhx.1_Silent_p.P566P|CHAT_uc001jhy.1_Silent_p.P566P|CHAT_uc001jia.2_Silent_p.P566P|CHAT_uc010qgs.1_Intron	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	684					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	50872897	50872897	3447	10	C	A	A	22	22	CHAT	A	2	2
A1CF	29974	broad.mit.edu	37	10	52595861	52595861	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:52595861C>A	uc001jjj.2	-	6	765	c.577G>T	c.(577-579)GCC>TCC	p.A193S	A1CF_uc010qhn.1_Missense_Mutation_p.A201S|A1CF_uc001jji.2_Missense_Mutation_p.A193S|A1CF_uc001jjh.2_Missense_Mutation_p.A201S|A1CF_uc010qho.1_Missense_Mutation_p.A201S|A1CF_uc009xov.2_Missense_Mutation_p.A193S	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	193	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	52595861	52595861	2	10	C	A	A	25	25	A1CF	A	2	2
MBL2	4153	broad.mit.edu	37	10	54527926	54527926	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:54527926G>T	uc001jjt.2	-	4	783	c.718C>A	c.(718-720)CAT>AAT	p.H240N		NM_000242	NP_000233	P11226	MBL2_HUMAN	soluble mannose-binding lectin precursor	240	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	54527926	54527926	9738	10	G	T	T	47	47	MBL2	T	2	2
IPMK	253430	broad.mit.edu	37	10	59955916	59955916	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:59955916G>T	uc001jkb.2	-	6	1495	c.1172C>A	c.(1171-1173)CCT>CAT	p.P391H		NM_152230	NP_689416	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	391						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	59955916	59955916	8093	10	G	T	T	35	35	IPMK	T	2	2
RUFY2	55680	broad.mit.edu	37	10	70161474	70161474	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70161474A>T	uc001job.2	-	3	631	c.304T>A	c.(304-306)TAC>AAC	p.Y102N	RUFY2_uc001jnz.1_RNA|RUFY2_uc001joc.2_Missense_Mutation_p.Y67N|RUFY2_uc010qiw.1_Missense_Mutation_p.Y9N|RUFY2_uc001jod.1_Missense_Mutation_p.Y67N|RUFY2_uc009xpv.1_5'UTR|RUFY2_uc001joe.1_Missense_Mutation_p.Y67N	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain-containing 2 isoform a	116	RUN.					nucleus	metal ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	70161474	70161474	14219	10	A	T	T	13	13	RUFY2	T	4	4
CBARA1	10367	broad.mit.edu	37	10	74267937	74267937	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74267937T>C	uc001jtb.1	-	7	767	c.634A>G	c.(634-636)ATT>GTT	p.I212V	CBARA1_uc010qjw.1_5'UTR|CBARA1_uc010qjx.1_Intron|CBARA1_uc009xqo.1_RNA	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN	calcium binding atopy-related autoantigen 1	210					calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74267937	74267937	2815	10	T	C	C	51	51	CBARA1	C	4	4
VDAC2	7417	broad.mit.edu	37	10	76973784	76973784	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76973784G>T	uc001jwz.2	+	4	265	c.106G>T	c.(106-108)GGG>TGG	p.G36W	VDAC2_uc010qld.1_5'UTR|VDAC2_uc001jxa.2_Missense_Mutation_p.G51W|VDAC2_uc010qle.1_5'UTR	NM_003375	NP_003366	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	36						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)													---	---	---	---	capture		Missense_Mutation	SNP	76973784	76973784	17714	10	G	T	T	47	47	VDAC2	T	2	2
RPP30	10556	broad.mit.edu	37	10	92631758	92631758	+	Silent	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92631758A>T	uc009xtx.2	+	1	50	c.15A>T	c.(13-15)GCA>GCT	p.A5A	RPP30_uc001khd.2_Silent_p.A5A|RPP30_uc010qnj.1_Silent_p.A5A	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	5					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0																		---	---	---	---	capture		Silent	SNP	92631758	92631758	14091	10	A	T	T	7	7	RPP30	T	4	4
ANKRD1	27063	broad.mit.edu	37	10	92679970	92679970	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92679970G>T	uc001khe.1	-	2	411	c.163C>A	c.(163-165)CTG>ATG	p.L55M		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	cardiac ankyrin repeat protein	55					cellular lipid metabolic process|defense response|signal transduction		DNA binding				0		Colorectal(252;0.0475)																---	---	---	---	capture		Missense_Mutation	SNP	92679970	92679970	640	10	G	T	T	35	35	ANKRD1	T	2	2
GPR120	338557	broad.mit.edu	37	10	95347234	95347234	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95347234C>A	uc010qnt.1	+	4	1058	c.1002C>A	c.(1000-1002)CCC>CCA	p.P334P	GPR120_uc010qnu.1_Silent_p.P318P	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	G protein-coupled receptor 120	334	Cytoplasmic (Potential).				negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding				0		Colorectal(252;0.122)																---	---	---	---	capture		Silent	SNP	95347234	95347234	6910	10	C	A	A	21	21	GPR120	A	2	2
SORBS1	10580	broad.mit.edu	37	10	97154790	97154790	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97154790G>T	uc001kkp.2	-	12	1310	c.1265C>A	c.(1264-1266)CCT>CAT	p.P422H	SORBS1_uc001kkl.2_Missense_Mutation_p.P45H|SORBS1_uc001kkn.2_Intron|SORBS1_uc001kkm.2_Missense_Mutation_p.P278H|SORBS1_uc001kko.2_Missense_Mutation_p.P422H|SORBS1_uc001kkq.2_Intron|SORBS1_uc001kkr.2_Intron|SORBS1_uc001kks.2_Intron|SORBS1_uc001kkt.2_Intron|SORBS1_uc001kku.2_Intron|SORBS1_uc001kkv.2_Intron|SORBS1_uc001kkw.2_Intron|SORBS1_uc010qoe.1_Intron|SORBS1_uc010qof.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1 isoform 3	422	SoHo.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			breast(1)	1		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)														---	---	---	---	capture		Missense_Mutation	SNP	97154790	97154790	15427	10	G	T	T	35	35	SORBS1	T	2	2
ZNF518A	9849	broad.mit.edu	37	10	97917297	97917297	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97917297G>T	uc001klp.2	+	6	2075	c.1218G>T	c.(1216-1218)GAG>GAT	p.E406D	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.2_Missense_Mutation_p.E406D|ZNF518A_uc001klr.2_Missense_Mutation_p.E406D	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	zinc finger protein 518	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)														---	---	---	---	capture		Missense_Mutation	SNP	97917297	97917297	18556	10	G	T	T	35	35	ZNF518A	T	2	2
CWF19L1	55280	broad.mit.edu	37	10	102013297	102013297	+	Splice_Site	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102013297C>A	uc001kqq.1	-	6	592	c.505_splice	c.e6-1	p.G169_splice	CWF19L1_uc001kqs.1_Splice_Site|CWF19L1_uc001kqr.1_Splice_Site_p.G169_splice|CWF19L1_uc001kqt.1_Splice_Site|CWF19L1_uc010qpn.1_Splice_Site_p.G32_splice	NM_018294	NP_060764			CWF19-like 1, cell cycle control								catalytic activity				0		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)														---	---	---	---	capture		Splice_Site	SNP	102013297	102013297	4231	10	C	A	A	24	24	CWF19L1	A	5	2
SORCS1	114815	broad.mit.edu	37	10	108432656	108432656	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108432656C>G	uc001kym.2	-	15	2036	c.2028G>C	c.(2026-2028)GAG>GAC	p.E676D	SORCS1_uc001kyl.2_Missense_Mutation_p.E676D|SORCS1_uc009xxs.2_Missense_Mutation_p.E676D|SORCS1_uc001kyn.1_Missense_Mutation_p.E676D|SORCS1_uc001kyo.2_Missense_Mutation_p.E676D	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	676	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---	capture		Missense_Mutation	SNP	108432656	108432656	15430	10	C	G	G	24	24	SORCS1	G	3	3
TACC2	10579	broad.mit.edu	37	10	123842522	123842522	+	Silent	SNP	C	A	A	rs146425124	byFrequency	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123842522C>A	uc001lfv.2	+	4	867	c.507C>A	c.(505-507)GCC>GCA	p.A169A	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.A169A|TACC2_uc010qtv.1_Silent_p.A169A	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	169						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---	capture		Silent	SNP	123842522	123842522	16023	10	C	A	A	23	23	TACC2	A	1	1
C10orf137	26098	broad.mit.edu	37	10	127418024	127418024	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127418024A>G	uc001liq.1	+	8	1285	c.992A>G	c.(991-993)TAC>TGC	p.Y331C	C10orf137_uc001lin.2_Missense_Mutation_p.Y297C|C10orf137_uc001lio.1_Missense_Mutation_p.Y297C|C10orf137_uc001lip.1_Missense_Mutation_p.T30A	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---	capture		Missense_Mutation	SNP	127418024	127418024	1631	10	A	G	G	14	14	C10orf137	G	4	4
JAKMIP3	282973	broad.mit.edu	37	10	133978215	133978215	+	Silent	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133978215A>G	uc001lkx.3	+	20	2460	c.2460A>G	c.(2458-2460)AGA>AGG	p.R820R	JAKMIP3_uc009yba.1_Silent_p.R257R	NM_001105521	NP_001098991			Janus kinase and microtubule interacting protein											breast(1)	1		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)														---	---	---	---	capture		Silent	SNP	133978215	133978215	8246	10	A	G	G	10	10	JAKMIP3	G	4	4
NUP98	4928	broad.mit.edu	37	11	3803316	3803316	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3803316C>A	uc001lyh.2	-	2	323	c.32G>T	c.(31-33)GGG>GTG	p.G11V	NUP98_uc001lyi.2_Missense_Mutation_p.G11V|NUP98_uc001lyj.1_Missense_Mutation_p.G11V|NUP98_uc001lyk.1_Missense_Mutation_p.G11V|NUP98_uc010qxv.1_Missense_Mutation_p.G11V	NM_016320	NP_057404	P52948	NUP98_HUMAN	nucleoporin 98kD isoform 1	11	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)				T	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11	AML								---	---	---	---	capture		Missense_Mutation	SNP	3803316	3803316	11178	11	C	A	A	22	22	NUP98	A	2	2
OR52E6	390078	broad.mit.edu	37	11	5862634	5862634	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5862634A>T	uc010qzq.1	-	1	494	c.494T>A	c.(493-495)CTC>CAC	p.L165H	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	165	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5862634	5862634	11527	11	A	T	T	11	11	OR52E6	T	4	4
FAM160A2	84067	broad.mit.edu	37	11	6245017	6245017	+	Silent	SNP	T	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6245017T>A	uc001mcl.3	-	3	959	c.600A>T	c.(598-600)CCA>CCT	p.P200P	FAM160A2_uc001mck.3_Silent_p.P200P|FAM160A2_uc001mcm.2_Silent_p.P200P	NM_001098794	NP_001092264	Q8N612	F16A2_HUMAN	hypothetical protein LOC84067 isoform 2	200					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---	capture		Silent	SNP	6245017	6245017	5673	11	T	A	A	59	59	FAM160A2	A	4	4
WEE1	7465	broad.mit.edu	37	11	9608129	9608129	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9608129C>A	uc001mhs.2	+	9	1857	c.1604C>A	c.(1603-1605)CCA>CAA	p.P535Q	WEE1_uc001mht.2_Missense_Mutation_p.P321Q	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	535	Protein kinase.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity			central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	5				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)														---	---	---	---	capture		Missense_Mutation	SNP	9608129	9608129	17918	11	C	A	A	21	21	WEE1	A	2	2
SERGEF	26297	broad.mit.edu	37	11	18014479	18014479	+	Silent	SNP	T	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18014479T>G	uc001mnm.2	-	7	764	c.684A>C	c.(682-684)ACA>ACC	p.T228T	SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.T228T|SERGEF_uc010rcz.1_Silent_p.T114T|SERGEF_uc001mno.1_Silent_p.T114T	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	deafness locus associated putative guanine	228	RCC1 4.				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	18014479	18014479	14565	11	T	G	G	55	55	SERGEF	G	4	4
C11orf41	25758	broad.mit.edu	37	11	33565038	33565038	+	Silent	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33565038C>T	uc001mup.3	+	1	1162	c.1038C>T	c.(1036-1038)GGC>GGT	p.G346G	C11orf41_uc001mun.1_Silent_p.G346G	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	346						integral to membrane				ovary(2)	2																OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	33565038	33565038	1679	11	C	T	T	28	28	C11orf41	T	2	2
SLC35C1	55343	broad.mit.edu	37	11	45827491	45827491	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:45827491C>A	uc001nbp.2	+	1	851	c.139C>A	c.(139-141)CTC>ATC	p.L47I	SLC35C1_uc001nbo.2_Missense_Mutation_p.L34I|SLC35C1_uc010rgm.1_Missense_Mutation_p.L34I	NM_018389	NP_060859	Q96A29	FUCT1_HUMAN	GDP-fucose transporter 1 isoform a	47	Helical; (Potential).					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity				0				GBM - Glioblastoma multiforme(35;0.227)														---	---	---	---	capture		Missense_Mutation	SNP	45827491	45827491	15076	11	C	A	A	24	24	SLC35C1	A	2	2
SPRYD5	84767	broad.mit.edu	37	11	55655543	55655543	+	Silent	SNP	T	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55655543T>A	uc010rip.1	+	4	635	c.543T>A	c.(541-543)GCT>GCA	p.A181A	SPRYD5_uc010riq.1_Silent_p.A38A	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	SPRY domain containing 5	181						intracellular	zinc ion binding				0		all_epithelial(135;0.226)																---	---	---	---	capture		Silent	SNP	55655543	55655543	15625	11	T	A	A	55	55	SPRYD5	A	4	4
OR5T1	390155	broad.mit.edu	37	11	56043875	56043875	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56043875G>T	uc001nio.1	+	1	761	c.761G>T	c.(760-762)GGA>GTA	p.G254V		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T,	254	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)	3	Esophageal squamous(21;0.00448)																	---	---	---	---	capture		Missense_Mutation	SNP	56043875	56043875	11591	11	G	T	T	41	41	OR5T1	T	2	2
OR5M10	390167	broad.mit.edu	37	11	56344723	56344723	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56344723G>C	uc001niz.1	-	1	475	c.475C>G	c.(475-477)CAG>GAG	p.Q159E		NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M,	159	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	56344723	56344723	11583	11	G	C	C	45	45	OR5M10	C	3	3
FAM111B	374393	broad.mit.edu	37	11	58892347	58892347	+	Silent	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58892347A>G	uc001nnl.2	+	4	1020	c.777A>G	c.(775-777)GTA>GTG	p.V259V	FAM111B_uc001nnm.2_Silent_p.V229V|FAM111B_uc010rko.1_Silent_p.V229V	NM_198947	NP_945185	Q6SJ93	F111B_HUMAN	hypothetical protein LOC374393 isoform a	259							catalytic activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	58892347	58892347	5597	11	A	G	G	16	16	FAM111B	G	4	4
SLC25A45	283130	broad.mit.edu	37	11	65144352	65144352	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65144352C>A	uc001odp.1	-	5	957	c.535G>T	c.(535-537)GGG>TGG	p.G179W	SLC25A45_uc009yqi.1_Missense_Mutation_p.G117W|SLC25A45_uc001odq.1_Missense_Mutation_p.G155W|SLC25A45_uc001odr.1_Missense_Mutation_p.G179W|SLC25A45_uc001ods.1_Missense_Mutation_p.G137W|SLC25A45_uc001odt.1_Missense_Mutation_p.G137W	NM_001077241	NP_001070709	Q8N413	S2545_HUMAN	solute carrier family 25, member 45 isoform b	179	Solcar 2.|Helical; Name=4; (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	65144352	65144352	15007	11	C	A	A	22	22	SLC25A45	A	2	2
PPFIA1	8500	broad.mit.edu	37	11	70118486	70118486	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70118486G>T	uc001opo.2	+	2	406	c.208G>T	c.(208-210)GAG>TAG	p.E70*	PPFIA1_uc001opn.1_Nonsense_Mutation_p.E70*|PPFIA1_uc001opp.2_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	70	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Nonsense_Mutation	SNP	70118486	70118486	12739	11	G	T	T	37	37	PPFIA1	T	5	1
PGM2L1	283209	broad.mit.edu	37	11	74082862	74082862	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74082862C>A	uc001ovb.1	-	3	576	c.280G>T	c.(280-282)GGG>TGG	p.G94W		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	94					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			ovary(1)	1	Breast(11;3.32e-06)																	---	---	---	---	capture		Missense_Mutation	SNP	74082862	74082862	12222	11	C	A	A	22	22	PGM2L1	A	2	2
C11orf82	220042	broad.mit.edu	37	11	82644903	82644903	+	Silent	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:82644903T>C	uc001ozt.2	+	6	2767	c.2523T>C	c.(2521-2523)GGT>GGC	p.G841G	C11orf82_uc010rsr.1_Silent_p.G540G|C11orf82_uc010rss.1_Silent_p.G540G|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	nitric oxide-inducible gene protein	841					apoptosis|cell cycle arrest	cytoplasm|nucleus				ovary(2)	2																		---	---	---	---	capture		Silent	SNP	82644903	82644903	1704	11	T	C	C	59	59	C11orf82	C	4	4
CHORDC1	26973	broad.mit.edu	37	11	89935578	89935578	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89935578C>G	uc001pdg.2	-	11	1404	c.994G>C	c.(994-996)GAT>CAT	p.D332H	CHORDC1_uc009yvz.2_Missense_Mutation_p.D313H	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain-containing	332					chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding				0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)																---	---	---	---	capture		Missense_Mutation	SNP	89935578	89935578	3499	11	C	G	G	32	32	CHORDC1	G	3	3
FAT3	120114	broad.mit.edu	37	11	92495063	92495063	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92495063C>A	uc001pdj.3	+	4	3728	c.3711C>A	c.(3709-3711)ACC>ACA	p.T1237T		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	1237	Cadherin 11.|Extracellular (Potential).				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---	capture		Silent	SNP	92495063	92495063	5927	11	C	A	A	21	21	FAT3	A	2	2
GRAMD1B	57476	broad.mit.edu	37	11	123477373	123477373	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123477373G>T	uc001pyx.2	+	10	1280	c.951G>T	c.(949-951)AAG>AAT	p.K317N	GRAMD1B_uc001pyw.2_Missense_Mutation_p.K324N|GRAMD1B_uc010rzw.1_Missense_Mutation_p.K277N|GRAMD1B_uc010rzx.1_Missense_Mutation_p.K277N|GRAMD1B_uc009zbe.1_Missense_Mutation_p.K313N|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	317						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)														---	---	---	---	capture		Missense_Mutation	SNP	123477373	123477373	7024	11	G	T	T	35	35	GRAMD1B	T	2	2
SCN3B	55800	broad.mit.edu	37	11	123504869	123504869	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123504869C>A	uc001pza.1	-	6	1037	c.630G>T	c.(628-630)GCG>GCT	p.A210A	SCN3B_uc001pzb.1_Silent_p.A210A	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	210	Cytoplasmic (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)														---	---	---	---	capture		Silent	SNP	123504869	123504869	14401	11	C	A	A	23	23	SCN3B	A	1	1
TMEM225	338661	broad.mit.edu	37	11	123754822	123754822	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123754822C>T	uc001pzi.2	-	3	631	c.423G>A	c.(421-423)ATG>ATA	p.M141I		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	141	Helical; (Potential).					integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	123754822	123754822	16683	11	C	T	T	17	17	TMEM225	T	2	2
OR10G4	390264	broad.mit.edu	37	11	123887173	123887173	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123887173G>T	uc010sac.1	+	1	892	c.892G>T	c.(892-894)GTG>TTG	p.V298L		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G,	298	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4		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;0.0401)														---	---	---	---	capture		Missense_Mutation	SNP	123887173	123887173	11307	11	G	T	T	48	48	OR10G4	T	2	2
ARHGAP32	9743	broad.mit.edu	37	11	128842965	128842965	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:128842965G>T	uc009zcp.2	-	21	3394	c.3394C>A	c.(3394-3396)CAT>AAT	p.H1132N	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.H91N|ARHGAP32_uc001qez.2_Missense_Mutation_p.H783N	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1132					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	128842965	128842965	893	11	G	T	T	47	47	ARHGAP32	T	2	2
GALNT8	26290	broad.mit.edu	37	12	4874599	4874599	+	Missense_Mutation	SNP	G	T	T	rs144271473	by1000genomes	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4874599G>T	uc001qne.1	+	10	1740	c.1648G>T	c.(1648-1650)GCC>TCC	p.A550S		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	550	Ricin B-type lectin.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	4874599	4874599	6483	12	G	T	T	42	42	GALNT8	T	2	2
USP5	8078	broad.mit.edu	37	12	6971705	6971705	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6971705G>T	uc001qri.3	+	14	1804	c.1745G>T	c.(1744-1746)TGG>TTG	p.W582L	USP5_uc001qrh.3_Missense_Mutation_p.W582L	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 isoform 1	582					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			lung(2)|breast(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	6971705	6971705	17645	12	G	T	T	47	47	USP5	T	2	2
CD163	9332	broad.mit.edu	37	12	7647710	7647710	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7647710C>T	uc001qsz.3	-	6	1515	c.1387G>A	c.(1387-1389)GAT>AAT	p.D463N	CD163_uc001qta.3_Missense_Mutation_p.D463N|CD163_uc009zfw.2_Missense_Mutation_p.D463N	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	463	SRCR 4.|Extracellular (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	7647710	7647710	3094	12	C	T	T	29	29	CD163	T	2	2
A2ML1	144568	broad.mit.edu	37	12	9001322	9001322	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9001322G>T	uc001quz.3	+	16	1938	c.1840G>T	c.(1840-1842)GGG>TGG	p.G614W	A2ML1_uc001qva.1_Missense_Mutation_p.G194W|A2ML1_uc010sgm.1_Missense_Mutation_p.G114W	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN	alpha-2-macroglobulin-like 1 precursor	458						extracellular space	endopeptidase inhibitor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	9001322	9001322	6	12	G	T	T	47	47	A2ML1	T	2	2
PRB3	5544	broad.mit.edu	37	12	11420874	11420874	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11420874G>T	uc001qzs.2	-	3	347	c.309C>A	c.(307-309)CCC>CCA	p.P103P	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	103	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.|3.					extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)															---	---	---	---	capture		Silent	SNP	11420874	11420874	12886	12	G	T	T	43	43	PRB3	T	2	2
WBP11	51729	broad.mit.edu	37	12	14940316	14940316	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14940316G>T	uc001rci.2	-	12	1770	c.1609C>A	c.(1609-1611)CCA>ACA	p.P537T		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	537	Pro-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	14940316	14940316	17830	12	G	T	T	43	43	WBP11	T	2	2
RERG	85004	broad.mit.edu	37	12	15262431	15262431	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15262431C>A	uc001rcs.2	-	4	353	c.213G>T	c.(211-213)GAG>GAT	p.E71D	RERG_uc001rct.2_Missense_Mutation_p.E71D|RERG_uc010shu.1_Missense_Mutation_p.E52D	NM_032918	NP_116307	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	71					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	15262431	15262431	13701	12	C	A	A	24	24	RERG	A	2	2
SLCO1C1	53919	broad.mit.edu	37	12	20858954	20858954	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:20858954G>T	uc001rej.3	+	5	698	c.343G>T	c.(343-345)GGG>TGG	p.G115W	SLCO1C1_uc010sii.1_Missense_Mutation_p.G115W|SLCO1C1_uc010sij.1_Missense_Mutation_p.G115W|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.G115W|SLCO1C1_uc010sik.1_Translation_Start_Site	NM_017435	NP_059131	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family,	115	Helical; Name=3; (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(5)|pancreas(1)|skin(1)	7	Esophageal squamous(101;0.149)																	---	---	---	---	capture		Missense_Mutation	SNP	20858954	20858954	15222	12	G	T	T	35	35	SLCO1C1	T	2	2
CMAS	55907	broad.mit.edu	37	12	22218072	22218072	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22218072G>T	uc001rfm.2	+	8	1211	c.1132G>T	c.(1132-1134)GAA>TAA	p.E378*	CMAS_uc001rfn.2_RNA	NM_018686	NP_061156	Q8NFW8	NEUA_HUMAN	cytidine monophospho-N-acetylneuraminic acid	378					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	22218072	22218072	3713	12	G	T	T	45	45	CMAS	T	5	2
CAPRIN2	65981	broad.mit.edu	37	12	30881609	30881609	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:30881609G>T	uc001rji.1	-	8	2506	c.1755C>A	c.(1753-1755)CCC>CCA	p.P585P	CAPRIN2_uc001rjf.1_Silent_p.P382P|CAPRIN2_uc001rjg.1_Silent_p.P252P|CAPRIN2_uc001rjh.1_Silent_p.P585P|CAPRIN2_uc001rjj.1_Silent_p.P252P|CAPRIN2_uc001rjk.3_Silent_p.P585P|CAPRIN2_uc001rjl.3_Silent_p.P585P|CAPRIN2_uc001rjm.1_Silent_p.P252P|CAPRIN2_uc001rjn.1_Silent_p.P252P	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	C1q domain containing 1 isoform 1	585					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			ovary(1)|central_nervous_system(1)	2	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-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	30881609	30881609	2755	12	G	T	T	47	47	CAPRIN2	T	2	2
BICD1	636	broad.mit.edu	37	12	32480579	32480579	+	Missense_Mutation	SNP	G	T	T	rs140303025		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32480579G>T	uc001rku.2	+	5	1271	c.1190G>T	c.(1189-1191)CGG>CTG	p.R397L	BICD1_uc001rkv.2_Missense_Mutation_p.R397L|BICD1_uc010skd.1_RNA	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 isoform 1	397	Potential.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			large_intestine(1)|central_nervous_system(1)	2	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)															---	---	---	---	capture		Missense_Mutation	SNP	32480579	32480579	1453	12	G	T	T	39	39	BICD1	T	1	1
C12orf40	283461	broad.mit.edu	37	12	40114794	40114794	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40114794C>A	uc001rmc.2	+	13	1867	c.1700C>A	c.(1699-1701)CCA>CAA	p.P567Q	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	567										ovary(6)	6																		---	---	---	---	capture		Missense_Mutation	SNP	40114794	40114794	1730	12	C	A	A	21	21	C12orf40	A	2	2
GXYLT1	283464	broad.mit.edu	37	12	42512879	42512879	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42512879C>G	uc001rms.3	-	3	634	c.409G>C	c.(409-411)GCT>CCT	p.A137P	GXYLT1_uc001rmt.3_Missense_Mutation_p.A106P	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	137	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	42512879	42512879	7183	12	C	G	G	28	28	GXYLT1	G	3	3
SENP1	29843	broad.mit.edu	37	12	48468171	48468171	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48468171G>T	uc001rqx.2	-	8	1322	c.876C>A	c.(874-876)CCC>CCA	p.P292P	SENP1_uc001rqw.2_Silent_p.P292P|SENP1_uc001rqy.2_Silent_p.P93P|SENP1_uc001rqz.2_Silent_p.P93P|SENP1_uc009zkx.2_Silent_p.P292P	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	292	His-rich.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)																---	---	---	---	capture		Silent	SNP	48468171	48468171	14532	12	G	T	T	43	43	SENP1	T	2	2
TUBA1B	10376	broad.mit.edu	37	12	49522643	49522643	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49522643G>T	uc001rtm.2	-	4	675	c.454C>A	c.(454-456)CTG>ATG	p.L152M	TUBA1B_uc001rto.2_Missense_Mutation_p.L117M|TUBA1B_uc001rtk.2_Missense_Mutation_p.L117M|TUBA1B_uc001rtl.2_Missense_Mutation_p.L117M|TUBA1B_uc001rtn.2_Translation_Start_Site|uc010smg.1_3'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	tubulin, alpha, ubiquitous	152					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	49522643	49522643	17299	12	G	T	T	35	35	TUBA1B	T	2	2
BIN2	51411	broad.mit.edu	37	12	51696919	51696919	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51696919C>A	uc001ryg.2	-	3	221	c.169G>T	c.(169-171)GGC>TGC	p.G57C	BIN2_uc009zlz.2_Missense_Mutation_p.G57C|BIN2_uc001ryh.2_Translation_Start_Site|BIN2_uc010sng.1_Missense_Mutation_p.G31C	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	57	BAR.					cytoplasm	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	51696919	51696919	1458	12	C	A	A	24	24	BIN2	A	2	2
ACVR1B	91	broad.mit.edu	37	12	52380615	52380615	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52380615G>C	uc001rzn.2	+	7	1192	c.1150G>C	c.(1150-1152)GAA>CAA	p.E384Q	ACVR1B_uc001rzl.2_Missense_Mutation_p.E384Q|ACVR1B_uc001rzm.2_Missense_Mutation_p.E384Q|ACVR1B_uc010snn.1_Missense_Mutation_p.E425Q	NM_004302	NP_004293	P36896	ACV1B_HUMAN	activin A receptor, type IB isoform a precursor	384	Protein kinase.|Cytoplasmic (Potential).				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1)	9				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	52380615	52380615	222	12	G	C	C	45	45	ACVR1B	C	3	3
KRT6B	3854	broad.mit.edu	37	12	52841120	52841120	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52841120A>T	uc001sak.2	-	9	1597	c.1549T>A	c.(1549-1551)TAT>AAT	p.Y517N		NM_005555	NP_005546	P04259	K2C6B_HUMAN	keratin 6B	517	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(357;0.083)														---	---	---	---	capture		Missense_Mutation	SNP	52841120	52841120	8796	12	A	T	T	15	15	KRT6B	T	4	4
HOXC5	3222	broad.mit.edu	37	12	54428081	54428081	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54428081C>A	uc001sew.2	+	2	549	c.474C>A	c.(472-474)TCC>TCA	p.S158S	HOXC5_uc001set.2_RNA|HOXC4_uc001seu.2_Intron	NM_018953	NP_061826	Q00444	HXC5_HUMAN	homeobox C5	158	Homeobox.				regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Silent	SNP	54428081	54428081	7606	12	C	A	A	22	22	HOXC5	A	2	2
NCKAP1L	3071	broad.mit.edu	37	12	54925091	54925091	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54925091C>A	uc001sgc.3	+	23	2633	c.2554C>A	c.(2554-2556)CTG>ATG	p.L852M	NCKAP1L_uc010sox.1_Missense_Mutation_p.L394M|NCKAP1L_uc010soy.1_Missense_Mutation_p.L802M	NM_005337	NP_005328	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	852					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	54925091	54925091	10621	12	C	A	A	24	24	NCKAP1L	A	2	2
ERBB3	2065	broad.mit.edu	37	12	56491643	56491643	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56491643C>A	uc001sjh.2	+	21	2728	c.2535C>A	c.(2533-2535)CCC>CCA	p.P845P	ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Silent_p.P202P|ERBB3_uc010sqc.1_Silent_p.P786P|ERBB3_uc009zok.2_Intron|ERBB3_uc001sjk.2_Silent_p.P86P	NM_001982	NP_001973	P21860	ERBB3_HUMAN	erbB-3 isoform 1 precursor	845	Cytoplasmic (Potential).|Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)															---	---	---	---	capture		Silent	SNP	56491643	56491643	5401	12	C	A	A	21	21	ERBB3	A	2	2
BAZ2A	11176	broad.mit.edu	37	12	57009191	57009191	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57009191G>T	uc001slq.1	-	3	537	c.343C>A	c.(343-345)CAG>AAG	p.Q115K	BAZ2A_uc001slp.1_Missense_Mutation_p.Q113K|BAZ2A_uc010sqr.1_Missense_Mutation_p.Q115K|BAZ2A_uc009zow.1_Missense_Mutation_p.Q113K	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	115					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	57009191	57009191	1352	12	G	T	T	47	47	BAZ2A	T	2	2
GRIP1	23426	broad.mit.edu	37	12	66786225	66786225	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66786225C>A	uc001stk.2	-	18	2412	c.2171G>T	c.(2170-2172)GGG>GTG	p.G724V	GRIP1_uc010sta.1_Missense_Mutation_p.G668V|GRIP1_uc001stj.2_Missense_Mutation_p.G506V|GRIP1_uc001stl.1_Missense_Mutation_p.G616V|GRIP1_uc001stm.2_Missense_Mutation_p.G724V	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	776					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			ovary(2)	2			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)														---	---	---	---	capture		Missense_Mutation	SNP	66786225	66786225	7066	12	C	A	A	22	22	GRIP1	A	2	2
TPH2	121278	broad.mit.edu	37	12	72425388	72425388	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72425388T>A	uc009zrw.1	+	11	1527	c.1386T>A	c.(1384-1386)AGT>AGA	p.S462R	TPH2_uc001swy.2_Missense_Mutation_p.S372R	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	462					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			ovary(2)|central_nervous_system(1)|skin(1)	4					L-Tryptophan(DB00150)													---	---	---	---	capture		Missense_Mutation	SNP	72425388	72425388	16946	12	T	A	A	57	57	TPH2	A	4	4
E2F7	144455	broad.mit.edu	37	12	77444408	77444408	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77444408G>T	uc001sym.3	-	4	722	c.486C>A	c.(484-486)CCC>CCA	p.P162P	E2F7_uc001syn.2_Silent_p.P162P	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	162	Potential.				cell cycle	transcription factor complex	DNA binding|identical protein binding			upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3																		---	---	---	---	capture		Silent	SNP	77444408	77444408	5058	12	G	T	T	35	35	E2F7	T	2	2
NT5DC3	51559	broad.mit.edu	37	12	104179133	104179133	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104179133C>A	uc010swe.1	-	12	1350	c.1309G>T	c.(1309-1311)GGC>TGC	p.G437C		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	437							hydrolase activity|metal ion binding			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	104179133	104179133	11097	12	C	A	A	21	21	NT5DC3	A	2	2
ALDH1L2	160428	broad.mit.edu	37	12	105420472	105420472	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105420472G>T	uc001tlc.2	-	22	2694	c.2567C>A	c.(2566-2568)GCC>GAC	p.A856D	ALDH1L2_uc009zuo.2_Missense_Mutation_p.A311D|ALDH1L2_uc009zup.2_RNA	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	856	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	105420472	105420472	498	12	G	T	T	42	42	ALDH1L2	T	2	2
NAA25	80018	broad.mit.edu	37	12	112481017	112481017	+	Splice_Site	SNP	T	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112481017T>A	uc001ttm.2	-	19	2271	c.2251_splice	c.e19-1	p.Y751_splice	NAA25_uc001ttn.3_Splice_Site|NAA25_uc009zvz.1_Splice_Site_p.Y723_splice|NAA25_uc009zwa.1_Splice_Site_p.Y751_splice	NM_024953	NP_079229			mitochondrial distribution and morphology 20							cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3																		---	---	---	---	capture		Splice_Site	SNP	112481017	112481017	10516	12	T	A	A	55	55	NAA25	A	5	4
C12orf51	283450	broad.mit.edu	37	12	112744001	112744001	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112744001G>T	uc009zwc.2	-	1	38	c.20C>A	c.(19-21)CCC>CAC	p.P7H		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	112744001	112744001	1740	12	G	T	T	43	43	C12orf51	T	2	2
VSIG10	54621	broad.mit.edu	37	12	118533522	118533522	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118533522G>T	uc001tws.2	-	2	511	c.177C>A	c.(175-177)AAC>AAA	p.N59K		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	59	Ig-like C2-type 1.|Extracellular (Potential).					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	118533522	118533522	17790	12	G	T	T	48	48	VSIG10	T	2	2
NBEA	26960	broad.mit.edu	37	13	35770415	35770415	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:35770415C>A	uc001uvb.2	+	31	5548	c.5342C>A	c.(5341-5343)CCT>CAT	p.P1781H	NBEA_uc010abi.2_Missense_Mutation_p.P437H	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	1781						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)														---	---	---	---	capture		Missense_Mutation	SNP	35770415	35770415	10583	13	C	A	A	24	24	NBEA	A	2	2
C13orf36	400120	broad.mit.edu	37	13	37269445	37269445	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37269445C>A	uc001uvt.3	+	2	676	c.230C>A	c.(229-231)CCA>CAA	p.P77Q		NM_203451	NP_982276	A2A2V5	CM036_HUMAN	hypothetical protein LOC400120	77						integral to membrane				skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	37269445	37269445	1777	13	C	A	A	21	21	C13orf36	A	2	2
EBPL	84650	broad.mit.edu	37	13	50235186	50235186	+	Missense_Mutation	SNP	G	T	T	rs61747169	byFrequency	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50235186G>T	uc001vdg.2	-	4	602	c.539C>A	c.(538-540)CCA>CAA	p.P180Q	EBPL_uc001vdh.2_RNA|EBPL_uc001vdi.2_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	emopamil binding related protein, delta8-delta7	180	Helical; (Potential).				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity				0		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)														---	---	---	---	capture		Missense_Mutation	SNP	50235186	50235186	5074	13	G	T	T	47	47	EBPL	T	2	2
ANKRD10	55608	broad.mit.edu	37	13	111563024	111563024	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111563024C>A	uc001vrn.2	-	2	439	c.304G>T	c.(304-306)GGG>TGG	p.G102W	ANKRD10_uc001vro.1_Missense_Mutation_p.G102W|ANKRD10_uc001vrp.1_Missense_Mutation_p.G102W	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	102	ANK 3.									central_nervous_system(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)															---	---	---	---	capture		Missense_Mutation	SNP	111563024	111563024	641	13	C	A	A	21	21	ANKRD10	A	2	2
CCNB1IP1	57820	broad.mit.edu	37	14	20781632	20781632	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20781632G>T	uc001vwv.2	-	6	1275	c.626C>A	c.(625-627)CCA>CAA	p.P209Q	CCNB1IP1_uc001vww.2_Missense_Mutation_p.P209Q|CCNB1IP1_uc001vwx.2_Missense_Mutation_p.P209Q|CCNB1IP1_uc001vwy.2_Missense_Mutation_p.P209Q|CCNB1IP1_uc001vwz.2_Missense_Mutation_p.P209Q	NM_182851	NP_878271	Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1 isoform 3	209						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)				T	HMGA2	leiomyoma								---	---	---	---	capture		Missense_Mutation	SNP	20781632	20781632	3039	14	G	T	T	47	47	CCNB1IP1	T	2	2
ACIN1	22985	broad.mit.edu	37	14	23564454	23564454	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23564454C>A	uc001wit.3	-	1	370	c.42G>T	c.(40-42)CGG>CGT	p.R14R	ACIN1_uc010akg.2_Silent_p.R14R|ACIN1_uc010tnj.1_Silent_p.R14R|C14orf119_uc001wiu.2_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	14					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			ovary(2)|large_intestine(1)|skin(1)	4	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)														---	---	---	---	capture		Silent	SNP	23564454	23564454	143	14	C	A	A	22	22	ACIN1	A	2	2
PSMC6	5706	broad.mit.edu	37	14	53185722	53185722	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53185722C>T	uc010tqx.1	+	10	785	c.785C>T	c.(784-786)TCA>TTA	p.S262L	PSMC6_uc001wzy.2_5'Flank	NM_002806	NP_002797	P62333	PRS10_HUMAN	proteasome 26S ATPase subunit 6	248					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			lung(1)	1	Breast(41;0.176)																	---	---	---	---	capture		Missense_Mutation	SNP	53185722	53185722	13144	14	C	T	T	29	29	PSMC6	T	2	2
PLEK2	26499	broad.mit.edu	37	14	67854081	67854081	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67854081C>T	uc001xjh.1	-	9	1079	c.1027G>A	c.(1027-1029)GCC>ACC	p.A343T		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	pleckstrin 2	343	PH 2.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				ovary(1)|pancreas(1)	2				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)														---	---	---	---	capture		Missense_Mutation	SNP	67854081	67854081	12480	14	C	T	T	28	28	PLEK2	T	2	2
ZFYVE26	23503	broad.mit.edu	37	14	68222749	68222749	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68222749C>A	uc001xka.2	-	36	6841	c.6702G>T	c.(6700-6702)TGG>TGT	p.W2234C	ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Missense_Mutation_p.W80C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2234					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			ovary(9)|breast(2)	11				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)														---	---	---	---	capture		Missense_Mutation	SNP	68222749	68222749	18258	14	C	A	A	22	22	ZFYVE26	A	2	2
RBM25	58517	broad.mit.edu	37	14	73577735	73577735	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:73577735G>T	uc001xno.2	+	15	2097	c.1889G>T	c.(1888-1890)AGT>ATT	p.S630I	RBM25_uc010ttu.1_Missense_Mutation_p.S630I|RBM25_uc001xnp.2_Missense_Mutation_p.S425I	NM_021239	NP_067062	P49756	RBM25_HUMAN	RNA binding motif protein 25	630	Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			central_nervous_system(2)|ovary(1)|breast(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)														---	---	---	---	capture		Missense_Mutation	SNP	73577735	73577735	13587	14	G	T	T	36	36	RBM25	T	2	2
YLPM1	56252	broad.mit.edu	37	14	75269258	75269258	+	Splice_Site	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75269258G>A	uc001xqj.3	+	6	4525	c.4401_splice	c.e6-1	p.R1467_splice	YLPM1_uc001xql.3_Splice_Site	NM_019589	NP_062535			YLP motif containing 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				ovary(2)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)														---	---	---	---	capture		Splice_Site	SNP	75269258	75269258	18069	14	G	A	A	35	35	YLPM1	A	5	2
KIAA1737	85457	broad.mit.edu	37	14	77579782	77579782	+	Silent	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77579782C>G	uc001xtd.2	+	4	500	c.321C>G	c.(319-321)TCC>TCG	p.S107S	KIAA1737_uc001xtc.1_Silent_p.S9S	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	KIAA1737 protein	107	Poly-Ser.										0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)														---	---	---	---	capture		Silent	SNP	77579782	77579782	8566	14	C	G	G	22	22	KIAA1737	G	3	3
NRXN3	9369	broad.mit.edu	37	14	79175957	79175957	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:79175957G>T	uc001xun.2	+	4	991	c.500G>T	c.(499-501)GGG>GTG	p.G167V	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.G301V	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	540	Extracellular (Potential).|Laminin G-like 3.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)														---	---	---	---	capture		Missense_Mutation	SNP	79175957	79175957	11072	14	G	T	T	43	43	NRXN3	T	2	2
DLK1	8788	broad.mit.edu	37	14	101200491	101200491	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101200491C>T	uc001yhs.3	+	5	563	c.410C>T	c.(409-411)CCC>CTC	p.P137L	DLK1_uc001yhu.3_Missense_Mutation_p.P137L	NM_003836	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog precursor	137	Extracellular (Potential).|EGF-like 4.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				ovary(2)|breast(1)|skin(1)	4		Melanoma(154;0.155)																---	---	---	---	capture		Missense_Mutation	SNP	101200491	101200491	4744	14	C	T	T	22	22	DLK1	T	2	2
RTL1	388015	broad.mit.edu	37	14	101348215	101348215	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:101348215C>T	uc010txj.1	-	1	2970	c.2911G>A	c.(2911-2913)GTC>ATC	p.V971I	MIR433_hsa-mir-433|MI0001723_5'Flank|uc001yig.3_5'Flank|MIR127_hsa-mir-127|MI0000472_5'Flank|MIR432_hsa-mir-432|MI0003133_5'Flank|uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	971										pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	101348215	101348215	14204	14	C	T	T	18	18	RTL1	T	2	2
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	T	T	rs34409589		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105246551C>T	uc001ypk.2	-	3	603	c.49G>A	c.(49-51)GAG>AAG	p.E17K	INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Missense_Mutation_p.E17K|AKT1_uc010axa.2_Missense_Mutation_p.E17K|AKT1_uc001ypm.2_Missense_Mutation_p.E17K|AKT1_uc001ypn.2_Missense_Mutation_p.E17K|AKT1_uc010tyk.1_5'Flank	NM_005163	NP_005154	P31749	AKT1_HUMAN	AKT1 kinase	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).	E->K: Increase in basal ubiquitination, phosphorylation at T-308 and important increase in membrane recruitment. Decrease in ubiquitination, phosphorylation at T-308 as well as impaired association with the membrane; when associated with R-8.	activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(126)		breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1)	134		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	E17K(KU1919_URINARY_TRACT)	1	Mis		breast|colorectal|ovarian|NSCLC								---	---	---	---	capture		Missense_Mutation	SNP	105246551	105246551	481	14	C	T	T	30	30	AKT1	T	2	2
OR4M2	390538	broad.mit.edu	37	15	22368589	22368589	+	Missense_Mutation	SNP	A	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22368589A>C	uc010tzu.1	+	1	14	c.14A>C	c.(13-15)AAT>ACT	p.N5T	LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)														---	---	---	---	capture		Missense_Mutation	SNP	22368589	22368589	11486	15	A	C	C	4	4	OR4M2	C	4	4
OR4N4	283694	broad.mit.edu	37	15	22382889	22382889	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22382889A>T	uc001yuc.1	+	7	1398	c.417A>T	c.(415-417)AGA>AGT	p.R139S	LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.R139S	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N,	139	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(4)|skin(1)	5		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)														---	---	---	---	capture		Missense_Mutation	SNP	22382889	22382889	11488	15	A	T	T	11	11	OR4N4	T	4	4
ATP10A	57194	broad.mit.edu	37	15	25939975	25939975	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25939975G>T	uc010ayu.2	-	14	3185	c.3079C>A	c.(3079-3081)CTG>ATG	p.L1027M		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1027	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	25939975	25939975	1135	15	G	T	T	35	35	ATP10A	T	2	2
GABRB3	2562	broad.mit.edu	37	15	26866631	26866631	+	Silent	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26866631G>C	uc001zaz.2	-	4	433	c.291C>G	c.(289-291)CTC>CTG	p.L97L	GABRB3_uc010uae.1_Silent_p.L12L|GABRB3_uc001zba.2_Silent_p.L97L|GABRB3_uc001zbb.2_Silent_p.L153L|GABRB3_uc001zbc.2_RNA	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	97	Extracellular (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---	capture		Silent	SNP	26866631	26866631	6419	15	G	C	C	37	37	GABRB3	C	3	3
OCA2	4948	broad.mit.edu	37	15	28235745	28235745	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28235745C>A	uc001zbh.3	-	10	1203	c.1093G>T	c.(1093-1095)GCA>TCA	p.A365S	OCA2_uc010ayv.2_Intron	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	365	Helical; (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	28235745	28235745	11220	15	C	A	A	26	26	OCA2	A	2	2
FMN1	342184	broad.mit.edu	37	15	33358919	33358919	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33358919C>A	uc001zhf.3	-	1	1167	c.1167G>T	c.(1165-1167)CAG>CAT	p.Q389H	FMN1_uc001zhg.2_Missense_Mutation_p.Q389H	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	formin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---	capture		Missense_Mutation	SNP	33358919	33358919	6191	15	C	A	A	24	24	FMN1	A	2	2
C15orf55	256646	broad.mit.edu	37	15	34648683	34648683	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34648683T>A	uc001zif.2	+	7	2545	c.2390T>A	c.(2389-2391)CTA>CAA	p.L797Q	C15orf55_uc010ucc.1_Missense_Mutation_p.L825Q|C15orf55_uc010ucd.1_Missense_Mutation_p.L815Q	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	nuclear protein in testis	797						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	midline_organs(25)|ovary(2)|lung(2)|skin(1)	30		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)				T	BRD3|BRD4	lethal midline carcinoma								---	---	---	---	capture		Missense_Mutation	SNP	34648683	34648683	1853	15	T	A	A	53	53	C15orf55	A	4	4
GPR176	11245	broad.mit.edu	37	15	40093648	40093648	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40093648C>A	uc001zkj.1	-	3	2099	c.1233G>T	c.(1231-1233)GAG>GAT	p.E411D	GPR176_uc010uck.1_Missense_Mutation_p.E351D	NM_007223	NP_009154	Q14439	GP176_HUMAN	G protein-coupled receptor 176	411	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)														---	---	---	---	capture		Missense_Mutation	SNP	40093648	40093648	6948	15	C	A	A	24	24	GPR176	A	2	2
PLA2G4D	283748	broad.mit.edu	37	15	42378498	42378498	+	Silent	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42378498C>T	uc001zox.2	-	4	395	c.300G>A	c.(298-300)GAG>GAA	p.E100E		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD	100	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			large_intestine(1)|skin(1)	2		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)														---	---	---	---	capture		Silent	SNP	42378498	42378498	12430	15	C	T	T	24	24	PLA2G4D	T	2	2
LCMT2	9836	broad.mit.edu	37	15	43622597	43622597	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43622597C>A	uc001zrg.2	-	1	295	c.91G>T	c.(91-93)GGG>TGG	p.G31W	LCMT2_uc010udn.1_5'UTR|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	31					tRNA processing		methyltransferase activity|protein binding				0		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)													---	---	---	---	capture		Missense_Mutation	SNP	43622597	43622597	9003	15	C	A	A	23	23	LCMT2	A	1	1
CLK3	1198	broad.mit.edu	37	15	74911566	74911566	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74911566C>A	uc010uln.1	+	2	934	c.473C>A	c.(472-474)CCT>CAT	p.P158H	CLK3_uc002ayg.3_Missense_Mutation_p.P10H|CLK3_uc002ayh.3_Translation_Start_Site|CLK3_uc010ulm.1_Missense_Mutation_p.P158H|CLK3_uc002ayj.3_Missense_Mutation_p.P10H|CLK3_uc002ayk.3_Translation_Start_Site	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	158						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	74911566	74911566	3676	15	C	A	A	24	24	CLK3	A	2	2
LINGO1	84894	broad.mit.edu	37	15	77906451	77906451	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77906451G>T	uc002bct.1	-	2	1850	c.1798C>A	c.(1798-1800)CGA>AGA	p.R600R	LINGO1_uc002bcu.1_Silent_p.R594R	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN	leucine-rich repeat neuronal 6A	600	Cytoplasmic (Potential).				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				ovary(1)|lung(1)	2																		---	---	---	---	capture		Silent	SNP	77906451	77906451	9141	15	G	T	T	39	39	LINGO1	T	1	1
ARNT2	9915	broad.mit.edu	37	15	80767480	80767480	+	Missense_Mutation	SNP	G	T	T	rs76083550		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:80767480G>T	uc002bfr.2	+	5	704	c.538G>T	c.(538-540)GGG>TGG	p.G180W	ARNT2_uc002bfq.2_Missense_Mutation_p.G180W|ARNT2_uc010unm.1_Missense_Mutation_p.G169W|ARNT2_uc002bfs.2_Missense_Mutation_p.G169W	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	180	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	80767480	80767480	984	15	G	T	T	47	47	ARNT2	T	2	2
SLC28A1	9154	broad.mit.edu	37	15	85438170	85438170	+	Splice_Site	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85438170G>T	uc002blg.2	+	6	480	c.278_splice	c.e6-1	p.G93_splice	SLC28A1_uc010upd.1_Splice_Site_p.G15_splice|SLC28A1_uc010bnb.2_Splice_Site_p.G93_splice|SLC28A1_uc010upe.1_Splice_Site_p.G93_splice|SLC28A1_uc010upf.1_Splice_Site_p.G93_splice|SLC28A1_uc010upg.1_Splice_Site_p.G93_splice|SLC28A1_uc002blf.2_Splice_Site_p.G93_splice	NM_004213	NP_004204			solute carrier family 28, member 1 isoform 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---	capture		Splice_Site	SNP	85438170	85438170	15028	15	G	T	T	35	35	SLC28A1	T	5	2
PIGQ	9091	broad.mit.edu	37	16	633200	633200	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:633200G>T	uc002cho.2	+	10	1951	c.1849G>T	c.(1849-1851)GGG>TGG	p.G617W	PIGQ_uc010bqw.2_3'UTR|PIGQ_uc002chn.2_3'UTR|PIGQ_uc010uui.1_3'UTR|PIGQ_uc002chp.2_Missense_Mutation_p.G187W|uc010uuj.1_Missense_Mutation_p.Q196K	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	617					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)	1		Hepatocellular(780;0.00335)																---	---	---	---	capture		Missense_Mutation	SNP	633200	633200	12320	16	G	T	T	47	47	PIGQ	T	2	2
PTX4	390667	broad.mit.edu	37	16	1536215	1536215	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1536215G>T	uc010uvf.1	-	3	1147	c.1147C>A	c.(1147-1149)CGC>AGC	p.R383S		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	388	Pentaxin.					extracellular region	metal ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	1536215	1536215	13281	16	G	T	T	39	39	PTX4	T	1	1
PAQR4	124222	broad.mit.edu	37	16	3021766	3021766	+	Silent	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3021766G>A	uc002csj.3	+	3	973	c.639G>A	c.(637-639)GCG>GCA	p.A213A	PAQR4_uc002csk.3_Silent_p.A174A|PAQR4_uc002csl.3_Silent_p.A139A|PAQR4_uc010uwm.1_Silent_p.A144A	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	213						integral to membrane	receptor activity				0																		---	---	---	---	capture		Silent	SNP	3021766	3021766	11854	16	G	A	A	38	38	PAQR4	A	1	1
NOMO1	23420	broad.mit.edu	37	16	14983069	14983069	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14983069C>A	uc002dcv.2	+	29	3507	c.3441C>A	c.(3439-3441)CCC>CCA	p.P1147P		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	1147	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	14983069	14983069	10934	16	C	A	A	21	21	NOMO1	A	2	2
GP2	2813	broad.mit.edu	37	16	20329643	20329643	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20329643C>A	uc002dgv.2	-	8	1209	c.1126G>T	c.(1126-1128)GTT>TTT	p.V376F	GP2_uc002dgw.2_Missense_Mutation_p.V373F|GP2_uc002dgx.2_Missense_Mutation_p.V229F|GP2_uc002dgy.2_Missense_Mutation_p.V226F	NM_001007240	NP_001007241	P55259	GP2_HUMAN	zymogen granule membrane glycoprotein 2 isoform	376	ZP.					anchored to membrane|extracellular region|plasma membrane				ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	20329643	20329643	6856	16	C	A	A	17	17	GP2	A	2	2
ACSM1	116285	broad.mit.edu	37	16	20682918	20682918	+	Silent	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20682918G>A	uc002dhm.1	-	4	755	c.687C>T	c.(685-687)ACC>ACT	p.T229T	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.T229T	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	229	ATP (By similarity).				benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	20682918	20682918	183	16	G	A	A	47	47	ACSM1	A	2	2
UBFD1	56061	broad.mit.edu	37	16	23569488	23569488	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23569488G>T	uc002dlv.2	+	2	445	c.243G>T	c.(241-243)GCG>GCT	p.A81A	EARS2_uc002dls.3_5'Flank|EARS2_uc002dlt.3_5'Flank|EARS2_uc002dlu.2_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	ubiquitin-binding protein homolog	81											0				GBM - Glioblastoma multiforme(48;0.0331)														---	---	---	---	capture		Silent	SNP	23569488	23569488	17442	16	G	T	T	39	39	UBFD1	T	1	1
TNRC6A	27327	broad.mit.edu	37	16	24817019	24817019	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24817019C>A	uc002dmm.2	+	15	4330	c.4216C>A	c.(4216-4218)CAG>AAG	p.Q1406K	TNRC6A_uc010bxs.2_Missense_Mutation_p.Q1153K|TNRC6A_uc002dmn.2_Missense_Mutation_p.Q1104K|TNRC6A_uc002dmo.2_Missense_Mutation_p.Q1045K|TNRC6A_uc002dmp.2_Missense_Mutation_p.Q7K|TNRC6A_uc002dmq.2_Missense_Mutation_p.Q73K	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1406					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	24817019	24817019	16881	16	C	A	A	21	21	TNRC6A	A	2	2
KIAA0556	23247	broad.mit.edu	37	16	27789275	27789275	+	Missense_Mutation	SNP	A	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27789275A>C	uc002dow.2	+	27	4810	c.4786A>C	c.(4786-4788)AGC>CGC	p.S1596R	KIAA0556_uc010vco.1_Missense_Mutation_p.S98R	NM_015202	NP_056017	O60303	K0556_HUMAN	hypothetical protein LOC23247	1596										ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	27789275	27789275	8490	16	A	C	C	11	11	KIAA0556	C	4	4
SRCAP	10847	broad.mit.edu	37	16	30749421	30749421	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30749421C>A	uc002dze.1	+	34	8445	c.8060C>A	c.(8059-8061)CCA>CAA	p.P2687Q	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.P2482Q	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2687	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	30749421	30749421	15649	16	C	A	A	21	21	SRCAP	A	2	2
MYLK3	91807	broad.mit.edu	37	16	46782053	46782053	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:46782053C>A	uc002eei.3	-	1	169	c.53G>T	c.(52-54)GGC>GTC	p.G18V	MYLK3_uc010vge.1_Intron	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	18					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)																---	---	---	---	capture		Missense_Mutation	SNP	46782053	46782053	10453	16	C	A	A	26	26	MYLK3	A	2	2
DPEP3	64180	broad.mit.edu	37	16	68010022	68010022	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68010022G>T	uc002evc.3	-	9	1373	c.1279C>A	c.(1279-1281)CTG>ATG	p.L427M	DPEP3_uc010cex.2_Missense_Mutation_p.L426M	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	dipeptidase 3 isoform a	402					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(3)	3		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)														---	---	---	---	capture		Missense_Mutation	SNP	68010022	68010022	4899	16	G	T	T	34	34	DPEP3	T	2	2
ADAT1	23536	broad.mit.edu	37	16	75634194	75634194	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75634194G>T	uc002feo.1	-	11	1531	c.1429C>A	c.(1429-1431)CAG>AAG	p.Q477K	ADAT1_uc002fep.1_Missense_Mutation_p.Q328K	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	477	A to I editase.				tRNA processing		metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	75634194	75634194	285	16	G	T	T	47	47	ADAT1	T	2	2
PLCG2	5336	broad.mit.edu	37	16	81960728	81960728	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81960728C>A	uc002fgt.2	+	23	2611	c.2459C>A	c.(2458-2460)CCA>CAA	p.P820Q		NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	820	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	81960728	81960728	12462	16	C	A	A	21	21	PLCG2	A	2	2
ZC3H18	124245	broad.mit.edu	37	16	88664585	88664585	+	Splice_Site	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88664585G>T	uc002fky.2	+	4	889	c.689_splice	c.e4-1	p.G230_splice	ZC3H18_uc010voy.1_Splice_Site_p.G113_splice|ZC3H18_uc010voz.1_Splice_Site_p.G254_splice	NM_144604	NP_653205			zinc finger CCCH-type containing 18							nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)														---	---	---	---	capture		Splice_Site	SNP	88664585	88664585	18156	16	G	T	T	35	35	ZC3H18	T	5	2
TUSC5	286753	broad.mit.edu	37	17	1183600	1183600	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1183600G>C	uc002fsi.1	+	1	644	c.305G>C	c.(304-306)AGA>ACA	p.R102T		NM_172367	NP_758955	Q8IXB3	TUSC5_HUMAN	LOST1	102					response to biotic stimulus	integral to membrane				skin(2)	2				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---	capture		Missense_Mutation	SNP	1183600	1183600	17335	17	G	C	C	33	33	TUSC5	C	3	3
SERPINF2	5345	broad.mit.edu	37	17	1657687	1657687	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1657687G>T	uc002ftk.1	+	10	1412	c.1335G>T	c.(1333-1335)AAG>AAT	p.K445N	SERPINF2_uc010vqr.1_Missense_Mutation_p.K381N	NM_000934	NP_000925	P08697	A2AP_HUMAN	alpha-2-antiplasmin isoform a precursor	445					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)													---	---	---	---	capture		Missense_Mutation	SNP	1657687	1657687	14603	17	G	T	T	35	35	SERPINF2	T	2	2
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578271T>C	uc002gim.2	-	6	772	c.578A>G	c.(577-579)CAT>CGT	p.H193R	TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.2_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.1_Missense_Mutation_p.H154R	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and 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.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture		Missense_Mutation	SNP	7578271	7578271	16923	17	T	C	C	51	51	TP53	C	4	4
MYH13	8735	broad.mit.edu	37	17	10216043	10216043	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10216043C>A	uc002gmk.1	-	31	4303	c.4213G>T	c.(4213-4215)GAG>TAG	p.E1405*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1405	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	10216043	10216043	10427	17	C	A	A	32	32	MYH13	A	5	2
MYH8	4626	broad.mit.edu	37	17	10307812	10307812	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10307812G>T	uc002gmm.2	-	22	2618	c.2523C>A	c.(2521-2523)CCC>CCA	p.P841P	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	841					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---	capture		Silent	SNP	10307812	10307812	10436	17	G	T	T	43	43	MYH8	T	2	2
MYH2	4620	broad.mit.edu	37	17	10443358	10443358	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10443358G>T	uc010coi.2	-	12	1162	c.1034C>A	c.(1033-1035)ACT>AAT	p.T345N	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T345N|MYH2_uc010coj.2_Missense_Mutation_p.T345N	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	345	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	10443358	10443358	10430	17	G	T	T	36	36	MYH2	T	2	2
TEKT3	64518	broad.mit.edu	37	17	15207316	15207316	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15207316C>G	uc002gon.2	-	9	1597	c.1410G>C	c.(1408-1410)CAG>CAC	p.Q470H		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	tektin 3	470					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(2)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)														---	---	---	---	capture		Missense_Mutation	SNP	15207316	15207316	16281	17	C	G	G	24	24	TEKT3	G	3	3
ATAD5	79915	broad.mit.edu	37	17	29162429	29162429	+	Nonsense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29162429A>T	uc002hfs.1	+	2	1676	c.1330A>T	c.(1330-1332)AAA>TAA	p.K444*	ATAD5_uc002hft.1_Nonsense_Mutation_p.K341*	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	444					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)																---	---	---	---	capture		Nonsense_Mutation	SNP	29162429	29162429	1095	17	A	T	T	13	13	ATAD5	T	5	4
AOC2	314	broad.mit.edu	37	17	41002241	41002241	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41002241C>A	uc002ibu.2	+	4	2182	c.2147C>A	c.(2146-2148)CCT>CAT	p.P716H	AOC2_uc002ibt.2_Missense_Mutation_p.P689H|AOC3_uc002ibv.2_5'Flank	NM_009590	NP_033720	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 isoform b	716					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			ovary(2)	2		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---	capture		Missense_Mutation	SNP	41002241	41002241	737	17	C	A	A	24	24	AOC2	A	2	2
FZD2	2535	broad.mit.edu	37	17	42636019	42636019	+	Silent	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42636019C>T	uc002igx.1	+	1	1095	c.963C>T	c.(961-963)GGC>GGT	p.G321G		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	321	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---	capture		Silent	SNP	42636019	42636019	6381	17	C	T	T	25	25	FZD2	T	2	2
HOXB2	3212	broad.mit.edu	37	17	46622226	46622226	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46622226C>A	uc002inm.2	-	1	168	c.48G>T	c.(46-48)CCG>CCT	p.P16P		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	16					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Silent	SNP	46622226	46622226	7593	17	C	A	A	19	19	HOXB2	A	1	1
CACNA1G	8913	broad.mit.edu	37	17	48650157	48650157	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48650157C>A	uc002irk.1	+	6	1361	c.989C>A	c.(988-990)CCC>CAC	p.P330H	CACNA1G_uc002iri.1_Missense_Mutation_p.P330H|CACNA1G_uc002irj.1_Missense_Mutation_p.P330H|CACNA1G_uc002irl.1_Missense_Mutation_p.P330H|CACNA1G_uc002irm.1_Missense_Mutation_p.P330H|CACNA1G_uc002irn.1_Missense_Mutation_p.P330H|CACNA1G_uc002iro.1_Missense_Mutation_p.P330H|CACNA1G_uc002irp.1_Missense_Mutation_p.P330H|CACNA1G_uc002irq.1_Missense_Mutation_p.P330H|CACNA1G_uc002irr.1_Missense_Mutation_p.P330H|CACNA1G_uc002irs.1_Missense_Mutation_p.P330H|CACNA1G_uc002irt.1_Missense_Mutation_p.P330H|CACNA1G_uc002irv.1_Missense_Mutation_p.P330H|CACNA1G_uc002irw.1_Missense_Mutation_p.P330H|CACNA1G_uc002iru.1_Missense_Mutation_p.P330H|CACNA1G_uc002irx.1_Missense_Mutation_p.P243H|CACNA1G_uc002iry.1_Missense_Mutation_p.P243H|CACNA1G_uc002irz.1_Missense_Mutation_p.P243H|CACNA1G_uc002isa.1_Missense_Mutation_p.P243H|CACNA1G_uc002isb.1_Missense_Mutation_p.P243H|CACNA1G_uc002isc.1_Missense_Mutation_p.P243H|CACNA1G_uc002isd.1_Missense_Mutation_p.P243H|CACNA1G_uc002ise.1_Missense_Mutation_p.P243H|CACNA1G_uc002isf.1_Missense_Mutation_p.P243H|CACNA1G_uc002isg.1_Missense_Mutation_p.P243H|CACNA1G_uc002ish.1_Missense_Mutation_p.P243H|CACNA1G_uc002isi.1_Missense_Mutation_p.P243H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	voltage-dependent calcium channel alpha 1G	330	Extracellular (Potential).|I.				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		Missense_Mutation	SNP	48650157	48650157	2660	17	C	A	A	22	22	CACNA1G	A	2	2
CA10	56934	broad.mit.edu	37	17	50008479	50008479	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:50008479C>A	uc002itw.3	-	3	1136	c.150G>T	c.(148-150)TGG>TGT	p.W50C	CA10_uc002itv.3_Missense_Mutation_p.W56C|CA10_uc002itx.3_Missense_Mutation_p.W50C|CA10_uc002ity.3_Missense_Mutation_p.W50C|CA10_uc002itz.2_Missense_Mutation_p.W50C	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	50					brain development					ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)															---	---	---	---	capture		Missense_Mutation	SNP	50008479	50008479	2627	17	C	A	A	22	22	CA10	A	2	2
BPTF	2186	broad.mit.edu	37	17	65871037	65871037	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65871037G>C	uc002jgf.2	+	4	1826	c.1765G>C	c.(1765-1767)GAT>CAT	p.D589H	BPTF_uc002jge.2_Missense_Mutation_p.D589H|BPTF_uc010wqm.1_Missense_Mutation_p.D589H	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	65871037	65871037	1523	17	G	C	C	33	33	BPTF	C	3	3
CD300LB	124599	broad.mit.edu	37	17	72521981	72521981	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72521981C>A	uc002jkx.2	-	2	400	c.387G>T	c.(385-387)GAG>GAT	p.E129D	CD300LB_uc010wqz.1_Missense_Mutation_p.E129D	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	92	Ig-like V-type.|Extracellular (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	72521981	72521981	3127	17	C	A	A	24	24	CD300LB	A	2	2
TNRC6C	57690	broad.mit.edu	37	17	76099517	76099517	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76099517C>T	uc002jud.2	+	20	5195	c.4595C>T	c.(4594-4596)ACA>ATA	p.T1532I	TNRC6C_uc002juf.2_Missense_Mutation_p.T1568I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C isoform 2	1532	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			ovary(1)|central_nervous_system(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)															---	---	---	---	capture		Missense_Mutation	SNP	76099517	76099517	16883	17	C	T	T	17	17	TNRC6C	T	2	2
EMILIN2	84034	broad.mit.edu	37	18	2885096	2885096	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2885096C>A	uc002kln.2	+	3	551	c.392C>A	c.(391-393)CCC>CAC	p.P131H		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2 precursor	131					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			skin(2)|ovary(1)	3				READ - Rectum adenocarcinoma(2;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	2885096	2885096	5286	18	C	A	A	22	22	EMILIN2	A	2	2
PPP4R1	9989	broad.mit.edu	37	18	9557344	9557344	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9557344C>A	uc002koe.1	-	15	2183	c.2065G>T	c.(2065-2067)GAG>TAG	p.E689*	PPP4R1_uc002kof.2_Nonsense_Mutation_p.E106*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.E535*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.E672*	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	689					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	9557344	9557344	12839	18	C	A	A	31	31	PPP4R1	A	5	1
CEP76	79959	broad.mit.edu	37	18	12678333	12678333	+	Silent	SNP	C	A	A	rs36092016		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12678333C>A	uc002kri.2	-	10	1554	c.1398G>T	c.(1396-1398)CTG>CTT	p.L466L	PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Silent_p.L288L|CEP76_uc010wzz.1_Silent_p.L391L	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	466					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding				0																		---	---	---	---	capture		Silent	SNP	12678333	12678333	3394	18	C	A	A	21	21	CEP76	A	2	2
ASXL3	80816	broad.mit.edu	37	18	31323945	31323945	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31323945G>T	uc010dmg.1	+	12	4188	c.4133G>T	c.(4132-4134)GGG>GTG	p.G1378V	ASXL3_uc002kxq.2_Missense_Mutation_p.G1085V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	31323945	31323945	1087	18	G	T	T	43	43	ASXL3	T	2	2
GALNT1	2589	broad.mit.edu	37	18	33283583	33283583	+	Silent	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33283583C>T	uc010dmu.2	+	11	1562	c.1509C>T	c.(1507-1509)AAC>AAT	p.N503N	GALNT1_uc002kyz.3_Silent_p.N443N|GALNT1_uc002kzb.2_Silent_p.N503N	NM_020474	NP_065207	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	503	Lumenal (Potential).|Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	33283583	33283583	6471	18	C	T	T	18	18	GALNT1	T	2	2
C18orf32	497661	broad.mit.edu	37	18	47010053	47010053	+	Silent	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47010053T>C	uc002ldk.1	-	2	278	c.66A>G	c.(64-66)CCA>CCG	p.P22P	C18orf32_uc002ldl.2_Silent_p.P22P|C18orf32_uc002ldm.1_Missense_Mutation_p.H199R	NM_001035005	NP_001030177	Q8TCD1	CR032_HUMAN	hypothetical protein LOC497661	22					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity				0																		---	---	---	---	capture		Silent	SNP	47010053	47010053	1962	18	T	C	C	51	51	C18orf32	C	4	4
SERPINB4	6318	broad.mit.edu	37	18	61328424	61328424	+	Silent	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61328424G>A	uc002ljg.2	-	1	53	c.27C>T	c.(25-27)ACC>ACT	p.T9T	SERPINB3_uc002lji.2_Silent_p.T9T|SERPINB3_uc010dqa.2_Silent_p.T9T|SERPINB3_uc010dqb.2_Silent_p.T9T|SERPINB3_uc010dqc.2_Silent_p.T9T			P48594	SPB4_HUMAN	SubName: Full=Squamous cell carcinoma antigen 2;	9					immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|lung(1)	3																		---	---	---	---	capture		Silent	SNP	61328424	61328424	14591	18	G	A	A	47	47	SERPINB4	A	2	2
MYO1F	4542	broad.mit.edu	37	19	8609217	8609217	+	Nonsense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8609217C>T	uc002mkg.2	-	14	1602	c.1488G>A	c.(1486-1488)TGG>TGA	p.W496*		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	496	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	8609217	8609217	10468	19	C	T	T	30	30	MYO1F	T	5	2
MUC16	94025	broad.mit.edu	37	19	9074998	9074998	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9074998G>T	uc002mkp.2	-	3	12652	c.12448C>A	c.(12448-12450)CCT>ACT	p.P4150T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4152	Thr-rich.|Extracellular (Potential).|Ser-rich.				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		Missense_Mutation	SNP	9074998	9074998	10367	19	G	T	T	43	43	MUC16	T	2	2
RGL3	57139	broad.mit.edu	37	19	11512922	11512922	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11512922C>A	uc002mrp.2	-	12	1395	c.1331G>T	c.(1330-1332)GGG>GTG	p.G444V	RGL3_uc002mrn.2_Missense_Mutation_p.G208V|RGL3_uc002mrm.2_Missense_Mutation_p.G208V|RGL3_uc002mro.2_Missense_Mutation_p.G444V	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	444	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	11512922	11512922	13751	19	C	A	A	22	22	RGL3	A	2	2
ZNF442	79973	broad.mit.edu	37	19	12460784	12460784	+	Missense_Mutation	SNP	T	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12460784T>G	uc002mtr.1	-	6	2226	c.1615A>C	c.(1615-1617)ACT>CCT	p.T539P	ZNF442_uc010xmk.1_Missense_Mutation_p.T470P	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|breast(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	12460784	12460784	18508	19	T	G	G	59	59	ZNF442	G	4	4
PDE4C	5143	broad.mit.edu	37	19	18321932	18321932	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18321932T>C	uc010xqc.1	-	15	2426	c.1946A>G	c.(1945-1947)GAG>GGG	p.E649G	PDE4C_uc002nik.3_Missense_Mutation_p.E649G|PDE4C_uc002nil.3_Missense_Mutation_p.E649G|PDE4C_uc002nif.3_Missense_Mutation_p.E418G|PDE4C_uc002nig.3_Missense_Mutation_p.E364G|PDE4C_uc002nih.3_Missense_Mutation_p.E419G|PDE4C_uc010ebk.2_Missense_Mutation_p.E543G|PDE4C_uc002nii.3_Missense_Mutation_p.E617G|PDE4C_uc010ebl.2_Missense_Mutation_p.E363G	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	phosphodiesterase 4C isoform PDE4C-2	649					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|skin(2)|central_nervous_system(1)	5					Dyphylline(DB00651)													---	---	---	---	capture		Missense_Mutation	SNP	18321932	18321932	12062	19	T	C	C	54	54	PDE4C	C	4	4
SFRS14	10147	broad.mit.edu	37	19	19135671	19135671	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19135671C>A	uc002nkx.2	-	3	1632	c.1486G>T	c.(1486-1488)GAG>TAG	p.E496*	SFRS14_uc002nkz.1_Nonsense_Mutation_p.E510*|SFRS14_uc002nla.1_Nonsense_Mutation_p.E496*|SFRS14_uc002nlb.2_Nonsense_Mutation_p.E496*|SFRS14_uc010xqk.1_Nonsense_Mutation_p.E265*	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	496					mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)															---	---	---	---	capture		Nonsense_Mutation	SNP	19135671	19135671	14660	19	C	A	A	30	30	SFRS14	A	5	2
ZNF100	163227	broad.mit.edu	37	19	21910036	21910036	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21910036G>T	uc002nqi.2	-	5	1277	c.1078C>A	c.(1078-1080)CTT>ATT	p.L360I	ZNF100_uc002nqh.2_Missense_Mutation_p.L296I	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	360	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	21910036	21910036	18304	19	G	T	T	35	35	ZNF100	T	2	2
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23544724T>C	uc002nre.2	-	4	1170	c.1057A>G	c.(1057-1059)AAA>GAA	p.K353E	ZNF91_uc010xrj.1_Missense_Mutation_p.K321E	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	353	C2H2-type 8.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---	capture		Missense_Mutation	SNP	23544724	23544724	18804	19	T	C	C	61	61	ZNF91	C	4	4
MAP4K1	11184	broad.mit.edu	37	19	39088220	39088220	+	Silent	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39088220G>A	uc002oix.1	-	23	1792	c.1684C>T	c.(1684-1686)CTG>TTG	p.L562L	MAP4K1_uc002oiw.1_Silent_p.L149L|MAP4K1_uc002oiy.1_Silent_p.L562L|MAP4K1_uc010xug.1_Silent_p.T203T	NM_007181	NP_009112	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase	562	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			skin(4)|lung(3)|ovary(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture		Silent	SNP	39088220	39088220	9642	19	G	A	A	35	35	MAP4K1	A	2	2
PRX	57716	broad.mit.edu	37	19	40903105	40903105	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40903105C>A	uc002onr.2	-	7	1423	c.1154G>T	c.(1153-1155)AGG>ATG	p.R385M	PRX_uc002onq.2_Missense_Mutation_p.R246M|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	385					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)															---	---	---	---	capture		Missense_Mutation	SNP	40903105	40903105	13093	19	C	A	A	24	24	PRX	A	2	2
GRIK5	2901	broad.mit.edu	37	19	42566697	42566697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42566697G>A	uc002osj.1	-	4	486	c.451C>T	c.(451-453)CGA>TGA	p.R151*	GRIK5_uc010eib.1_Nonsense_Mutation_p.R70*	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	151	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)													---	---	---	---	capture		Nonsense_Mutation	SNP	42566697	42566697	7056	19	G	A	A	39	39	GRIK5	A	5	1
PSG3	5671	broad.mit.edu	37	19	43243198	43243198	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43243198G>T	uc002oue.2	-	2	240	c.108C>A	c.(106-108)GTC>GTA	p.V36V	PSG3_uc002ouf.2_RNA|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Silent_p.V58V	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	36	Ig-like V-type.				defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)																---	---	---	---	capture		Silent	SNP	43243198	43243198	13109	19	G	T	T	45	45	PSG3	T	2	2
HIF3A	64344	broad.mit.edu	37	19	46842856	46842856	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46842856G>T	uc002peh.2	+	15	2016	c.1987G>T	c.(1987-1989)GCA>TCA	p.A663S	HIF3A_uc002pek.2_Missense_Mutation_p.A607S|HIF3A_uc010xxy.1_Missense_Mutation_p.A594S|HIF3A_uc002pel.2_Missense_Mutation_p.A661S	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)														---	---	---	---	capture		Missense_Mutation	SNP	46842856	46842856	7390	19	G	T	T	42	42	HIF3A	T	2	2
TPRX1	284355	broad.mit.edu	37	19	48305190	48305190	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48305190G>T	uc002php.1	-	2	1149	c.1078C>A	c.(1078-1080)CTA>ATA	p.L360I		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox	360						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)														---	---	---	---	capture		Missense_Mutation	SNP	48305190	48305190	16966	19	G	T	T	35	35	TPRX1	T	2	2
ELSPBP1	64100	broad.mit.edu	37	19	48525518	48525518	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48525518G>T	uc002pht.2	+	6	761	c.606G>T	c.(604-606)AAG>AAT	p.K202N		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1 precursor	202	Fibronectin type-II 4.				single fertilization	extracellular region					0		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	48525518	48525518	5275	19	G	T	T	35	35	ELSPBP1	T	2	2
PLEKHA4	57664	broad.mit.edu	37	19	49364681	49364681	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49364681G>T	uc002pkx.2	-	5	894	c.343C>A	c.(343-345)CGA>AGA	p.R115R	PLEKHA4_uc002pkw.1_5'Flank|PLEKHA4_uc010eml.2_Silent_p.R115R	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing family A	115	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)														---	---	---	---	capture		Silent	SNP	49364681	49364681	12484	19	G	T	T	39	39	PLEKHA4	T	1	1
SIGLEC7	27036	broad.mit.edu	37	19	51645698	51645698	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51645698G>T	uc002pvv.1	+	1	141	c.72G>T	c.(70-72)AAG>AAT	p.K24N	SIGLEC7_uc002pvw.1_Missense_Mutation_p.K24N|SIGLEC7_uc010eoq.1_RNA|SIGLEC7_uc010eor.1_Missense_Mutation_p.K24N	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7 isoform 1	24	Extracellular (Potential).				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			large_intestine(1)	1		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)														---	---	---	---	capture		Missense_Mutation	SNP	51645698	51645698	14808	19	G	T	T	35	35	SIGLEC7	T	2	2
SIGLEC12	89858	broad.mit.edu	37	19	52002737	52002737	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52002737C>A	uc002pwx.1	-	3	1098	c.1042G>T	c.(1042-1044)GGG>TGG	p.G348W	SIGLEC12_uc002pww.1_Missense_Mutation_p.G230W|SIGLEC12_uc010eoy.1_Missense_Mutation_p.G75W	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	sialic acid binding immunoglobulin-like	348	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding			ovary(3)|skin(2)	5		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---	capture		Missense_Mutation	SNP	52002737	52002737	14803	19	C	A	A	21	21	SIGLEC12	A	2	2
NLRP12	91662	broad.mit.edu	37	19	54327297	54327297	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54327297G>T	uc002qch.3	-	1	352	c.132C>A	c.(130-132)CCC>CCA	p.P44P	NLRP12_uc002qci.3_Silent_p.P44P|NLRP12_uc002qcj.3_Silent_p.P44P|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Silent_p.P44P	NM_144687	NP_653288	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12 isoform	44	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			ovary(4)|upper_aerodigestive_tract(2)|lung(1)	7	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)														---	---	---	---	capture		Silent	SNP	54327297	54327297	10877	19	G	T	T	35	35	NLRP12	T	2	2
LILRA2	11027	broad.mit.edu	37	19	55087509	55087509	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55087509C>A	uc002qgg.3	+	6	1277	c.1188C>A	c.(1186-1188)TAC>TAA	p.Y396*	LILRA2_uc010ern.2_Nonsense_Mutation_p.Y396*|LILRA2_uc002qgf.2_Nonsense_Mutation_p.Y396*|LILRA2_uc010yfe.1_Nonsense_Mutation_p.Y396*|LILRA2_uc010yff.1_Nonsense_Mutation_p.Y384*|LILRA2_uc010ero.2_Nonsense_Mutation_p.Y384*|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	396	Ig-like C2-type 4.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)														---	---	---	---	capture		Nonsense_Mutation	SNP	55087509	55087509	9111	19	C	A	A	17	17	LILRA2	A	5	2
NLRP7	199713	broad.mit.edu	37	19	55435122	55435122	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55435122C>A	uc002qih.3	-	10	3005	c.2929G>T	c.(2929-2931)GAC>TAC	p.D977Y	NLRP7_uc002qig.3_Missense_Mutation_p.D1006Y|NLRP7_uc002qii.3_Missense_Mutation_p.D1034Y|NLRP7_uc010esk.2_3'UTR|NLRP7_uc010esl.2_Missense_Mutation_p.D1062Y	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	977							ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(193;0.0325)														---	---	---	---	capture		Missense_Mutation	SNP	55435122	55435122	10885	19	C	A	A	29	29	NLRP7	A	2	2
NLRP4	147945	broad.mit.edu	37	19	56382329	56382329	+	Missense_Mutation	SNP	T	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56382329T>A	uc002qmd.3	+	7	2913	c.2491T>A	c.(2491-2493)TTG>ATG	p.L831M	NLRP4_uc002qmf.2_Missense_Mutation_p.L756M|NLRP4_uc010etf.2_Missense_Mutation_p.L606M	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	831	LRR 5.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	56382329	56382329	10882	19	T	A	A	56	56	NLRP4	A	4	4
NLRP13	126204	broad.mit.edu	37	19	56423244	56423244	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56423244C>A	uc010ygg.1	-	5	1964	c.1939G>T	c.(1939-1941)GAG>TAG	p.E647*		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	647							ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---	capture		Nonsense_Mutation	SNP	56423244	56423244	10878	19	C	A	A	30	30	NLRP13	A	5	2
NLRP5	126206	broad.mit.edu	37	19	56552435	56552435	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56552435C>A	uc002qmj.2	+	11	2934	c.2934C>A	c.(2932-2934)CCC>CCA	p.P978P	NLRP5_uc002qmi.2_Silent_p.P959P	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	978						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		Silent	SNP	56552435	56552435	10883	19	C	A	A	22	22	NLRP5	A	2	2
NLRP5	126206	broad.mit.edu	37	19	56569714	56569714	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56569714C>A	uc002qmj.2	+	14	3408	c.3408C>A	c.(3406-3408)CCC>CCA	p.P1136P	NLRP5_uc002qmi.2_Silent_p.P1117P	NM_153447	NP_703148	P59047	NALP5_HUMAN	NACHT, LRR and PYD containing protein 5	1136	LRR 13.					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		Silent	SNP	56569714	56569714	10883	19	C	A	A	21	21	NLRP5	A	2	2
ZNF274	10782	broad.mit.edu	37	19	58723027	58723027	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58723027G>C	uc002qrq.1	+	9	1413	c.954G>C	c.(952-954)GAG>GAC	p.E318D	ZNF274_uc002qrr.1_Missense_Mutation_p.E286D|ZNF274_uc002qrs.1_Missense_Mutation_p.E213D|ZNF274_uc010eum.1_Missense_Mutation_p.E77D	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	zinc finger protein 274 isoform c	318	KRAB 2.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)	1		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)														---	---	---	---	capture		Missense_Mutation	SNP	58723027	58723027	18401	19	G	C	C	33	33	ZNF274	C	3	3
SLC27A5	10998	broad.mit.edu	37	19	59010941	59010941	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:59010941C>A	uc002qtc.2	-	7	1695	c.1585G>T	c.(1585-1587)GTT>TTT	p.V529F	SLC27A5_uc002qtb.2_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid	529	Cytoplasmic (Probable).				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity				0		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)														---	---	---	---	capture		Missense_Mutation	SNP	59010941	59010941	15026	19	C	A	A	19	19	SLC27A5	A	1	1
PXDN	7837	broad.mit.edu	37	2	1652445	1652445	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1652445G>T	uc002qxa.2	-	17	3171	c.3107C>A	c.(3106-3108)CCG>CAG	p.P1036Q		NM_012293	NP_036425	Q92626	PXDN_HUMAN	peroxidasin precursor	1036					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			pancreas(6)|ovary(2)	8	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	1652445	1652445	13305	2	G	T	T	39	39	PXDN	T	1	1
OTOF	9381	broad.mit.edu	37	2	26699098	26699098	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26699098G>T	uc002rhk.2	-	23	2891	c.2764C>A	c.(2764-2766)CGC>AGC	p.R922S	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Missense_Mutation_p.R175S|OTOF_uc002rhi.2_Missense_Mutation_p.R232S|OTOF_uc002rhj.2_Missense_Mutation_p.R175S	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	922	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	26699098	26699098	11715	2	G	T	T	38	38	OTOF	T	1	1
BIRC6	57448	broad.mit.edu	37	2	32726824	32726824	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32726824G>T	uc010ezu.2	+	47	9210	c.9076G>T	c.(9076-9078)GGG>TGG	p.G3026W		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3026					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	32726824	32726824	1463	2	G	T	T	47	47	BIRC6	T	2	2
QPCT	25797	broad.mit.edu	37	2	37594508	37594508	+	Missense_Mutation	SNP	C	A	A	rs149540362		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37594508C>A	uc002rqg.2	+	4	802	c.680C>A	c.(679-681)CCG>CAG	p.P227Q	QPCT_uc002rqh.2_Missense_Mutation_p.P178Q	NM_012413	NP_036545	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase precursor	227					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)	1		Ovarian(717;0.051)|all_hematologic(82;0.21)																---	---	---	---	capture		Missense_Mutation	SNP	37594508	37594508	13332	2	C	A	A	23	23	QPCT	A	1	1
CDKL4	344387	broad.mit.edu	37	2	39417579	39417579	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39417579C>A	uc002rrm.2	-	5	519	c.519G>T	c.(517-519)GTG>GTT	p.V173V	CDKL4_uc010fal.1_Silent_p.V173V	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	173	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			ovary(1)	1		all_hematologic(82;0.248)																---	---	---	---	capture		Silent	SNP	39417579	39417579	3285	2	C	A	A	21	21	CDKL4	A	2	2
THADA	63892	broad.mit.edu	37	2	43732780	43732780	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43732780A>T	uc002rsw.3	-	24	3954	c.3602T>A	c.(3601-3603)ATA>AAA	p.I1201K	THADA_uc010far.2_Missense_Mutation_p.I470K|THADA_uc002rsx.3_Missense_Mutation_p.I1201K|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.I910K|THADA_uc010fat.1_Missense_Mutation_p.I348K|THADA_uc002rta.2_Missense_Mutation_p.I911K	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1201							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---	capture		Missense_Mutation	SNP	43732780	43732780	16368	2	A	T	T	16	16	THADA	T	4	4
CTNNA2	1496	broad.mit.edu	37	2	80620402	80620402	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80620402G>T	uc010ysh.1	+	7	1128	c.1123G>T	c.(1123-1125)GAT>TAT	p.D375Y	CTNNA2_uc010yse.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysg.1_Missense_Mutation_p.D375Y|CTNNA2_uc010ysi.1_Missense_Mutation_p.D7Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	375					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	80620402	80620402	4172	2	G	T	T	33	33	CTNNA2	T	2	2
ST3GAL5	8869	broad.mit.edu	37	2	86075199	86075199	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86075199G>T	uc002sqq.1	-	4	576	c.447C>A	c.(445-447)CCC>CCA	p.P149P	ST3GAL5_uc010fgq.1_Silent_p.P21P|ST3GAL5_uc002sqp.1_Silent_p.P126P	NM_003896	NP_003887	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	149	Lumenal (Potential).				ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity				0																		---	---	---	---	capture		Silent	SNP	86075199	86075199	15736	2	G	T	T	47	47	ST3GAL5	T	2	2
SNRNP200	23020	broad.mit.edu	37	2	96968904	96968904	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96968904C>A	uc002svu.2	-	3	460	c.374G>T	c.(373-375)GGG>GTG	p.G125V		NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	125						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	96968904	96968904	15352	2	C	A	A	22	22	SNRNP200	A	2	2
TBC1D8	11138	broad.mit.edu	37	2	101638916	101638916	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101638916C>A	uc010fiv.2	-	16	2674	c.2543G>T	c.(2542-2544)CGG>CTG	p.R848L	TBC1D8_uc002tau.3_Missense_Mutation_p.R605L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	848					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	101638916	101638916	16151	2	C	A	A	23	23	TBC1D8	A	1	1
MFSD9	84804	broad.mit.edu	37	2	103343376	103343376	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103343376T>C	uc002tcb.2	-	4	423	c.355A>G	c.(355-357)AGT>GGT	p.S119G	MFSD9_uc010fja.2_RNA	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing	119	Helical; (Potential).				transmembrane transport	integral to membrane|plasma membrane	transporter activity			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	103343376	103343376	9929	2	T	C	C	55	55	MFSD9	C	4	4
ST6GAL2	84620	broad.mit.edu	37	2	107459731	107459731	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:107459731C>A	uc002tdq.2	-	2	822	c.703G>T	c.(703-705)GGG>TGG	p.G235W	ST6GAL2_uc002tdr.2_Missense_Mutation_p.G235W|ST6GAL2_uc002tds.3_Missense_Mutation_p.G235W	NM_001142351	NP_001135823	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide	235	Lumenal (Potential).				growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			pancreas(6)|ovary(4)|skin(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	107459731	107459731	15740	2	C	A	A	23	23	ST6GAL2	A	1	1
POTEE	445582	broad.mit.edu	37	2	131976073	131976073	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131976073C>A	uc002tsn.2	+	1	150	c.98C>A	c.(97-99)CCC>CAC	p.P33H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	33							ATP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	131976073	131976073	12694	2	C	A	A	22	22	POTEE	A	2	2
R3HDM1	23518	broad.mit.edu	37	2	136432940	136432940	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136432940G>T	uc002tuo.2	+	19	2456	c.2086G>T	c.(2086-2088)GGA>TGA	p.G696*	R3HDM1_uc010fni.2_Nonsense_Mutation_p.G695*|R3HDM1_uc002tup.2_Nonsense_Mutation_p.G641*|R3HDM1_uc010zbh.1_Nonsense_Mutation_p.G444*	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	696							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)														---	---	---	---	capture		Nonsense_Mutation	SNP	136432940	136432940	13346	2	G	T	T	35	35	R3HDM1	T	5	2
UBXN4	23190	broad.mit.edu	37	2	136537802	136537802	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136537802G>T	uc002tur.2	+	12	1546	c.1235G>T	c.(1234-1236)TGG>TTG	p.W412L	UBXN4_uc002tus.2_Missense_Mutation_p.W178L|UBXN4_uc002tut.2_Missense_Mutation_p.W48L	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	UBX domain containing 2	412	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	136537802	136537802	17474	2	G	T	T	47	47	UBXN4	T	2	2
TBR1	10716	broad.mit.edu	37	2	162273384	162273384	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:162273384G>T	uc002ubw.1	+	1	765	c.463G>T	c.(463-465)GGA>TGA	p.G155*	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	T-box, brain, 1	155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	162273384	162273384	16173	2	G	T	T	39	39	TBR1	T	5	1
IFIH1	64135	broad.mit.edu	37	2	163174569	163174569	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163174569G>T	uc002uce.2	-	1	471	c.249C>A	c.(247-249)CTC>CTA	p.L83L	IFIH1_uc002ucf.2_Silent_p.L83L	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	83	CARD 1.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	163174569	163174569	7821	2	G	T	T	41	41	IFIH1	T	2	2
TTC21B	79809	broad.mit.edu	37	2	166740505	166740505	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166740505C>A	uc002udk.2	-	26	3616	c.3483G>T	c.(3481-3483)TTG>TTT	p.L1161F	TTC21B_uc002udj.1_RNA	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1161						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	166740505	166740505	17242	2	C	A	A	21	21	TTC21B	A	2	2
LRP2	4036	broad.mit.edu	37	2	170010986	170010986	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170010986G>T	uc002ues.2	-	66	12492	c.12279C>A	c.(12277-12279)CCC>CCA	p.P4093P		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	4093	Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---	capture		Silent	SNP	170010986	170010986	9329	2	G	T	T	47	47	LRP2	T	2	2
GAD1	2571	broad.mit.edu	37	2	171704185	171704185	+	Splice_Site	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171704185G>T	uc002ugi.2	+	11	1425	c.1003_splice	c.e11-1	p.G335_splice		NM_000817	NP_000808			glutamate decarboxylase 1 isoform GAD67						glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			ovary(1)	1					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Splice_Site	SNP	171704185	171704185	6430	2	G	T	T	35	35	GAD1	T	5	2
TTN	7273	broad.mit.edu	37	2	179489260	179489260	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179489260G>T	uc010zfg.1	-	191	37267	c.37043C>A	c.(37042-37044)CCA>CAA	p.P12348Q	TTN_uc010zfh.1_Missense_Mutation_p.P6043Q|TTN_uc010zfi.1_Missense_Mutation_p.P5976Q|TTN_uc010zfj.1_Missense_Mutation_p.P5851Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13275							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	179489260	179489260	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179583529	179583529	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179583529G>T	uc010zfg.1	-	81	20890	c.20666C>A	c.(20665-20667)ACA>AAA	p.T6889K	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T3550K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7816							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	179583529	179583529	17290	2	G	T	T	48	48	TTN	T	2	2
CASP8	841	broad.mit.edu	37	2	202137405	202137405	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202137405G>T	uc002uxr.1	+	5	665	c.456G>T	c.(454-456)CTG>CTT	p.L152L	CASP8_uc010ftc.1_Silent_p.L152L|CASP8_uc002uxo.1_Silent_p.L152L|CASP8_uc002uxp.1_Silent_p.L184L|CASP8_uc002uxq.1_Silent_p.L152L|CASP8_uc002uxs.1_Silent_p.L152L|CASP8_uc002uxt.1_Silent_p.L211L|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Silent_p.L49L|CASP8_uc002uxv.1_Silent_p.L152L|CASP8_uc002uxw.1_Silent_p.L152L|CASP8_uc002uxy.1_Silent_p.L152L|CASP8_uc002uxx.1_Silent_p.L152L|CASP8_uc010ftf.2_Silent_p.L152L|CASP8_uc010fte.1_Silent_p.L49L	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	152	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5															HNSCC(4;0.00038)			---	---	---	---	capture		Silent	SNP	202137405	202137405	2796	2	G	T	T	47	47	CASP8	T	2	2
TRAK2	66008	broad.mit.edu	37	2	202245669	202245669	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202245669G>T	uc002uyb.3	-	16	2788	c.2342C>A	c.(2341-2343)CCA>CAA	p.P781Q		NM_015049	NP_055864	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	781				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	202245669	202245669	16994	2	G	T	T	47	47	TRAK2	T	2	2
ALS2	57679	broad.mit.edu	37	2	202590178	202590178	+	Splice_Site	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202590178C>A	uc002uyo.2	-	20	3605	c.3249_splice	c.e20-1	p.G1083_splice	ALS2_uc002uyp.3_Splice_Site_p.G1083_splice|ALS2_uc010ftl.2_Splice_Site	NM_020919	NP_065970			alsin isoform 1						cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---	capture		Splice_Site	SNP	202590178	202590178	553	2	C	A	A	24	24	ALS2	A	5	2
DYTN	391475	broad.mit.edu	37	2	207527889	207527889	+	Silent	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207527889C>T	uc002vbr.1	-	11	1488	c.1371G>A	c.(1369-1371)GAG>GAA	p.E457E		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	dystrotelin	457						plasma membrane	zinc ion binding			ovary(1)|central_nervous_system(1)	2				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)														---	---	---	---	capture		Silent	SNP	207527889	207527889	5047	2	C	T	T	32	32	DYTN	T	2	2
C2orf67	151050	broad.mit.edu	37	2	211018789	211018789	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211018789C>A	uc002vds.2	-	2	726	c.518G>T	c.(517-519)TGG>TTG	p.W173L	C2orf67_uc002vdt.2_Missense_Mutation_p.W173L|C2orf67_uc002vdw.2_Missense_Mutation_p.W173L|C2orf67_uc002vdy.1_Missense_Mutation_p.W173L|C2orf67_uc002vdv.2_Missense_Mutation_p.W173L|C2orf67_uc002vdx.1_Missense_Mutation_p.W173L	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	173										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---	capture		Missense_Mutation	SNP	211018789	211018789	2274	2	C	A	A	21	21	C2orf67	A	2	2
UGT1A7	54577	broad.mit.edu	37	2	234591092	234591092	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234591092G>T	uc002vut.2	+	1	509	c.509G>T	c.(508-510)AGG>ATG	p.R170M	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_Missense_Mutation_p.R170M	NM_019077	NP_061950	Q9HAW7	UD17_HUMAN	UDP glycosyltransferase 1 family, polypeptide A7	170					drug metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	drug binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|retinoic acid binding			ovary(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)														---	---	---	---	capture		Missense_Mutation	SNP	234591092	234591092	17508	2	G	T	T	35	35	UGT1A7	T	2	2
UGT1A1	54658	broad.mit.edu	37	2	234669706	234669706	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234669706G>C	uc002vvb.2	+	1	788	c.773G>C	c.(772-774)AGT>ACT	p.S258T	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_Intron|UGT1A3_uc002vuy.2_Intron|UGT1A9_uc002vva.2_Intron|UGT1A1_uc010znc.1_Missense_Mutation_p.S258T	NM_000463	NP_000454	P22309	UD11_HUMAN	UDP glycosyltransferase 1 family, polypeptide A1	258					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			central_nervous_system(1)|skin(1)	2		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)													---	---	---	---	capture		Missense_Mutation	SNP	234669706	234669706	17502	2	G	C	C	36	36	UGT1A1	C	3	3
COL6A3	1293	broad.mit.edu	37	2	238257297	238257297	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238257297C>A	uc002vwl.2	-	29	7174	c.6889G>T	c.(6889-6891)GGG>TGG	p.G2297W	COL6A3_uc002vwo.2_Missense_Mutation_p.G2091W|COL6A3_uc010znj.1_Missense_Mutation_p.G1690W|COL6A3_uc002vwp.1_Missense_Mutation_p.G118W	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	2297	Triple-helical region.|Collagen-like 4.				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		Missense_Mutation	SNP	238257297	238257297	3839	2	C	A	A	23	23	COL6A3	A	1	1
MLPH	79083	broad.mit.edu	37	2	238419719	238419719	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238419719C>A	uc002vwt.2	+	4	647	c.420C>A	c.(418-420)TCC>TCA	p.S140S	MLPH_uc002vws.2_Silent_p.S140S|MLPH_uc010fyt.1_Silent_p.S140S|MLPH_uc002vwu.2_Silent_p.S140S|MLPH_uc002vwv.2_Silent_p.S140S|MLPH_uc002vww.2_Silent_p.S116S	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	melanophilin isoform 1	140							metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)														---	---	---	---	capture		Silent	SNP	238419719	238419719	10023	2	C	A	A	22	22	MLPH	A	2	2
SLC4A11	83959	broad.mit.edu	37	20	3211999	3211999	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3211999G>T	uc002wig.2	-	7	1021	c.973C>A	c.(973-975)CTC>ATC	p.L325I	SLC4A11_uc010zqe.1_Missense_Mutation_p.L352I|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.L309I	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN	solute carrier family 4 member 11	325	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		Missense_Mutation	SNP	3211999	3211999	15149	20	G	T	T	35	35	SLC4A11	T	2	2
RRBP1	6238	broad.mit.edu	37	20	17597430	17597430	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17597430C>A	uc002wpv.1	-	22	2869	c.2515G>T	c.(2515-2517)GGG>TGG	p.G839W	RRBP1_uc010zrp.1_Missense_Mutation_p.G12W|RRBP1_uc002wpt.1_Missense_Mutation_p.G209W|RRBP1_uc002wpu.2_Missense_Mutation_p.G613W|RRBP1_uc002wpw.1_Missense_Mutation_p.G839W|RRBP1_uc010gcl.1_Missense_Mutation_p.G613W	NM_001042576	NP_001036041	Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1272	Cytoplasmic (Potential).				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17597430	17597430	14158	20	C	A	A	21	21	RRBP1	A	2	2
SEC23B	10483	broad.mit.edu	37	20	18516382	18516382	+	Missense_Mutation	SNP	A	G	G	rs150210442		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18516382A>G	uc002wqz.1	+	12	1843	c.1400A>G	c.(1399-1401)AAT>AGT	p.N467S	SEC23B_uc002wra.1_Missense_Mutation_p.N467S|SEC23B_uc002wrb.1_Missense_Mutation_p.N467S|SEC23B_uc010zsb.1_Missense_Mutation_p.N449S|SEC23B_uc002wrc.1_Missense_Mutation_p.N467S	NM_006363	NP_006354	Q15437	SC23B_HUMAN	Sec23 homolog B	467					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	18516382	18516382	14478	20	A	G	G	4	4	SEC23B	G	4	4
CST8	10047	broad.mit.edu	37	20	23472308	23472308	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23472308C>G	uc002wth.1	+	2	361	c.4C>G	c.(4-6)CCC>GCC	p.P2A		NM_005492	NP_005483	O60676	CST8_HUMAN	cystatin 8 precursor	2						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0431)|Lung NSC(19;0.235)																	---	---	---	---	capture		Missense_Mutation	SNP	23472308	23472308	4119	20	C	G	G	26	26	CST8	G	3	3
ENTPD6	955	broad.mit.edu	37	20	25187731	25187731	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25187731G>T	uc002wuj.2	+	3	254	c.74G>T	c.(73-75)TGG>TTG	p.W25L	ENTPD6_uc010zsy.1_Missense_Mutation_p.W25L|ENTPD6_uc010gdj.1_5'UTR|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Missense_Mutation_p.W8L|ENTPD6_uc010zta.1_Missense_Mutation_p.W25L|ENTPD6_uc002wun.2_Missense_Mutation_p.W25L|ENTPD6_uc002wuk.2_Missense_Mutation_p.W24L|ENTPD6_uc002wul.2_Missense_Mutation_p.W24L|ENTPD6_uc010ztb.1_5'UTR|ENTPD6_uc010ztc.1_5'UTR|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6	25	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	nucleoside-diphosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	25187731	25187731	5336	20	G	T	T	47	47	ENTPD6	T	2	2
ACSS2	55902	broad.mit.edu	37	20	33514968	33514968	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33514968C>A	uc002xbd.2	+	18	2178	c.2057C>A	c.(2056-2058)CCA>CAA	p.P686Q	ACSS2_uc002xbc.2_Missense_Mutation_p.P591Q|ACSS2_uc010gey.2_Missense_Mutation_p.P699Q|ACSS2_uc002xbe.2_Missense_Mutation_p.P394Q|ACSS2_uc002xbf.2_3'UTR	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	686					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	33514968	33514968	190	20	C	A	A	21	21	ACSS2	A	2	2
SNAI1	6615	broad.mit.edu	37	20	48600466	48600466	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48600466C>G	uc002xuz.2	+	2	258	c.188C>G	c.(187-189)TCT>TGT	p.S63C		NM_005985	NP_005976	O95863	SNAI1_HUMAN	snail 1 homolog	63					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)															---	---	---	---	capture		Missense_Mutation	SNP	48600466	48600466	15326	20	C	G	G	32	32	SNAI1	G	3	3
DIDO1	11083	broad.mit.edu	37	20	61541126	61541126	+	Missense_Mutation	SNP	T	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61541126T>G	uc002ydr.1	-	4	1350	c.1086A>C	c.(1084-1086)GAA>GAC	p.E362D	DIDO1_uc002yds.1_Missense_Mutation_p.E362D|DIDO1_uc002ydt.1_Missense_Mutation_p.E362D|DIDO1_uc002ydu.1_Missense_Mutation_p.E362D|DIDO1_uc002ydv.1_Missense_Mutation_p.E362D|DIDO1_uc002ydw.1_Missense_Mutation_p.E362D|DIDO1_uc002ydx.1_Missense_Mutation_p.E362D|DIDO1_uc011aao.1_Missense_Mutation_p.E362D	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1 isoform c	362					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(3)|skin(3)	6	Breast(26;5.68e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	61541126	61541126	4701	20	T	G	G	56	56	DIDO1	G	4	4
RNF160	26046	broad.mit.edu	37	21	30304866	30304866	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30304866C>A	uc002ymr.2	-	28	5147	c.5134G>T	c.(5134-5136)GGG>TGG	p.G1712W		NM_015565	NP_056380	O94822	LTN1_HUMAN	zinc finger protein 294	1666							ligase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	30304866	30304866	13932	21	C	A	A	21	21	RNF160	A	2	2
TIAM1	7074	broad.mit.edu	37	21	32624392	32624392	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32624392G>T	uc002yow.1	-	6	1549	c.1077C>A	c.(1075-1077)CCC>CCA	p.P359P	TIAM1_uc011adk.1_Silent_p.P359P|TIAM1_uc011adl.1_Silent_p.P359P|TIAM1_uc002yox.1_5'UTR	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	359					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10																		---	---	---	---	capture		Silent	SNP	32624392	32624392	16418	21	G	T	T	47	47	TIAM1	T	2	2
SLC37A1	54020	broad.mit.edu	37	21	43959738	43959738	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43959738G>T	uc002zbi.2	+	7	879	c.467G>T	c.(466-468)GGA>GTA	p.G156V	SLC37A1_uc002zbj.2_Missense_Mutation_p.G156V	NM_018964	NP_061837	P57057	GLPT_HUMAN	solute carrier family 37 member 1	156					carbohydrate transport|transmembrane transport	integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	43959738	43959738	15094	21	G	T	T	41	41	SLC37A1	T	2	2
KRTAP10-7	386675	broad.mit.edu	37	21	46021203	46021203	+	Missense_Mutation	SNP	C	T	T	rs672479		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46021203C>T	uc002zfn.3	+	2	692	c.667C>T	c.(667-669)CCT>TCT	p.P223S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	keratin associated protein 10-7	228	30 X 5 AA repeats of C-C-X(3).					keratin filament					0																		---	---	---	---	capture		Missense_Mutation	SNP	46021203	46021203	8829	21	C	T	T	22	22	KRTAP10-7	T	2	2
MYO18B	84700	broad.mit.edu	37	22	26423089	26423089	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26423089G>T	uc003abz.1	+	43	7399	c.7149G>T	c.(7147-7149)CGG>CGT	p.R2383R	MYO18B_uc003aca.1_Silent_p.R2264R|MYO18B_uc010guy.1_Silent_p.R2265R|MYO18B_uc010guz.1_Silent_p.R2263R|MYO18B_uc011aka.1_Silent_p.R1537R|MYO18B_uc011akb.1_Silent_p.R1896R|MYO18B_uc010gva.1_Silent_p.R366R|MYO18B_uc010gvb.1_RNA	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2383						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---	capture		Silent	SNP	26423089	26423089	10461	22	G	T	T	41	41	MYO18B	T	2	2
SEC14L2	23541	broad.mit.edu	37	22	30818328	30818328	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30818328G>T	uc003ahr.2	+	12	1317	c.1144G>T	c.(1144-1146)GAG>TAG	p.E382*	SEC14L2_uc011akx.1_Nonsense_Mutation_p.E328*|SEC14L2_uc003ahs.2_Nonsense_Mutation_p.E308*|SEC14L2_uc011aky.1_Nonsense_Mutation_p.E299*|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Intron|MTP18_uc003ahv.1_Intron|MTP18_uc010gvy.1_Intron	NM_012429	NP_036561	O76054	S14L2_HUMAN	SEC14-like 2 isoform 1	382	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding				0					Vitamin E(DB00163)													---	---	---	---	capture		Nonsense_Mutation	SNP	30818328	30818328	14468	22	G	T	T	41	41	SEC14L2	T	5	2
MYH9	4627	broad.mit.edu	37	22	36708218	36708218	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:36708218G>T	uc003apg.2	-	14	1835	c.1604C>A	c.(1603-1605)CCC>CAC	p.P535H	MYH9_uc003aph.1_Missense_Mutation_p.P399H	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	535	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11								T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated				---	---	---	---	capture		Missense_Mutation	SNP	36708218	36708218	10437	22	G	T	T	43	43	MYH9	T	2	2
CNTN4	152330	broad.mit.edu	37	3	2787299	2787299	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:2787299C>A	uc003bpc.2	+	5	497	c.276C>A	c.(274-276)ACC>ACA	p.T92T	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Silent_p.T92T	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	92	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.K92N(1)		large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---	capture		Silent	SNP	2787299	2787299	3781	3	C	A	A	22	22	CNTN4	A	2	2
VILL	50853	broad.mit.edu	37	3	38047298	38047298	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38047298G>T	uc003chj.2	+	17	2252	c.1966G>T	c.(1966-1968)GGG>TGG	p.G656W	VILL_uc003chl.2_Missense_Mutation_p.G656W	NM_015873	NP_056957	O15195	VILL_HUMAN	villin-like protein	656	Gelsolin-like 6.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton				0				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)														---	---	---	---	capture		Missense_Mutation	SNP	38047298	38047298	17732	3	G	T	T	47	47	VILL	T	2	2
IMPG2	50939	broad.mit.edu	37	3	100964871	100964871	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100964871C>G	uc003duq.1	-	12	1521	c.1318G>C	c.(1318-1320)GGT>CGT	p.G440R	IMPG2_uc011bhe.1_Missense_Mutation_p.G303R	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	440	Extracellular (Potential).				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	100964871	100964871	8030	3	C	G	G	21	21	IMPG2	G	3	3
NFKBIZ	64332	broad.mit.edu	37	3	101572312	101572312	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101572312C>A	uc003dvp.2	+	5	1057	c.942C>A	c.(940-942)CCC>CCA	p.P314P	NFKBIZ_uc003dvo.2_Silent_p.P214P|NFKBIZ_uc010hpo.2_Silent_p.P214P|NFKBIZ_uc003dvq.2_Intron	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(2)	2																		---	---	---	---	capture		Silent	SNP	101572312	101572312	10783	3	C	A	A	21	21	NFKBIZ	A	2	2
DZIP3	9666	broad.mit.edu	37	3	108394691	108394691	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108394691G>A	uc003dxd.2	+	25	3174	c.2752G>A	c.(2752-2754)GAT>AAT	p.D918N	DZIP3_uc003dxf.1_Missense_Mutation_p.D918N|DZIP3_uc011bhm.1_Missense_Mutation_p.D369N	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	918	Potential.				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	108394691	108394691	5051	3	G	A	A	33	33	DZIP3	A	2	2
TRAT1	50852	broad.mit.edu	37	3	108572518	108572518	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108572518G>T	uc003dxi.1	+	6	499	c.355G>T	c.(355-357)GGG>TGG	p.G119W	TRAT1_uc010hpx.1_Missense_Mutation_p.G82W	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	T-cell receptor interacting molecule	119	Cytoplasmic (Potential).				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	108572518	108572518	17010	3	G	T	T	43	43	TRAT1	T	2	2
DPPA4	55211	broad.mit.edu	37	3	109049388	109049388	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109049388G>A	uc003dxq.3	-	5	717	c.662C>T	c.(661-663)TCT>TTT	p.S221F	DPPA4_uc011bho.1_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.S221F	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	221						nucleus	protein binding			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	109049388	109049388	4920	3	G	A	A	33	33	DPPA4	A	2	2
EPHB1	2047	broad.mit.edu	37	3	134851685	134851685	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134851685G>A	uc003eqt.2	+	5	1311	c.1091G>A	c.(1090-1092)CGG>CAG	p.R364Q	EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_3'UTR|EPHB1_uc003equ.2_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	364	Extracellular (Potential).|Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R364L(2)		lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30																		---	---	---	---	capture		Missense_Mutation	SNP	134851685	134851685	5367	3	G	A	A	39	39	EPHB1	A	1	1
NCK1	4690	broad.mit.edu	37	3	136665106	136665106	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136665106G>T	uc003erh.2	+	3	1015	c.908G>T	c.(907-909)GGG>GTG	p.G303V	NCK1_uc011bme.1_Missense_Mutation_p.G239V	NM_006153	NP_006144	P16333	NCK1_HUMAN	NCK adaptor protein 1	303	SH2.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	136665106	136665106	10618	3	G	T	T	43	43	NCK1	T	2	2
HLTF	6596	broad.mit.edu	37	3	148789172	148789172	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148789172C>A	uc003ewq.1	-	7	979	c.761G>T	c.(760-762)CGG>CTG	p.R254L	HLTF_uc003ewr.1_Missense_Mutation_p.R254L|HLTF_uc003ews.1_Missense_Mutation_p.R254L|HLTF_uc010hve.1_Missense_Mutation_p.R254L	NM_139048	NP_620636	Q14527	HLTF_HUMAN	helicase-like transcription factor	254					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)															---	---	---	---	capture		Missense_Mutation	SNP	148789172	148789172	7506	3	C	A	A	23	23	HLTF	A	1	1
CP	1356	broad.mit.edu	37	3	148928058	148928058	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:148928058C>A	uc003ewy.3	-	3	756	c.503G>T	c.(502-504)GGG>GTG	p.G168V	CP_uc011bnr.1_RNA|CP_uc003ewx.3_5'Flank|CP_uc003ewz.2_Missense_Mutation_p.G168V|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	ceruloplasmin precursor	168	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			ovary(1)	1		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)													---	---	---	---	capture		Missense_Mutation	SNP	148928058	148928058	3925	3	C	A	A	22	22	CP	A	2	2
P2RY13	53829	broad.mit.edu	37	3	151046127	151046127	+	Silent	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151046127A>G	uc003eyv.2	-	2	738	c.717T>C	c.(715-717)TAT>TAC	p.Y239Y	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	239	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(3)|lung(1)	4			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)															---	---	---	---	capture		Silent	SNP	151046127	151046127	11763	3	A	G	G	16	16	P2RY13	G	4	4
SLITRK3	22865	broad.mit.edu	37	3	164907242	164907242	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164907242C>G	uc003fej.3	-	2	1821	c.1377G>C	c.(1375-1377)AAG>AAC	p.K459N	SLITRK3_uc003fek.2_Missense_Mutation_p.K459N	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	459	LRR 9.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	164907242	164907242	15242	3	C	G	G	32	32	SLITRK3	G	3	3
LRRC34	151827	broad.mit.edu	37	3	169521856	169521856	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169521856C>A	uc003ffx.2	-	6	618	c.603G>T	c.(601-603)CTG>CTT	p.L201L	LRRC34_uc003ffy.2_Silent_p.L201L|LRRC34_uc011bpn.1_Silent_p.L201L|LRRC34_uc003ffz.2_Silent_p.L153L|LRRC34_uc003fga.3_Silent_p.L153L	NM_153353	NP_699184	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	201											0	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)															---	---	---	---	capture		Silent	SNP	169521856	169521856	9364	3	C	A	A	21	21	LRRC34	A	2	2
FNDC3B	64778	broad.mit.edu	37	3	172052809	172052809	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172052809G>T	uc003fhy.2	+	15	1889	c.1717G>T	c.(1717-1719)GGA>TGA	p.G573*	FNDC3B_uc003fhz.3_Nonsense_Mutation_p.G573*|FNDC3B_uc003fia.2_Nonsense_Mutation_p.G504*	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	573	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		Nonsense_Mutation	SNP	172052809	172052809	6212	3	G	T	T	47	47	FNDC3B	T	5	2
FNDC3B	64778	broad.mit.edu	37	3	172060817	172060817	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172060817C>A	uc003fhy.2	+	18	2160	c.1988C>A	c.(1987-1989)CCT>CAT	p.P663H	FNDC3B_uc003fhz.3_Missense_Mutation_p.P663H	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	663	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	172060817	172060817	6212	3	C	A	A	24	24	FNDC3B	A	2	2
PIK3CA	5290	broad.mit.edu	37	3	178921477	178921477	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178921477G>T	uc003fjk.2	+	5	1116	c.959G>T	c.(958-960)GGA>GTA	p.G320V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	320					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			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	178921477	178921477	12337	3	G	T	T	41	41	PIK3CA	T	2	2
MFN1	55669	broad.mit.edu	37	3	179069752	179069752	+	Silent	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179069752A>T	uc003fjs.2	+	3	303	c.177A>T	c.(175-177)GGA>GGT	p.G59G	MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Silent_p.G87G	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	59	Cytoplasmic (Potential).				mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			ovary(2)|large_intestine(1)	3	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)															---	---	---	---	capture		Silent	SNP	179069752	179069752	9913	3	A	T	T	12	12	MFN1	T	4	4
EIF4G1	1981	broad.mit.edu	37	3	184039195	184039195	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184039195G>T	uc003fnp.2	+	10	1021	c.823G>T	c.(823-825)GGG>TGG	p.G275W	EIF4G1_uc003fno.1_Missense_Mutation_p.G216W|EIF4G1_uc010hxw.1_Missense_Mutation_p.G111W|EIF4G1_uc003fnt.2_5'UTR|EIF4G1_uc003fnq.2_Missense_Mutation_p.G188W|EIF4G1_uc003fnr.2_Missense_Mutation_p.G111W|EIF4G1_uc010hxx.2_Missense_Mutation_p.G282W|EIF4G1_uc003fns.2_Missense_Mutation_p.G235W|EIF4G1_uc010hxy.2_Missense_Mutation_p.G282W|EIF4G1_uc003fnv.3_Missense_Mutation_p.G275W|EIF4G1_uc003fnu.3_Missense_Mutation_p.G275W|EIF4G1_uc003fnw.2_Missense_Mutation_p.G282W|EIF4G1_uc003fnx.2_Missense_Mutation_p.G79W|EIF4G1_uc003fny.3_Missense_Mutation_p.G79W	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	275					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---	capture		Missense_Mutation	SNP	184039195	184039195	5227	3	G	T	T	43	43	EIF4G1	T	2	2
PCDH7	5099	broad.mit.edu	37	4	31144376	31144376	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:31144376G>T	uc011bxx.1	+	3	4657	c.3649G>T	c.(3649-3651)GAG>TAG	p.E1217*	PCDH7_uc011bxw.1_Nonsense_Mutation_p.E1170*	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	Error:Variant_position_missing_in_O60245_after_alignment					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	31144376	31144376	11936	4	G	T	T	45	45	PCDH7	T	5	2
CEP135	9662	broad.mit.edu	37	4	56832003	56832003	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56832003A>T	uc003hbi.2	+	8	1256	c.1022A>T	c.(1021-1023)GAT>GTT	p.D341V	CEP135_uc003hbj.2_Missense_Mutation_p.D47V|CEP135_uc010igz.1_Missense_Mutation_p.D171V	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	centrosome protein 4	341	Potential.				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---	capture		Missense_Mutation	SNP	56832003	56832003	3380	4	A	T	T	12	12	CEP135	T	4	4
AP1AR	55435	broad.mit.edu	37	4	113189328	113189328	+	Silent	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113189328A>G	uc003iaj.3	+	10	1025	c.672A>G	c.(670-672)GAA>GAG	p.E224E	AP1AR_uc003iak.3_Silent_p.E191E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	adaptor-related protein complex 1 associated	224					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle					0																		---	---	---	---	capture		Silent	SNP	113189328	113189328	740	4	A	G	G	2	2	AP1AR	G	4	4
MAML3	55534	broad.mit.edu	37	4	140810935	140810935	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:140810935G>T	uc003ihz.1	-	3	2395	c.1643C>A	c.(1642-1644)CCT>CAT	p.P548H	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3	548	Asn-rich.|Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			ovary(1)	1	all_hematologic(180;0.162)																	---	---	---	---	capture		Missense_Mutation	SNP	140810935	140810935	9590	4	G	T	T	35	35	MAML3	T	2	2
PLRG1	5356	broad.mit.edu	37	4	155461201	155461201	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155461201C>A	uc003iny.2	-	11	1007	c.944G>T	c.(943-945)TGG>TTG	p.W315L	PLRG1_uc003inz.2_Missense_Mutation_p.W306L	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	315	WD 3.					catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity				0	all_hematologic(180;0.215)	Renal(120;0.0854)																---	---	---	---	capture		Missense_Mutation	SNP	155461201	155461201	12532	4	C	A	A	21	21	PLRG1	A	2	2
FGA	2243	broad.mit.edu	37	4	155505405	155505405	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155505405C>A	uc003iod.1	-	6	2530	c.2472G>T	c.(2470-2472)GGG>GGT	p.G824G		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	824	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---	capture		Silent	SNP	155505405	155505405	6067	4	C	A	A	22	22	FGA	A	2	2
GUCY1A3	2982	broad.mit.edu	37	4	156632319	156632319	+	Silent	SNP	G	T	T	rs1049509		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156632319G>T	uc003iov.2	+	7	1538	c.1002G>T	c.(1000-1002)ACG>ACT	p.T334T	GUCY1A3_uc003iou.2_Silent_p.T334T|GUCY1A3_uc010iqc.2_Silent_p.T334T|GUCY1A3_uc003iow.2_Silent_p.T334T|GUCY1A3_uc010iqd.2_Silent_p.T333T|GUCY1A3_uc003iox.2_Silent_p.T334T|GUCY1A3_uc003ioz.2_Silent_p.T99T|GUCY1A3_uc003ioy.2_Silent_p.T334T|GUCY1A3_uc010iqe.2_Silent_p.T99T|GUCY1A3_uc003ipa.2_Intron|GUCY1A3_uc003ipb.2_Silent_p.T334T	NM_000856	NP_000847	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3 isoform A	334					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)														---	---	---	---	capture		Silent	SNP	156632319	156632319	7174	4	G	T	T	40	40	GUCY1A3	T	1	1
WDR17	116966	broad.mit.edu	37	4	177094441	177094441	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177094441A>T	uc003iuj.2	+	27	3541	c.3385A>T	c.(3385-3387)ACT>TCT	p.T1129S	WDR17_uc003iuk.2_Missense_Mutation_p.T1105S|WDR17_uc003ium.3_Missense_Mutation_p.T1090S|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.T340S	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	WD repeat domain 17 isoform 1	1129										ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	177094441	177094441	17850	4	A	T	T	10	10	WDR17	T	4	4
ODZ3	55714	broad.mit.edu	37	4	183603016	183603016	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183603016G>T	uc003ivd.1	+	10	1921	c.1884G>T	c.(1882-1884)GGG>GGT	p.G628G	ODZ3_uc003ive.1_Silent_p.G34G	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	628	EGF-like 4.|Extracellular (Potential).				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---	capture		Silent	SNP	183603016	183603016	11241	4	G	T	T	43	43	ODZ3	T	2	2
ODZ3	55714	broad.mit.edu	37	4	183675766	183675766	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183675766C>A	uc003ivd.1	+	21	4283	c.4246C>A	c.(4246-4248)CTG>ATG	p.L1416M	ODZ3_uc003ive.1_Missense_Mutation_p.L829M	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1416	Extracellular (Potential).|NHL 4.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---	capture		Missense_Mutation	SNP	183675766	183675766	11241	4	C	A	A	24	24	ODZ3	A	2	2
ACSL1	2180	broad.mit.edu	37	4	185687866	185687866	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185687866G>T	uc003iww.2	-	13	1467	c.1173C>A	c.(1171-1173)GAC>GAA	p.D391E	ACSL1_uc011ckm.1_Missense_Mutation_p.D220E|ACSL1_uc003iwt.1_Missense_Mutation_p.D391E|ACSL1_uc003iwu.1_Missense_Mutation_p.D391E|ACSL1_uc011ckn.1_Missense_Mutation_p.D357E|ACSL1_uc003iws.1_5'UTR	NM_001995	NP_001986	P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	391	Cytoplasmic (Potential).				digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			ovary(2)	2		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)													---	---	---	---	capture		Missense_Mutation	SNP	185687866	185687866	178	4	G	T	T	36	36	ACSL1	T	2	2
UFSP2	55325	broad.mit.edu	37	4	186343691	186343691	+	Silent	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186343691G>C	uc003ixo.2	-	2	147	c.30C>G	c.(28-30)CTC>CTG	p.L10L	UFSP2_uc003ixq.2_5'UTR|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	10						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)														---	---	---	---	capture		Silent	SNP	186343691	186343691	17496	4	G	C	C	33	33	UFSP2	C	3	3
ADAMTS16	170690	broad.mit.edu	37	5	5240017	5240017	+	Silent	SNP	C	G	G	rs72647759		TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5240017C>G	uc003jdl.2	+	16	2640	c.2502C>G	c.(2500-2502)ACC>ACG	p.T834T	ADAMTS16_uc003jdk.1_Silent_p.T834T	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	834	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8																		---	---	---	---	capture		Silent	SNP	5240017	5240017	262	5	C	G	G	21	21	ADAMTS16	G	3	3
ADCY2	108	broad.mit.edu	37	5	7695918	7695918	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7695918C>A	uc003jdz.1	+	6	990	c.923C>A	c.(922-924)CCG>CAG	p.P308Q	ADCY2_uc011cmo.1_Missense_Mutation_p.P128Q	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	308	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		Missense_Mutation	SNP	7695918	7695918	295	5	C	A	A	23	23	ADCY2	A	1	1
NPR3	4883	broad.mit.edu	37	5	32739032	32739032	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32739032C>A	uc003jhv.2	+	3	1173	c.955C>A	c.(955-957)CTC>ATC	p.L319I	NPR3_uc010iuo.2_Missense_Mutation_p.L103I|NPR3_uc011cnz.1_Missense_Mutation_p.L103I|NPR3_uc003jhu.2_Missense_Mutation_p.L319I	NM_000908	NP_000899	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase	319	Extracellular (Potential).				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			ovary(1)|central_nervous_system(1)	2					Nesiritide(DB04899)													---	---	---	---	capture		Missense_Mutation	SNP	32739032	32739032	11001	5	C	A	A	24	24	NPR3	A	2	2
THBS4	7060	broad.mit.edu	37	5	79372817	79372817	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79372817C>A	uc003kgh.2	+	17	2355	c.2032C>A	c.(2032-2034)CCT>ACT	p.P678T	uc003kgi.3_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	thrombospondin 4 precursor	678	TSP type-3 7.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity				0		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)														---	---	---	---	capture		Missense_Mutation	SNP	79372817	79372817	16384	5	C	A	A	22	22	THBS4	A	2	2
SEC24A	10802	broad.mit.edu	37	5	133996855	133996855	+	Silent	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133996855A>G	uc003kzs.2	+	2	432	c.144A>G	c.(142-144)CAA>CAG	p.Q48Q	SEC24A_uc011cxu.1_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	SEC24 related gene family, member A	48					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---	capture		Silent	SNP	133996855	133996855	14480	5	A	G	G	3	3	SEC24A	G	4	4
PCDHA5	56143	broad.mit.edu	37	5	140202419	140202419	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140202419C>A	uc003lhl.2	+	1	1059	c.1059C>A	c.(1057-1059)ACC>ACA	p.T353T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Silent_p.T353T|PCDHA5_uc003lhj.1_Silent_p.T353T	NM_018908	NP_061731	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5 isoform 1 precursor	353	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(1)|breast(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140202419	140202419	11947	5	C	A	A	22	22	PCDHA5	A	2	2
PCDHA13	56136	broad.mit.edu	37	5	140262130	140262130	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140262130G>T	uc003lif.2	+	1	277	c.277G>T	c.(277-279)GAG>TAG	p.E93*	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Nonsense_Mutation_p.E93*|PCDHA13_uc003lid.2_Nonsense_Mutation_p.E93*	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13 isoform 1 precursor	93	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Nonsense_Mutation	SNP	140262130	140262130	11943	5	G	T	T	37	37	PCDHA13	T	5	1
PCDHAC1	56135	broad.mit.edu	37	5	140307899	140307899	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140307899G>T	uc003lih.2	+	1	1598	c.1422G>T	c.(1420-1422)CTG>CTT	p.L474L	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.L474L	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1 isoform 1	474	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140307899	140307899	11952	5	G	T	T	47	47	PCDHAC1	T	2	2
PCDHAC2	56134	broad.mit.edu	37	5	140347837	140347837	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140347837C>A	uc003lii.2	+	1	1726	c.1486C>A	c.(1486-1488)CCA>ACA	p.P496T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.P496T	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	496	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140347837	140347837	11953	5	C	A	A	22	22	PCDHAC2	A	2	2
PCDHB6	56130	broad.mit.edu	37	5	140530173	140530173	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140530173C>A	uc003lir.2	+	1	335	c.335C>A	c.(334-336)CCC>CAC	p.P112H	PCDHB6_uc011dah.1_5'UTR	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6 precursor	112	Extracellular (Potential).|Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140530173	140530173	11966	5	C	A	A	22	22	PCDHB6	A	2	2
PCDHB16	57717	broad.mit.edu	37	5	140564195	140564195	+	Silent	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140564195T>C	uc003liv.2	+	1	3216	c.2061T>C	c.(2059-2061)ACT>ACC	p.T687T	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16 precursor	687	Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Silent	SNP	140564195	140564195	11961	5	T	C	C	55	55	PCDHB16	C	4	4
GRPEL2	134266	broad.mit.edu	37	5	148730657	148730657	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148730657G>T	uc003lqj.2	+	4	616	c.490G>T	c.(490-492)GAG>TAG	p.E164*	GRPEL2_uc011dca.1_3'UTR	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial precursor	164					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Nonsense_Mutation	SNP	148730657	148730657	7086	5	G	T	T	41	41	GRPEL2	T	5	2
PDGFRB	5159	broad.mit.edu	37	5	149511557	149511557	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149511557G>T	uc003lro.2	-	8	1697	c.1228C>A	c.(1228-1230)CAG>AAG	p.Q410K	PDGFRB_uc010jhd.2_Missense_Mutation_p.Q249K	NM_002609	NP_002600	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor beta	410	Extracellular (Potential).				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1)	17		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)			T	ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP	MPD|AML|CMML|CML								---	---	---	---	capture		Missense_Mutation	SNP	149511557	149511557	12083	5	G	T	T	47	47	PDGFRB	T	2	2
GALNT10	55568	broad.mit.edu	37	5	153760152	153760152	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153760152C>A	uc003lvh.2	+	6	1031	c.899C>A	c.(898-900)CCT>CAT	p.P300H	GALNT10_uc003lvg.1_Missense_Mutation_p.P300H|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.P141H	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	300	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---	capture		Missense_Mutation	SNP	153760152	153760152	6472	5	C	A	A	24	24	GALNT10	A	2	2
ADRA1B	147	broad.mit.edu	37	5	159344095	159344095	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159344095G>T	uc003lxt.1	+	1	356	c.183G>T	c.(181-183)GTG>GTT	p.V61V		NM_000679	NP_000670	P35368	ADA1B_HUMAN	alpha-1B-adrenergic receptor	61	Helical; Name=1; (By similarity).				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			lung(1)	1	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)													---	---	---	---	capture		Silent	SNP	159344095	159344095	336	5	G	T	T	47	47	ADRA1B	T	2	2
FABP6	2172	broad.mit.edu	37	5	159640821	159640821	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159640821G>C	uc003lxx.1	+	3	276	c.130G>C	c.(130-132)GGA>CGA	p.G44R	FABP6_uc003lxz.1_Missense_Mutation_p.G44R	NM_001130958	NP_001124430	P51161	FABP6_HUMAN	gastrotropin isoform 1	Error:Variant_position_missing_in_P51161_after_alignment					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	159640821	159640821	5558	5	G	C	C	35	35	FABP6	C	3	3
C5orf25	375484	broad.mit.edu	37	5	175717618	175717618	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:175717618C>A	uc003mds.3	+	4	1441	c.1034C>A	c.(1033-1035)CCT>CAT	p.P345H	C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P364H|uc003mdu.1_Missense_Mutation_p.P256H			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	345	Pro-rich.										0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)														---	---	---	---	capture		Missense_Mutation	SNP	175717618	175717618	2386	5	C	A	A	24	24	C5orf25	A	2	2
JARID2	3720	broad.mit.edu	37	6	15497104	15497104	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15497104G>T	uc003nbj.2	+	7	1892	c.1648G>T	c.(1648-1650)GGG>TGG	p.G550W	JARID2_uc011diu.1_Missense_Mutation_p.G414W|JARID2_uc011div.1_Missense_Mutation_p.G378W|JARID2_uc011diw.1_Missense_Mutation_p.G512W	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	550					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---	capture		Missense_Mutation	SNP	15497104	15497104	8249	6	G	T	T	39	39	JARID2	T	1	1
OR2J3	442186	broad.mit.edu	37	6	29080293	29080293	+	Missense_Mutation	SNP	T	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29080293T>G	uc011dll.1	+	1	626	c.626T>G	c.(625-627)TTT>TGT	p.F209C		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	29080293	29080293	11410	6	T	G	G	64	64	OR2J3	G	4	4
MAS1L	116511	broad.mit.edu	37	6	29454983	29454983	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29454983C>A	uc011dlq.1	-	1	697	c.697G>T	c.(697-699)GCT>TCT	p.A233S		NM_052967	NP_443199	P35410	MAS1L_HUMAN	MAS1 oncogene-like	233	Helical; Name=5; (Potential).					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			ovary(7)|lung(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	29454983	29454983	9705	6	C	A	A	25	25	MAS1L	A	2	2
LY6G5B	58496	broad.mit.edu	37	6	31638749	31638749	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31638749G>T	uc003nvt.1	+	1	22	c.22G>T	c.(22-24)GGT>TGT	p.G8C	CSNK2B_uc003nvs.1_Intron	NM_021221	NP_067044	Q8NDX9	LY65B_HUMAN	lymphocyte antigen 6 complex G5B precursor	8						extracellular region					0																		---	---	---	---	capture		Missense_Mutation	SNP	31638749	31638749	9469	6	G	T	T	35	35	LY6G5B	T	2	2
NOTCH4	4855	broad.mit.edu	37	6	32187468	32187468	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32187468G>T	uc003obb.2	-	8	1550	c.1411C>A	c.(1411-1413)CGT>AGT	p.R471S	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.R471S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	471	EGF-like 11; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22																		---	---	---	---	capture		Missense_Mutation	SNP	32187468	32187468	10954	6	G	T	T	39	39	NOTCH4	T	1	1
COL11A2	1302	broad.mit.edu	37	6	33146896	33146896	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33146896C>A	uc003ocx.1	-	16	1793	c.1565G>T	c.(1564-1566)AGA>ATA	p.R522I	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.R436I|COL11A2_uc003ocz.1_Missense_Mutation_p.R415I	NM_080680	NP_542411	P13942	COBA2_HUMAN	collagen, type XI, alpha 2 isoform 1	522	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	33146896	33146896	3806	6	C	A	A	32	32	COL11A2	A	2	2
ENPP5	59084	broad.mit.edu	37	6	46129247	46129247	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46129247G>T	uc003oxz.1	-	4	1458	c.1250C>A	c.(1249-1251)CCT>CAT	p.P417H	ENPP5_uc003oya.1_Missense_Mutation_p.P417H|ENPP5_uc011dvz.1_Missense_Mutation_p.P323H|ENPP5_uc010jzc.1_3'UTR	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	417						extracellular region|integral to membrane	hydrolase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	46129247	46129247	5326	6	G	T	T	35	35	ENPP5	T	2	2
PKHD1	5314	broad.mit.edu	37	6	51890462	51890462	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51890462G>T	uc003pah.1	-	32	4422	c.4146C>A	c.(4144-4146)CTC>CTA	p.L1382L	PKHD1_uc003pai.2_Silent_p.L1382L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	1382	IPT/TIG 8; atypical.|Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Silent	SNP	51890462	51890462	12396	6	G	T	T	41	41	PKHD1	T	2	2
FAM83B	222584	broad.mit.edu	37	6	54735295	54735295	+	Missense_Mutation	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54735295A>T	uc003pck.2	+	2	367	c.251A>T	c.(250-252)GAT>GTT	p.D84V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	84										ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---	capture		Missense_Mutation	SNP	54735295	54735295	5860	6	A	T	T	12	12	FAM83B	T	4	4
CD109	135228	broad.mit.edu	37	6	74477846	74477846	+	Silent	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74477846A>G	uc003php.2	+	14	1991	c.1566A>G	c.(1564-1566)GAA>GAG	p.E522E	CD109_uc010kaz.2_Silent_p.E522E|CD109_uc003phq.2_Silent_p.E522E|CD109_uc010kba.2_Silent_p.E445E	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	CD109 antigen isoform 1 precursor	522						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---	capture		Silent	SNP	74477846	74477846	3090	6	A	G	G	1	1	CD109	G	4	4
PHIP	55023	broad.mit.edu	37	6	79735246	79735246	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:79735246G>T	uc003pir.2	-	9	1139	c.913C>A	c.(913-915)CTT>ATT	p.L305I	PHIP_uc011dyp.1_Missense_Mutation_p.L305I	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	305	WD 3.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)														---	---	---	---	capture		Missense_Mutation	SNP	79735246	79735246	12266	6	G	T	T	35	35	PHIP	T	2	2
SAMD3	154075	broad.mit.edu	37	6	130505284	130505284	+	Missense_Mutation	SNP	C	A	A	rs41285308	byFrequency;by1000genomes	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130505284C>A	uc003qbv.2	-	8	944	c.618G>T	c.(616-618)CAG>CAT	p.Q206H	SAMD3_uc003qbx.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbw.2_Missense_Mutation_p.Q206H|SAMD3_uc010kfg.1_Missense_Mutation_p.Q206H|SAMD3_uc003qby.2_Missense_Mutation_p.Q206H|SAMD3_uc003qbz.1_Missense_Mutation_p.Q165H	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3 isoform	206										ovary(1)	1				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	130505284	130505284	14300	6	C	A	A	24	24	SAMD3	A	2	2
ENPP3	5169	broad.mit.edu	37	6	132014691	132014691	+	Nonsense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132014691C>T	uc003qcu.3	+	16	1686	c.1339C>T	c.(1339-1341)CGA>TGA	p.R447*	ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Nonsense_Mutation_p.R447*	NM_005021	NP_005012	O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	447	Extracellular (Potential).|Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)														---	---	---	---	capture		Nonsense_Mutation	SNP	132014691	132014691	5324	6	C	T	T	27	27	ENPP3	T	5	1
SLC35D3	340146	broad.mit.edu	37	6	137245645	137245645	+	Silent	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137245645C>T	uc003qhe.2	+	2	1227	c.1062C>T	c.(1060-1062)GGC>GGT	p.G354G		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	354					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)														---	---	---	---	capture		Silent	SNP	137245645	137245645	15080	6	C	T	T	26	26	SLC35D3	T	2	2
RAB32	10981	broad.mit.edu	37	6	146870640	146870640	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146870640G>T	uc003qln.1	+	2	471	c.291G>T	c.(289-291)AAG>AAT	p.K97N		NM_006834	NP_006825	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	97					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding				0		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)														---	---	---	---	capture		Missense_Mutation	SNP	146870640	146870640	13380	6	G	T	T	35	35	RAB32	T	2	2
MTRF1L	54516	broad.mit.edu	37	6	153311041	153311041	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153311041G>T	uc003qpi.3	-	7	1237	c.1132C>A	c.(1132-1134)CAA>AAA	p.Q378K	MTRF1L_uc003qpl.3_3'UTR|MTRF1L_uc011efa.1_Missense_Mutation_p.Q342K|MTRF1L_uc003qpj.3_Missense_Mutation_p.Q236K|MTRF1L_uc003qpk.3_3'UTR	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor	378						mitochondrion	translation release factor activity, codon specific				0		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)														---	---	---	---	capture		Missense_Mutation	SNP	153311041	153311041	10353	6	G	T	T	47	47	MTRF1L	T	2	2
PDE10A	10846	broad.mit.edu	37	6	165756886	165756886	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:165756886C>A	uc003qun.2	-	20	2302	c.2061G>T	c.(2059-2061)TGG>TGT	p.W687C	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.W617C|PDE10A_uc003quo.2_Missense_Mutation_p.W697C	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	687					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		Missense_Mutation	SNP	165756886	165756886	12051	6	C	A	A	22	22	PDE10A	A	2	2
MLLT4	4301	broad.mit.edu	37	6	168347398	168347398	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168347398C>T	uc003qwd.2	+	26	3488	c.3346C>T	c.(3346-3348)CGT>TGT	p.R1116C	MLLT4_uc003qwb.1_Missense_Mutation_p.R1101C|MLLT4_uc003qwc.1_Missense_Mutation_p.R1117C|MLLT4_uc003qwg.1_Missense_Mutation_p.R426C	NM_001040001	NP_001035090	P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1117					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			ovary(2)|lung(1)|kidney(1)|central_nervous_system(1)	5		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)				T	MLL	AL								---	---	---	---	capture		Missense_Mutation	SNP	168347398	168347398	10019	6	C	T	T	31	31	MLLT4	T	1	1
THBS2	7058	broad.mit.edu	37	6	169637334	169637334	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:169637334G>T	uc003qwt.2	-	10	1656	c.1408C>A	c.(1408-1410)CAG>AAG	p.Q470K		NM_003247	NP_003238	P35442	TSP2_HUMAN	thrombospondin 2 precursor	470	TSP type-1 2.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			ovary(5)	5		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)														---	---	---	---	capture		Missense_Mutation	SNP	169637334	169637334	16382	6	G	T	T	47	47	THBS2	T	2	2
RPA3	6119	broad.mit.edu	37	7	7678764	7678764	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7678764G>T	uc003sri.2	-	6	1283	c.111C>A	c.(109-111)ACC>ACA	p.T37T	RPA3_uc003srh.2_5'UTR	NM_002947	NP_002938	P35244	RFA3_HUMAN	replication protein A3, 14kDa	37					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	cytoplasm|DNA replication factor A complex|nucleoplasm	protein binding|single-stranded DNA binding			large_intestine(1)	1		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)									Direct_reversal_of_damage|NER					---	---	---	---	capture		Silent	SNP	7678764	7678764	14017	7	G	T	T	39	39	RPA3	T	1	1
FAM188B	84182	broad.mit.edu	37	7	30915183	30915183	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30915183G>T	uc003tbt.2	+	15	1960	c.1883G>T	c.(1882-1884)GGG>GTG	p.G628V	FAM188B_uc010kwe.2_Missense_Mutation_p.G599V|AQP1_uc011kac.1_5'UTR|FAM188B_uc003tbu.2_Missense_Mutation_p.G148V	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	hypothetical protein LOC84182	628											0																		---	---	---	---	capture		Missense_Mutation	SNP	30915183	30915183	5725	7	G	T	T	43	43	FAM188B	T	2	2
CACNA2D1	781	broad.mit.edu	37	7	81591314	81591314	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81591314C>A	uc003uhr.1	-	36	3118	c.2862G>T	c.(2860-2862)ACG>ACT	p.T954T	CACNA2D1_uc011kgy.1_Silent_p.T166T	NM_000722	NP_000713	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha	966	Extracellular (Potential).					voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)													---	---	---	---	capture		Silent	SNP	81591314	81591314	2664	7	C	A	A	23	23	CACNA2D1	A	1	1
GRM3	2913	broad.mit.edu	37	7	86493636	86493636	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:86493636C>A	uc003uid.2	+	6	3704	c.2605C>A	c.(2605-2607)CGG>AGG	p.R869R	GRM3_uc010lef.2_Missense_Mutation_p.A511E|GRM3_uc010leg.2_Silent_p.R741R|GRM3_uc010leh.2_Silent_p.R461R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3 precursor	869	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---	capture		Silent	SNP	86493636	86493636	7077	7	C	A	A	27	27	GRM3	A	1	1
TAF6	6878	broad.mit.edu	37	7	99710464	99710464	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99710464G>T	uc003uti.2	-	6	612	c.531C>A	c.(529-531)CCC>CCA	p.P177P	TAF6_uc003utg.2_Silent_p.P99P|TAF6_uc003uth.2_Silent_p.P234P|TAF6_uc003utk.2_Silent_p.P177P|TAF6_uc011kji.1_Silent_p.P214P|TAF6_uc003utj.2_Silent_p.P167P|TAF6_uc003utl.2_Silent_p.P177P|TAF6_uc003utm.2_Silent_p.P177P|TAF6_uc003utn.1_RNA	NM_139315	NP_647476	P49848	TAF6_HUMAN	TBP-associated factor 6 isoform alpha	177					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Silent	SNP	99710464	99710464	16051	7	G	T	T	43	43	TAF6	T	2	2
MUC17	140453	broad.mit.edu	37	7	100686777	100686777	+	Missense_Mutation	SNP	C	A	A	rs138142210	byFrequency;by1000genomes	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100686777C>A	uc003uxp.1	+	3	12133	c.12080C>A	c.(12079-12081)ACG>AAG	p.T4027K	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4027	Extracellular (Potential).					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		Missense_Mutation	SNP	100686777	100686777	10368	7	C	A	A	19	19	MUC17	A	1	1
CLDN15	24146	broad.mit.edu	37	7	100880666	100880666	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100880666G>T	uc003uyg.1	-	1	451	c.197C>A	c.(196-198)CCG>CAG	p.P66Q	CLDN15_uc003uyh.1_Missense_Mutation_p.P66Q|CLDN15_uc003uyi.2_Missense_Mutation_p.P66Q	NM_014343	NP_055158	P56746	CLD15_HUMAN	claudin 15	66	Extracellular (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(1)	1	Lung NSC(181;0.168)|all_lung(186;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	100880666	100880666	3612	7	G	T	T	39	39	CLDN15	T	1	1
CADPS2	93664	broad.mit.edu	37	7	122303469	122303469	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122303469C>A	uc010lkp.2	-	3	771	c.608G>T	c.(607-609)TGG>TTG	p.W203L	CADPS2_uc010lkq.2_Missense_Mutation_p.W203L	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	203					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	122303469	122303469	2687	7	C	A	A	21	21	CADPS2	A	2	2
RNF133	168433	broad.mit.edu	37	7	122338498	122338498	+	Nonsense_Mutation	SNP	T	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122338498T>A	uc003vkj.1	-	1	711	c.475A>T	c.(475-477)AAA>TAA	p.K159*	CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	ring finger protein 133	159	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			skin(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	122338498	122338498	13916	7	T	A	A	64	64	RNF133	A	5	4
PLXNA4	91584	broad.mit.edu	37	7	132193312	132193312	+	Silent	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132193312G>C	uc003vra.3	-	2	370	c.141C>G	c.(139-141)CCC>CCG	p.P47P	PLXNA4_uc003vrc.2_Silent_p.P47P|PLXNA4_uc003vrb.2_Silent_p.P47P	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	47	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	132193312	132193312	12548	7	G	C	C	39	39	PLXNA4	C	3	3
EXOC4	60412	broad.mit.edu	37	7	133314881	133314881	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:133314881C>A	uc003vrk.2	+	10	1536	c.1501C>A	c.(1501-1503)CAC>AAC	p.H501N	EXOC4_uc011kpo.1_Missense_Mutation_p.H400N|EXOC4_uc003vrl.2_Missense_Mutation_p.H111N|EXOC4_uc011kpp.1_Missense_Mutation_p.H33N	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	SEC8 protein isoform a	501					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9		Esophageal squamous(399;0.129)																---	---	---	---	capture		Missense_Mutation	SNP	133314881	133314881	5499	7	C	A	A	21	21	EXOC4	A	2	2
TRIM24	8805	broad.mit.edu	37	7	138262284	138262284	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138262284C>A	uc003vuc.2	+	14	2422	c.2207C>A	c.(2206-2208)CCT>CAT	p.P736H	TRIM24_uc003vub.2_Missense_Mutation_p.P702H	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	736					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	138262284	138262284	17042	7	C	A	A	24	24	TRIM24	A	2	2
PARP12	64761	broad.mit.edu	37	7	139726098	139726098	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:139726098C>A	uc003vvl.1	-	11	2553	c.1679G>T	c.(1678-1680)CGG>CTG	p.R560L	PARP12_uc003vvk.1_Missense_Mutation_p.R346L|PARP12_uc010lnf.1_RNA	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	poly ADP-ribose polymerase 12	560	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)	3	Melanoma(164;0.0142)																	---	---	---	---	capture		Missense_Mutation	SNP	139726098	139726098	11874	7	C	A	A	23	23	PARP12	A	1	1
TRPV6	55503	broad.mit.edu	37	7	142574967	142574967	+	Missense_Mutation	SNP	G	T	T	rs141260669	byFrequency	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142574967G>T	uc003wbx.1	-	4	631	c.415C>A	c.(415-417)CGC>AGC	p.R139S	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_Missense_Mutation_p.R10S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel,	139	ANK 3.|Cytoplasmic (Potential).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			ovary(2)	2	Melanoma(164;0.059)																	---	---	---	---	capture		Missense_Mutation	SNP	142574967	142574967	17151	7	G	T	T	39	39	TRPV6	T	1	1
OR2A12	346525	broad.mit.edu	37	7	143793122	143793122	+	Silent	SNP	A	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143793122A>C	uc011kty.1	+	1	922	c.922A>C	c.(922-924)AGA>CGA	p.R308R		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	308	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)																	---	---	---	---	capture		Silent	SNP	143793122	143793122	11381	7	A	C	C	11	11	OR2A12	C	4	4
CUL1	8454	broad.mit.edu	37	7	148495745	148495745	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148495745G>T	uc010lpg.2	+	20	2638	c.2112G>T	c.(2110-2112)GAG>GAT	p.E704D	CUL1_uc003wey.2_Missense_Mutation_p.E704D|CUL1_uc003wez.2_Missense_Mutation_p.E594D|CUL1_uc003wfa.2_Missense_Mutation_p.E365D	NM_003592	NP_003583	Q13616	CUL1_HUMAN	cullin 1	704					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			lung(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)															---	---	---	---	capture		Missense_Mutation	SNP	148495745	148495745	4214	7	G	T	T	35	35	CUL1	T	2	2
UBE3C	9690	broad.mit.edu	37	7	156974359	156974359	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:156974359G>T	uc010lqs.2	+	7	1076	c.764G>T	c.(763-765)GGT>GTT	p.G255V	UBE3C_uc003wnf.2_Missense_Mutation_p.G212V|UBE3C_uc003wng.2_Missense_Mutation_p.G255V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	255					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(2)|large_intestine(1)	5		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	156974359	156974359	17439	7	G	T	T	44	44	UBE3C	T	2	2
SNTG1	54212	broad.mit.edu	37	8	51449319	51449319	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:51449319C>A	uc010lxy.1	+	12	1002	c.631C>A	c.(631-633)CTA>ATA	p.L211I	SNTG1_uc003xqs.1_Missense_Mutation_p.L211I|SNTG1_uc010lxz.1_Missense_Mutation_p.L211I|SNTG1_uc011ldl.1_RNA	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	211					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			ovary(5)	5		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)																---	---	---	---	capture		Missense_Mutation	SNP	51449319	51449319	15374	8	C	A	A	32	32	SNTG1	A	2	2
CPA6	57094	broad.mit.edu	37	8	68423884	68423884	+	Silent	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68423884G>T	uc003xxq.3	-	4	580	c.324C>A	c.(322-324)CTC>CTA	p.L108L	CPA6_uc003xxr.3_5'UTR|CPA6_uc003xxs.2_Silent_p.L108L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6 isoform 1 precursor	108					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)															---	---	---	---	capture		Silent	SNP	68423884	68423884	3932	8	G	T	T	45	45	CPA6	T	2	2
PREX2	80243	broad.mit.edu	37	8	69009359	69009359	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69009359G>T	uc003xxv.1	+	22	2503	c.2476G>T	c.(2476-2478)GAC>TAC	p.D826Y	PREX2_uc003xxu.1_Missense_Mutation_p.D826Y|PREX2_uc011lez.1_Missense_Mutation_p.D761Y	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	826					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17																		---	---	---	---	capture		Missense_Mutation	SNP	69009359	69009359	12920	8	G	T	T	37	37	PREX2	T	1	1
C8orf34	116328	broad.mit.edu	37	8	69351818	69351818	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69351818C>A	uc010lyz.2	+	2	203	c.154C>A	c.(154-156)CGT>AGT	p.R52S	C8orf34_uc010lyx.1_Missense_Mutation_p.R52S|C8orf34_uc010lyy.1_Missense_Mutation_p.R52S|C8orf34_uc003xyb.2_Missense_Mutation_p.R27S	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	52					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	69351818	69351818	2532	8	C	A	A	23	23	C8orf34	A	1	1
SLCO5A1	81796	broad.mit.edu	37	8	70744099	70744099	+	Silent	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70744099C>G	uc003xyl.2	-	2	1517	c.810G>C	c.(808-810)GCG>GCC	p.A270A	SLCO5A1_uc010lzb.2_Silent_p.A270A|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Silent_p.A270A|SLCO5A1_uc010lzc.2_Silent_p.A270A	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	270	Helical; Name=4; (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)															---	---	---	---	capture		Silent	SNP	70744099	70744099	15228	8	C	G	G	27	27	SLCO5A1	G	3	3
FBXO43	286151	broad.mit.edu	37	8	101153374	101153374	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101153374C>A	uc003yjd.2	-	2	1821	c.1108G>T	c.(1108-1110)GAC>TAC	p.D370Y	FBXO43_uc003yje.2_Missense_Mutation_p.D336Y|FBXO43_uc010mbp.1_Missense_Mutation_p.D370Y	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	F-box protein 43 isoform b	370					meiosis		zinc ion binding			kidney(1)|skin(1)	2	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---	capture		Missense_Mutation	SNP	101153374	101153374	5989	8	C	A	A	30	30	FBXO43	A	2	2
OXR1	55074	broad.mit.edu	37	8	107752689	107752689	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:107752689C>A	uc011lht.1	+	13	2384	c.2285C>A	c.(2284-2286)CCA>CAA	p.P762Q	OXR1_uc003ymf.2_Missense_Mutation_p.P734Q|OXR1_uc011lhu.1_Missense_Mutation_p.P727Q|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Missense_Mutation_p.P390Q|OXR1_uc003ymk.2_Missense_Mutation_p.P131Q|OXR1_uc003yml.2_Missense_Mutation_p.P104Q	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	oxidation resistance 1 isoform 1	762	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion					0			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)															---	---	---	---	capture		Missense_Mutation	SNP	107752689	107752689	11747	8	C	A	A	21	21	OXR1	A	2	2
ZFAT	57623	broad.mit.edu	37	8	135621002	135621002	+	Missense_Mutation	SNP	G	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:135621002G>A	uc003yup.2	-	5	930	c.755C>T	c.(754-756)ACA>ATA	p.T252I	ZFAT_uc003yun.2_Missense_Mutation_p.T240I|ZFAT_uc003yuo.2_Missense_Mutation_p.T240I|ZFAT_uc010meh.2_Missense_Mutation_p.T240I|ZFAT_uc010mei.2_RNA|ZFAT_uc003yuq.2_Missense_Mutation_p.T240I|ZFAT_uc010mej.2_Missense_Mutation_p.T190I|ZFAT_uc003yur.2_Missense_Mutation_p.T240I	NM_020863	NP_065914	Q9P243	ZFAT_HUMAN	zinc finger protein 406 isoform ZFAT-1	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)															---	---	---	---	capture		Missense_Mutation	SNP	135621002	135621002	18220	8	G	A	A	48	48	ZFAT	A	2	2
ELAVL2	1993	broad.mit.edu	37	9	23701384	23701384	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:23701384G>C	uc003zpu.2	-	5	981	c.706C>G	c.(706-708)CGT>GGT	p.R236G	ELAVL2_uc003zps.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpt.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpv.2_Missense_Mutation_p.R236G|ELAVL2_uc003zpw.2_Missense_Mutation_p.R236G	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	236					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)														---	---	---	---	capture		Missense_Mutation	SNP	23701384	23701384	5241	9	G	C	C	38	38	ELAVL2	C	3	3
PRUNE2	158471	broad.mit.edu	37	9	79323950	79323950	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79323950G>C	uc010mpk.2	-	8	3364	c.3240C>G	c.(3238-3240)GAC>GAG	p.D1080E		NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	1080					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	79323950	79323950	13092	9	G	C	C	40	40	PRUNE2	C	3	3
UBQLN1	29979	broad.mit.edu	37	9	86322464	86322464	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86322464G>T	uc004amv.2	-	1	705	c.131C>A	c.(130-132)CCG>CAG	p.P44Q	UBQLN1_uc004amw.2_Missense_Mutation_p.P44Q|uc004amx.2_5'Flank	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	ubiquilin 1 isoform 1	44	Ubiquitin-like.				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	86322464	86322464	17454	9	G	T	T	39	39	UBQLN1	T	1	1
NFIL3	4783	broad.mit.edu	37	9	94172328	94172328	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94172328C>A	uc004arh.2	-	2	1084	c.689G>T	c.(688-690)AGG>ATG	p.R230M		NM_005384	NP_005375	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	230					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	94172328	94172328	10773	9	C	A	A	24	24	NFIL3	A	2	2
HEMGN	55363	broad.mit.edu	37	9	100693232	100693232	+	Nonsense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100693232C>A	uc004axy.2	-	3	553	c.445G>T	c.(445-447)GAG>TAG	p.E149*	HEMGN_uc004axz.2_Nonsense_Mutation_p.E149*	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	149					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---	capture		Nonsense_Mutation	SNP	100693232	100693232	7333	9	C	A	A	29	29	HEMGN	A	5	2
ZNF462	58499	broad.mit.edu	37	9	109701280	109701280	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109701280G>T	uc004bcz.2	+	7	6608	c.6319G>T	c.(6319-6321)GGA>TGA	p.G2107*	ZNF462_uc010mto.2_Nonsense_Mutation_p.G2016*|ZNF462_uc004bda.2_Nonsense_Mutation_p.G2015*|ZNF462_uc011lvz.1_Nonsense_Mutation_p.G64*|ZNF462_uc004bdb.1_Nonsense_Mutation_p.G15*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	2107					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	109701280	109701280	18519	9	G	T	T	39	39	ZNF462	T	5	1
SVEP1	79987	broad.mit.edu	37	9	113148261	113148261	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113148261C>A	uc010mtz.2	-	43	10491	c.10154G>T	c.(10153-10155)AGG>ATG	p.R3385M	SVEP1_uc010mty.2_Missense_Mutation_p.R1311M	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	3385	Sushi 33.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---	capture		Missense_Mutation	SNP	113148261	113148261	15940	9	C	A	A	24	24	SVEP1	A	2	2
SVEP1	79987	broad.mit.edu	37	9	113245918	113245918	+	Silent	SNP	C	A	A	rs144291523	by1000genomes	TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113245918C>A	uc010mtz.2	-	10	2323	c.1986G>T	c.(1984-1986)TCG>TCT	p.S662S	SVEP1_uc010mua.1_Silent_p.S662S|SVEP1_uc004beu.2_Silent_p.S662S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	662	HYR 2.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---	capture		Silent	SNP	113245918	113245918	15940	9	C	A	A	23	23	SVEP1	A	1	1
CEP110	11064	broad.mit.edu	37	9	123875857	123875857	+	Silent	SNP	A	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123875857A>T	uc004bkx.1	+	8	1231	c.1200A>T	c.(1198-1200)ACA>ACT	p.T400T	CEP110_uc004bkw.2_Silent_p.T400T|CEP110_uc004bky.1_Silent_p.T4T	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	400					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0																		---	---	---	---	capture		Silent	SNP	123875857	123875857	3378	9	A	T	T	7	7	CEP110	T	4	4
CERCAM	51148	broad.mit.edu	37	9	131185246	131185246	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131185246G>T	uc004buz.3	+	2	695	c.297G>T	c.(295-297)GAG>GAT	p.E99D	CERCAM_uc004buy.1_Missense_Mutation_p.E21D|CERCAM_uc010mxz.2_Missense_Mutation_p.E21D|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule 1	99					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	131185246	131185246	3399	9	G	T	T	35	35	CERCAM	T	2	2
CEL	1056	broad.mit.edu	37	9	135941993	135941993	+	Silent	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135941993C>T	uc010naa.1	+	5	640	c.624C>T	c.(622-624)CCC>CCT	p.P208P		NM_001807	NP_001798	P19835	CEL_HUMAN	carboxyl ester lipase precursor	205					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)														---	---	---	---	capture		Silent	SNP	135941993	135941993	3342	9	C	T	T	21	21	CEL	T	2	2
CACNA1B	774	broad.mit.edu	37	9	140901258	140901258	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140901258G>T	uc004cog.2	+	16	2159	c.2014G>T	c.(2014-2016)GGG>TGG	p.G672W	CACNA1B_uc011mfd.1_Missense_Mutation_p.G203W	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type,	672	Extracellular (Potential).|II.				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	140901258	140901258	2655	9	G	T	T	39	39	CACNA1B	T	1	1
MID1	4281	broad.mit.edu	37	X	10491170	10491170	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10491170G>T	uc004cte.3	-	3	909	c.718C>A	c.(718-720)CTT>ATT	p.L240I	MID1_uc004ctd.3_5'UTR|MID1_uc004ctg.3_Missense_Mutation_p.L240I|MID1_uc004cth.3_Missense_Mutation_p.L202I|MID1_uc004ctk.3_Missense_Mutation_p.L240I|MID1_uc004cti.3_Missense_Mutation_p.L240I|MID1_uc004ctj.3_Missense_Mutation_p.L240I|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.L240I|MID1_uc004ctn.1_Missense_Mutation_p.L240I|MID1_uc004cto.1_Missense_Mutation_p.L202I|MID1_uc010ndw.1_5'UTR|MID1_uc004cts.1_5'UTR|MID1_uc004ctt.2_Missense_Mutation_p.L240I|MID1_uc004ctu.2_Missense_Mutation_p.L240I|MID1_uc004ctv.2_Missense_Mutation_p.L202I|MID1_uc004ctw.2_Missense_Mutation_p.L202I|MID1_uc010ndy.1_Missense_Mutation_p.L240I|uc010ndz.1_Intron|MID1_uc004cty.2_Missense_Mutation_p.L202I|MID1_uc004ctz.1_RNA|MID1_uc004cua.1_RNA|MID1_uc004cub.1_Missense_Mutation_p.L240I	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	240	Potential.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	10491170	10491170	9966	23	G	T	T	35	35	MID1	T	2	2
FAM48B2	170067	broad.mit.edu	37	X	24330456	24330456	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24330456G>T	uc011mjw.1	-	1	977	c.977C>A	c.(976-978)CCA>CAA	p.P326Q		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	family with sequence similarity 48, member B2	326											0																		---	---	---	---	capture		Missense_Mutation	SNP	24330456	24330456	5796	23	G	T	T	47	47	FAM48B2	T	2	2
FAM47C	442444	broad.mit.edu	37	X	37027657	37027657	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37027657C>G	uc004ddl.1	+	1	1188	c.1174C>G	c.(1174-1176)CCA>GCA	p.P392A		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	392										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	37027657	37027657	5792	23	C	G	G	22	22	FAM47C	G	3	3
XK	7504	broad.mit.edu	37	X	37587452	37587452	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37587452G>T	uc004ddq.2	+	3	1154	c.1072G>T	c.(1072-1074)GGG>TGG	p.G358W		NM_021083	NP_066569	P51811	XK_HUMAN	membrane transport protein XK	358	Helical; (Potential).				amino acid transport	integral to membrane	protein binding|transporter activity				0		all_lung(315;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	37587452	37587452	18012	23	G	T	T	47	47	XK	T	2	2
CACNA1F	778	broad.mit.edu	37	X	49067838	49067838	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49067838C>A	uc004dnb.2	-	36	4299	c.4237G>T	c.(4237-4239)GGT>TGT	p.G1413C	CACNA1F_uc010nip.2_Missense_Mutation_p.G1402C	NM_005183	NP_005174	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type,	1413	Phenylalkylamine binding (By similarity).|Extracellular (Potential).|IV.|Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)													---	---	---	---	capture		Missense_Mutation	SNP	49067838	49067838	2659	23	C	A	A	21	21	CACNA1F	A	2	2
PHF8	23133	broad.mit.edu	37	X	54011375	54011375	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54011375C>A	uc004dsu.2	-	18	2596	c.2523G>T	c.(2521-2523)TTG>TTT	p.L841F	PHF8_uc004dst.2_Missense_Mutation_p.L805F|PHF8_uc004dsv.2_Missense_Mutation_p.L671F|PHF8_uc004dsw.2_Missense_Mutation_p.L704F|PHF8_uc004dsx.2_Missense_Mutation_p.L569F|PHF8_uc004dsy.2_Missense_Mutation_p.L788F	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	841					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	54011375	54011375	12263	23	C	A	A	21	21	PHF8	A	2	2
ZC3H12B	340554	broad.mit.edu	37	X	64721966	64721966	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64721966C>A	uc010nko.2	+	5	1364	c.1355C>A	c.(1354-1356)CCC>CAC	p.P452H		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	452							endonuclease activity|nucleic acid binding|zinc ion binding			lung(1)|kidney(1)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	64721966	64721966	18150	23	C	A	A	22	22	ZC3H12B	A	2	2
HEPH	9843	broad.mit.edu	37	X	65392409	65392409	+	Missense_Mutation	SNP	C	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65392409C>G	uc011moz.1	+	3	449	c.389C>G	c.(388-390)CCT>CGT	p.P130R	HEPH_uc004dwn.2_Missense_Mutation_p.P130R|HEPH_uc004dwo.2_5'UTR|HEPH_uc010nkr.2_Missense_Mutation_p.P130R|HEPH_uc011mpa.1_Missense_Mutation_p.P130R	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	127	Extracellular (Potential).|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9																		---	---	---	---	capture		Missense_Mutation	SNP	65392409	65392409	7337	23	C	G	G	24	24	HEPH	G	3	3
HEPH	9843	broad.mit.edu	37	X	65427122	65427122	+	Missense_Mutation	SNP	A	G	G			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65427122A>G	uc011moz.1	+	14	2446	c.2386A>G	c.(2386-2388)ACA>GCA	p.T796A	HEPH_uc004dwn.2_Missense_Mutation_p.T796A|HEPH_uc004dwo.2_Missense_Mutation_p.T526A|HEPH_uc010nkr.2_Missense_Mutation_p.T604A|HEPH_uc011mpa.1_Missense_Mutation_p.T796A|HEPH_uc010nks.2_Missense_Mutation_p.T85A	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	793	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9																		---	---	---	---	capture		Missense_Mutation	SNP	65427122	65427122	7337	23	A	G	G	14	14	HEPH	G	4	4
HEPH	9843	broad.mit.edu	37	X	65427158	65427158	+	Nonsense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65427158G>T	uc011moz.1	+	14	2482	c.2422G>T	c.(2422-2424)GAA>TAA	p.E808*	HEPH_uc004dwn.2_Nonsense_Mutation_p.E808*|HEPH_uc004dwo.2_Nonsense_Mutation_p.E538*|HEPH_uc010nkr.2_Nonsense_Mutation_p.E616*|HEPH_uc011mpa.1_Nonsense_Mutation_p.E808*|HEPH_uc010nks.2_Nonsense_Mutation_p.E97*	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	805	Extracellular (Potential).|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	65427158	65427158	7337	23	G	T	T	33	33	HEPH	T	5	2
PGK1	5230	broad.mit.edu	37	X	77369512	77369512	+	Splice_Site	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77369512G>T	uc004ecz.3	+	4	445	c.273_splice	c.e4-1	p.K91_splice	PGK1_uc010nlz.2_Splice_Site|PGK1_uc011mqq.1_Splice_Site_p.K63_splice	NM_000291	NP_000282			phosphoglycerate kinase 1						gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Splice_Site	SNP	77369512	77369512	12213	23	G	T	T	35	35	PGK1	T	5	2
CYLC1	1538	broad.mit.edu	37	X	83128462	83128462	+	Missense_Mutation	SNP	T	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:83128462T>C	uc004eei.1	+	4	767	c.746T>C	c.(745-747)ATG>ACG	p.M249T	CYLC1_uc004eeh.1_Missense_Mutation_p.M248T	NM_021118	NP_066941	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head	249					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			ovary(4)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	83128462	83128462	4306	23	T	C	C	51	51	CYLC1	C	4	4
GUCY2F	2986	broad.mit.edu	37	X	108718752	108718752	+	Silent	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108718752C>A	uc004eod.3	-	2	690	c.414G>T	c.(412-414)CTG>CTT	p.L138L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	138	Extracellular (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8																OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	108718752	108718752	7178	23	C	A	A	21	21	GUCY2F	A	2	2
CHRDL1	91851	broad.mit.edu	37	X	109924818	109924818	+	Missense_Mutation	SNP	G	C	C			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:109924818G>C	uc004eou.3	-	10	1397	c.1048C>G	c.(1048-1050)CCT>GCT	p.P350A	CHRDL1_uc004eov.2_Missense_Mutation_p.P339A|CHRDL1_uc004eow.2_Missense_Mutation_p.P348A|CHRDL1_uc010nps.2_Missense_Mutation_p.P349A|CHRDL1_uc004eot.2_Missense_Mutation_p.P269A|CHRDL1_uc011mss.1_Missense_Mutation_p.P264A	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	chordin-like 1 isoform 1 precursor	342					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region					0																		---	---	---	---	capture		Missense_Mutation	SNP	109924818	109924818	3507	23	G	C	C	42	42	CHRDL1	C	3	3
ALG13	79868	broad.mit.edu	37	X	110970619	110970619	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110970619C>A	uc011msy.1	+	17	2070	c.2036C>A	c.(2035-2037)CCA>CAA	p.P679Q	ALG13_uc011msx.1_Missense_Mutation_p.P575Q|ALG13_uc011msz.1_Missense_Mutation_p.P601Q|ALG13_uc011mta.1_Missense_Mutation_p.P575Q|ALG13_uc011mtb.1_Missense_Mutation_p.P575Q			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	679					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	110970619	110970619	518	23	C	A	A	21	21	ALG13	A	2	2
ODZ1	10178	broad.mit.edu	37	X	123539054	123539054	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123539054C>A	uc004euj.2	-	26	5261	c.5197G>T	c.(5197-5199)GGG>TGG	p.G1733W	ODZ1_uc011muj.1_Missense_Mutation_p.G1739W|ODZ1_uc010nqy.2_Missense_Mutation_p.G1740W	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1733	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		Missense_Mutation	SNP	123539054	123539054	11239	23	C	A	A	23	23	ODZ1	A	1	1
ARHGAP36	158763	broad.mit.edu	37	X	130218636	130218636	+	Missense_Mutation	SNP	C	A	A			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130218636C>A	uc004evz.2	+	6	1130	c.785C>A	c.(784-786)TCC>TAC	p.S262Y	ARHGAP36_uc004ewa.2_Missense_Mutation_p.S250Y|ARHGAP36_uc004ewb.2_Missense_Mutation_p.S231Y|ARHGAP36_uc004ewc.2_Missense_Mutation_p.S126Y	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	hypothetical protein LOC158763 precursor	262	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	130218636	130218636	895	23	C	A	A	30	30	ARHGAP36	A	2	2
IGSF1	3547	broad.mit.edu	37	X	130417031	130417031	+	Missense_Mutation	SNP	C	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:130417031C>T	uc004ewd.2	-	6	1113	c.875G>A	c.(874-876)GGA>GAA	p.G292E	IGSF1_uc004ewe.3_Missense_Mutation_p.G281E|IGSF1_uc004ewf.2_Missense_Mutation_p.G272E	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1 isoform 1	292	Ig-like C2-type 3.|Extracellular (Potential).				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			ovary(3)|lung(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	130417031	130417031	7897	23	C	T	T	30	30	IGSF1	T	2	2
F9	2158	broad.mit.edu	37	X	138623348	138623348	+	Missense_Mutation	SNP	G	T	T			TCGA-46-3767-01	TCGA-46-3767-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138623348G>T	uc004fas.1	+	4	420	c.391G>T	c.(391-393)GAT>TAT	p.D131Y	F9_uc004fat.1_Intron	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	131	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)													---	---	---	---	capture		Missense_Mutation	SNP	138623348	138623348	5548	23	G	T	T	35	35	F9	T	2	2
