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
ARID4B	51742	broad.mit.edu	37	1	235331905	235331906	+	Missense_Mutation	DNP	AC	GA	GA			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235331905_235331906AC>GA	uc001hwq.2	-	24	4371_4372	c.3873_3874GT>TC	c.(3871-3876)ATGTTA>ATTCTA	p.M1291I	ARID4B_uc001hwr.2_Missense_Mutation_p.M1205I|ARID4B_uc001hwp.2_RNA	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	1291	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)															---	---	---	---	capture		Missense_Mutation	DNP	235331905	235331906	935	1	AC	GA	GA	2	2	ARID4B	GA	4	4
TP53	7157	broad.mit.edu	37	17	7577092	7577093	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577092_7577093CC>GT	uc002gim.2	-	8	1039_1040	c.845_846GG>AC	c.(844-846)CGG>CAC	p.R282H	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150H|TP53_uc010cng.1_Missense_Mutation_p.R150H|TP53_uc002gii.1_Missense_Mutation_p.R150H|TP53_uc010cnh.1_Missense_Mutation_p.R282H|TP53_uc010cni.1_Missense_Mutation_p.R282H|TP53_uc002gij.2_Missense_Mutation_p.R282H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(365)|p.R282G(26)|p.R282Q(21)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.R283fs*63(2)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R283del(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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	DNP	7577092	7577093	16923	17	CC	GT	GT	26	26	TP53	GT	3	3
PPM1E	22843	broad.mit.edu	37	17	56833644	56833646	+	In_Frame_Del	DEL	GAG	-	-			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56833644_56833646delGAG	uc002iwx.2	+	1	413_415	c.286_288delGAG	c.(286-288)GAGdel	p.E100del	PPM1E_uc010ddd.2_5'UTR	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	100	Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(3)|lung(1)|skin(1)	5	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)															---	---	---	---	capture_indel		In_Frame_Del	DEL	56833644	56833646	12773	17	GAG	-	-	45	45	PPM1E	-	5	5
WDR8	49856	broad.mit.edu	37	1	3553570	3553570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3553570G>A	uc001ako.2	-	5	613	c.505C>T	c.(505-507)CAG>TAG	p.Q169*	WDR8_uc001akn.3_Nonsense_Mutation_p.Q169*|WDR8_uc010nzi.1_Nonsense_Mutation_p.Q169*	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	169						centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)														---	---	---	---	capture		Nonsense_Mutation	SNP	3553570	3553570	17902	1	G	A	A	46	46	WDR8	A	5	2
PLEKHM2	23207	broad.mit.edu	37	1	16054794	16054794	+	Silent	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16054794C>A	uc010obo.1	+	11	2090	c.1863C>A	c.(1861-1863)GGC>GGA	p.G621G		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M	621					Golgi organization	cytoplasm	kinesin binding			ovary(1)	1		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)														---	---	---	---	capture		Silent	SNP	16054794	16054794	12507	1	C	A	A	25	25	PLEKHM2	A	2	2
USP48	84196	broad.mit.edu	37	1	22063027	22063027	+	Silent	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22063027T>C	uc001bfb.2	-	9	1321	c.1083A>G	c.(1081-1083)CCA>CCG	p.P361P	USP48_uc010odq.1_Silent_p.P361P|USP48_uc009vqc.2_Silent_p.P361P|USP48_uc001bfc.2_Silent_p.P361P|USP48_uc001bfe.1_Silent_p.P361P|USP48_uc001bff.2_Silent_p.P361P	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	361					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)														---	---	---	---	capture		Silent	SNP	22063027	22063027	17643	1	T	C	C	59	59	USP48	C	4	4
S100PBP	64766	broad.mit.edu	37	1	33321622	33321622	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33321622G>T	uc001bvz.2	+	7	1487	c.1210G>T	c.(1210-1212)GAC>TAC	p.D404Y	S100PBP_uc001bwc.2_Missense_Mutation_p.D404Y|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	404						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---	capture		Missense_Mutation	SNP	33321622	33321622	14271	1	G	T	T	33	33	S100PBP	T	2	2
GRIK3	2899	broad.mit.edu	37	1	37307519	37307519	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:37307519G>A	uc001caz.2	-	10	1483	c.1348C>T	c.(1348-1350)CGG>TGG	p.R450W	GRIK3_uc001cba.1_Missense_Mutation_p.R450W	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	450	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	37307519	37307519	7054	1	G	A	A	37	37	GRIK3	A	1	1
DOCK7	85440	broad.mit.edu	37	1	62973692	62973692	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62973692C>T	uc001daq.2	-	35	4424	c.4390G>A	c.(4390-4392)GGA>AGA	p.G1464R	DOCK7_uc001dan.2_Missense_Mutation_p.G1325R|DOCK7_uc001dao.2_Missense_Mutation_p.G1325R|DOCK7_uc001dap.2_Missense_Mutation_p.G1442R|DOCK7_uc001dam.2_Missense_Mutation_p.G644R|DOCK7_uc010oov.1_Missense_Mutation_p.G203R	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1473					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	62973692	62973692	4876	1	C	T	T	21	21	DOCK7	T	2	2
LEPR	3953	broad.mit.edu	37	1	66102541	66102541	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66102541G>A	uc001dci.2	+	20	3543	c.3341G>A	c.(3340-3342)AGA>AAA	p.R1114K	LEPR_uc009waq.2_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	1114	Cytoplasmic (Potential).				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---	capture		Missense_Mutation	SNP	66102541	66102541	9052	1	G	A	A	33	33	LEPR	A	2	2
PDE4B	5142	broad.mit.edu	37	1	66713282	66713282	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66713282G>T	uc001dcn.2	+	4	612	c.421G>T	c.(421-423)GAC>TAC	p.D141Y	PDE4B_uc009war.2_Missense_Mutation_p.D49Y|PDE4B_uc001dco.2_Missense_Mutation_p.D141Y|PDE4B_uc001dcp.2_Missense_Mutation_p.D126Y	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	141					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)													---	---	---	---	capture		Missense_Mutation	SNP	66713282	66713282	12061	1	G	T	T	37	37	PDE4B	T	1	1
DIRAS3	9077	broad.mit.edu	37	1	68512321	68512321	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68512321C>T	uc001ded.2	-	2	955	c.660G>A	c.(658-660)GAG>GAA	p.E220E	uc001deb.1_Intron|uc001dec.1_Intron	NM_004675	NP_004666	O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	220					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	68512321	68512321	4711	1	C	T	T	32	32	DIRAS3	T	2	2
LRRC7	57554	broad.mit.edu	37	1	70503937	70503937	+	Silent	SNP	G	C	C	rs12567778	byFrequency;by1000genomes	TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70503937G>C	uc001dep.2	+	19	2346	c.2316G>C	c.(2314-2316)TCG>TCC	p.S772S	LRRC7_uc009wbg.2_Silent_p.S56S|LRRC7_uc001deq.2_Silent_p.S13S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	772						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---	capture		Silent	SNP	70503937	70503937	9396	1	G	C	C	38	38	LRRC7	C	3	3
FPGT	8790	broad.mit.edu	37	1	74670749	74670749	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74670749C>T	uc001dgb.1	+	4	1055	c.1018C>T	c.(1018-1020)CTT>TTT	p.L340F	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	340					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74670749	74670749	6283	1	C	T	T	32	32	FPGT	T	2	2
COL11A1	1301	broad.mit.edu	37	1	103470046	103470046	+	Splice_Site	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:103470046T>C	uc001dul.2	-	20	2218	c.1900_splice	c.e20-1	p.G634_splice	COL11A1_uc001duk.2_Splice_Site|COL11A1_uc001dum.2_Splice_Site_p.G646_splice|COL11A1_uc001dun.2_Splice_Site_p.G595_splice|COL11A1_uc009weh.2_Splice_Site_p.G518_splice	NM_001854	NP_001845			alpha 1 type XI collagen isoform A						collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)														---	---	---	---	capture		Splice_Site	SNP	103470046	103470046	3805	1	T	C	C	55	55	COL11A1	C	5	4
PIP5K1A	8394	broad.mit.edu	37	1	151204201	151204201	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151204201G>T	uc001exj.2	+	5	744	c.292G>T	c.(292-294)GGG>TGG	p.G98W	PIP5K1A_uc001exi.2_Missense_Mutation_p.G85W|PIP5K1A_uc010pcu.1_Missense_Mutation_p.G86W|PIP5K1A_uc001exk.2_Missense_Mutation_p.G85W|PIP5K1A_uc010pcv.1_5'Flank	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	98	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151204201	151204201	12363	1	G	T	T	43	43	PIP5K1A	T	2	2
FLG	2312	broad.mit.edu	37	1	152282314	152282314	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152282314G>A	uc001ezu.1	-	3	5084	c.5048C>T	c.(5047-5049)TCC>TTC	p.S1683F		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1683	Ser-rich.|Filaggrin 10.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture		Missense_Mutation	SNP	152282314	152282314	6160	1	G	A	A	41	41	FLG	A	2	2
GPR161	23432	broad.mit.edu	37	1	168065986	168065986	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:168065986T>C	uc001gfc.2	-	5	1173	c.859A>G	c.(859-861)ATG>GTG	p.M287V	GPR161_uc001gfb.2_Missense_Mutation_p.M155V|GPR161_uc010pll.1_Missense_Mutation_p.M197V|GPR161_uc010plm.1_Missense_Mutation_p.M173V|GPR161_uc009wvo.2_Missense_Mutation_p.M304V|GPR161_uc001gfd.2_Missense_Mutation_p.M287V|GPR161_uc010pln.1_Missense_Mutation_p.M307V|GPR161_uc001gfe.1_Missense_Mutation_p.M287V	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161 isoform 2	287	Helical; Name=6; (Potential).				multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity				0	all_hematologic(923;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	168065986	168065986	6940	1	T	C	C	51	51	GPR161	C	4	4
RYR2	6262	broad.mit.edu	37	1	237758806	237758806	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237758806G>C	uc001hyl.1	+	34	4565	c.4445G>C	c.(4444-4446)CGC>CCC	p.R1482P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1482	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	237758806	237758806	14249	1	G	C	C	38	38	RYR2	C	3	3
RYR2	6262	broad.mit.edu	37	1	237774129	237774129	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237774129C>T	uc001hyl.1	+	36	4871	c.4751C>T	c.(4750-4752)CCG>CTG	p.P1584L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1584	Cytoplasmic (By similarity).|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	237774129	237774129	14249	1	C	T	T	23	23	RYR2	T	1	1
CNST	163882	broad.mit.edu	37	1	246829021	246829021	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246829021C>T	uc001ibp.2	+	11	2370	c.1992C>T	c.(1990-1992)TCC>TCT	p.S664S		NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	664					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0																		---	---	---	---	capture		Silent	SNP	246829021	246829021	3772	1	C	T	T	24	24	CNST	T	2	2
AHCTF1	25909	broad.mit.edu	37	1	247025278	247025278	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247025278G>A	uc001ibu.1	-	27	3725	c.3718C>T	c.(3718-3720)CCA>TCA	p.P1240S	AHCTF1_uc001ibv.1_Missense_Mutation_p.P1249S|AHCTF1_uc009xgs.1_Missense_Mutation_p.P101S|AHCTF1_uc001ibw.1_RNA	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	transcription factor ELYS	1240	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---	capture		Missense_Mutation	SNP	247025278	247025278	411	1	G	A	A	43	43	AHCTF1	A	2	2
OR2L3	391192	broad.mit.edu	37	1	248224555	248224555	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248224555C>A	uc001idx.1	+	1	572	c.572C>A	c.(571-573)ACC>AAC	p.T191N	OR2L13_uc001ids.2_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L,	191	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)															---	---	---	---	capture		Missense_Mutation	SNP	248224555	248224555	11414	1	C	A	A	18	18	OR2L3	A	2	2
UPF2	26019	broad.mit.edu	37	10	11997500	11997500	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11997500G>C	uc001ila.2	-	13	3055	c.2581C>G	c.(2581-2583)CAA>GAA	p.Q861E	UPF2_uc001ilb.2_Missense_Mutation_p.Q861E|UPF2_uc001ilc.2_Missense_Mutation_p.Q861E|UPF2_uc009xiz.1_Missense_Mutation_p.Q861E	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	861	Sufficient for interaction with UPF3A and UPF3B.|MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)																---	---	---	---	capture		Missense_Mutation	SNP	11997500	11997500	17564	10	G	C	C	45	45	UPF2	C	3	3
C1QL3	389941	broad.mit.edu	37	10	16562655	16562655	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16562655T>A	uc001ioj.1	-	1	1350	c.410A>T	c.(409-411)CAT>CTT	p.H137L		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	137	C1q.					collagen				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	16562655	16562655	2027	10	T	A	A	51	51	C1QL3	A	4	4
MRC1	4360	broad.mit.edu	37	10	18112280	18112280	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18112280T>C	uc001ipm.2	+	2	401	c.298T>C	c.(298-300)TGG>CGG	p.W100R		NM_002438	NP_002429	P22897	MRC1_HUMAN	mannose receptor C type 1 precursor	100	Extracellular (Potential).|Ricin B-type lectin.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	18112280	18112280	10148	10	T	C	C	51	51	MRC1	C	4	4
ART1	417	broad.mit.edu	37	11	3680845	3680845	+	Silent	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:3680845C>G	uc001lye.1	+	3	197	c.96C>G	c.(94-96)CTC>CTG	p.L32L	ART1_uc009yeb.1_Silent_p.L32L	NM_004314	NP_004305	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1 precursor	32					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity				0		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)													---	---	---	---	capture		Silent	SNP	3680845	3680845	1015	11	C	G	G	32	32	ART1	G	3	3
OR52R1	119695	broad.mit.edu	37	11	4825066	4825066	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4825066C>A	uc010qym.1	-	1	782	c.782G>T	c.(781-783)TGT>TTT	p.C261F		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R,	182	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4825066	4825066	11541	11	C	A	A	17	17	OR52R1	A	2	2
OR52N2	390077	broad.mit.edu	37	11	5842072	5842072	+	Silent	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5842072C>A	uc010qzp.1	+	1	507	c.507C>A	c.(505-507)CCC>CCA	p.P169P	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	5842072	5842072	11538	11	C	A	A	24	24	OR52N2	A	2	2
TRIM3	10612	broad.mit.edu	37	11	6471848	6471848	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6471848G>A	uc001mdh.2	-	11	2261	c.1874C>T	c.(1873-1875)CCC>CTC	p.P625L	TRIM3_uc001mdi.2_Missense_Mutation_p.P625L|TRIM3_uc010raj.1_Missense_Mutation_p.P506L|TRIM3_uc009yfd.2_Missense_Mutation_p.P625L|TRIM3_uc010rak.1_Missense_Mutation_p.P625L	NM_006458	NP_006449	O75382	TRIM3_HUMAN	tripartite motif-containing 3	625	NHL 4.				nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1)	5		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6471848	6471848	17048	11	G	A	A	43	43	TRIM3	A	2	2
WEE1	7465	broad.mit.edu	37	11	9608356	9608356	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9608356A>T	uc001mhs.2	+	10	1993	c.1740A>T	c.(1738-1740)TTA>TTT	p.L580F	WEE1_uc001mht.2_Missense_Mutation_p.L366F	NM_003390	NP_003381	P30291	WEE1_HUMAN	WEE1 tyrosine kinase isoform 1	580					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	9608356	9608356	17918	11	A	T	T	14	14	WEE1	T	4	4
COPB1	1315	broad.mit.edu	37	11	14490962	14490962	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14490962C>T	uc001mli.2	-	15	2192	c.1885G>A	c.(1885-1887)GAC>AAC	p.D629N	COPB1_uc001mlg.2_Missense_Mutation_p.D629N|COPB1_uc001mlh.2_Missense_Mutation_p.D629N	NM_016451	NP_057535	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	629					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	14490962	14490962	3866	11	C	T	T	29	29	COPB1	T	2	2
LGR4	55366	broad.mit.edu	37	11	27390143	27390143	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27390143C>T	uc001mrj.3	-	18	2612	c.2127G>A	c.(2125-2127)ACG>ACA	p.T709T	LGR4_uc001mrk.3_Silent_p.T685T	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	leucine-rich repeat-containing G protein-coupled	709	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	protein-hormone receptor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	27390143	27390143	9082	11	C	T	T	19	19	LGR4	T	1	1
OR4C3	256144	broad.mit.edu	37	11	48346985	48346985	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48346985C>G	uc010rhv.1	+	1	493	c.493C>G	c.(493-495)CTC>GTC	p.L165V		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	138	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	48346985	48346985	11456	11	C	G	G	32	32	OR4C3	G	3	3
OR4C46	119749	broad.mit.edu	37	11	51515731	51515731	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51515731C>T	uc010ric.1	+	1	450	c.450C>T	c.(448-450)GGC>GGT	p.G150G		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	150	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	51515731	51515731	11458	11	C	T	T	28	28	OR4C46	T	2	2
OR4C16	219428	broad.mit.edu	37	11	55340086	55340086	+	Silent	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55340086C>A	uc010rih.1	+	1	483	c.483C>A	c.(481-483)GCC>GCA	p.A161A		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C,	161	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		all_epithelial(135;0.0748)																---	---	---	---	capture		Silent	SNP	55340086	55340086	11455	11	C	A	A	22	22	OR4C16	A	2	2
OR5D18	219438	broad.mit.edu	37	11	55587702	55587702	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55587702G>T	uc010rin.1	+	1	597	c.597G>T	c.(595-597)CTG>CTT	p.L199L		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D,	199	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.208)																---	---	---	---	capture		Silent	SNP	55587702	55587702	11567	11	G	T	T	46	46	OR5D18	T	2	2
OR8H3	390152	broad.mit.edu	37	11	55890545	55890545	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890545G>A	uc001nii.1	+	1	697	c.697G>A	c.(697-699)GGA>AGA	p.G233R		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	233	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Missense_Mutation	SNP	55890545	55890545	11650	11	G	A	A	35	35	OR8H3	A	2	2
OR5B2	390190	broad.mit.edu	37	11	58190360	58190360	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58190360G>A	uc010rkg.1	-	1	375	c.375C>T	c.(373-375)TGC>TGT	p.C125C		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B,	125	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)																---	---	---	---	capture		Silent	SNP	58190360	58190360	11560	11	G	A	A	46	46	OR5B2	A	2	2
MS4A14	84689	broad.mit.edu	37	11	60183423	60183423	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60183423G>A	uc001npj.2	+	5	1547	c.982G>A	c.(982-984)GAA>AAA	p.E328K	MS4A14_uc001npi.2_Missense_Mutation_p.E216K|MS4A14_uc001npn.2_Missense_Mutation_p.E66K|MS4A14_uc001npk.2_Missense_Mutation_p.E311K|MS4A14_uc001npl.2_Missense_Mutation_p.E66K|MS4A14_uc001npm.2_Missense_Mutation_p.E66K	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	328						integral to membrane	receptor activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	60183423	60183423	10251	11	G	A	A	33	33	MS4A14	A	2	2
EML3	256364	broad.mit.edu	37	11	62372589	62372589	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62372589C>A	uc001ntu.1	-	16	2286	c.1978G>T	c.(1978-1980)GGG>TGG	p.G660W	EML3_uc001ntr.1_Missense_Mutation_p.G632W|EML3_uc001nts.1_Missense_Mutation_p.G632W|EML3_uc001ntt.1_Missense_Mutation_p.G544W|EML3_uc010rly.1_Missense_Mutation_p.G660W	NM_153265	NP_694997	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like	660						cytoplasm|microtubule	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	62372589	62372589	5290	11	C	A	A	22	22	EML3	A	2	2
CCDC87	55231	broad.mit.edu	37	11	66359641	66359641	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66359641C>A	uc001oiq.3	-	1	914	c.846G>T	c.(844-846)CAG>CAT	p.Q282H	CCS_uc001oir.2_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	282										ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	66359641	66359641	2987	11	C	A	A	32	32	CCDC87	A	2	2
SPTBN2	6712	broad.mit.edu	37	11	66460763	66460763	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66460763C>T	uc001ojd.2	-	23	4820	c.4748G>A	c.(4747-4749)CGA>CAA	p.R1583Q		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1583	Spectrin 12.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	66460763	66460763	15634	11	C	T	T	31	31	SPTBN2	T	1	1
SHANK2	22941	broad.mit.edu	37	11	70332901	70332901	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70332901G>T	uc001oqc.2	-	21	3575	c.3497C>A	c.(3496-3498)CCG>CAG	p.P1166Q	SHANK2_uc010rqn.1_Missense_Mutation_p.P578Q|SHANK2_uc001opz.2_Missense_Mutation_p.P571Q|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	787					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)															---	---	---	---	capture		Missense_Mutation	SNP	70332901	70332901	14757	11	G	T	T	39	39	SHANK2	T	1	1
LRRC32	2615	broad.mit.edu	37	11	76372514	76372514	+	Silent	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76372514G>C	uc001oxq.3	-	3	366	c.123C>G	c.(121-123)CTC>CTG	p.L41L	LRRC32_uc001oxr.3_Silent_p.L41L|LRRC32_uc010rsf.1_Silent_p.L41L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	leucine rich repeat containing 32 precursor	41	Extracellular (Potential).					integral to plasma membrane					0																		---	---	---	---	capture		Silent	SNP	76372514	76372514	9362	11	G	C	C	41	41	LRRC32	C	3	3
CCDC81	60494	broad.mit.edu	37	11	86125862	86125862	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86125862G>C	uc001pbx.1	+	12	1851	c.1423G>C	c.(1423-1425)GAT>CAT	p.D475H	CCDC81_uc001pbw.1_Missense_Mutation_p.D385H|CCDC81_uc010rtq.1_Missense_Mutation_p.D258H|CCDC81_uc001pby.1_Missense_Mutation_p.D210H	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81 isoform 1	475	Potential.									skin(1)	1		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)																---	---	---	---	capture		Missense_Mutation	SNP	86125862	86125862	2979	11	G	C	C	33	33	CCDC81	C	3	3
OR8B4	283162	broad.mit.edu	37	11	124294666	124294666	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124294666G>T	uc010sak.1	-	1	102	c.102C>A	c.(100-102)ATC>ATA	p.I34I		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---	capture		Silent	SNP	124294666	124294666	11640	11	G	T	T	33	33	OR8B4	T	2	2
CACNA1C	775	broad.mit.edu	37	12	2602441	2602441	+	Silent	SNP	C	T	T	rs112002520		TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2602441C>T	uc009zdu.1	+	7	1315	c.1002C>T	c.(1000-1002)CCC>CCT	p.P334P	CACNA1C_uc009zdv.1_Silent_p.P331P|CACNA1C_uc001qkb.2_Silent_p.P334P|CACNA1C_uc001qkc.2_Silent_p.P334P|CACNA1C_uc001qke.2_Silent_p.P334P|CACNA1C_uc001qkf.2_Silent_p.P334P|CACNA1C_uc001qjz.2_Silent_p.P334P|CACNA1C_uc001qkd.2_Silent_p.P334P|CACNA1C_uc001qkg.2_Silent_p.P334P|CACNA1C_uc009zdw.1_Silent_p.P334P|CACNA1C_uc001qkh.2_Silent_p.P334P|CACNA1C_uc001qkl.2_Silent_p.P334P|CACNA1C_uc001qkn.2_Silent_p.P334P|CACNA1C_uc001qko.2_Silent_p.P334P|CACNA1C_uc001qkp.2_Silent_p.P334P|CACNA1C_uc001qkr.2_Silent_p.P334P|CACNA1C_uc001qku.2_Silent_p.P334P|CACNA1C_uc001qkq.2_Silent_p.P334P|CACNA1C_uc001qks.2_Silent_p.P334P|CACNA1C_uc001qkt.2_Silent_p.P334P|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.P70P|CACNA1C_uc001qkj.1_Silent_p.P70P|CACNA1C_uc001qkk.1_Silent_p.P70P|CACNA1C_uc001qkm.1_Silent_p.P70P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type,	334	I.|Extracellular (Potential).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			ovary(10)|central_nervous_system(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)													---	---	---	---	capture		Silent	SNP	2602441	2602441	2656	12	C	T	T	23	23	CACNA1C	T	1	1
KIAA0528	9847	broad.mit.edu	37	12	22623791	22623791	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22623791T>A	uc001rfq.2	-	21	2641	c.2413A>T	c.(2413-2415)ACA>TCA	p.T805S	KIAA0528_uc010sir.1_Missense_Mutation_p.T620S|KIAA0528_uc010sis.1_Missense_Mutation_p.T805S|KIAA0528_uc010sit.1_Missense_Mutation_p.T807S|KIAA0528_uc010siu.1_Missense_Mutation_p.T805S|KIAA0528_uc001rfr.2_Missense_Mutation_p.T796S	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	805							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	22623791	22623791	8489	12	T	A	A	59	59	KIAA0528	A	4	4
ABCD2	225	broad.mit.edu	37	12	40013001	40013001	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40013001C>A	uc001rmb.2	-	1	843	c.417G>T	c.(415-417)AAG>AAT	p.K139N		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D, member 2	139	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	40013001	40013001	62	12	C	A	A	28	28	ABCD2	A	2	2
AMHR2	269	broad.mit.edu	37	12	53819613	53819613	+	Silent	SNP	C	T	T	rs115267458	by1000genomes	TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53819613C>T	uc001scx.1	+	6	840	c.762C>T	c.(760-762)CAC>CAT	p.H254H	AMHR2_uc009zmy.1_Silent_p.H254H	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II isoform	254	Cytoplasmic (Potential).|Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			ovary(1)|skin(1)	2					Adenosine triphosphate(DB00171)									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)				---	---	---	---	capture		Silent	SNP	53819613	53819613	576	12	C	T	T	19	19	AMHR2	T	1	1
SHMT2	6472	broad.mit.edu	37	12	57626301	57626301	+	Silent	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57626301C>G	uc001snf.1	+	6	670	c.660C>G	c.(658-660)CTC>CTG	p.L220L	SHMT2_uc001sng.1_Silent_p.L116L|SHMT2_uc001snh.1_Silent_p.L59L|SHMT2_uc009zpk.1_Silent_p.L210L|SHMT2_uc001sni.1_Silent_p.L199L|SHMT2_uc010srg.1_Silent_p.L229L|SHMT2_uc001snj.1_Silent_p.L124L|SHMT2_uc010srh.1_Silent_p.L199L|SHMT2_uc001snk.1_Silent_p.L124L|SHMT2_uc010sri.1_Silent_p.L199L|SHMT2_uc001snl.2_Silent_p.L124L|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2	220						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---	capture		Silent	SNP	57626301	57626301	14781	12	C	G	G	29	29	SHMT2	G	3	3
AGAP2	116986	broad.mit.edu	37	12	58135755	58135755	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58135755C>G	uc001spr.2	-	1	186	c.100G>C	c.(100-102)GAG>CAG	p.E34Q		NM_014770	NP_055585	Q99490	AGAP2_HUMAN	centaurin, gamma 1 isoform PIKE-S	Error:Variant_position_missing_in_Q99490_after_alignment					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			central_nervous_system(3)|breast(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	58135755	58135755	370	12	C	G	G	32	32	AGAP2	G	3	3
HELB	92797	broad.mit.edu	37	12	66700160	66700160	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:66700160C>T	uc001sti.2	+	3	671	c.643C>T	c.(643-645)CCG>TCG	p.P215S	HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	helicase (DNA) B	215					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			central_nervous_system(1)|pancreas(1)	2			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)														---	---	---	---	capture		Missense_Mutation	SNP	66700160	66700160	7328	12	C	T	T	30	30	HELB	T	2	2
PPFIA2	8499	broad.mit.edu	37	12	82147871	82147871	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:82147871G>T	uc001szo.1	-	3	291	c.130C>A	c.(130-132)CGT>AGT	p.R44S	PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	PTPRF interacting protein alpha 2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	82147871	82147871	12740	12	G	T	T	37	37	PPFIA2	T	1	1
SOCS2	8835	broad.mit.edu	37	12	93968716	93968716	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:93968716G>C	uc001tcw.1	+	3	948	c.358G>C	c.(358-360)GAC>CAC	p.D120H	SOCS2_uc001tcx.1_Missense_Mutation_p.D120H|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.D120H|SOCS2_uc001tcz.2_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	suppressor of cytokine signaling-2	120	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	93968716	93968716	15414	12	G	C	C	45	45	SOCS2	C	3	3
C12orf63	374467	broad.mit.edu	37	12	97087548	97087548	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97087548C>T	uc001tet.1	+	12	1666	c.1588C>T	c.(1588-1590)CAA>TAA	p.Q530*		NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN	hypothetical protein LOC374467	530										skin(6)|ovary(1)	7																		---	---	---	---	capture		Nonsense_Mutation	SNP	97087548	97087548	1750	12	C	T	T	29	29	C12orf63	T	5	2
ANKS1B	56899	broad.mit.edu	37	12	99478771	99478771	+	Silent	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:99478771A>G	uc001tge.1	-	16	2974	c.2557T>C	c.(2557-2559)TTG>CTG	p.L853L	ANKS1B_uc001tgf.1_Silent_p.L429L|ANKS1B_uc001tgk.2_Silent_p.L150L|ANKS1B_uc001tgd.1_Silent_p.L79L|ANKS1B_uc001tgi.2_Silent_p.L79L|ANKS1B_uc009ztr.2_Silent_p.L79L|ANKS1B_uc001tgj.2_Silent_p.L79L|ANKS1B_uc001tgg.3_Silent_p.L22L|ANKS1B_uc010svg.1_Silent_p.L48L|ANKS1B_uc009zts.1_Silent_p.L79L|ANKS1B_uc001tgm.1_Silent_p.L79L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	853	SAM 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)														---	---	---	---	capture		Silent	SNP	99478771	99478771	697	12	A	G	G	2	2	ANKS1B	G	4	4
C12orf51	283450	broad.mit.edu	37	12	112632695	112632695	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112632695G>A	uc009zwc.2	-	49	7495	c.7477C>T	c.(7477-7479)CTC>TTC	p.L2493F		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	112632695	112632695	1740	12	G	A	A	33	33	C12orf51	A	2	2
C12orf51	283450	broad.mit.edu	37	12	112632708	112632708	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112632708G>A	uc009zwc.2	-	49	7482	c.7464C>T	c.(7462-7464)CTC>CTT	p.L2488L		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2																		---	---	---	---	capture		Silent	SNP	112632708	112632708	1740	12	G	A	A	41	41	C12orf51	A	2	2
NOS1	4842	broad.mit.edu	37	12	117665253	117665253	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117665253A>C	uc001twm.1	-	23	4285	c.3599T>G	c.(3598-3600)GTT>GGT	p.V1200G		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	1200	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)													---	---	---	---	capture		Missense_Mutation	SNP	117665253	117665253	10944	12	A	C	C	2	2	NOS1	C	4	4
PIWIL1	9271	broad.mit.edu	37	12	130839091	130839091	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130839091C>A	uc001uik.2	+	10	1144	c.1054C>A	c.(1054-1056)CAA>AAA	p.Q352K	PIWIL1_uc001uij.1_Missense_Mutation_p.Q352K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	piwi-like 1	352	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)														---	---	---	---	capture		Missense_Mutation	SNP	130839091	130839091	12381	12	C	A	A	21	21	PIWIL1	A	2	2
RIMBP2	23504	broad.mit.edu	37	12	130935867	130935867	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130935867C>T	uc001uil.2	-	5	490	c.326G>A	c.(325-327)GGA>GAA	p.G109E	RIMBP2_uc001uim.2_Missense_Mutation_p.G17E	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	109						cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---	capture		Missense_Mutation	SNP	130935867	130935867	13838	12	C	T	T	30	30	RIMBP2	T	2	2
MTRF1	9617	broad.mit.edu	37	13	41828703	41828703	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41828703G>T	uc001uxx.2	-	5	939	c.469C>A	c.(469-471)CAA>AAA	p.Q157K	MTRF1_uc001uxy.2_Missense_Mutation_p.Q157K|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Missense_Mutation_p.Q170K|MTRF1_uc001uyc.1_Missense_Mutation_p.Q157K	NM_004294	NP_004285	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	157					regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	41828703	41828703	10352	13	G	T	T	46	46	MTRF1	T	2	2
TSC22D1	8848	broad.mit.edu	37	13	45147368	45147368	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45147368G>T	uc001uzn.3	-	1	3334	c.2843C>A	c.(2842-2844)GCC>GAC	p.A948D	TSC22D1_uc001uzo.1_Intron	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	948					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)														---	---	---	---	capture		Missense_Mutation	SNP	45147368	45147368	17158	13	G	T	T	42	42	TSC22D1	T	2	2
LRCH1	23143	broad.mit.edu	37	13	47275295	47275295	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47275295G>C	uc001vbj.2	+	11	1589	c.1353G>C	c.(1351-1353)ATG>ATC	p.M451I	LRCH1_uc010acp.2_Missense_Mutation_p.M451I|LRCH1_uc001vbk.2_Missense_Mutation_p.M451I|LRCH1_uc001vbl.3_Missense_Mutation_p.M451I	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH)	451										ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)														---	---	---	---	capture		Missense_Mutation	SNP	47275295	47275295	9305	13	G	C	C	45	45	LRCH1	C	3	3
KCNRG	283518	broad.mit.edu	37	13	50590025	50590025	+	Silent	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50590025A>G	uc001vdu.2	+	1	636	c.396A>G	c.(394-396)ACA>ACG	p.T132T	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.2_Silent_p.T132T|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	potassium channel regulator isoform 1	132						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity				0		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)														---	---	---	---	capture		Silent	SNP	50590025	50590025	8392	13	A	G	G	5	5	KCNRG	G	4	4
RNASEH2B	79621	broad.mit.edu	37	13	51501612	51501612	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:51501612C>T	uc001vfa.3	+	2	455	c.134C>T	c.(133-135)TCA>TTA	p.S45L	RNASEH2B_uc001vfb.3_Missense_Mutation_p.S45L	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B isoform 1	45					RNA catabolic process	nucleus|ribonuclease H2 complex					0		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)														---	---	---	---	capture		Missense_Mutation	SNP	51501612	51501612	13890	13	C	T	T	29	29	RNASEH2B	T	2	2
TDRD3	81550	broad.mit.edu	37	13	61041500	61041500	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61041500G>T	uc001via.2	+	5	991	c.203G>T	c.(202-204)TGG>TTG	p.W68L	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001vhz.3_Missense_Mutation_p.W68L|TDRD3_uc010aeg.2_Missense_Mutation_p.W161L|TDRD3_uc001vib.3_Missense_Mutation_p.W68L	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3 isoform 2	68					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			upper_aerodigestive_tract(1)|skin(1)	2		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)														---	---	---	---	capture		Missense_Mutation	SNP	61041500	61041500	16259	13	G	T	T	47	47	TDRD3	T	2	2
KLHL1	57626	broad.mit.edu	37	13	70456529	70456529	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:70456529A>T	uc001vip.2	-	5	1907	c.1113T>A	c.(1111-1113)GAT>GAA	p.D371E	KLHL1_uc010thm.1_Missense_Mutation_p.D310E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	371					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)														---	---	---	---	capture		Missense_Mutation	SNP	70456529	70456529	8677	13	A	T	T	8	8	KLHL1	T	4	4
TBC1D4	9882	broad.mit.edu	37	13	75936518	75936518	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75936518C>T	uc001vjl.1	-	2	1071	c.724G>A	c.(724-726)GAG>AAG	p.E242K	TBC1D4_uc010aer.2_Missense_Mutation_p.E242K|TBC1D4_uc010aes.2_Missense_Mutation_p.E242K	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	242						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---	capture		Missense_Mutation	SNP	75936518	75936518	16148	13	C	T	T	30	30	TBC1D4	T	2	2
NALCN	259232	broad.mit.edu	37	13	101763536	101763536	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101763536C>T	uc001vox.1	-	19	2423	c.2234G>A	c.(2233-2235)GGG>GAG	p.G745E		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	745	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	101763536	101763536	10544	13	C	T	T	22	22	NALCN	T	2	2
OR4K15	81127	broad.mit.edu	37	14	20443959	20443959	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20443959C>T	uc010tkx.1	+	1	282	c.282C>T	c.(280-282)GAC>GAT	p.D94D		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K,	94	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Silent	SNP	20443959	20443959	11480	14	C	T	T	19	19	OR4K15	T	1	1
OR4K13	390433	broad.mit.edu	37	14	20502611	20502611	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20502611A>T	uc010tkz.1	-	1	307	c.307T>A	c.(307-309)TTT>ATT	p.F103I		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)														---	---	---	---	capture		Missense_Mutation	SNP	20502611	20502611	11478	14	A	T	T	3	3	OR4K13	T	4	4
FANCM	57697	broad.mit.edu	37	14	45668130	45668130	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45668130G>T	uc001wwd.3	+	22	6099	c.6000G>T	c.(5998-6000)ATG>ATT	p.M2000I	FANCM_uc010anf.2_Missense_Mutation_p.M1974I|FANCM_uc001wwe.3_Missense_Mutation_p.M1536I|FANCM_uc010ang.2_Missense_Mutation_p.M1249I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	2000	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	45668130	45668130	5907	14	G	T	T	47	47	FANCM	T	2	2
RPL10L	140801	broad.mit.edu	37	14	47120363	47120363	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47120363C>T	uc001wwg.2	-	1	666	c.577G>A	c.(577-579)GAT>AAT	p.D193N		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	ribosomal protein L10-like protein	193					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	47120363	47120363	14035	14	C	T	T	29	29	RPL10L	T	2	2
PELI2	57161	broad.mit.edu	37	14	56757088	56757088	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:56757088C>A	uc001xch.2	+	5	896	c.610C>A	c.(610-612)CAG>AAG	p.Q204K		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	pellino 2	204					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	56757088	56757088	12143	14	C	A	A	21	21	PELI2	A	2	2
C14orf159	80017	broad.mit.edu	37	14	91647557	91647557	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91647557C>A	uc001xzb.2	+	10	1511	c.743C>A	c.(742-744)CCA>CAA	p.P248Q	C14orf159_uc010atv.1_RNA|C14orf159_uc001xyy.2_Missense_Mutation_p.P253Q|C14orf159_uc001xyx.2_Missense_Mutation_p.P236Q|C14orf159_uc001xyw.2_Missense_Mutation_p.P253Q|C14orf159_uc001xzc.2_Missense_Mutation_p.P248Q|C14orf159_uc001xza.2_Missense_Mutation_p.P253Q|C14orf159_uc001xyv.2_Missense_Mutation_p.P253Q|C14orf159_uc001xyz.2_Missense_Mutation_p.P124Q|C14orf159_uc001xze.2_Missense_Mutation_p.P248Q	NM_001102366	NP_001095836	Q7Z3D6	CN159_HUMAN	hypothetical protein LOC80017 isoform a	248						mitochondrion				central_nervous_system(2)|ovary(1)	3		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)														---	---	---	---	capture		Missense_Mutation	SNP	91647557	91647557	1803	14	C	A	A	21	21	C14orf159	A	2	2
DYNC1H1	1778	broad.mit.edu	37	14	102460520	102460520	+	Splice_Site	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102460520G>C	uc001yks.2	+	12	3180	c.3016_splice	c.e12-1	p.V1006_splice		NM_001376	NP_001367			cytoplasmic dynein 1 heavy chain 1						cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---	capture		Splice_Site	SNP	102460520	102460520	5027	14	G	C	C	35	35	DYNC1H1	C	5	3
DYNC1H1	1778	broad.mit.edu	37	14	102460647	102460647	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102460647G>C	uc001yks.2	+	12	3306	c.3142G>C	c.(3142-3144)GAA>CAA	p.E1048Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	1048	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	102460647	102460647	5027	14	G	C	C	45	45	DYNC1H1	C	3	3
NDN	4692	broad.mit.edu	37	15	23931855	23931855	+	Silent	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931855C>G	uc001ywk.2	-	1	596	c.510G>C	c.(508-510)GCG>GCC	p.A170A		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	170	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)										Prader-Willi_syndrome				---	---	---	---	capture		Silent	SNP	23931855	23931855	10646	15	C	G	G	27	27	NDN	G	3	3
RNF111	54778	broad.mit.edu	37	15	59323210	59323210	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59323210A>C	uc002afv.2	+	2	468	c.189A>C	c.(187-189)GAA>GAC	p.E63D	RNF111_uc002afs.2_Missense_Mutation_p.E63D|RNF111_uc002aft.2_Missense_Mutation_p.E63D|RNF111_uc002afu.2_Missense_Mutation_p.E63D|RNF111_uc002afw.2_Missense_Mutation_p.E63D	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	63					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)														---	---	---	---	capture		Missense_Mutation	SNP	59323210	59323210	13902	15	A	C	C	4	4	RNF111	C	4	4
KIF23	9493	broad.mit.edu	37	15	69715541	69715541	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69715541G>C	uc002asb.2	+	7	724	c.607G>C	c.(607-609)GAA>CAA	p.E203Q	KIF23_uc002asc.2_Missense_Mutation_p.E203Q|KIF23_uc010bii.2_Missense_Mutation_p.E93Q|KIF23_uc010ukc.1_Missense_Mutation_p.E6Q|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	203	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	69715541	69715541	8602	15	G	C	C	33	33	KIF23	C	3	3
KIAA0430	9665	broad.mit.edu	37	16	15730188	15730188	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15730188C>A	uc002ddr.2	-	3	349	c.156G>T	c.(154-156)ATG>ATT	p.M52I	KIAA0430_uc002ddq.2_Missense_Mutation_p.M51I|KIAA0430_uc010uzv.1_Missense_Mutation_p.M51I|KIAA0430_uc010uzw.1_Missense_Mutation_p.M51I|KIAA0430_uc010uzx.1_Missense_Mutation_p.M51I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	51						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15730188	15730188	8484	16	C	A	A	21	21	KIAA0430	A	2	2
GTF3C1	2975	broad.mit.edu	37	16	27495561	27495561	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27495561G>A	uc002dov.1	-	25	4012	c.3972C>T	c.(3970-3972)GTC>GTT	p.V1324V	GTF3C1_uc002dou.2_Silent_p.V1324V	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1324						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	27495561	27495561	7152	16	G	A	A	45	45	GTF3C1	A	2	2
RNF40	9810	broad.mit.edu	37	16	30773931	30773931	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30773931T>C	uc002dzq.2	+	2	188	c.65T>C	c.(64-66)CTG>CCG	p.L22P	C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.L22P|RNF40_uc010cab.2_Missense_Mutation_p.L22P|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.L22P|RNF40_uc010vfb.1_Missense_Mutation_p.L22P	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	22					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	30773931	30773931	13972	16	T	C	C	55	55	RNF40	C	4	4
RRAD	6236	broad.mit.edu	37	16	66957790	66957790	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66957790C>A	uc002eqn.2	-	3	555	c.403G>T	c.(403-405)GGA>TGA	p.G135*	RRAD_uc002eqo.2_Nonsense_Mutation_p.G135*	NM_001128850	NP_001122322	P55042	RAD_HUMAN	Ras-related associated with diabetes	135					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)														---	---	---	---	capture		Nonsense_Mutation	SNP	66957790	66957790	14151	16	C	A	A	23	23	RRAD	A	5	1
ATP2C2	9914	broad.mit.edu	37	16	84492924	84492924	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84492924G>T	uc002fhx.2	+	23	2354	c.2265G>T	c.(2263-2265)CTG>CTT	p.L755L	ATP2C2_uc010chj.2_Silent_p.L755L|ATP2C2_uc002fhy.2_Silent_p.L772L|ATP2C2_uc002fhz.2_Silent_p.L604L|ATP2C2_uc002fia.2_5'Flank	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	755	Helical; Name=6; (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	84492924	84492924	1163	16	G	T	T	46	46	ATP2C2	T	2	2
IL17C	27189	broad.mit.edu	37	16	88705514	88705514	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88705514C>T	uc002fla.2	+	2	181	c.132C>T	c.(130-132)CTC>CTT	p.L44L		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	interleukin 17C precursor	44					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity				0				BRCA - Breast invasive adenocarcinoma(80;0.0477)														---	---	---	---	capture		Silent	SNP	88705514	88705514	7937	16	C	T	T	31	31	IL17C	T	1	1
RPL13	6137	broad.mit.edu	37	16	89628749	89628749	+	Missense_Mutation	SNP	G	A	A	rs140485395		TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89628749G>A	uc002fnm.1	+	5	478	c.427G>A	c.(427-429)GAA>AAA	p.E143K	RPL13_uc010vpj.1_Missense_Mutation_p.E96K|RPL13_uc002fnn.1_Missense_Mutation_p.E143K|RPL13_uc002fno.1_3'UTR	NM_000977	NP_000968	P26373	RL13_HUMAN	ribosomal protein L13	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic ribosome	protein binding|RNA binding|structural constituent of ribosome				0		all_hematologic(23;0.0748)		all cancers(4;1.15e-07)|OV - Ovarian serous cystadenocarcinoma(4;7.8e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0139)														---	---	---	---	capture		Missense_Mutation	SNP	89628749	89628749	14038	16	G	A	A	33	33	RPL13	A	2	2
OR1E2	8388	broad.mit.edu	37	17	3336248	3336248	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3336248G>T	uc010vre.1	-	1	888	c.888C>A	c.(886-888)CCC>CCA	p.P296P		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	296	Helical; Name=7; (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1																		---	---	---	---	capture		Silent	SNP	3336248	3336248	11361	17	G	T	T	35	35	OR1E2	T	2	2
USP6	9098	broad.mit.edu	37	17	5048769	5048769	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5048769C>G	uc002gau.1	+	27	4292	c.2062C>G	c.(2062-2064)CAA>GAA	p.Q688E	USP6_uc002gav.1_Missense_Mutation_p.Q688E|USP6_uc010ckz.1_Missense_Mutation_p.Q371E	NM_004505	NP_004496	P35125	UBP6_HUMAN	ubiquitin specific protease 6	688					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5								T	COL1A1|CDH11|ZNF9|OMD	aneurysmal bone cysts								---	---	---	---	capture		Missense_Mutation	SNP	5048769	5048769	17650	17	C	G	G	29	29	USP6	G	3	3
KDM6B	23135	broad.mit.edu	37	17	7750890	7750890	+	Silent	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7750890C>A	uc002giw.1	+	11	1660	c.1284C>A	c.(1282-1284)CCC>CCA	p.P428P	KDM6B_uc002gix.2_5'UTR	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	428	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---	capture		Silent	SNP	7750890	7750890	8444	17	C	A	A	23	23	KDM6B	A	1	1
PIGS	94005	broad.mit.edu	37	17	26885558	26885558	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26885558G>A	uc002hbo.2	-	8	1243	c.870C>T	c.(868-870)TCC>TCT	p.S290S	PIGS_uc002hbn.2_Silent_p.S282S|PIGS_uc010wap.1_Silent_p.S229S	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	290	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)																	---	---	---	---	capture		Silent	SNP	26885558	26885558	12322	17	G	A	A	35	35	PIGS	A	2	2
RASL10B	91608	broad.mit.edu	37	17	34068269	34068269	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34068269A>G	uc002hju.2	+	4	923	c.557A>G	c.(556-558)CAC>CGC	p.H186R		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B precursor	186	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			lung(2)|breast(2)	4				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	34068269	34068269	13541	17	A	G	G	6	6	RASL10B	G	4	4
DUSP14	11072	broad.mit.edu	37	17	35872857	35872857	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35872857C>T	uc002hnx.2	+	3	777	c.483C>T	c.(481-483)TAC>TAT	p.Y161Y	DUSP14_uc002hny.2_Silent_p.Y148Y|DUSP14_uc002hnz.2_Silent_p.Y148Y	NM_007026	NP_008957	O95147	DUS14_HUMAN	dual specificity phosphatase 14	161							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Breast(25;0.00637)|Ovarian(249;0.15)																---	---	---	---	capture		Silent	SNP	35872857	35872857	4999	17	C	T	T	19	19	DUSP14	T	1	1
WNK4	65266	broad.mit.edu	37	17	40948204	40948204	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40948204C>A	uc002ibj.2	+	17	3516	c.3495C>A	c.(3493-3495)AGC>AGA	p.S1165R	WNK4_uc010wgx.1_Missense_Mutation_p.S829R|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.3_5'Flank|CNTD1_uc010wha.1_5'Flank	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1165					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)														---	---	---	---	capture		Missense_Mutation	SNP	40948204	40948204	17954	17	C	A	A	26	26	WNK4	A	2	2
HDAC5	10014	broad.mit.edu	37	17	42162413	42162413	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42162413T>C	uc002ifd.1	-	15	2372	c.2161A>G	c.(2161-2163)ACA>GCA	p.T721A	HDAC5_uc002ife.1_Missense_Mutation_p.T721A|HDAC5_uc002iff.1_Missense_Mutation_p.T722A|HDAC5_uc010czp.1_Intron|HDAC5_uc002ifg.1_Missense_Mutation_p.T31A|HDAC5_uc002ifh.2_Missense_Mutation_p.T721A	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	721	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)														---	---	---	---	capture		Missense_Mutation	SNP	42162413	42162413	7293	17	T	C	C	58	58	HDAC5	C	4	4
MRPL10	124995	broad.mit.edu	37	17	45901685	45901685	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45901685G>T	uc002ilz.2	-	5	698	c.672C>A	c.(670-672)CAC>CAA	p.H224Q	OSBPL7_uc002ilx.1_5'Flank|MRPL10_uc010wky.1_Missense_Mutation_p.H185Q|MRPL10_uc002ily.2_Missense_Mutation_p.H234Q	NM_145255	NP_660298	Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10 precursor	224					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	45901685	45901685	10168	17	G	T	T	44	44	MRPL10	T	2	2
CDK5RAP3	80279	broad.mit.edu	37	17	46056209	46056209	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46056209G>T	uc002imr.2	+	11	1087	c.1003G>T	c.(1003-1005)GCC>TCC	p.A335S	CDK5RAP3_uc010wlc.1_Missense_Mutation_p.A355S|CDK5RAP3_uc002imq.1_Missense_Mutation_p.A110S|CDK5RAP3_uc002imu.2_Missense_Mutation_p.A179S|CDK5RAP3_uc002ims.2_Missense_Mutation_p.A248S|CDK5RAP3_uc002imv.2_Missense_Mutation_p.A179S|CDK5RAP3_uc002imw.2_Missense_Mutation_p.A177S|CDK5RAP3_uc002imx.2_Missense_Mutation_p.A110S	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	335					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding				0																OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	46056209	46056209	3276	17	G	T	T	46	46	CDK5RAP3	T	2	2
UBE2Z	65264	broad.mit.edu	37	17	47004450	47004450	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47004450G>T	uc002ioi.2	+	7	1118	c.1019G>T	c.(1018-1020)AGT>ATT	p.S340I		NM_023079	NP_075567	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	340					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	47004450	47004450	17436	17	G	T	T	36	36	UBE2Z	T	2	2
MPO	4353	broad.mit.edu	37	17	56348128	56348128	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56348128G>A	uc002ivu.1	-	12	2304	c.2127C>T	c.(2125-2127)ATC>ATT	p.I709I		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	709					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)													---	---	---	---	capture		Silent	SNP	56348128	56348128	10124	17	G	A	A	45	45	MPO	A	2	2
NOL11	25926	broad.mit.edu	37	17	65720260	65720260	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65720260G>C	uc002jgd.1	+	6	618	c.615G>C	c.(613-615)AAG>AAC	p.K205N	NOL11_uc010wql.1_Missense_Mutation_p.K23N|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	205						nucleolus					0	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	65720260	65720260	10924	17	G	C	C	33	33	NOL11	C	3	3
KIAA0195	9772	broad.mit.edu	37	17	73487408	73487408	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73487408G>T	uc002jnz.3	+	13	1533	c.1258G>T	c.(1258-1260)GGG>TGG	p.G420W	KIAA0195_uc010wsa.1_Missense_Mutation_p.G430W|KIAA0195_uc010wsb.1_Missense_Mutation_p.G72W	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	420					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73487408	73487408	8467	17	G	T	T	43	43	KIAA0195	T	2	2
NARF	26502	broad.mit.edu	37	17	80442724	80442724	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80442724A>G	uc002kfg.3	+	9	1009	c.869A>G	c.(868-870)CAT>CGT	p.H290R	NARF_uc002kff.3_Missense_Mutation_p.H231R|NARF_uc010wvp.1_3'UTR|NARF_uc010dit.2_Missense_Mutation_p.H336R|NARF_uc002kfj.3_Missense_Mutation_p.H242R|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.H336R|NARF_uc002kfk.2_RNA	NM_012336	NP_036468	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor isoform a	290						lamin filament	lamin binding			skin(1)	1	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)															---	---	---	---	capture		Missense_Mutation	SNP	80442724	80442724	10563	17	A	G	G	8	8	NARF	G	4	4
ASXL3	80816	broad.mit.edu	37	18	31324466	31324466	+	Silent	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31324466T>C	uc010dmg.1	+	12	4709	c.4654T>C	c.(4654-4656)TTG>CTG	p.L1552L	ASXL3_uc002kxq.2_Silent_p.L1259L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	1552					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		Silent	SNP	31324466	31324466	1087	18	T	C	C	52	52	ASXL3	C	4	4
SLC14A2	8170	broad.mit.edu	37	18	43219767	43219767	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:43219767G>T	uc010dnj.2	+	8	1221	c.900G>T	c.(898-900)TGG>TGT	p.W300C	SLC14A2_uc002lbb.2_Missense_Mutation_p.W300C|SLC14A2_uc002lbe.2_Missense_Mutation_p.W300C	NM_007163	NP_009094	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter),	300						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	43219767	43219767	14892	18	G	T	T	41	41	SLC14A2	T	2	2
PIAS2	9063	broad.mit.edu	37	18	44470757	44470757	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44470757G>A	uc002lck.2	-	2	443	c.285C>T	c.(283-285)GAC>GAT	p.D95D	PIAS2_uc010dnp.2_5'UTR|PIAS2_uc002lcl.2_Silent_p.D95D|PIAS2_uc010xda.1_Intron|PIAS2_uc002lcm.2_Silent_p.D95D|PIAS2_uc002lcn.1_Silent_p.D99D	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	95					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	44470757	44470757	12300	18	G	A	A	36	36	PIAS2	A	2	2
CCBE1	147372	broad.mit.edu	37	18	57103325	57103325	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:57103325G>A	uc002lib.2	-	11	1106	c.1036C>T	c.(1036-1038)CGC>TGC	p.R346C	CCBE1_uc010dpq.2_Missense_Mutation_p.R75C|CCBE1_uc002lia.2_Missense_Mutation_p.R199C	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	346					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			skin(2)|ovary(1)	3		Colorectal(73;0.175)																---	---	---	---	capture		Missense_Mutation	SNP	57103325	57103325	2851	18	G	A	A	39	39	CCBE1	A	1	1
ZNF554	115196	broad.mit.edu	37	19	2834406	2834406	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2834406G>C	uc002lwm.2	+	5	1371	c.1173G>C	c.(1171-1173)AGG>AGC	p.R391S	ZNF554_uc002lwl.2_Missense_Mutation_p.R340S	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	391	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	2834406	2834406	18580	19	G	C	C	41	41	ZNF554	C	3	3
LRG1	116844	broad.mit.edu	37	19	4538952	4538952	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4538952A>G	uc002mau.2	-	2	55	c.44T>C	c.(43-45)ATT>ACT	p.I15T	PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1 precursor	15						extracellular region|membrane				ovary(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	4538952	4538952	9315	19	A	G	G	4	4	LRG1	G	4	4
MUC16	94025	broad.mit.edu	37	19	9091636	9091636	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091636G>A	uc002mkp.2	-	1	383	c.179C>T	c.(178-180)CCA>CTA	p.P60L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	60	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9091636	9091636	10367	19	G	A	A	47	47	MUC16	A	2	2
ZNF562	54811	broad.mit.edu	37	19	9763810	9763810	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9763810G>C	uc010xks.1	-	6	1259	c.1096C>G	c.(1096-1098)CAC>GAC	p.H366D	ZNF562_uc002mly.2_Missense_Mutation_p.H366D|ZNF562_uc002mlx.2_Missense_Mutation_p.H294D|ZNF562_uc010xkt.1_Missense_Mutation_p.H329D|ZNF562_uc010xku.1_Missense_Mutation_p.H297D|ZNF562_uc010xkv.1_Missense_Mutation_p.H365D|ZNF562_uc010xkw.1_Missense_Mutation_p.H250D	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	366	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	9763810	9763810	18588	19	G	C	C	45	45	ZNF562	C	3	3
ZNF562	54811	broad.mit.edu	37	19	9763923	9763923	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9763923G>C	uc010xks.1	-	6	1146	c.983C>G	c.(982-984)TCA>TGA	p.S328*	ZNF562_uc002mly.2_Nonsense_Mutation_p.S328*|ZNF562_uc002mlx.2_Nonsense_Mutation_p.S256*|ZNF562_uc010xkt.1_Nonsense_Mutation_p.S291*|ZNF562_uc010xku.1_Nonsense_Mutation_p.S259*|ZNF562_uc010xkv.1_Nonsense_Mutation_p.S327*|ZNF562_uc010xkw.1_Nonsense_Mutation_p.S212*	NM_001130032	NP_001123504	Q6V9R5	ZN562_HUMAN	zinc finger protein 562 isoform a	328	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	9763923	9763923	18588	19	G	C	C	45	45	ZNF562	C	5	3
ZNF20	7568	broad.mit.edu	37	19	12243726	12243726	+	Silent	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12243726A>G	uc002mtf.1	-	4	1418	c.1275T>C	c.(1273-1275)TGT>TGC	p.C425C	ZNF20_uc002mte.1_Silent_p.C390C|ZNF20_uc002mtg.1_Silent_p.C425C	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	425	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	12243726	12243726	18352	19	A	G	G	14	14	ZNF20	G	4	4
ZNF100	163227	broad.mit.edu	37	19	21910559	21910559	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21910559G>T	uc002nqi.2	-	5	754	c.555C>A	c.(553-555)GTC>GTA	p.V185V	ZNF100_uc002nqh.2_Silent_p.V121V	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	185	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	21910559	21910559	18304	19	G	T	T	33	33	ZNF100	T	2	2
LSR	51599	broad.mit.edu	37	19	35757275	35757275	+	Silent	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35757275C>A	uc002nyl.2	+	6	1159	c.936C>A	c.(934-936)GGC>GGA	p.G312G	LSR_uc002nym.2_Silent_p.G293G|LSR_uc002nyn.2_Silent_p.G244G|LSR_uc002nyo.2_Silent_p.G293G|LSR_uc010xsr.1_Silent_p.G204G|LSR_uc002nyp.2_Silent_p.G275G|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	312	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)															---	---	---	---	capture		Silent	SNP	35757275	35757275	9440	19	C	A	A	25	25	LSR	A	2	2
ZNF473	25888	broad.mit.edu	37	19	50550136	50550136	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50550136G>A	uc002prn.2	+	5	2673	c.2436G>A	c.(2434-2436)AAG>AAA	p.K812K	ZNF473_uc002prm.2_Silent_p.K812K|ZNF473_uc010ybo.1_Silent_p.K800K	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	812					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)												OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	50550136	50550136	18525	19	G	A	A	34	34	ZNF473	A	2	2
LILRA2	11027	broad.mit.edu	37	19	55086982	55086982	+	Missense_Mutation	SNP	G	T	T	rs143337690		TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55086982G>T	uc002qgg.3	+	5	1004	c.915G>T	c.(913-915)TGG>TGT	p.W305C	LILRA2_uc010ern.2_Missense_Mutation_p.W305C|LILRA2_uc002qgf.2_Missense_Mutation_p.W305C|LILRA2_uc010yfe.1_Missense_Mutation_p.W305C|LILRA2_uc010yff.1_Missense_Mutation_p.W293C|LILRA2_uc010ero.2_Missense_Mutation_p.W293C|LILRA2_uc010yfg.1_Intron	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor,	305	Ig-like C2-type 3.|Extracellular (Potential).				defense response	integral to membrane	antigen binding|receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0963)														---	---	---	---	capture		Missense_Mutation	SNP	55086982	55086982	9111	19	G	T	T	44	44	LILRA2	T	2	2
KIR2DL3	3804	broad.mit.edu	37	19	55255266	55255266	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55255266T>G	uc002qgv.2	+	4	412	c.394T>G	c.(394-396)TCA>GCA	p.S132A	KIR2DL3_uc002qgx.2_Missense_Mutation_p.S132A|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_Missense_Mutation_p.S132A|KIR2DL1_uc002qgz.1_Missense_Mutation_p.S42A|KIR2DL3_uc002qha.1_Intron	NM_015868	NP_056952	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two	132	Extracellular (Potential).				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(193;0.0192)														---	---	---	---	capture		Missense_Mutation	SNP	55255266	55255266	8629	19	T	G	G	54	54	KIR2DL3	G	4	4
WDR35	57539	broad.mit.edu	37	2	20153629	20153629	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20153629G>C	uc002rdi.2	-	13	1507	c.1399C>G	c.(1399-1401)CAG>GAG	p.Q467E	WDR35_uc002rdj.2_Missense_Mutation_p.Q456E|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Missense_Mutation_p.Q32E|WDR35_uc002rdk.3_Missense_Mutation_p.Q32E	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	467										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Missense_Mutation	SNP	20153629	20153629	17862	2	G	C	C	45	45	WDR35	C	3	3
DHX57	90957	broad.mit.edu	37	2	39095469	39095469	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39095469T>C	uc002rrf.2	-	2	178	c.79A>G	c.(79-81)AGG>GGG	p.R27G	DHX57_uc002rre.2_5'Flank|DHX57_uc002rrg.2_Missense_Mutation_p.R27G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	27	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		all_hematologic(82;0.248)																---	---	---	---	capture		Missense_Mutation	SNP	39095469	39095469	4692	2	T	C	C	55	55	DHX57	C	4	4
SRBD1	55133	broad.mit.edu	37	2	45778336	45778336	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:45778336G>A	uc002rus.2	-	12	1679	c.1603C>T	c.(1603-1605)CCA>TCA	p.P535S	SRBD1_uc010yoc.1_Missense_Mutation_p.P54S	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	535					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	45778336	45778336	15647	2	G	A	A	41	41	SRBD1	A	2	2
RTN4	57142	broad.mit.edu	37	2	55253647	55253647	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55253647C>G	uc002rye.2	-	3	1886	c.1588G>C	c.(1588-1590)GTC>CTC	p.V530L	RTN4_uc002ryd.2_Missense_Mutation_p.V324L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron	NM_020532	NP_065393	Q9NQC3	RTN4_HUMAN	reticulon 4 isoform A	530	Cytoplasmic (Potential).				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			ovary(2)|large_intestine(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	55253647	55253647	14208	2	C	G	G	17	17	RTN4	G	3	3
C2orf78	388960	broad.mit.edu	37	2	74042819	74042819	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74042819G>T	uc002sjr.1	+	3	1590	c.1469G>T	c.(1468-1470)TGT>TTT	p.C490F		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	hypothetical protein LOC388960	490										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	74042819	74042819	2285	2	G	T	T	48	48	C2orf78	T	2	2
REG1A	5967	broad.mit.edu	37	2	79348713	79348713	+	Silent	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79348713C>A	uc002snz.2	+	3	193	c.90C>A	c.(88-90)CCC>CCA	p.P30P	REG1A_uc010ffx.1_Silent_p.P30P|REG1A_uc010ysd.1_Silent_p.P30P	NM_002909	NP_002900	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha precursor	30					positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding				0																		---	---	---	---	capture		Silent	SNP	79348713	79348713	13679	2	C	A	A	22	22	REG1A	A	2	2
SLC20A1	6574	broad.mit.edu	37	2	113405026	113405026	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113405026G>C	uc002tib.2	+	3	906	c.460G>C	c.(460-462)GAA>CAA	p.E154Q	uc010fkq.1_5'Flank	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate	154	Extracellular (Potential).				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	113405026	113405026	14934	2	G	C	C	45	45	SLC20A1	C	3	3
LRP1B	53353	broad.mit.edu	37	2	141457889	141457889	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141457889G>T	uc002tvj.1	-	41	7701	c.6729C>A	c.(6727-6729)TAC>TAA	p.Y2243*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2243	Extracellular (Potential).|LDL-receptor class B 23.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Nonsense_Mutation	SNP	141457889	141457889	9328	2	G	T	T	48	48	LRP1B	T	5	2
COBLL1	22837	broad.mit.edu	37	2	165584620	165584620	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165584620G>T	uc010zcw.1	-	6	803	c.679C>A	c.(679-681)CCT>ACT	p.P227T	COBLL1_uc002ucp.2_Missense_Mutation_p.P174T|COBLL1_uc002ucq.2_Missense_Mutation_p.P174T|COBLL1_uc010zcx.1_Missense_Mutation_p.P220T|COBLL1_uc002ucs.1_RNA	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	212										ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	165584620	165584620	3792	2	G	T	T	43	43	COBLL1	T	2	2
SCN2A	6326	broad.mit.edu	37	2	166165204	166165204	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166165204G>C	uc002udc.2	+	5	795	c.505G>C	c.(505-507)GAA>CAA	p.E169Q	SCN2A_uc002udd.2_Missense_Mutation_p.E169Q|SCN2A_uc002ude.2_Missense_Mutation_p.E169Q	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha	169	I.|Helical; Name=S2 of repeat I; (Potential).				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|breast(1)|pancreas(1)	8					Lamotrigine(DB00555)													---	---	---	---	capture		Missense_Mutation	SNP	166165204	166165204	14398	2	G	C	C	45	45	SCN2A	C	3	3
LRP2	4036	broad.mit.edu	37	2	170097507	170097507	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170097507G>T	uc002ues.2	-	25	4249	c.4036C>A	c.(4036-4038)CCA>ACA	p.P1346T	LRP2_uc010zdf.1_Missense_Mutation_p.P1209T	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	1346	LDL-receptor class A 15.|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		Missense_Mutation	SNP	170097507	170097507	9329	2	G	T	T	43	43	LRP2	T	2	2
NFE2L2	4780	broad.mit.edu	37	2	178098953	178098953	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178098953C>G	uc002ulh.3	-	2	647	c.92G>C	c.(91-93)GGA>GCA	p.G31A	NFE2L2_uc002ulg.3_Missense_Mutation_p.G15A|NFE2L2_uc010zfa.1_Missense_Mutation_p.G15A|NFE2L2_uc002uli.3_Missense_Mutation_p.G15A|NFE2L2_uc010fra.2_Missense_Mutation_p.G15A|NFE2L2_uc010frb.2_Missense_Mutation_p.G15A	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	nuclear factor erythroid 2-like 2 isoform 1	31					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G31R(1)		central_nervous_system(1)	1			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)					Mis		NSCLC|HNSCC					HNSCC(56;0.16)			---	---	---	---	capture		Missense_Mutation	SNP	178098953	178098953	10768	2	C	G	G	30	30	NFE2L2	G	3	3
TTN	7273	broad.mit.edu	37	2	179434029	179434029	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179434029G>T	uc010zfg.1	-	275	69350	c.69126C>A	c.(69124-69126)GTC>GTA	p.V23042V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V16737V|TTN_uc010zfi.1_Silent_p.V16670V|TTN_uc010zfj.1_Silent_p.V16545V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23969							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		Silent	SNP	179434029	179434029	17290	2	G	T	T	45	45	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179606435	179606435	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179606435G>A	uc010zfh.1	-	46	11236	c.11012C>T	c.(11011-11013)ACT>ATT	p.T3671I	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.T3604I|TTN_uc010zfj.1_Missense_Mutation_p.T3479I|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	3643							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	179606435	179606435	17290	2	G	A	A	36	36	TTN	A	2	2
DNAH7	56171	broad.mit.edu	37	2	196759756	196759756	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196759756C>T	uc002utj.3	-	30	4941	c.4840G>A	c.(4840-4842)GGA>AGA	p.G1614R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1614	ATP (Potential).|AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---	capture		Missense_Mutation	SNP	196759756	196759756	4789	2	C	T	T	24	24	DNAH7	T	2	2
STK17B	9262	broad.mit.edu	37	2	197004392	197004392	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197004392G>A	uc002utk.2	-	7	1112	c.788C>T	c.(787-789)TCA>TTA	p.S263L	STK17B_uc010fsh.2_Missense_Mutation_p.S263L	NM_004226	NP_004217	O94768	ST17B_HUMAN	serine/threonine kinase 17B	263	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			lung(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.141)															---	---	---	---	capture		Missense_Mutation	SNP	197004392	197004392	15811	2	G	A	A	45	45	STK17B	A	2	2
CPS1	1373	broad.mit.edu	37	2	211521310	211521310	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211521310C>A	uc002vee.3	+	30	3752	c.3620C>A	c.(3619-3621)ACT>AAT	p.T1207N	CPS1_uc010fur.2_Missense_Mutation_p.T1213N|CPS1_uc010fus.2_Missense_Mutation_p.T756N	NM_001875	NP_001866	P31327	CPSM_HUMAN	carbamoyl-phosphate synthetase 1 isoform b	1207	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---	capture		Missense_Mutation	SNP	211521310	211521310	3961	2	C	A	A	20	20	CPS1	A	2	2
ESPNL	339768	broad.mit.edu	37	2	239036341	239036341	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239036341C>A	uc002vxq.3	+	7	1291	c.1181C>A	c.(1180-1182)CCG>CAG	p.P394Q	ESPNL_uc010fyw.2_Missense_Mutation_p.P90Q	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	394	Pro-rich.									pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)														---	---	---	---	capture		Missense_Mutation	SNP	239036341	239036341	5448	2	C	A	A	23	23	ESPNL	A	1	1
PLCB1	23236	broad.mit.edu	37	20	8707972	8707972	+	Silent	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:8707972T>C	uc002wnb.2	+	17	1698	c.1695T>C	c.(1693-1695)TTT>TTC	p.F565F	PLCB1_uc010zrb.1_Silent_p.F464F|PLCB1_uc002wna.2_Silent_p.F565F|PLCB1_uc002wnc.1_Silent_p.F464F|PLCB1_uc002wnd.1_Silent_p.F142F	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	phosphoinositide-specific phospholipase C beta 1	565	PI-PLC Y-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12																		---	---	---	---	capture		Silent	SNP	8707972	8707972	12453	20	T	C	C	63	63	PLCB1	C	4	4
MYH7B	57644	broad.mit.edu	37	20	33572514	33572514	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33572514C>T	uc002xbi.1	+	9	862	c.770C>T	c.(769-771)ACG>ATG	p.T257M		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	myosin, heavy polypeptide 7B, cardiac muscle,	215	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---	capture		Missense_Mutation	SNP	33572514	33572514	10435	20	C	T	T	19	19	MYH7B	T	1	1
UQCC	55245	broad.mit.edu	37	20	33894581	33894581	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33894581C>A	uc002xcd.2	-	9	720	c.653G>T	c.(652-654)GGG>GTG	p.G218V	UQCC_uc010zuy.1_Missense_Mutation_p.G119V|UQCC_uc010zuz.1_Missense_Mutation_p.G63V|UQCC_uc010zva.1_Missense_Mutation_p.G81V|UQCC_uc002xce.2_Missense_Mutation_p.G191V|UQCC_uc002xcg.2_Missense_Mutation_p.G84V|UQCC_uc010gfb.2_Missense_Mutation_p.G192V|UQCC_uc010zvb.1_Missense_Mutation_p.G150V|UQCC_uc002xcf.2_Missense_Mutation_p.G106V|UQCC_uc002xch.2_5'Flank|UQCC_uc002xcc.2_Missense_Mutation_p.G31V	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	218						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)													OREG0025889	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	33894581	33894581	17576	20	C	A	A	22	22	UQCC	A	2	2
DLGAP4	22839	broad.mit.edu	37	20	35060757	35060757	+	Missense_Mutation	SNP	G	T	T	rs139325281		TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35060757G>T	uc002xff.2	+	3	1072	c.637G>T	c.(637-639)GGC>TGC	p.G213C	DLGAP4_uc010zvp.1_Missense_Mutation_p.G213C	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	213					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Missense_Mutation	SNP	35060757	35060757	4742	20	G	T	T	39	39	DLGAP4	T	1	1
HNF4A	3172	broad.mit.edu	37	20	42984469	42984469	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42984469G>T	uc002xlv.2	+	1	29	c.25G>T	c.(25-27)GGG>TGG	p.G9W	HNF4A_uc010zwo.1_5'UTR|HNF4A_uc002xlt.2_Missense_Mutation_p.G9W|HNF4A_uc002xlu.2_Missense_Mutation_p.G9W	NM_175914	NP_787110	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4 alpha isoform d	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---	capture		Missense_Mutation	SNP	42984469	42984469	7545	20	G	T	T	39	39	HNF4A	T	1	1
SERINC3	10955	broad.mit.edu	37	20	43129878	43129878	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43129878G>A	uc002xme.2	-	9	1253	c.1119C>T	c.(1117-1119)ATC>ATT	p.I373I	SERINC3_uc002xmf.1_Silent_p.I373I|SERINC3_uc010ggs.1_Silent_p.I366I|SERINC3_uc010zwp.1_Silent_p.I318I	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	373	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---	capture		Silent	SNP	43129878	43129878	14569	20	G	A	A	41	41	SERINC3	A	2	2
SON	6651	broad.mit.edu	37	21	34927341	34927341	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34927341G>A	uc002yse.1	+	3	5853	c.5804G>A	c.(5803-5805)AGT>AAT	p.S1935N	SON_uc002ysb.1_Missense_Mutation_p.S1935N|SON_uc002ysc.2_Missense_Mutation_p.S1935N|SON_uc002ysd.2_Missense_Mutation_p.S926N|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S926N	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	1935	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.|3-1.|7 X 7 AA repeats of P-S-R-R-S-R-[TS].				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	34927341	34927341	15426	21	G	A	A	36	36	SON	A	2	2
SETD4	54093	broad.mit.edu	37	21	37408483	37408483	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37408483T>A	uc002yuw.1	-	10	2628	c.1255A>T	c.(1255-1257)ACG>TCG	p.T419S	SETD4_uc002yux.1_Missense_Mutation_p.T395S|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.T419S	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	SET domain containing 4 isoform a	419				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	37408483	37408483	14622	21	T	A	A	58	58	SETD4	A	4	4
FAM3B	54097	broad.mit.edu	37	21	42720533	42720533	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42720533C>G	uc002yzb.1	+	7	646	c.500C>G	c.(499-501)GCC>GGC	p.A167G	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Missense_Mutation_p.A119G|FAM3B_uc002yzd.1_Missense_Mutation_p.A190G	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	167					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)																---	---	---	---	capture		Missense_Mutation	SNP	42720533	42720533	5778	21	C	G	G	26	26	FAM3B	G	3	3
XRCC6	2547	broad.mit.edu	37	22	42032651	42032651	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42032651G>A	uc003bao.1	+	5	536	c.466G>A	c.(466-468)GAT>AAT	p.D156N	XRCC6_uc003bap.1_Missense_Mutation_p.D115N|XRCC6_uc011apc.1_Missense_Mutation_p.D106N|XRCC6_uc003baq.1_Missense_Mutation_p.D156N|XRCC6_uc003bar.1_Missense_Mutation_p.D156N|XRCC6_uc003bas.1_Missense_Mutation_p.D106N	NM_001469	NP_001460	P12956	XRCC6_HUMAN	ATP-dependent DNA helicase II, 70 kDa subunit	156					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			skin(2)|ovary(1)|lung(1)|kidney(1)	5													Direct_reversal_of_damage|NHEJ					---	---	---	---	capture		Missense_Mutation	SNP	42032651	42032651	18040	22	G	A	A	45	45	XRCC6	A	2	2
SEC13	6396	broad.mit.edu	37	3	10347307	10347307	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10347307G>A	uc003bvn.2	-	6	639	c.520C>T	c.(520-522)CAG>TAG	p.Q174*	SEC13_uc003bvl.2_Nonsense_Mutation_p.Q106*|SEC13_uc003bvm.2_Nonsense_Mutation_p.Q160*|SEC13_uc003bvp.2_Nonsense_Mutation_p.Q177*|SEC13_uc003bvo.2_Nonsense_Mutation_p.Q220*|SEC13_uc003bvq.1_Nonsense_Mutation_p.Q160*|SEC13_uc003bvr.1_Nonsense_Mutation_p.Q160*	NM_183352	NP_899195	P55735	SEC13_HUMAN	SEC13 protein isoform 1	174	WD 4.				COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	10347307	10347307	14466	3	G	A	A	46	46	SEC13	A	5	2
FGD5	152273	broad.mit.edu	37	3	14862234	14862234	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14862234C>T	uc003bzc.2	+	1	1766	c.1656C>T	c.(1654-1656)TCC>TCT	p.S552S	FGD5_uc011avk.1_Silent_p.S552S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	552					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			ovary(3)|kidney(1)|pancreas(1)	5																		---	---	---	---	capture		Silent	SNP	14862234	14862234	6073	3	C	T	T	23	23	FGD5	T	1	1
NGLY1	55768	broad.mit.edu	37	3	25777608	25777608	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:25777608G>T	uc003cdl.2	-	7	1144	c.1036C>A	c.(1036-1038)CAG>AAG	p.Q346K	NGLY1_uc010hfg.2_Intron|NGLY1_uc003cdm.2_Missense_Mutation_p.Q346K|NGLY1_uc011awo.1_Missense_Mutation_p.Q304K|NGLY1_uc003cdk.2_RNA	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	N-glycanase 1 isoform 1	346					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	25777608	25777608	10798	3	G	T	T	45	45	NGLY1	T	2	2
OSBPL10	114884	broad.mit.edu	37	3	31871555	31871555	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31871555C>T	uc003cev.2	-	5	1087	c.706G>A	c.(706-708)GGC>AGC	p.G236S	OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	236					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)														---	---	---	---	capture		Missense_Mutation	SNP	31871555	31871555	11686	3	C	T	T	23	23	OSBPL10	T	1	1
XIRP1	165904	broad.mit.edu	37	3	39227557	39227557	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39227557A>T	uc003cjk.1	-	2	3601	c.3380T>A	c.(3379-3381)CTA>CAA	p.L1127Q	XIRP1_uc003cji.2_Intron|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1127							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---	capture		Missense_Mutation	SNP	39227557	39227557	18010	3	A	T	T	15	15	XIRP1	T	4	4
TRAK1	22906	broad.mit.edu	37	3	42133051	42133051	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42133051T>A	uc003cky.2	+	1	306	c.90T>A	c.(88-90)TGT>TGA	p.C30*	TRAK1_uc011azh.1_Nonsense_Mutation_p.C30*|TRAK1_uc011azi.1_Nonsense_Mutation_p.C30*	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	30					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	42133051	42133051	16993	3	T	A	A	59	59	TRAK1	A	5	4
DHX30	22907	broad.mit.edu	37	3	47883106	47883106	+	Splice_Site	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47883106G>T	uc003cru.2	+	8	1095	c.669_splice	c.e8-1	p.R223_splice	DHX30_uc003crs.2_Splice_Site_p.R184_splice|DHX30_uc003crt.2_Splice_Site_p.R184_splice|DHX30_uc010hjr.1_Splice_Site_p.R251_splice	NM_138615	NP_619520			DEAH (Asp-Glu-Ala-His) box polypeptide 30							mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---	capture		Splice_Site	SNP	47883106	47883106	4683	3	G	T	T	35	35	DHX30	T	5	2
PDE12	201626	broad.mit.edu	37	3	57545540	57545540	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57545540C>A	uc003diw.3	+	3	1765	c.1639C>A	c.(1639-1641)CCT>ACT	p.P547T	PDE12_uc003div.2_3'UTR	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	547							hydrolase activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)														---	---	---	---	capture		Missense_Mutation	SNP	57545540	57545540	12053	3	C	A	A	18	18	PDE12	A	2	2
C3orf15	89876	broad.mit.edu	37	3	119449178	119449178	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119449178G>T	uc003ede.3	+	8	1049	c.972G>T	c.(970-972)GAG>GAT	p.E324D	C3orf15_uc010hqy.1_Missense_Mutation_p.E324D|C3orf15_uc010hqz.2_Missense_Mutation_p.E262D|C3orf15_uc011bjd.1_Missense_Mutation_p.E198D|C3orf15_uc011bje.1_Missense_Mutation_p.E304D|C3orf15_uc010hra.1_Missense_Mutation_p.E85D	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	AAT1-alpha	324						mitochondrion	protein binding			ovary(2)|pancreas(1)	3				GBM - Glioblastoma multiforme(114;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	119449178	119449178	2301	3	G	T	T	35	35	C3orf15	T	2	2
STXBP5L	9515	broad.mit.edu	37	3	121100357	121100357	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121100357G>T	uc003eec.3	+	23	2777	c.2637G>T	c.(2635-2637)GAG>GAT	p.E879D	STXBP5L_uc011bji.1_Missense_Mutation_p.E855D	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	879	WD 11.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)														---	---	---	---	capture		Missense_Mutation	SNP	121100357	121100357	15877	3	G	T	T	34	34	STXBP5L	T	2	2
COPG	22820	broad.mit.edu	37	3	128996139	128996139	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128996139G>A	uc003els.2	+	24	2597	c.2497G>A	c.(2497-2499)GTG>ATG	p.V833M	COPG_uc010htb.2_Missense_Mutation_p.V739M|C3orf37_uc003elt.2_5'Flank|C3orf37_uc003elu.2_5'Flank|C3orf37_uc003elv.2_5'Flank|C3orf37_uc003elw.2_5'Flank	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	coatomer protein complex, subunit gamma 1	833	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			ovary(3)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	128996139	128996139	3869	3	G	A	A	48	48	COPG	A	2	2
GPR87	53836	broad.mit.edu	37	3	151012086	151012086	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012086G>T	uc003eyt.2	-	3	1309	c.948C>A	c.(946-948)TTC>TTA	p.F316L	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	316	Helical; Name=7; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	151012086	151012086	6991	3	G	T	T	45	45	GPR87	T	2	2
NMD3	51068	broad.mit.edu	37	3	160965101	160965101	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160965101G>A	uc003feb.1	+	13	1305	c.1186G>A	c.(1186-1188)GAT>AAT	p.D396N	NMD3_uc003fec.2_Missense_Mutation_p.D396N|NMD3_uc003fed.1_Missense_Mutation_p.D396N|NMD3_uc010hwh.2_Missense_Mutation_p.D216N	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	NMD3 homolog	396					protein transport	cytoplasm|nucleolus|nucleoplasm				ovary(1)	1			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)															---	---	---	---	capture		Missense_Mutation	SNP	160965101	160965101	10891	3	G	A	A	33	33	NMD3	A	2	2
ABCC5	10057	broad.mit.edu	37	3	183667611	183667611	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183667611G>T	uc003fmg.2	-	22	3322	c.3157C>A	c.(3157-3159)CAC>AAC	p.H1053N	ABCC5_uc011bqt.1_Missense_Mutation_p.H581N|ABCC5_uc010hxl.2_Intron	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1053	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---	capture		Missense_Mutation	SNP	183667611	183667611	57	3	G	T	T	47	47	ABCC5	T	2	2
C3orf59	151963	broad.mit.edu	37	3	192516538	192516538	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192516538G>T	uc011bsp.1	-	2	1434	c.1113C>A	c.(1111-1113)AAC>AAA	p.N371K		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	371											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---	capture		Missense_Mutation	SNP	192516538	192516538	2330	3	G	T	T	48	48	C3orf59	T	2	2
ACAP2	23527	broad.mit.edu	37	3	195027347	195027347	+	Splice_Site	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195027347T>A	uc003fun.3	-	13	1252	c.1011_splice	c.e13-1	p.K337_splice		NM_012287	NP_036419			centaurin, beta 2						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Splice_Site	SNP	195027347	195027347	120	3	T	A	A	53	53	ACAP2	A	5	4
ABLIM2	84448	broad.mit.edu	37	4	8046942	8046942	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8046942G>T	uc003gko.2	-	9	992	c.849C>A	c.(847-849)ATC>ATA	p.I283I	ABLIM2_uc003gkl.2_Silent_p.I33I|ABLIM2_uc003gkj.3_Silent_p.I283I|ABLIM2_uc003gkm.3_Silent_p.I283I|ABLIM2_uc003gkp.2_Silent_p.I283I|ABLIM2_uc003gkq.2_Silent_p.I283I|ABLIM2_uc003gkr.2_Silent_p.I283I|ABLIM2_uc003gks.3_Silent_p.I283I|ABLIM2_uc011bwl.1_Silent_p.I288I	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	283					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			pancreas(3)	3																		---	---	---	---	capture		Silent	SNP	8046942	8046942	96	4	G	T	T	45	45	ABLIM2	T	2	2
RELL1	768211	broad.mit.edu	37	4	37633048	37633048	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:37633048C>G	uc003gsz.2	-	6	868	c.778G>C	c.(778-780)GCA>CCA	p.A260P	RELL1_uc010ifc.2_Missense_Mutation_p.A260P	NM_001085399	NP_001078868	Q8IUW5	RELL1_HUMAN	receptor expressed in lymphoid tissues like 1	260	Cytoplasmic (Potential).					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	37633048	37633048	13687	4	C	G	G	26	26	RELL1	G	3	3
REST	5978	broad.mit.edu	37	4	57797830	57797830	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57797830G>T	uc003hch.2	+	4	3153	c.2806G>T	c.(2806-2808)GGT>TGT	p.G936C	REST_uc003hci.2_Missense_Mutation_p.G936C|REST_uc010ihf.2_Missense_Mutation_p.G610C	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	936					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---	capture		Missense_Mutation	SNP	57797830	57797830	13704	4	G	T	T	47	47	REST	T	2	2
ANKRD56	345079	broad.mit.edu	37	4	77816829	77816829	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77816829G>T	uc003hki.2	-	1	2174	c.2174C>A	c.(2173-2175)GCT>GAT	p.A725D		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	ankyrin repeat domain 56	725											0																		---	---	---	---	capture		Missense_Mutation	SNP	77816829	77816829	690	4	G	T	T	34	34	ANKRD56	T	2	2
NEUROG2	63973	broad.mit.edu	37	4	113436154	113436154	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:113436154A>G	uc003ias.2	-	2	805	c.478T>C	c.(478-480)TAC>CAC	p.Y160H		NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	neurogenin 2	160	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			skin(2)|central_nervous_system(1)	3		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)														---	---	---	---	capture		Missense_Mutation	SNP	113436154	113436154	10753	4	A	G	G	15	15	NEUROG2	G	4	4
NDST4	64579	broad.mit.edu	37	4	115773882	115773882	+	Silent	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115773882T>C	uc003ibu.2	-	8	2494	c.1815A>G	c.(1813-1815)ACA>ACG	p.T605T	NDST4_uc010imw.2_RNA	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	605	Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.|PAPS (By similarity).					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---	capture		Silent	SNP	115773882	115773882	10657	4	T	C	C	55	55	NDST4	C	4	4
NDST4	64579	broad.mit.edu	37	4	115997337	115997337	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115997337C>G	uc003ibu.2	-	2	1535	c.856G>C	c.(856-858)GAT>CAT	p.D286H	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	286	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---	capture		Missense_Mutation	SNP	115997337	115997337	10657	4	C	G	G	32	32	NDST4	G	3	3
PLRG1	5356	broad.mit.edu	37	4	155458514	155458514	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155458514A>G	uc003iny.2	-	14	1472	c.1409T>C	c.(1408-1410)TTT>TCT	p.F470S	PLRG1_uc003inz.2_Missense_Mutation_p.F461S	NM_002669	NP_002660	O43660	PLRG1_HUMAN	pleiotropic regulator 1 (PRL1 homolog,	470	WD 7.					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	155458514	155458514	12532	4	A	G	G	1	1	PLRG1	G	4	4
TMEM144	55314	broad.mit.edu	37	4	159140530	159140530	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159140530T>A	uc003ipx.2	+	6	921	c.401T>A	c.(400-402)CTA>CAA	p.L134Q	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	134	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)														---	---	---	---	capture		Missense_Mutation	SNP	159140530	159140530	16590	4	T	A	A	53	53	TMEM144	A	4	4
ADAMTS16	170690	broad.mit.edu	37	5	5182171	5182171	+	Silent	SNP	A	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5182171A>T	uc003jdl.2	+	4	654	c.516A>T	c.(514-516)CGA>CGT	p.R172R	ADAMTS16_uc003jdk.1_Silent_p.R172R|ADAMTS16_uc003jdj.1_Silent_p.R172R	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1	172					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1)	8																		---	---	---	---	capture		Silent	SNP	5182171	5182171	262	5	A	T	T	9	9	ADAMTS16	T	4	4
RNASEN	29102	broad.mit.edu	37	5	31526873	31526873	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31526873G>T	uc003jhg.2	-	4	526	c.167C>A	c.(166-168)CCA>CAA	p.P56Q	RNASEN_uc003jhh.2_Missense_Mutation_p.P56Q|RNASEN_uc003jhi.2_Missense_Mutation_p.P56Q|RNASEN_uc010iui.1_Missense_Mutation_p.P47Q	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	56	Pro-rich.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31526873	31526873	13894	5	G	T	T	47	47	RNASEN	T	2	2
ADAMTS12	81792	broad.mit.edu	37	5	33534964	33534964	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33534964T>A	uc003jia.1	-	23	4743	c.4580A>T	c.(4579-4581)AAC>ATC	p.N1527I	ADAMTS12_uc010iuq.1_Missense_Mutation_p.N1442I	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1527	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9															HNSCC(64;0.19)			---	---	---	---	capture		Missense_Mutation	SNP	33534964	33534964	258	5	T	A	A	60	60	ADAMTS12	A	4	4
LMBRD2	92255	broad.mit.edu	37	5	36143415	36143415	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36143415C>A	uc003jkb.1	-	2	452	c.37G>T	c.(37-39)GTC>TTC	p.V13F		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	13	Helical; (Potential).					integral to membrane					0	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36143415	36143415	9172	5	C	A	A	17	17	LMBRD2	A	2	2
CARD6	84674	broad.mit.edu	37	5	40852859	40852859	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40852859C>T	uc003jmg.2	+	3	1500	c.1425C>T	c.(1423-1425)CTC>CTT	p.L475L		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	475					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	40852859	40852859	2769	5	C	T	T	29	29	CARD6	T	2	2
PLCXD3	345557	broad.mit.edu	37	5	41382440	41382440	+	Silent	SNP	G	T	T	rs146343766		TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41382440G>T	uc003jmm.1	-	2	402	c.300C>A	c.(298-300)TCC>TCA	p.S100S		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	100	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.S100S(1)		skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6																		---	---	---	---	capture		Silent	SNP	41382440	41382440	12469	5	G	T	T	47	47	PLCXD3	T	2	2
NNT	23530	broad.mit.edu	37	5	43650653	43650653	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43650653G>T	uc003joe.2	+	12	1936	c.1681G>T	c.(1681-1683)GCT>TCT	p.A561S	NNT_uc003jof.2_Missense_Mutation_p.A561S	NM_012343	NP_036475	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	561	Helical; (Potential).				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(6;2.58e-06)				NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	43650653	43650653	10913	5	G	T	T	46	46	NNT	T	2	2
DMXL1	1657	broad.mit.edu	37	5	118529647	118529647	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118529647C>G	uc003ksd.2	+	30	7620	c.7439C>G	c.(7438-7440)TCT>TGT	p.S2480C	DMXL1_uc010jcl.1_Missense_Mutation_p.S2480C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2480										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)														---	---	---	---	capture		Missense_Mutation	SNP	118529647	118529647	4776	5	C	G	G	32	32	DMXL1	G	3	3
PHAX	51808	broad.mit.edu	37	5	125960471	125960471	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:125960471G>A	uc003kua.1	+	5	1142	c.1120G>A	c.(1120-1122)GAA>AAA	p.E374K		NM_032177	NP_115553	Q9H814	PHAX_HUMAN	RNA U, small nuclear RNA export adaptor	374					ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	125960471	125960471	12236	5	G	A	A	33	33	PHAX	A	2	2
CDC23	8697	broad.mit.edu	37	5	137527989	137527989	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137527989G>T	uc003lcl.2	-	11	1286	c.1255C>A	c.(1255-1257)CTT>ATT	p.L419I		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	419	TPR 7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---	capture		Missense_Mutation	SNP	137527989	137527989	3189	5	G	T	T	35	35	CDC23	T	2	2
SH3RF2	153769	broad.mit.edu	37	5	145393529	145393529	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145393529G>A	uc003lnt.2	+	5	1202	c.964G>A	c.(964-966)GAG>AAG	p.E322K	SH3RF2_uc011dbl.1_Missense_Mutation_p.E322K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	322							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	145393529	145393529	14751	5	G	A	A	33	33	SH3RF2	A	2	2
CLK4	57396	broad.mit.edu	37	5	178043908	178043908	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178043908C>G	uc003mjf.1	-	5	625	c.517G>C	c.(517-519)GTT>CTT	p.V173L	CLK4_uc003mjg.1_Missense_Mutation_p.V137L|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.V173L|CLK4_uc011dgh.1_5'UTR	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	173	ATP (By similarity).|Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)														---	---	---	---	capture		Missense_Mutation	SNP	178043908	178043908	3677	5	C	G	G	20	20	CLK4	G	3	3
CLK4	57396	broad.mit.edu	37	5	178043926	178043926	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178043926C>T	uc003mjf.1	-	5	607	c.499G>A	c.(499-501)GAA>AAA	p.E167K	CLK4_uc003mjg.1_Missense_Mutation_p.E131K|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.E167K|CLK4_uc011dgh.1_5'UTR	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	167	ATP (By similarity).|Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(1)	1	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)														---	---	---	---	capture		Missense_Mutation	SNP	178043926	178043926	3677	5	C	T	T	29	29	CLK4	T	2	2
HIST1H3B	8358	broad.mit.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26032069C>T	uc003nfs.1	-	1	220	c.220G>A	c.(220-222)GAA>AAA	p.E74K		NM_003537	NP_003528	P68431	H31_HUMAN	histone cluster 1, H3b	74					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	26032069	26032069	7441	6	C	T	T	32	32	HIST1H3B	T	2	2
BTN3A3	10384	broad.mit.edu	37	6	26452620	26452620	+	Missense_Mutation	SNP	G	A	A	rs144256388		TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26452620G>A	uc003nhz.2	+	11	1916	c.1736G>A	c.(1735-1737)CGC>CAC	p.R579H	BTN3A3_uc003nia.2_Missense_Mutation_p.R537H|BTN3A3_uc011dkn.1_Missense_Mutation_p.R530H	NM_006994	NP_008925	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3 isoform a	579	Cytoplasmic (Potential).					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	26452620	26452620	1598	6	G	A	A	38	38	BTN3A3	A	1	1
KIAA0240	23506	broad.mit.edu	37	6	42823596	42823596	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42823596G>T	uc003osn.1	+	9	2200	c.2049G>T	c.(2047-2049)GTG>GTT	p.V683V	KIAA0240_uc011duw.1_Silent_p.V683V|KIAA0240_uc003osp.1_Silent_p.V683V	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	683										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)															---	---	---	---	capture		Silent	SNP	42823596	42823596	8471	6	G	T	T	47	47	KIAA0240	T	2	2
PHF3	23469	broad.mit.edu	37	6	64395298	64395298	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64395298C>T	uc003pep.1	+	3	1701	c.1675C>T	c.(1675-1677)CAG>TAG	p.Q559*	PHF3_uc010kaf.1_Nonsense_Mutation_p.Q559*|PHF3_uc003pem.2_Nonsense_Mutation_p.Q512*|PHF3_uc010kag.1_Nonsense_Mutation_p.Q471*|PHF3_uc010kah.1_Nonsense_Mutation_p.Q373*|PHF3_uc003pen.2_Nonsense_Mutation_p.Q471*|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.2_Nonsense_Mutation_p.Q559*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	PHD finger protein 3	559					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---	capture		Nonsense_Mutation	SNP	64395298	64395298	12259	6	C	T	T	29	29	PHF3	T	5	2
MED23	9439	broad.mit.edu	37	6	131917168	131917168	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131917168G>T	uc003qcs.1	-	22	3088	c.2914C>A	c.(2914-2916)CAC>AAC	p.H972N	MED23_uc003qcq.2_Missense_Mutation_p.H978N|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.H613N	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	972					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---	capture		Missense_Mutation	SNP	131917168	131917168	9830	6	G	T	T	47	47	MED23	T	2	2
AHI1	54806	broad.mit.edu	37	6	135763839	135763839	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135763839G>T	uc003qgi.2	-	14	2177	c.1793C>A	c.(1792-1794)CCA>CAA	p.P598Q	AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Missense_Mutation_p.P48Q|AHI1_uc003qgh.2_Missense_Mutation_p.P598Q|AHI1_uc003qgj.2_Missense_Mutation_p.P598Q|AHI1_uc003qgk.3_Intron|AHI1_uc003qgl.3_Missense_Mutation_p.P598Q	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN	Abelson helper integration site 1 isoform a	598						adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---	capture		Missense_Mutation	SNP	135763839	135763839	416	6	G	T	T	47	47	AHI1	T	2	2
C7orf31	136895	broad.mit.edu	37	7	25176259	25176259	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:25176259T>C	uc003sxn.1	-	10	1666	c.1105A>G	c.(1105-1107)ACC>GCC	p.T369A	C7orf31_uc003sxm.1_Missense_Mutation_p.T211A	NM_138811	NP_620166	Q8N865	CG031_HUMAN	hypothetical protein LOC136895	369											0																		---	---	---	---	capture		Missense_Mutation	SNP	25176259	25176259	2494	7	T	C	C	57	57	C7orf31	C	4	4
CCDC129	223075	broad.mit.edu	37	7	31682731	31682731	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31682731C>A	uc003tcj.1	+	11	2740	c.1747C>A	c.(1747-1749)CCT>ACT	p.P583T	CCDC129_uc011kad.1_Missense_Mutation_p.P593T|CCDC129_uc003tci.1_Missense_Mutation_p.P434T|CCDC129_uc011kae.1_Missense_Mutation_p.P609T|CCDC129_uc003tck.1_Missense_Mutation_p.P491T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	583											0																		---	---	---	---	capture		Missense_Mutation	SNP	31682731	31682731	2884	7	C	A	A	26	26	CCDC129	A	2	2
ABCA13	154664	broad.mit.edu	37	7	48315064	48315064	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48315064A>T	uc003toq.2	+	17	5826	c.5801A>T	c.(5800-5802)CAA>CTA	p.Q1934L	ABCA13_uc010kyr.2_Missense_Mutation_p.Q1437L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	1934					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	48315064	48315064	32	7	A	T	T	5	5	ABCA13	T	4	4
POM121L12	285877	broad.mit.edu	37	7	53104213	53104213	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:53104213C>G	uc003tpz.2	+	1	865	c.849C>G	c.(847-849)TTC>TTG	p.F283L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	283											0																		---	---	---	---	capture		Missense_Mutation	SNP	53104213	53104213	12669	7	C	G	G	31	31	POM121L12	G	3	3
ADAM22	53616	broad.mit.edu	37	7	87800867	87800867	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87800867G>A	uc003ujn.2	+	26	2370	c.2291G>A	c.(2290-2292)CGA>CAA	p.R764Q	ADAM22_uc003ujk.1_Missense_Mutation_p.R764Q|ADAM22_uc003ujl.1_Missense_Mutation_p.R764Q|ADAM22_uc003ujm.2_Missense_Mutation_p.R764Q|ADAM22_uc003ujo.2_Missense_Mutation_p.R764Q|ADAM22_uc003ujp.1_Missense_Mutation_p.R816Q	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	764	Cytoplasmic (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---	capture		Missense_Mutation	SNP	87800867	87800867	245	7	G	A	A	37	37	ADAM22	A	1	1
NRCAM	4897	broad.mit.edu	37	7	107824715	107824715	+	Silent	SNP	T	C	C			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107824715T>C	uc003vfb.2	-	22	2745	c.2274A>G	c.(2272-2274)TCA>TCG	p.S758S	NRCAM_uc003vfc.2_Silent_p.S742S|NRCAM_uc011kmk.1_Silent_p.S753S|NRCAM_uc003vfd.2_Silent_p.S734S|NRCAM_uc003vfe.2_Silent_p.S734S	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule isoform A	758	Fibronectin type-III 2.|Extracellular (Potential).				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			ovary(3)|breast(2)	5																		---	---	---	---	capture		Silent	SNP	107824715	107824715	11049	7	T	C	C	55	55	NRCAM	C	4	4
CFTR	1080	broad.mit.edu	37	7	117180378	117180378	+	Missense_Mutation	SNP	T	C	C	rs76727851		TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:117180378T>C	uc003vjd.2	+	8	1226	c.1094T>C	c.(1093-1095)CTT>CCT	p.L365P	CFTR_uc011knq.1_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance	365	Cytoplasmic (Potential).|ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			central_nervous_system(2)|skin(2)|ovary(1)	5	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)									Cystic_Fibrosis				---	---	---	---	capture		Missense_Mutation	SNP	117180378	117180378	3427	7	T	C	C	56	56	CFTR	C	4	4
CADPS2	93664	broad.mit.edu	37	7	121985692	121985692	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121985692C>G	uc010lkp.2	-	27	3711	c.3548G>C	c.(3547-3549)CGG>CCG	p.R1183P	CADPS2_uc011knx.1_Missense_Mutation_p.R558P|CADPS2_uc003vkg.3_Missense_Mutation_p.R837P|CADPS2_uc010lkq.2_Missense_Mutation_p.R1142P	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1183					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	121985692	121985692	2687	7	C	G	G	23	23	CADPS2	G	3	3
SLC13A1	6561	broad.mit.edu	37	7	122755644	122755644	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122755644C>T	uc003vkm.2	-	15	1741	c.1716G>A	c.(1714-1716)TGG>TGA	p.W572*	SLC13A1_uc010lks.2_Nonsense_Mutation_p.W448*	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	572	Helical; (Potential).					integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)													---	---	---	---	capture		Nonsense_Mutation	SNP	122755644	122755644	14886	7	C	T	T	30	30	SLC13A1	T	5	2
SND1	27044	broad.mit.edu	37	7	127544839	127544839	+	Silent	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:127544839A>G	uc003vmi.2	+	14	1720	c.1494A>G	c.(1492-1494)GAA>GAG	p.E498E	SND1_uc010lle.2_Silent_p.E151E	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	staphylococcal nuclease domain containing 1	498					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Silent	SNP	127544839	127544839	15344	7	A	G	G	3	3	SND1	G	4	4
DENND2A	27147	broad.mit.edu	37	7	140255464	140255464	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140255464C>A	uc010lnj.2	-	10	2154	c.2009G>T	c.(2008-2010)CGC>CTC	p.R670L	DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.R670L|DENND2A_uc003vvw.2_Missense_Mutation_p.R670L|DENND2A_uc003vvx.2_Missense_Mutation_p.R670L	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	670	DENN.									ovary(3)|breast(1)	4	Melanoma(164;0.00956)																	---	---	---	---	capture		Missense_Mutation	SNP	140255464	140255464	4608	7	C	A	A	27	27	DENND2A	A	1	1
OR9A2	135924	broad.mit.edu	37	7	142723325	142723325	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:142723325C>A	uc003wcc.1	-	1	895	c.895G>T	c.(895-897)GAT>TAT	p.D299Y		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	Melanoma(164;0.059)																	---	---	---	---	capture		Missense_Mutation	SNP	142723325	142723325	11659	7	C	A	A	32	32	OR9A2	A	2	2
CSMD1	64478	broad.mit.edu	37	8	3257006	3257006	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3257006G>T	uc011kwk.1	-	16	2705	c.2315C>A	c.(2314-2316)CCT>CAT	p.P772H	CSMD1_uc011kwj.1_Missense_Mutation_p.P164H	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	772	Extracellular (Potential).|CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	3257006	3257006	4085	8	G	T	T	35	35	CSMD1	T	2	2
MSR1	4481	broad.mit.edu	37	8	15978098	15978098	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15978098G>T	uc003wwz.2	-	9	1249	c.1051C>A	c.(1051-1053)CGA>AGA	p.R351R	MSR1_uc010lsu.2_Silent_p.R369R|MSR1_uc003wxa.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	351	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)														---	---	---	---	capture		Silent	SNP	15978098	15978098	10279	8	G	T	T	37	37	MSR1	T	1	1
UNC5D	137970	broad.mit.edu	37	8	35608158	35608158	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35608158C>A	uc003xjr.1	+	13	2322	c.1994C>A	c.(1993-1995)GCG>GAG	p.A665E	UNC5D_uc003xjs.1_Missense_Mutation_p.A660E|UNC5D_uc003xju.1_Missense_Mutation_p.A241E	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	665	Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)														---	---	---	---	capture		Missense_Mutation	SNP	35608158	35608158	17553	8	C	A	A	27	27	UNC5D	A	1	1
CHRNA6	8973	broad.mit.edu	37	8	42611507	42611507	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42611507G>T	uc003xpj.2	-	5	881	c.835C>A	c.(835-837)CTG>ATG	p.L279M	CHRNA6_uc011lcw.1_Missense_Mutation_p.L264M	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6	279	Helical; (Potential).					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---	capture		Missense_Mutation	SNP	42611507	42611507	3521	8	G	T	T	35	35	CHRNA6	T	2	2
PRKDC	5591	broad.mit.edu	37	8	48824970	48824970	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48824970C>A	uc003xqi.2	-	25	2991	c.2934G>T	c.(2932-2934)CAG>CAT	p.Q978H	PRKDC_uc003xqj.2_Missense_Mutation_p.Q978H|PRKDC_uc011ldh.1_Missense_Mutation_p.Q978H	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	978					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)											NHEJ					---	---	---	---	capture		Missense_Mutation	SNP	48824970	48824970	12964	8	C	A	A	24	24	PRKDC	A	2	2
CHD7	55636	broad.mit.edu	37	8	61735123	61735123	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61735123C>T	uc003xue.2	+	12	3496	c.3019C>T	c.(3019-3021)CTC>TTC	p.L1007F	CHD7_uc003xuf.2_Missense_Mutation_p.L120F	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1007	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---	capture		Missense_Mutation	SNP	61735123	61735123	3464	8	C	T	T	32	32	CHD7	T	2	2
NCOA2	10499	broad.mit.edu	37	8	71078966	71078966	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71078966C>A	uc003xyn.1	-	7	727	c.565G>T	c.(565-567)GAA>TAA	p.E189*		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	189					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---	capture		Nonsense_Mutation	SNP	71078966	71078966	10628	8	C	A	A	31	31	NCOA2	A	5	1
ZFHX4	79776	broad.mit.edu	37	8	77763355	77763355	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77763355A>G	uc003yav.2	+	10	4450	c.4063A>G	c.(4063-4065)AAC>GAC	p.N1355D	ZFHX4_uc003yau.1_Missense_Mutation_p.N1400D|ZFHX4_uc003yaw.1_Missense_Mutation_p.N1355D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1355	C2H2-type 10.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77763355	77763355	18223	8	A	G	G	13	13	ZFHX4	G	4	4
RALYL	138046	broad.mit.edu	37	8	85785583	85785583	+	Silent	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:85785583C>T	uc003ycq.3	+	8	1052	c.636C>T	c.(634-636)TCC>TCT	p.S212S	RALYL_uc003ycr.3_Silent_p.S212S|RALYL_uc003ycs.3_Silent_p.S212S|RALYL_uc010lzy.2_Silent_p.S201S|RALYL_uc003yct.3_Silent_p.S225S|RALYL_uc003ycu.3_Silent_p.S139S|RALYL_uc003ycv.3_Silent_p.S124S	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like isoform 2	212	Potential.						identical protein binding|nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	85785583	85785583	13480	8	C	T	T	24	24	RALYL	T	2	2
SLC7A13	157724	broad.mit.edu	37	8	87235284	87235284	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87235284G>A	uc003ydq.1	-	2	832	c.734C>T	c.(733-735)GCG>GTG	p.A245V	SLC7A13_uc003ydr.1_Missense_Mutation_p.A236V	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	245	Helical; Name=7; (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	87235284	87235284	15192	8	G	A	A	38	38	SLC7A13	A	1	1
SLC26A7	115111	broad.mit.edu	37	8	92307881	92307881	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92307881C>T	uc003yex.2	+	5	705	c.427C>T	c.(427-429)CAA>TAA	p.Q143*	SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Nonsense_Mutation_p.Q143*|SLC26A7_uc003yfa.2_Nonsense_Mutation_p.Q143*	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	solute carrier family 26, member 7 isoform a	143	Extracellular (Potential).					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---	capture		Nonsense_Mutation	SNP	92307881	92307881	15019	8	C	T	T	25	25	SLC26A7	T	5	2
VPS13B	157680	broad.mit.edu	37	8	100847456	100847456	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100847456G>T	uc003yiv.2	+	53	9832	c.9721G>T	c.(9721-9723)GGA>TGA	p.G3241*	VPS13B_uc003yiw.2_Nonsense_Mutation_p.G3216*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	3241					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---	capture		Nonsense_Mutation	SNP	100847456	100847456	17757	8	G	T	T	39	39	VPS13B	T	5	1
RECQL4	9401	broad.mit.edu	37	8	145742501	145742501	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145742501C>A	uc003zdj.2	-	4	319	c.287G>T	c.(286-288)CGG>CTG	p.R96L	LRRC14_uc003zdk.1_5'Flank|LRRC14_uc003zdl.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	96					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)					N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	145742501	145742501	13671	8	C	A	A	23	23	RECQL4	A	1	1
GLDC	2731	broad.mit.edu	37	9	6540093	6540093	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6540093T>A	uc003zkc.2	-	22	2816	c.2623A>T	c.(2623-2625)AAT>TAT	p.N875Y		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	875					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	6540093	6540093	6701	9	T	A	A	64	64	GLDC	A	4	4
ACER2	340485	broad.mit.edu	37	9	19424709	19424709	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19424709G>A	uc003zny.1	+	3	393	c.235G>A	c.(235-237)GTC>ATC	p.V79I	ACER2_uc003znx.1_RNA|ACER2_uc003znz.1_Missense_Mutation_p.V30I	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	79	Helical; (Potential).				ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	19424709	19424709	140	9	G	A	A	40	40	ACER2	A	1	1
SLC24A2	25769	broad.mit.edu	37	9	19576937	19576937	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19576937C>A	uc003zoa.1	-	5	1275	c.1213G>T	c.(1213-1215)GCT>TCT	p.A405S	SLC24A2_uc003zob.1_Missense_Mutation_p.A388S	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	405	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)														---	---	---	---	capture		Missense_Mutation	SNP	19576937	19576937	14963	9	C	A	A	26	26	SLC24A2	A	2	2
C9orf79	286234	broad.mit.edu	37	9	90499950	90499950	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90499950A>T	uc004app.3	+	4	583	c.548A>T	c.(547-549)GAT>GTT	p.D183V	C9orf79_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	183	Pro-rich.					integral to membrane				ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	90499950	90499950	2613	9	A	T	T	12	12	C9orf79	T	4	4
SEMA4D	10507	broad.mit.edu	37	9	92006320	92006320	+	Silent	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:92006320G>A	uc004aqo.1	-	11	1205	c.633C>T	c.(631-633)TTC>TTT	p.F211F	SEMA4D_uc011ltm.1_Silent_p.F211F|SEMA4D_uc011ltn.1_RNA|SEMA4D_uc011lto.1_RNA|SEMA4D_uc004aqp.1_Silent_p.F209F	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	semaphorin 4D isoform 1	211	Sema.|Extracellular (Potential).				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Silent	SNP	92006320	92006320	14520	9	G	A	A	37	37	SEMA4D	A	1	1
KIAA1958	158405	broad.mit.edu	37	9	115337436	115337436	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115337436C>A	uc004bgf.1	+	2	1251	c.1076C>A	c.(1075-1077)CCC>CAC	p.P359H	KIAA1958_uc011lwx.1_Missense_Mutation_p.P359H	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	hypothetical protein LOC158405	359										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	115337436	115337436	8575	9	C	A	A	22	22	KIAA1958	A	2	2
KIF12	113220	broad.mit.edu	37	9	116857503	116857503	+	Silent	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116857503G>T	uc004bif.2	-	7	829	c.591C>A	c.(589-591)GTC>GTA	p.V197V	KIF12_uc004big.2_RNA	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	kinesin family member 12	330					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity				0																		---	---	---	---	capture		Silent	SNP	116857503	116857503	8584	9	G	T	T	45	45	KIF12	T	2	2
PHF19	26147	broad.mit.edu	37	9	123629244	123629244	+	Splice_Site	SNP	C	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123629244C>T	uc004bks.1	-	7	868	c.615_splice	c.e7-1	p.E205_splice	PHF19_uc011lyf.1_Splice_Site|PHF19_uc004bkr.2_Splice_Site	NM_015651	NP_056466			PHD finger protein 19 isoform a						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Splice_Site	SNP	123629244	123629244	12252	9	C	T	T	32	32	PHF19	T	5	2
DBH	1621	broad.mit.edu	37	9	136508547	136508547	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136508547G>A	uc004cel.2	+	4	766	c.757G>A	c.(757-759)GTC>ATC	p.V253I		NM_000787	NP_000778	P09172	DOPO_HUMAN	dopamine beta hydroxylase precursor	253	Intragranular (Potential).				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			ovary(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)													---	---	---	---	capture		Missense_Mutation	SNP	136508547	136508547	4421	9	G	A	A	40	40	DBH	A	1	1
MXRA5	25878	broad.mit.edu	37	X	3248704	3248704	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3248704C>A	uc004crg.3	-	3	456	c.299G>T	c.(298-300)AGA>ATA	p.R100I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	100	LRR 2.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---	capture		Missense_Mutation	SNP	3248704	3248704	10397	23	C	A	A	32	32	MXRA5	A	2	2
ZNF182	7569	broad.mit.edu	37	X	47835791	47835791	+	Silent	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47835791C>A	uc004dir.2	-	7	2041	c.1695G>T	c.(1693-1695)ACG>ACT	p.T565T	ZNF182_uc004dis.2_Silent_p.T546T|ZNF182_uc004dit.2_Silent_p.T565T|ZNF182_uc011mlu.1_Silent_p.T545T	NM_006962	NP_008893	P17025	ZN182_HUMAN	zinc finger protein 21 isoform 1	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3																		---	---	---	---	capture		Silent	SNP	47835791	47835791	18341	23	C	A	A	23	23	ZNF182	A	1	1
ZNF711	7552	broad.mit.edu	37	X	84526736	84526736	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:84526736G>A	uc004eeo.2	+	9	2535	c.2188G>A	c.(2188-2190)GAC>AAC	p.D730N	ZNF711_uc004eep.2_Missense_Mutation_p.D730N|ZNF711_uc004eeq.2_Missense_Mutation_p.D776N|ZNF711_uc011mqy.1_Missense_Mutation_p.D329N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	zinc finger protein 711	730					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	84526736	84526736	18712	23	G	A	A	33	33	ZNF711	A	2	2
COL4A6	1288	broad.mit.edu	37	X	107406157	107406157	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107406157C>A	uc004enw.3	-	41	4287	c.4184G>T	c.(4183-4185)GGG>GTG	p.G1395V	COL4A6_uc004env.3_Missense_Mutation_p.G1394V|COL4A6_uc011msn.1_Missense_Mutation_p.G1370V|COL4A6_uc010npk.2_Missense_Mutation_p.G1337V|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_5'UTR	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1395	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8														Alport_syndrome_with_Diffuse_Leiomyomatosis				---	---	---	---	capture		Missense_Mutation	SNP	107406157	107406157	3833	23	C	A	A	22	22	COL4A6	A	2	2
ALG13	79868	broad.mit.edu	37	X	110970887	110970887	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3415-01	TCGA-18-3415-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110970887G>T	uc011msy.1	+	18	2170	c.2136G>T	c.(2134-2136)GAG>GAT	p.E712D	ALG13_uc011msx.1_Missense_Mutation_p.E608D|ALG13_uc011msz.1_Missense_Mutation_p.E634D|ALG13_uc011mta.1_Missense_Mutation_p.E608D|ALG13_uc011mtb.1_Missense_Mutation_p.E608D			Q9NP73	ALG13_HUMAN	SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae);	712					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	110970887	110970887	518	23	G	T	T	36	36	ALG13	T	2	2
