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
CDC42BPA	8476	broad.mit.edu	37	1	227400857	227400857	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227400857delC	uc001hqr.2	-	3	1277	c.334delG	c.(334-336)GAAfs	p.E112fs	CDC42BPA_uc001hqs.2_Frame_Shift_Del_p.E112fs|CDC42BPA_uc009xes.2_Frame_Shift_Del_p.E112fs|CDC42BPA_uc010pvs.1_Frame_Shift_Del_p.E112fs	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	CDC42-binding protein kinase alpha isoform B	112	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11		all_cancers(173;0.156)|Prostate(94;0.0792)																---	---	---	---	capture_indel		Frame_Shift_Del	DEL	227400857	227400857	3200	1	C	-	-	30	30	CDC42BPA	-	5	5
SCARF1	8578	broad.mit.edu	37	17	1538677	1538678	+	Frame_Shift_Ins	INS	-	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1538677_1538678insT	uc002fsz.1	-	11	1917_1918	c.1867_1868insA	c.(1867-1869)GCGfs	p.A623fs	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Frame_Shift_Ins_p.A537fs	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	623	Gly-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---	capture_indel		Frame_Shift_Ins	INS	1538677	1538678	14364	17	-	T	T	38	38	SCARF1	T	5	5
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Frame_Shift_Del	DEL	C	-	-	rs28934572		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577550delC	uc002gim.2	-	7	925	c.731delG	c.(730-732)GGCfs	p.G244fs	TP53_uc002gig.1_Frame_Shift_Del_p.G244fs|TP53_uc002gih.2_Frame_Shift_Del_p.G244fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.G112fs|TP53_uc010cng.1_Frame_Shift_Del_p.G112fs|TP53_uc002gii.1_Frame_Shift_Del_p.G112fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G244fs|TP53_uc010cni.1_Frame_Shift_Del_p.G244fs|TP53_uc002gij.2_Frame_Shift_Del_p.G244fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Del_p.G151fs|TP53_uc002gio.2_Frame_Shift_Del_p.G112fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	244	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244S(35)|p.G244C(34)|p.G244D(32)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.0?(7)|p.G244fs*3(5)|p.G244R(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.C238_M246delCNSSCMGGM(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture_indel		Frame_Shift_Del	DEL	7577550	7577550	16923	17	C	-	-	26	26	TP53	-	5	5
COL22A1	169044	broad.mit.edu	37	8	139635985	139635985	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139635985delG	uc003yvd.2	-	52	4208	c.3761delC	c.(3760-3762)CCTfs	p.P1254fs	COL22A1_uc011ljo.1_Frame_Shift_Del_p.P534fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1254	Pro-rich.|Gly-rich.|Collagen-like 12.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---	capture_indel		Frame_Shift_Del	DEL	139635985	139635985	3819	8	G	-	-	35	35	COL22A1	-	5	5
AGRN	375790	broad.mit.edu	37	1	977425	977425	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:977425G>T	uc001ack.1	+	7	1317	c.1267G>T	c.(1267-1269)GGG>TGG	p.G423W		NM_198576	NP_940978	O00468	AGRIN_HUMAN	agrin precursor	423	Kazal-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			central_nervous_system(2)|breast(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)														---	---	---	---	capture		Missense_Mutation	SNP	977425	977425	400	1	G	T	T	39	39	AGRN	T	1	1
CCNL2	81669	broad.mit.edu	37	1	1325625	1325625	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1325625G>C	uc001afi.2	-	8	1023	c.991C>G	c.(991-993)CCT>GCT	p.P331A	CCNL2_uc010nym.1_RNA|CCNL2_uc001aff.1_Missense_Mutation_p.P109A|CCNL2_uc001afg.1_Missense_Mutation_p.P109A|CCNL2_uc001afh.2_3'UTR|CCNL2_uc001afj.2_3'UTR|CCNL2_uc001afk.2_3'UTR	NM_030937	NP_112199	Q96S94	CCNL2_HUMAN	cyclin L2 isoform A	331					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)														---	---	---	---	capture		Missense_Mutation	SNP	1325625	1325625	3059	1	G	C	C	41	41	CCNL2	C	3	3
CDK11A	728642	broad.mit.edu	37	1	1636454	1636454	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1636454C>A	uc009vks.2	-	13	1455	c.1347G>T	c.(1345-1347)GTG>GTT	p.V449V	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Silent_p.V66V|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Silent_p.V439V|CDK11A_uc010nys.1_Silent_p.V439V|CDK11A_uc010nyt.1_Silent_p.V449V	NM_024011	NP_076916	Q9UQ88	CD11A_HUMAN	cell division cycle 2-like 2 isoform 1	452	Protein kinase.				apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			stomach(1)	1																		---	---	---	---	capture		Silent	SNP	1636454	1636454	3255	1	C	A	A	21	21	CDK11A	A	2	2
CHD5	26038	broad.mit.edu	37	1	6206373	6206373	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6206373C>A	uc001amb.1	-	11	1801	c.1701G>T	c.(1699-1701)AAG>AAT	p.K567N	CHD5_uc001ama.1_5'Flank|CHD5_uc001amc.1_RNA	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	567					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)														---	---	---	---	capture		Missense_Mutation	SNP	6206373	6206373	3462	1	C	A	A	32	32	CHD5	A	2	2
PLEKHG5	57449	broad.mit.edu	37	1	6556583	6556583	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6556583G>T	uc001ano.1	-	2	152	c.51C>A	c.(49-51)CCC>CCA	p.P17P	PLEKHG5_uc001ann.1_5'UTR|PLEKHG5_uc001anq.1_Silent_p.P38P|PLEKHG5_uc001anp.1_Silent_p.P38P	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN	pleckstrin homology domain containing family G	17					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	capture		Silent	SNP	6556583	6556583	12499	1	G	T	T	39	39	PLEKHG5	T	1	1
TNFRSF9	3604	broad.mit.edu	37	1	7995201	7995201	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7995201C>A	uc001aot.2	-	6	544	c.416G>T	c.(415-417)TGT>TTT	p.C139F		NM_001561	NP_001552	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily,	139	Extracellular (Potential).|TNFR-Cys 4.				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	7995201	7995201	16841	1	C	A	A	17	17	TNFRSF9	A	2	2
ERRFI1	54206	broad.mit.edu	37	1	8073503	8073503	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8073503C>A	uc001aoz.2	-	4	1405	c.1156G>T	c.(1156-1158)GGG>TGG	p.G386W	ERRFI1_uc001apa.1_Missense_Mutation_p.G311W	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	mitogen-inducible gene 6 protein	386					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			ovary(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---	capture		Missense_Mutation	SNP	8073503	8073503	5437	1	C	A	A	21	21	ERRFI1	A	2	2
UBE4B	10277	broad.mit.edu	37	1	10189480	10189480	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10189480G>T	uc001aqs.3	+	12	2382	c.1669G>T	c.(1669-1671)GGG>TGG	p.G557W	UBE4B_uc001aqr.3_Missense_Mutation_p.G428W|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.G12W|UBE4B_uc001aqt.1_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	557					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---	capture		Missense_Mutation	SNP	10189480	10189480	17441	1	G	T	T	47	47	UBE4B	T	2	2
PTCHD2	57540	broad.mit.edu	37	1	11589653	11589653	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11589653G>C	uc001ash.3	+	14	2977	c.2839G>C	c.(2839-2841)GGG>CGG	p.G947R		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	947	Extracellular (Potential).				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			skin(3)|ovary(2)|pancreas(1)|breast(1)	7	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)														---	---	---	---	capture		Missense_Mutation	SNP	11589653	11589653	13187	1	G	C	C	39	39	PTCHD2	C	3	3
SPEN	23013	broad.mit.edu	37	1	16235888	16235888	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16235888C>A	uc001axk.1	+	4	1158	c.954C>A	c.(952-954)CCC>CCA	p.P318P	SPEN_uc010obp.1_Silent_p.P277P	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	318	Ser-rich.|By similarity.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---	capture		Silent	SNP	16235888	16235888	15550	1	C	A	A	21	21	SPEN	A	2	2
MUL1	79594	broad.mit.edu	37	1	20827489	20827489	+	Silent	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20827489T>A	uc001bdi.3	-	4	910	c.753A>T	c.(751-753)ACA>ACT	p.T251T		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	mitochondrial ubiquitin ligase activator of NFKB	251	Helical; (Potential).				activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)														---	---	---	---	capture		Silent	SNP	20827489	20827489	10378	1	T	A	A	51	51	MUL1	A	4	4
EPHB2	2048	broad.mit.edu	37	1	23236992	23236992	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23236992G>A	uc009vqj.1	+	14	2765	c.2620G>A	c.(2620-2622)GGC>AGC	p.G874S	EPHB2_uc001bge.2_Missense_Mutation_p.G875S|EPHB2_uc001bgf.2_Missense_Mutation_p.G874S|EPHB2_uc010odu.1_Missense_Mutation_p.G816S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	874	Cytoplasmic (Potential).|Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---	capture		Missense_Mutation	SNP	23236992	23236992	5368	1	G	A	A	39	39	EPHB2	A	1	1
ASAP3	55616	broad.mit.edu	37	1	23763444	23763444	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23763444T>A	uc001bha.2	-	15	1560	c.1436A>T	c.(1435-1437)CAG>CTG	p.Q479L	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_RNA|ASAP3_uc010odz.1_Missense_Mutation_p.Q348L|ASAP3_uc010oea.1_Missense_Mutation_p.Q470L|ASAP3_uc001bhb.2_Missense_Mutation_p.Q2L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	479	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	23763444	23763444	1030	1	T	A	A	55	55	ASAP3	A	4	4
HMGCL	3155	broad.mit.edu	37	1	24143192	24143192	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24143192G>T	uc001bib.2	-	4	365	c.321C>A	c.(319-321)ACC>ACA	p.T107T	HMGCL_uc010oec.1_Silent_p.T107T|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.T82T|HMGCL_uc009vqs.1_Silent_p.T107T|HMGCL_uc001bid.1_Silent_p.T107T	NM_000191	NP_000182	P35914	HMGCL_HUMAN	3-hydroxy-3-methylglutaryl CoA lyase isoform 1	107					acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)														---	---	---	---	capture		Silent	SNP	24143192	24143192	7520	1	G	T	T	43	43	HMGCL	T	2	2
MYOM3	127294	broad.mit.edu	37	1	24418729	24418729	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24418729G>T	uc001bin.3	-	11	1330	c.1167C>A	c.(1165-1167)CTC>CTA	p.L389L	MYOM3_uc001bim.3_Silent_p.L46L|MYOM3_uc001bio.2_Silent_p.L389L|MYOM3_uc001bip.1_Silent_p.L46L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	389	Fibronectin type-III 1.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---	capture		Silent	SNP	24418729	24418729	10488	1	G	T	T	45	45	MYOM3	T	2	2
COL16A1	1307	broad.mit.edu	37	1	32138087	32138087	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32138087C>A	uc001btk.1	-	47	3400	c.3035G>T	c.(3034-3036)GGA>GTA	p.G1012V	COL16A1_uc001bti.1_5'Flank|COL16A1_uc001btj.1_Missense_Mutation_p.G825V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	alpha 1 type XVI collagen precursor	1012	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			ovary(8)	8		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)														---	---	---	---	capture		Missense_Mutation	SNP	32138087	32138087	3811	1	C	A	A	30	30	COL16A1	A	2	2
C1orf94	84970	broad.mit.edu	37	1	34667845	34667845	+	Silent	SNP	C	A	A	rs114850350	by1000genomes	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34667845C>A	uc001bxs.3	+	4	1260	c.861C>A	c.(859-861)ACC>ACA	p.T287T	C1orf94_uc001bxt.2_Silent_p.T477T	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	287							protein binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Silent	SNP	34667845	34667845	2147	1	C	A	A	24	24	C1orf94	A	2	2
MAP7D1	55700	broad.mit.edu	37	1	36636743	36636743	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36636743G>T	uc001bzz.2	+	2	434	c.218G>T	c.(217-219)GGG>GTG	p.G73V	MAP7D1_uc001caa.2_Missense_Mutation_p.G73V|MAP7D1_uc001cab.2_Missense_Mutation_p.G73V|MAP7D1_uc001cac.2_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	73	Pro-rich.					cytoplasm|spindle				ovary(3)|breast(2)	5		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Missense_Mutation	SNP	36636743	36636743	9650	1	G	T	T	43	43	MAP7D1	T	2	2
MTF1	4520	broad.mit.edu	37	1	38323190	38323190	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38323190G>T	uc001cce.1	-	2	282	c.141C>A	c.(139-141)ACC>ACA	p.T47T	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	47						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)																---	---	---	---	capture		Silent	SNP	38323190	38323190	10315	1	G	T	T	47	47	MTF1	T	2	2
MACF1	23499	broad.mit.edu	37	1	39844973	39844973	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39844973C>A	uc010oiu.1	+	18	8826	c.8695C>A	c.(8695-8697)CTC>ATC	p.L2899I	MACF1_uc010ois.1_Missense_Mutation_p.L2397I|MACF1_uc001cda.1_Missense_Mutation_p.L2284I|MACF1_uc001cdc.1_Missense_Mutation_p.L1463I	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	4464					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)															---	---	---	---	capture		Missense_Mutation	SNP	39844973	39844973	9521	1	C	A	A	24	24	MACF1	A	2	2
LEPRE1	64175	broad.mit.edu	37	1	43228099	43228099	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43228099C>A	uc001chv.2	-	2	626	c.513G>T	c.(511-513)GTG>GTT	p.V171V	LEPRE1_uc001chw.2_Silent_p.V171V|LEPRE1_uc001chx.3_Silent_p.V171V|LEPRE1_uc001chy.3_Silent_p.V171V	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	171	TPR 2.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---	capture		Silent	SNP	43228099	43228099	9053	1	C	A	A	21	21	LEPRE1	A	2	2
AKR1A1	10327	broad.mit.edu	37	1	46034829	46034829	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46034829C>A	uc001cod.2	+	9	1304	c.840C>A	c.(838-840)ACC>ACA	p.T280T	AKR1A1_uc001coe.2_Silent_p.T280T|AKR1A1_uc001cof.2_Silent_p.T86T|AKR1A1_uc001cog.2_RNA	NM_006066	NP_006057	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1	280					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Silent	SNP	46034829	46034829	468	1	C	A	A	24	24	AKR1A1	A	2	2
GPBP1L1	60313	broad.mit.edu	37	1	46120964	46120964	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46120964C>A	uc001coq.2	-	5	1449	c.88G>T	c.(88-90)GGA>TGA	p.G30*		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Nonsense_Mutation	SNP	46120964	46120964	6870	1	C	A	A	23	23	GPBP1L1	A	5	1
FAF1	11124	broad.mit.edu	37	1	50957443	50957443	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:50957443T>C	uc009vyx.1	-	17	1588	c.1525A>G	c.(1525-1527)AGA>GGA	p.R509G	FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.R509G|FAF1_uc010onc.1_Missense_Mutation_p.R267G	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	FAS-associated factor 1	509					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			ovary(1)|pancreas(1)	2				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)														---	---	---	---	capture		Missense_Mutation	SNP	50957443	50957443	5566	1	T	C	C	54	54	FAF1	C	4	4
OSBPL9	114883	broad.mit.edu	37	1	52227609	52227609	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52227609G>T	uc001cst.2	+	11	763	c.744G>T	c.(742-744)TTG>TTT	p.L248F	OSBPL9_uc001css.2_Missense_Mutation_p.L253F|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.L249F|OSBPL9_uc001csu.2_Missense_Mutation_p.L258F|OSBPL9_uc001csv.2_Missense_Mutation_p.L83F|OSBPL9_uc001csw.2_Missense_Mutation_p.L235F|OSBPL9_uc001csy.2_Missense_Mutation_p.L70F|OSBPL9_uc001csz.2_Missense_Mutation_p.L70F|OSBPL9_uc001cta.2_Missense_Mutation_p.L138F|OSBPL9_uc001ctb.2_Missense_Mutation_p.L33F	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	248					lipid transport		lipid binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	52227609	52227609	11695	1	G	T	T	47	47	OSBPL9	T	2	2
CC2D1B	200014	broad.mit.edu	37	1	52821867	52821867	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52821867T>G	uc001ctq.1	-	18	2201	c.2063A>C	c.(2062-2064)CAG>CCG	p.Q688P	CC2D1B_uc001ctr.2_Missense_Mutation_p.Q228P|CC2D1B_uc001cts.2_Missense_Mutation_p.Q373P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	688	C2.									ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	52821867	52821867	2847	1	T	G	G	55	55	CC2D1B	G	4	4
C8A	731	broad.mit.edu	37	1	57333307	57333307	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57333307G>A	uc001cyo.2	+	2	235	c.103G>A	c.(103-105)GCA>ACA	p.A35T		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	35					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	57333307	57333307	2525	1	G	A	A	38	38	C8A	A	1	1
C8A	731	broad.mit.edu	37	1	57378134	57378134	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57378134G>T	uc001cyo.2	+	10	1571	c.1439G>T	c.(1438-1440)CGC>CTC	p.R480L		NM_000562	NP_000553	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	480	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	57378134	57378134	2525	1	G	T	T	38	38	C8A	T	1	1
HOOK1	51361	broad.mit.edu	37	1	60325921	60325921	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60325921G>T	uc009wad.2	+	16	1555	c.1453G>T	c.(1453-1455)GAG>TAG	p.E485*	HOOK1_uc001czo.2_Nonsense_Mutation_p.E485*|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Nonsense_Mutation_p.E443*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	485	Sufficient for interaction with microtubules.|Potential.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---	capture		Nonsense_Mutation	SNP	60325921	60325921	7574	1	G	T	T	45	45	HOOK1	T	5	2
NFIA	4774	broad.mit.edu	37	1	61554058	61554058	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:61554058G>T	uc001czw.2	+	2	749	c.265G>T	c.(265-267)GAG>TAG	p.E89*	NFIA_uc001czy.2_Nonsense_Mutation_p.E81*|NFIA_uc010oos.1_Nonsense_Mutation_p.E134*|NFIA_uc001czv.2_Nonsense_Mutation_p.E89*	NM_001134673	NP_001128145	Q12857	NFIA_HUMAN	nuclear factor I/A isoform 1	89	CTF/NF-I.				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			pancreas(1)|skin(1)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	61554058	61554058	10770	1	G	T	T	33	33	NFIA	T	5	2
L1TD1	54596	broad.mit.edu	37	1	62675520	62675520	+	Silent	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62675520A>T	uc001dae.3	+	4	1376	c.1074A>T	c.(1072-1074)CTA>CTT	p.L358L		NM_019079	NP_061952	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	358										ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	62675520	62675520	8912	1	A	T	T	16	16	L1TD1	T	4	4
PDE4B	5142	broad.mit.edu	37	1	66379032	66379032	+	Missense_Mutation	SNP	C	G	G	rs12038033		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66379032C>G	uc001dcn.2	+	2	226	c.35C>G	c.(34-36)GCT>GGT	p.A12G	PDE4B_uc009war.2_5'UTR|PDE4B_uc001dco.2_Missense_Mutation_p.A12G	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN	phosphodiesterase 4B isoform 1	12					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	66379032	66379032	12061	1	C	G	G	28	28	PDE4B	G	3	3
WLS	79971	broad.mit.edu	37	1	68624809	68624809	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:68624809G>T	uc001def.1	-	3	772	c.501C>A	c.(499-501)CCC>CCA	p.P167P	uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Silent_p.P165P|WLS_uc001deg.1_Silent_p.P76P|WLS_uc009wbf.1_Silent_p.P122P	NM_024911	NP_079187	Q5T9L3	WLS_HUMAN	G protein-coupled receptor 177 isoform 1	167	Lumenal (Potential).|Interacts with Wnt proteins (By similarity).				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity				0																		---	---	---	---	capture		Silent	SNP	68624809	68624809	17950	1	G	T	T	47	47	WLS	T	2	2
LRRC7	57554	broad.mit.edu	37	1	70494035	70494035	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70494035C>A	uc001dep.2	+	16	1892	c.1862C>A	c.(1861-1863)CCA>CAA	p.P621Q	LRRC7_uc009wbg.2_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	621						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	70494035	70494035	9396	1	C	A	A	21	21	LRRC7	A	2	2
C1orf173	127254	broad.mit.edu	37	1	75037158	75037158	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75037158C>T	uc001dgg.2	-	14	4455	c.4236G>A	c.(4234-4236)GGG>GGA	p.G1412G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	1412	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Silent	SNP	75037158	75037158	2081	1	C	T	T	22	22	C1orf173	T	2	2
C1orf173	127254	broad.mit.edu	37	1	75065401	75065401	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75065401A>C	uc001dgg.2	-	11	1923	c.1704T>G	c.(1702-1704)AGT>AGG	p.S568R	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.S362R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	568	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	75065401	75065401	2081	1	A	C	C	6	6	C1orf173	C	4	4
C1orf173	127254	broad.mit.edu	37	1	75107029	75107029	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75107029T>A	uc001dgg.2	-	5	649	c.430A>T	c.(430-432)AGT>TGT	p.S144C		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	144										ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	75107029	75107029	2081	1	T	A	A	55	55	C1orf173	A	4	4
ZZZ3	26009	broad.mit.edu	37	1	78097971	78097971	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78097971C>A	uc001dhq.2	-	5	1545	c.1069G>T	c.(1069-1071)GTT>TTT	p.V357F	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.V357F|ZZZ3_uc001dhp.2_Missense_Mutation_p.V357F	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	78097971	78097971	18862	1	C	A	A	17	17	ZZZ3	A	2	2
NEXN	91624	broad.mit.edu	37	1	78383820	78383820	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78383820G>T	uc001dic.3	+	5	606	c.309G>T	c.(307-309)AAG>AAT	p.K103N	NEXN_uc001dia.3_Missense_Mutation_p.K103N|NEXN_uc009wcb.1_Missense_Mutation_p.K39N|NEXN_uc001dib.3_Missense_Mutation_p.K39N|NEXN_uc001did.1_Missense_Mutation_p.K27N|NEXN_uc001dif.1_Translation_Start_Site	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	103	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			ovary(2)	2				Colorectal(170;0.114)														---	---	---	---	capture		Missense_Mutation	SNP	78383820	78383820	10755	1	G	T	T	35	35	NEXN	T	2	2
CLCA1	1179	broad.mit.edu	37	1	86951108	86951108	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86951108G>T	uc001dlt.2	+	6	947	c.818G>T	c.(817-819)TGG>TTG	p.W273L	CLCA1_uc001dls.1_Missense_Mutation_p.W212L	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	chloride channel accessory 1 precursor	273					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			ovary(1)	1		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)														---	---	---	---	capture		Missense_Mutation	SNP	86951108	86951108	3593	1	G	T	T	47	47	CLCA1	T	2	2
CCBL2	56267	broad.mit.edu	37	1	89414865	89414865	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89414865T>A	uc001dmp.2	-	11	1427	c.1050A>T	c.(1048-1050)AGA>AGT	p.R350S	CCBL2_uc001dmq.2_Missense_Mutation_p.R316S|CCBL2_uc001dmr.2_Missense_Mutation_p.R186S	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	350					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	89414865	89414865	2853	1	T	A	A	54	54	CCBL2	A	4	4
GBP1	2633	broad.mit.edu	37	1	89523674	89523674	+	Splice_Site	SNP	C	T	T	rs139189718	byFrequency	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89523674C>T	uc001dmx.2	-	6	1094	c.874_splice	c.e6+1	p.R292_splice		NM_002053	NP_002044			guanylate binding protein 1,						interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			ovary(1)|skin(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)														---	---	---	---	capture		Splice_Site	SNP	89523674	89523674	6539	1	C	T	T	19	19	GBP1	T	5	1
EVI5	7813	broad.mit.edu	37	1	93070917	93070917	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93070917T>C	uc001dox.2	-	16	1979	c.1969A>G	c.(1969-1971)AGC>GGC	p.S657G	EVI5_uc010otf.1_Missense_Mutation_p.S668G|EVI5_uc001doy.1_RNA	NM_005665	NP_005656	O60447	EVI5_HUMAN	ecotropic viral integration site 5	657	Targeting to the centrosomes.|Potential.|Dimerization.|Interaction with AURKB and INCENP.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)														---	---	---	---	capture		Missense_Mutation	SNP	93070917	93070917	5482	1	T	C	C	53	53	EVI5	C	4	4
MTF2	22823	broad.mit.edu	37	1	93602335	93602335	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93602335G>T	uc009wdj.2	+	15	1825	c.1533G>T	c.(1531-1533)CAG>CAT	p.Q511H	MTF2_uc010oth.1_Missense_Mutation_p.Q409H|MTF2_uc009wdk.2_Missense_Mutation_p.Q454H|MTF2_uc001dpi.3_Missense_Mutation_p.Q238H|MTF2_uc010oti.1_Missense_Mutation_p.Q409H|MTF2_uc001dpj.3_Missense_Mutation_p.Q409H|MTF2_uc001dpl.3_Missense_Mutation_p.Q409H|MTF2_uc001dpm.3_Missense_Mutation_p.Q180H	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	511						nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)														---	---	---	---	capture		Missense_Mutation	SNP	93602335	93602335	10316	1	G	T	T	33	33	MTF2	T	2	2
DPH5	51611	broad.mit.edu	37	1	101460686	101460686	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101460686C>A	uc001dts.2	-	6	657	c.510G>T	c.(508-510)CAG>CAT	p.Q170H	DPH5_uc001dtr.2_Missense_Mutation_p.Q170H|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Missense_Mutation_p.Q170H|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Missense_Mutation_p.Q170H|DPH5_uc001dty.2_Missense_Mutation_p.Q49H|DPH5_uc001dtz.2_RNA	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	diphthine synthase isoform a	170					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity				0		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)														---	---	---	---	capture		Missense_Mutation	SNP	101460686	101460686	4907	1	C	A	A	20	20	DPH5	A	2	2
PRMT6	55170	broad.mit.edu	37	1	107600083	107600083	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:107600083G>A	uc010ous.1	+	1	817	c.746G>A	c.(745-747)CGG>CAG	p.R249Q		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	249					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity				0		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)														---	---	---	---	capture		Missense_Mutation	SNP	107600083	107600083	12983	1	G	A	A	39	39	PRMT6	A	1	1
SLC25A24	29957	broad.mit.edu	37	1	108700228	108700228	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:108700228C>A	uc001dvn.3	-	5	739	c.525G>T	c.(523-525)GGG>GGT	p.G175G	SLC25A24_uc001dvm.2_Silent_p.G156G	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 member 24 isoform 1	175	Mitochondrial intermembrane (Potential).				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			ovary(1)	1		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)														---	---	---	---	capture		Silent	SNP	108700228	108700228	14984	1	C	A	A	22	22	SLC25A24	A	2	2
CTTNBP2NL	55917	broad.mit.edu	37	1	112999276	112999276	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112999276G>A	uc001ebx.2	+	6	1390	c.1162G>A	c.(1162-1164)GAG>AAG	p.E388K	CTTNBP2NL_uc001ebz.2_5'Flank	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	388						actin cytoskeleton	protein binding			central_nervous_system(2)|ovary(1)	3		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	112999276	112999276	4205	1	G	A	A	41	41	CTTNBP2NL	A	2	2
MOV10	4343	broad.mit.edu	37	1	113232188	113232188	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113232188C>A	uc001eck.2	+	4	763	c.493C>A	c.(493-495)CTC>ATC	p.L165I	MOV10_uc001ecl.2_Missense_Mutation_p.L165I|MOV10_uc001ecn.2_Missense_Mutation_p.L165I|MOV10_uc001ecm.2_Missense_Mutation_p.L105I|MOV10_uc009wgj.1_Missense_Mutation_p.L105I	NM_001130079	NP_001123551	Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog	165					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			ovary(4)|skin(1)	5	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)														---	---	---	---	capture		Missense_Mutation	SNP	113232188	113232188	10110	1	C	A	A	24	24	MOV10	A	2	2
PTPN22	26191	broad.mit.edu	37	1	114381218	114381218	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114381218C>A	uc001eds.2	-	12	1070	c.940G>T	c.(940-942)GAG>TAG	p.E314*	PTPN22_uc009wgq.2_Nonsense_Mutation_p.E259*|PTPN22_uc010owo.1_Nonsense_Mutation_p.E70*|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Nonsense_Mutation_p.E314*|PTPN22_uc009wgs.2_Nonsense_Mutation_p.E187*|PTPN22_uc001edu.2_Nonsense_Mutation_p.E314*	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	314					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Nonsense_Mutation	SNP	114381218	114381218	13244	1	C	A	A	29	29	PTPN22	A	5	2
TRIM33	51592	broad.mit.edu	37	1	114949569	114949569	+	Silent	SNP	A	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114949569A>C	uc001eew.2	-	14	2496	c.2412T>G	c.(2410-2412)GCT>GCG	p.A804A	TRIM33_uc010owr.1_Silent_p.A418A|TRIM33_uc010ows.1_Silent_p.A436A|TRIM33_uc001eex.2_Silent_p.A804A|TRIM33_uc001eey.1_5'UTR	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	804					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---	capture		Silent	SNP	114949569	114949569	17051	1	A	C	C	3	3	TRIM33	C	4	4
NBPF7	343505	broad.mit.edu	37	1	120386969	120386969	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:120386969C>T	uc010oxk.1	-	1	811	c.190G>A	c.(190-192)GTA>ATA	p.V64I		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	hypothetical protein LOC343505	64						cytoplasm				ovary(1)|skin(1)	2	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)												OREG0013730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	120386969	120386969	10597	1	C	T	T	17	17	NBPF7	T	2	2
PDE4DIP	9659	broad.mit.edu	37	1	144886153	144886153	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144886153C>T	uc001elw.3	-	23	3372	c.3081G>A	c.(3079-3081)CTG>CTA	p.L1027L	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1093L|PDE4DIP_uc001elv.3_Silent_p.L34L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	1027	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---	capture		Silent	SNP	144886153	144886153	12064	1	C	T	T	29	29	PDE4DIP	T	2	2
ACP6	51205	broad.mit.edu	37	1	147120111	147120111	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147120111G>T	uc001epr.2	-	9	1544	c.1080C>A	c.(1078-1080)ACC>ACA	p.T360T		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic precursor	360					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			ovary(4)	4	all_hematologic(923;0.0276)																	---	---	---	---	capture		Silent	SNP	147120111	147120111	166	1	G	T	T	47	47	ACP6	T	2	2
SV2A	9900	broad.mit.edu	37	1	149879602	149879602	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149879602G>T	uc001etg.2	-	9	2027	c.1536C>A	c.(1534-1536)TTC>TTA	p.F512L	SV2A_uc009wlk.2_5'Flank|SV2A_uc001eth.2_Missense_Mutation_p.F512L	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2	512	Extracellular (Potential).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			ovary(6)|pancreas(1)	7	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)													---	---	---	---	capture		Missense_Mutation	SNP	149879602	149879602	15937	1	G	T	T	45	45	SV2A	T	2	2
CA14	23632	broad.mit.edu	37	1	150234635	150234635	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150234635G>T	uc001etx.2	+	4	644	c.335G>T	c.(334-336)TGG>TTG	p.W112L		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV precursor	112	Extracellular (Potential).					integral to membrane	carbonate dehydratase activity|metal ion binding			ovary(1)	1	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---	capture		Missense_Mutation	SNP	150234635	150234635	2631	1	G	T	T	47	47	CA14	T	2	2
TCHHL1	126637	broad.mit.edu	37	1	152057617	152057617	+	Silent	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152057617A>T	uc001ezo.1	-	3	2606	c.2541T>A	c.(2539-2541)TCT>TCA	p.S847S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	847							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---	capture		Silent	SNP	152057617	152057617	16227	1	A	T	T	7	7	TCHHL1	T	4	4
LCE2D	353141	broad.mit.edu	37	1	152636867	152636867	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152636867C>T	uc001fag.2	+	2	341	c.286C>T	c.(286-288)CCT>TCT	p.P96S		NM_178430	NP_848517	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	96	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	152636867	152636867	8991	1	C	T	T	18	18	LCE2D	T	2	2
NUP210L	91181	broad.mit.edu	37	1	153984787	153984787	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153984787G>T	uc001fdw.2	-	34	4785	c.4713C>A	c.(4711-4713)ACC>ACA	p.T1571T	NUP210L_uc009woq.2_Silent_p.T480T|NUP210L_uc010peh.1_Silent_p.T1571T	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	1571						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)															---	---	---	---	capture		Silent	SNP	153984787	153984787	11166	1	G	T	T	47	47	NUP210L	T	2	2
UBAP2L	9898	broad.mit.edu	37	1	154227746	154227746	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154227746G>T	uc001fep.3	+	17	2195	c.2028G>T	c.(2026-2028)TTG>TTT	p.L676F	UBAP2L_uc009wot.2_Missense_Mutation_p.L676F|UBAP2L_uc010pek.1_Missense_Mutation_p.L668F|UBAP2L_uc010pel.1_Missense_Mutation_p.L686F|UBAP2L_uc010pen.1_Missense_Mutation_p.L590F|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	676					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	154227746	154227746	17395	1	G	T	T	47	47	UBAP2L	T	2	2
TDRD10	126668	broad.mit.edu	37	1	154514508	154514508	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154514508G>T	uc009wow.2	+	7	1216	c.378G>T	c.(376-378)GAG>GAT	p.E126D	TDRD10_uc001ffd.2_Missense_Mutation_p.E126D|TDRD10_uc001ffe.2_Missense_Mutation_p.E47D	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	tudor domain containing 10 isoform a	126							nucleotide binding|RNA binding			ovary(1)	1	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Missense_Mutation	SNP	154514508	154514508	16257	1	G	T	T	33	33	TDRD10	T	2	2
TRIM46	80128	broad.mit.edu	37	1	155148375	155148375	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155148375T>C	uc001fhs.1	+	3	420	c.337T>C	c.(337-339)TAC>CAC	p.Y113H	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.Y100H|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.Y113H|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_5'UTR|TRIM46_uc001fhu.1_Missense_Mutation_p.Y90H|TRIM46_uc009wpg.1_Missense_Mutation_p.Y100H|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhv.3_Missense_Mutation_p.Y100H|TRIM46_uc001fhw.1_RNA	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	tripartite motif-containing 46	113						intracellular	zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---	capture		Missense_Mutation	SNP	155148375	155148375	17066	1	T	C	C	49	49	TRIM46	C	4	4
MUC1	4582	broad.mit.edu	37	1	155159765	155159765	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155159765G>T	uc010pfj.1	-	6	1320	c.914C>A	c.(913-915)CCC>CAC	p.P305H	RAG1AP1_uc010pey.1_Intron|MUC1_uc001fhy.2_Missense_Mutation_p.P135H|MUC1_uc001fhz.2_Missense_Mutation_p.P135H|MUC1_uc010pfb.1_Missense_Mutation_p.P135H|MUC1_uc010pfc.1_RNA|MUC1_uc009wph.2_Missense_Mutation_p.P135H|MUC1_uc010pfd.1_Missense_Mutation_p.P157H|MUC1_uc010pfe.1_RNA|MUC1_uc010pff.1_Missense_Mutation_p.P213H|MUC1_uc009wpi.2_Missense_Mutation_p.P135H|MUC1_uc010pfg.1_RNA|MUC1_uc010pfh.1_Missense_Mutation_p.P281H|MUC1_uc010pfi.1_Missense_Mutation_p.P281H|MUC1_uc010pfk.1_RNA|MUC1_uc010pfl.1_RNA|MUC1_uc001fin.2_Missense_Mutation_p.P114H|MUC1_uc009wpk.2_Missense_Mutation_p.P157H|MUC1_uc001fip.2_Silent_p.P128P|MUC1_uc009wqg.2_Missense_Mutation_p.P166H|MUC1_uc009wpo.2_Missense_Mutation_p.P172H|MUC1_uc009wps.2_Missense_Mutation_p.P193H|MUC1_uc009wpt.2_Missense_Mutation_p.P196H|MUC1_uc001fic.2_Missense_Mutation_p.P184H|MUC1_uc009wpu.2_RNA|MUC1_uc009wpq.2_Missense_Mutation_p.P198H|MUC1_uc009wpv.2_Missense_Mutation_p.P139H|MUC1_uc001fim.2_Missense_Mutation_p.P105H|MUC1_uc001fib.2_Missense_Mutation_p.P139H|MUC1_uc009wpw.2_Missense_Mutation_p.P132H|MUC1_uc001fie.2_Missense_Mutation_p.P123H|MUC1_uc009wpr.2_Missense_Mutation_p.P100H|MUC1_uc001fig.2_Missense_Mutation_p.P121H|MUC1_uc001fif.2_Missense_Mutation_p.P112H|MUC1_uc009wpx.2_Missense_Mutation_p.P194H|MUC1_uc001fid.2_Missense_Mutation_p.P185H|MUC1_uc009wpj.2_RNA|MUC1_uc001fij.2_Missense_Mutation_p.P219H|MUC1_uc009wpy.2_RNA|MUC1_uc010pfm.1_Missense_Mutation_p.P135H|MUC1_uc001fiq.2_Missense_Mutation_p.P135H|MUC1_uc009wpz.2_Missense_Mutation_p.P237H|MUC1_uc010pfn.1_Silent_p.P169P|MUC1_uc009wqa.2_Missense_Mutation_p.P293H|MUC1_uc010pfo.1_Missense_Mutation_p.P157H|MUC1_uc010pfp.1_Missense_Mutation_p.P157H|MUC1_uc001fii.2_RNA|MUC1_uc001fih.2_RNA|MUC1_uc001fia.2_Missense_Mutation_p.P210H|MUC1_uc009wqc.2_Missense_Mutation_p.P207H|MUC1_uc009wqd.2_Missense_Mutation_p.P231H|MUC1_uc009wqb.2_Missense_Mutation_p.P135H|MUC1_uc010pfq.1_Missense_Mutation_p.P207H|MUC1_uc010pfr.1_Missense_Mutation_p.P167H|MUC1_uc001fit.2_Missense_Mutation_p.P135H|MUC1_uc009wqe.2_Missense_Mutation_p.P114H|MUC1_uc001fil.2_Silent_p.P147P|MUC1_uc009wpm.2_Silent_p.P187P|MUC1_uc009wpp.2_Silent_p.P117P|MUC1_uc010pfs.1_RNA|MUC1_uc001fik.2_Missense_Mutation_p.P228H|MUC1_uc001fio.2_Missense_Mutation_p.P158H|MUC1_uc009wqf.2_Intron|MUC1_uc009wpl.2_Missense_Mutation_p.P144H|MUC1_uc009wpn.2_Silent_p.P208P			P15941	MUC1_HUMAN	SubName: Full=Mucin 1, cell surface associated;	1210	Cytoplasmic (Potential).|Interaction with P53.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)					T	IGH@	B-NHL								---	---	---	---	capture		Missense_Mutation	SNP	155159765	155159765	10363	1	G	T	T	43	43	MUC1	T	2	2
ASH1L	55870	broad.mit.edu	37	1	155448284	155448284	+	Silent	SNP	G	T	T	rs148724344		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155448284G>T	uc009wqq.2	-	3	4857	c.4377C>A	c.(4375-4377)CCC>CCA	p.P1459P	ASH1L_uc001fkt.2_Silent_p.P1459P|ASH1L_uc009wqr.1_Silent_p.P1459P	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	1459					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---	capture		Silent	SNP	155448284	155448284	1060	1	G	T	T	43	43	ASH1L	T	2	2
FCRL5	83416	broad.mit.edu	37	1	157485503	157485503	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157485503C>A	uc001fqu.2	-	17	3054	c.2896G>T	c.(2896-2898)GGA>TGA	p.G966*	FCRL5_uc009wsm.2_Silent_p.P962P	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	966	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)																---	---	---	---	capture		Nonsense_Mutation	SNP	157485503	157485503	6035	1	C	A	A	23	23	FCRL5	A	5	1
FCER1A	2205	broad.mit.edu	37	1	159275910	159275910	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159275910G>T	uc001ftq.2	+	5	563	c.464G>T	c.(463-465)TGG>TTG	p.W155L		NM_002001	NP_001992	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor	155	Ig-like 2.|Extracellular (Potential).					integral to plasma membrane				lung(2)|skin(2)|prostate(1)	5	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)													---	---	---	---	capture		Missense_Mutation	SNP	159275910	159275910	6011	1	G	T	T	47	47	FCER1A	T	2	2
VSIG8	391123	broad.mit.edu	37	1	159827692	159827692	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159827692C>T	uc001fuh.2	-	4	631	c.495G>A	c.(493-495)CTG>CTA	p.L165L	C1orf204_uc001fuf.1_5'Flank|C1orf204_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	165	Extracellular (Potential).|Ig-like V-type 2.					integral to membrane				central_nervous_system(1)	1	all_hematologic(112;0.0597)																	---	---	---	---	capture		Silent	SNP	159827692	159827692	17794	1	C	T	T	29	29	VSIG8	T	2	2
ATP1A2	477	broad.mit.edu	37	1	160109474	160109474	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160109474C>A	uc001fvc.2	+	21	3017	c.2885C>A	c.(2884-2886)GCT>GAT	p.A962D	ATP1A2_uc001fvd.2_Missense_Mutation_p.A681D	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	962	Helical; (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---	capture		Missense_Mutation	SNP	160109474	160109474	1148	1	C	A	A	28	28	ATP1A2	A	2	2
PVRL4	81607	broad.mit.edu	37	1	161042499	161042499	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161042499C>A	uc001fxo.2	-	9	1784	c.1485G>T	c.(1483-1485)AAG>AAT	p.K495N	ARHGAP30_uc001fxk.2_5'Flank|ARHGAP30_uc001fxl.2_5'Flank|ARHGAP30_uc001fxm.2_5'Flank|ARHGAP30_uc009wtx.2_5'Flank|ARHGAP30_uc001fxn.1_5'Flank|PVRL4_uc010pjy.1_Missense_Mutation_p.K149N|PVRL4_uc010pjz.1_Missense_Mutation_p.K204N	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	495	Cytoplasmic (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)															---	---	---	---	capture		Missense_Mutation	SNP	161042499	161042499	13300	1	C	A	A	28	28	PVRL4	A	2	2
C1orf111	284680	broad.mit.edu	37	1	162344105	162344105	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162344105G>T	uc001gbx.2	-	3	583	c.519C>A	c.(517-519)TCC>TCA	p.S173S		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	hypothetical protein LOC284680	173										ovary(1)	1	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)															---	---	---	---	capture		Silent	SNP	162344105	162344105	2051	1	G	T	T	47	47	C1orf111	T	2	2
UAP1	6675	broad.mit.edu	37	1	162551080	162551080	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162551080G>T	uc001gce.3	+	5	994	c.665G>T	c.(664-666)GGG>GTG	p.G222V		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	222					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)															---	---	---	---	capture		Missense_Mutation	SNP	162551080	162551080	17382	1	G	T	T	43	43	UAP1	T	2	2
ILDR2	387597	broad.mit.edu	37	1	166905975	166905975	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166905975C>A	uc001gdx.1	-	5	613	c.557_splice	c.e5-1	p.E186_splice		NM_199351	NP_955383			immunoglobulin-like domain containing receptor							integral to membrane				ovary(1)	1																		---	---	---	---	capture		Splice_Site	SNP	166905975	166905975	8011	1	C	A	A	32	32	ILDR2	A	5	2
MAEL	84944	broad.mit.edu	37	1	166963298	166963298	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166963298A>T	uc001gdy.1	+	5	586	c.515A>T	c.(514-516)CAG>CTG	p.Q172L	MAEL_uc001gdz.1_Missense_Mutation_p.Q141L|MAEL_uc009wvf.1_RNA	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	maelstrom homolog	172					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	166963298	166963298	9531	1	A	T	T	7	7	MAEL	T	4	4
FMO4	2329	broad.mit.edu	37	1	171293351	171293351	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171293351G>T	uc001gho.2	+	5	613	c.396G>T	c.(394-396)GAG>GAT	p.E132D		NM_002022	NP_002013	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	132					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			kidney(2)|skin(1)	3	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---	capture		Missense_Mutation	SNP	171293351	171293351	6199	1	G	T	T	35	35	FMO4	T	2	2
DNM3	26052	broad.mit.edu	37	1	172050971	172050971	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:172050971G>T	uc001gie.2	+	12	1599	c.1423_splice	c.e12-1	p.V475_splice	DNM3_uc001gid.3_Splice_Site_p.V475_splice|DNM3_uc009wwb.2_Splice_Site_p.V475_splice|DNM3_uc001gif.2_Splice_Site_p.V475_splice	NM_015569	NP_056384			dynamin 3 isoform a						endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			breast(1)	1																		---	---	---	---	capture		Splice_Site	SNP	172050971	172050971	4856	1	G	T	T	35	35	DNM3	T	5	2
TNN	63923	broad.mit.edu	37	1	175092614	175092614	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175092614C>A	uc001gkl.1	+	12	2842	c.2729C>A	c.(2728-2730)GCC>GAC	p.A910D		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	910	Fibronectin type-III 8.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)														---	---	---	---	capture		Missense_Mutation	SNP	175092614	175092614	16864	1	C	A	A	26	26	TNN	A	2	2
TNR	7143	broad.mit.edu	37	1	175334299	175334299	+	Missense_Mutation	SNP	C	G	G	rs139055042		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175334299C>G	uc001gkp.1	-	10	2515	c.2434G>C	c.(2434-2436)GAT>CAT	p.D812H	TNR_uc009wwu.1_Missense_Mutation_p.D812H	NM_003285	NP_003276	Q92752	TENR_HUMAN	tenascin R precursor	812	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11	Renal(580;0.146)																	---	---	---	---	capture		Missense_Mutation	SNP	175334299	175334299	16879	1	C	G	G	30	30	TNR	G	3	3
CACNA1E	777	broad.mit.edu	37	1	181767670	181767670	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181767670G>C	uc001gow.2	+	47	6678	c.6513G>C	c.(6511-6513)CCG>CCC	p.P2171P	CACNA1E_uc009wxs.2_Silent_p.P2059P|CACNA1E_uc009wxt.2_Silent_p.P1440P	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2214	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---	capture		Silent	SNP	181767670	181767670	2658	1	G	C	C	38	38	CACNA1E	C	3	3
C1orf14	81626	broad.mit.edu	37	1	182872297	182872297	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182872297C>A	uc001gpu.2	-	9	1873	c.1588_splice	c.e9-1	p.G530_splice	C1orf14_uc001gpv.2_Splice_Site_p.G411_splice|C1orf14_uc010pnz.1_Splice_Site_p.G388_splice|C1orf14_uc001gpw.2_Splice_Site_p.G250_splice	NM_030933	NP_112195			chromosome 1 open reading frame 14												0				Colorectal(1306;1.64e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00267)														---	---	---	---	capture		Splice_Site	SNP	182872297	182872297	2067	1	C	A	A	24	24	C1orf14	A	5	2
HMCN1	83872	broad.mit.edu	37	1	185932948	185932948	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185932948C>A	uc001grq.1	+	13	2248	c.2019C>A	c.(2017-2019)CCC>CCA	p.P673P	HMCN1_uc001grr.1_Silent_p.P14P	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	673	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Silent	SNP	185932948	185932948	7511	1	C	A	A	21	21	HMCN1	A	2	2
CFHR5	81494	broad.mit.edu	37	1	196967353	196967353	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196967353C>A	uc001gts.3	+	7	1194	c.1066C>A	c.(1066-1068)CGT>AGT	p.R356S		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	complement factor H-related 5 precursor	356	Sushi 6.				complement activation, alternative pathway	extracellular region				breast(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	196967353	196967353	3421	1	C	A	A	19	19	CFHR5	A	1	1
IGFN1	91156	broad.mit.edu	37	1	201190765	201190765	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201190765G>T	uc001gwc.2	+	8	2344	c.1572G>T	c.(1570-1572)AAG>AAT	p.K524N	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	201190765	201190765	7891	1	G	T	T	35	35	IGFN1	T	2	2
KDM5B	10765	broad.mit.edu	37	1	202700083	202700083	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202700083G>T	uc001gyf.2	-	25	4246	c.4130C>A	c.(4129-4131)GCT>GAT	p.A1377D	KDM5B_uc009xag.2_Missense_Mutation_p.A1413D|KDM5B_uc001gyg.1_Missense_Mutation_p.A1219D	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	1377					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	202700083	202700083	8440	1	G	T	T	34	34	KDM5B	T	2	2
PPFIA4	8497	broad.mit.edu	37	1	203045489	203045489	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203045489G>T	uc001gyz.2	+	17	2670	c.2077G>T	c.(2077-2079)GGA>TGA	p.G693*	PPFIA4_uc009xaj.2_Nonsense_Mutation_p.G1324*|PPFIA4_uc010pqf.1_Nonsense_Mutation_p.G906*|PPFIA4_uc001gza.2_Nonsense_Mutation_p.G684*|PPFIA4_uc001gzb.1_3'UTR|PPFIA4_uc001gzc.1_3'UTR	NM_015053	NP_055868	O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f	693					cell communication	cell surface|cytoplasm	protein binding			ovary(4)|skin(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	203045489	203045489	12742	1	G	T	T	39	39	PPFIA4	T	5	1
ATP2B4	493	broad.mit.edu	37	1	203652420	203652420	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203652420G>T	uc001gzw.2	+	2	971	c.87G>T	c.(85-87)CTG>CTT	p.L29L	ATP2B4_uc001gzv.2_Silent_p.L29L|ATP2B4_uc009xaq.2_Silent_p.L29L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	plasma membrane calcium ATPase 4 isoform 4b	29	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|skin(1)	3	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---	capture		Silent	SNP	203652420	203652420	1161	1	G	T	T	45	45	ATP2B4	T	2	2
SYT14	255928	broad.mit.edu	37	1	210334198	210334198	+	Silent	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210334198A>G	uc009xcv.2	+	8	1551	c.1479A>G	c.(1477-1479)CTA>CTG	p.L493L	SYT14_uc001hhs.3_Silent_p.L557L|SYT14_uc001hht.3_Silent_p.L512L|SYT14_uc001hhu.3_RNA|SYT14_uc010psn.1_Silent_p.L538L|SYT14_uc010pso.1_Silent_p.L455L|SYT14_uc010psp.1_Silent_p.L31L	NM_153262	NP_694994	Q8NB59	SYT14_HUMAN	synaptotagmin XIV isoform 4	493	Cytoplasmic (Potential).|C2 2.					integral to membrane				ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(81;0.085)														---	---	---	---	capture		Silent	SNP	210334198	210334198	15991	1	A	G	G	16	16	SYT14	G	4	4
GPATCH2	55105	broad.mit.edu	37	1	217793409	217793409	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:217793409C>A	uc001hlf.1	-	2	585	c.489G>T	c.(487-489)AAG>AAT	p.K163N	GPATCH2_uc001hlg.3_Missense_Mutation_p.K163N	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	163						intracellular	nucleic acid binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)														---	---	---	---	capture		Missense_Mutation	SNP	217793409	217793409	6865	1	C	A	A	24	24	GPATCH2	A	2	2
IARS2	55699	broad.mit.edu	37	1	220276788	220276788	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220276788G>T	uc001hmc.2	+	8	1055	c.951_splice	c.e8-1	p.K317_splice		NM_018060	NP_060530			mitochondrial isoleucine tRNA synthetase						isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			ovary(2)|skin(2)	4				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)													---	---	---	---	capture		Splice_Site	SNP	220276788	220276788	7774	1	G	T	T	35	35	IARS2	T	5	2
C1orf65	164127	broad.mit.edu	37	1	223568305	223568305	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223568305G>T	uc001hoa.2	+	1	1591	c.1488G>T	c.(1486-1488)GAG>GAT	p.E496D		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	496	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)														---	---	---	---	capture		Missense_Mutation	SNP	223568305	223568305	2129	1	G	T	T	35	35	C1orf65	T	2	2
PARP1	142	broad.mit.edu	37	1	226556023	226556023	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226556023C>A	uc001hqd.3	-	16	2326	c.2155_splice	c.e16-1	p.A719_splice		NM_001618	NP_001609			poly (ADP-ribose) polymerase family, member 1						cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---	capture		Splice_Site	SNP	226556023	226556023	11871	1	C	A	A	24	24	PARP1	A	5	2
PSEN2	5664	broad.mit.edu	37	1	227079536	227079536	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:227079536G>A	uc009xeo.1	+	11	1490	c.1063G>A	c.(1063-1065)GAG>AAG	p.E355K	PSEN2_uc009xep.1_Missense_Mutation_p.E354K|PSEN2_uc001hqk.2_RNA	NM_000447	NP_000438	P49810	PSN2_HUMAN	presenilin 2 isoform 1	355	Cytoplasmic (Potential).				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			lung(2)	2		Prostate(94;0.0771)																---	---	---	---	capture		Missense_Mutation	SNP	227079536	227079536	13104	1	G	A	A	33	33	PSEN2	A	2	2
OBSCN	84033	broad.mit.edu	37	1	228473926	228473926	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228473926A>G	uc009xez.1	+	34	9196	c.9152A>G	c.(9151-9153)AAT>AGT	p.N3051S	OBSCN_uc001hsn.2_Missense_Mutation_p.N3051S|OBSCN_uc001hsq.1_Missense_Mutation_p.N307S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3051	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)																---	---	---	---	capture		Missense_Mutation	SNP	228473926	228473926	11217	1	A	G	G	4	4	OBSCN	G	4	4
SIPA1L2	57568	broad.mit.edu	37	1	232581528	232581528	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232581528A>G	uc001hvg.2	-	9	3258	c.3100T>C	c.(3100-3102)TGT>CGT	p.C1034R	SIPA1L2_uc001hvf.2_Missense_Mutation_p.C108R	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1034					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---	capture		Missense_Mutation	SNP	232581528	232581528	14825	1	A	G	G	6	6	SIPA1L2	G	4	4
FMN2	56776	broad.mit.edu	37	1	240497432	240497432	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240497432C>A	uc010pyd.1	+	13	4893	c.4668C>A	c.(4666-4668)CTC>CTA	p.L1556L	FMN2_uc010pye.1_Silent_p.L1560L|FMN2_uc010pyf.1_Silent_p.L202L|FMN2_uc010pyg.1_Silent_p.L152L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	1556	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)															---	---	---	---	capture		Silent	SNP	240497432	240497432	6192	1	C	A	A	32	32	FMN2	A	2	2
ZNF238	10472	broad.mit.edu	37	1	244218349	244218349	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244218349G>T	uc001iae.2	+	1	1768	c.1246G>T	c.(1246-1248)GGG>TGG	p.G416W	ZNF238_uc001iad.3_Missense_Mutation_p.G425W|ZNF238_uc001iaf.1_3'UTR	NM_006352	NP_006343	Q99592	ZN238_HUMAN	zinc finger protein 238 isoform 2	416	C2H2-type 2.|Interaction with DNMT3A.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|pancreas(2)	5	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)															---	---	---	---	capture		Missense_Mutation	SNP	244218349	244218349	18381	1	G	T	T	47	47	ZNF238	T	2	2
ZNF496	84838	broad.mit.edu	37	1	247492858	247492858	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247492858C>A	uc001ico.2	-	3	488	c.23G>T	c.(22-24)CGA>CTA	p.R8L	ZNF496_uc009xgv.2_Missense_Mutation_p.R8L|ZNF496_uc001icp.2_Missense_Mutation_p.R8L|ZNF496_uc010pyv.1_Missense_Mutation_p.R8L	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	zinc finger protein 496	8					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)															---	---	---	---	capture		Missense_Mutation	SNP	247492858	247492858	18539	1	C	A	A	31	31	ZNF496	A	1	1
NLRP3	114548	broad.mit.edu	37	1	247588563	247588563	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247588563G>A	uc001icr.2	+	5	1956	c.1818G>A	c.(1816-1818)CTG>CTA	p.L606L	NLRP3_uc001ics.2_Silent_p.L606L|NLRP3_uc001icu.2_Silent_p.L606L|NLRP3_uc001icw.2_Silent_p.L606L|NLRP3_uc001icv.2_Silent_p.L606L|NLRP3_uc010pyw.1_Silent_p.L604L|NLRP3_uc001ict.1_Silent_p.L604L	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	606					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)															---	---	---	---	capture		Silent	SNP	247588563	247588563	10881	1	G	A	A	47	47	NLRP3	A	2	2
OR2B11	127623	broad.mit.edu	37	1	247614643	247614643	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247614643G>C	uc010pyx.1	-	1	642	c.642C>G	c.(640-642)CCC>CCG	p.P214P		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B,	214	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			upper_aerodigestive_tract(1)	1	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---	capture		Silent	SNP	247614643	247614643	11394	1	G	C	C	43	43	OR2B11	C	3	3
OR2W5	441932	broad.mit.edu	37	1	247655290	247655290	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247655290C>A	uc001icz.1	+	1	861	c.861C>A	c.(859-861)CCC>CCA	p.P287P		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W,	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|skin(1)	3	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---	capture		Silent	SNP	247655290	247655290	11440	1	C	A	A	22	22	OR2W5	A	2	2
OR2W3	343171	broad.mit.edu	37	1	248059311	248059311	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248059311C>A	uc001idp.1	+	3	692	c.423C>A	c.(421-423)TGC>TGA	p.C141*	OR2W3_uc010pzb.1_Nonsense_Mutation_p.C141*	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W,	141	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)|pancreas(1)	3	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---	capture		Nonsense_Mutation	SNP	248059311	248059311	11439	1	C	A	A	26	26	OR2W3	A	5	2
GTPBP4	23560	broad.mit.edu	37	10	1053023	1053023	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1053023G>T	uc001ift.2	+	10	1139	c.1068G>T	c.(1066-1068)GTG>GTT	p.V356V	GTPBP4_uc010qac.1_Silent_p.V147V|GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.V240V|GTPBP4_uc010qae.1_Silent_p.V309V	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	G protein-binding protein CRFG	356					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			ovary(1)|skin(1)	2		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)														---	---	---	---	capture		Silent	SNP	1053023	1053023	7162	10	G	T	T	46	46	GTPBP4	T	2	2
USP6NL	9712	broad.mit.edu	37	10	11504804	11504804	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11504804C>A	uc001ikt.3	-	15	2444	c.2123G>T	c.(2122-2124)GGG>GTG	p.G708V	USP6NL_uc001iks.1_Missense_Mutation_p.G725V	NM_014688	NP_055503	Q92738	US6NL_HUMAN	USP6 N-terminal like isoform 1	708						intracellular	Rab GTPase activator activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	11504804	11504804	17651	10	C	A	A	22	22	USP6NL	A	2	2
ITGA8	8516	broad.mit.edu	37	10	15639232	15639232	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:15639232C>A	uc001ioc.1	-	21	2185	c.2185G>T	c.(2185-2187)GGG>TGG	p.G729W	ITGA8_uc010qcb.1_Missense_Mutation_p.G714W	NM_003638	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8 precursor	729	Extracellular (Potential).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			ovary(3)|lung(3)	6																		---	---	---	---	capture		Missense_Mutation	SNP	15639232	15639232	8186	10	C	A	A	21	21	ITGA8	A	2	2
C10orf140	387640	broad.mit.edu	37	10	21805197	21805197	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:21805197C>G	uc009xkd.2	-	4	3808	c.1555G>C	c.(1555-1557)GAG>CAG	p.E519Q	uc001iqp.1_RNA	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	hypothetical protein LOC387640	438						nucleus	nucleotide binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	21805197	21805197	1632	10	C	G	G	30	30	C10orf140	G	3	3
THNSL1	79896	broad.mit.edu	37	10	25312955	25312955	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25312955C>A	uc001isi.3	+	3	1132	c.803C>A	c.(802-804)CCT>CAT	p.P268H	ENKUR_uc001ish.1_Intron	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1	268					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			pancreas(1)	1					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	25312955	25312955	16390	10	C	A	A	24	24	THNSL1	A	2	2
GAD2	2572	broad.mit.edu	37	10	26589782	26589782	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26589782G>T	uc001isp.2	+	16	2153	c.1650G>T	c.(1648-1650)TTG>TTT	p.L550F	GAD2_uc001isq.2_Missense_Mutation_p.L550F	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	550					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	26589782	26589782	6431	10	G	T	T	47	47	GAD2	T	2	2
ZNF239	8187	broad.mit.edu	37	10	44053470	44053470	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:44053470C>A	uc001jaw.3	-	2	711	c.58G>T	c.(58-60)GAT>TAT	p.D20Y	ZNF239_uc001jax.3_Missense_Mutation_p.D20Y|ZNF239_uc009xmj.2_Missense_Mutation_p.D20Y|ZNF239_uc009xmk.2_Missense_Mutation_p.D20Y	NM_005674	NP_005665	Q16600	ZN239_HUMAN	zinc finger protein 239	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	44053470	44053470	18382	10	C	A	A	30	30	ZNF239	A	2	2
OR13A1	79290	broad.mit.edu	37	10	45799862	45799862	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:45799862C>A	uc001jcc.1	-	4	318	c.9G>T	c.(7-9)CTG>CTT	p.L3L	OR13A1_uc001jcd.1_5'UTR	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A,	3	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Silent	SNP	45799862	45799862	11339	10	C	A	A	17	17	OR13A1	A	2	2
PRKG1	5592	broad.mit.edu	37	10	53227529	53227529	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:53227529G>T	uc001jjm.2	+	3	674	c.480G>T	c.(478-480)ATG>ATT	p.M160I	PRKG1_uc001jjn.2_Missense_Mutation_p.M175I|PRKG1_uc001jjo.2_Missense_Mutation_p.M175I|PRKG1_uc010qhp.1_Missense_Mutation_p.M160I	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I isoform	160	cGMP 1.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)														---	---	---	---	capture		Missense_Mutation	SNP	53227529	53227529	12965	10	G	T	T	47	47	PRKG1	T	2	2
PCDH15	65217	broad.mit.edu	37	10	55616991	55616991	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55616991G>A	uc001jju.1	-	28	4145	c.3750C>T	c.(3748-3750)GTC>GTT	p.V1250V	PCDH15_uc010qhq.1_Silent_p.V1255V|PCDH15_uc010qhr.1_Silent_p.V1250V|PCDH15_uc010qhs.1_Silent_p.V1262V|PCDH15_uc010qht.1_Silent_p.V1257V|PCDH15_uc010qhu.1_Silent_p.V1250V|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.V1250V|PCDH15_uc010qhw.1_Silent_p.V1213V|PCDH15_uc010qhx.1_Silent_p.V1179V|PCDH15_uc010qhy.1_Silent_p.V1255V|PCDH15_uc010qhz.1_Silent_p.V1250V|PCDH15_uc010qia.1_Silent_p.V1228V|PCDH15_uc010qib.1_Silent_p.V1228V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	1250	Cadherin 11.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---	capture		Silent	SNP	55616991	55616991	11931	10	G	A	A	45	45	PCDH15	A	2	2
FAM13C	220965	broad.mit.edu	37	10	61029736	61029736	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61029736G>T	uc001jkn.2	-	8	860	c.726C>A	c.(724-726)TCC>TCA	p.S242S	FAM13C_uc001jko.2_Silent_p.S242S|FAM13C_uc010qid.1_Silent_p.S159S|FAM13C_uc010qie.1_Silent_p.S159S|FAM13C_uc010qif.1_Silent_p.S264S|FAM13C_uc001jkp.2_Silent_p.S159S	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	242										ovary(2)	2																		---	---	---	---	capture		Silent	SNP	61029736	61029736	5651	10	G	T	T	47	47	FAM13C	T	2	2
SLC16A9	220963	broad.mit.edu	37	10	61414014	61414014	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61414014G>T	uc010qig.1	-	5	1219	c.770C>A	c.(769-771)CCC>CAC	p.P257H		NM_194298	NP_919274	Q7RTY1	MOT9_HUMAN	solute carrier family 16 (monocarboxylic acid	257	Extracellular (Potential).				urate metabolic process	integral to membrane|plasma membrane	symporter activity			skin(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	61414014	61414014	14911	10	G	T	T	43	43	SLC16A9	T	2	2
HERC4	26091	broad.mit.edu	37	10	69804216	69804216	+	Missense_Mutation	SNP	C	G	G	rs148764489		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:69804216C>G	uc001jng.3	-	4	642	c.331G>C	c.(331-333)GAT>CAT	p.D111H	HERC4_uc001jnf.3_RNA|HERC4_uc001jnh.3_Missense_Mutation_p.D111H|HERC4_uc009xpr.2_Missense_Mutation_p.D111H|HERC4_uc001jni.3_Intron|HERC4_uc001jnj.2_Missense_Mutation_p.D111H	NM_022079	NP_071362	Q5GLZ8	HERC4_HUMAN	hect domain and RLD 4 isoform a	111	RCC1 3.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	69804216	69804216	7343	10	C	G	G	31	31	HERC4	G	3	3
HNRNPH3	3189	broad.mit.edu	37	10	70097024	70097024	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70097024G>T	uc001jnw.3	+	2	275	c.46G>T	c.(46-48)GGG>TGG	p.G16W	HNRNPH3_uc001jnx.3_Missense_Mutation_p.G16W|HNRNPH3_uc009xpu.2_5'UTR|HNRNPH3_uc010qiv.1_Missense_Mutation_p.G16W|HNRNPH3_uc001jny.3_5'Flank	NM_012207	NP_036339	P31942	HNRH3_HUMAN	heterogeneous nuclear ribonucleoprotein H3	16	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	70097024	70097024	7560	10	G	T	T	47	47	HNRNPH3	T	2	2
HK1	3098	broad.mit.edu	37	10	71129353	71129353	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71129353G>T	uc001jpl.3	+	7	949	c.848G>T	c.(847-849)CGG>CTG	p.R283L	HK1_uc001jpg.3_Missense_Mutation_p.R271L|HK1_uc001jph.3_Missense_Mutation_p.R287L|HK1_uc001jpi.3_Missense_Mutation_p.R287L|HK1_uc001jpj.3_Missense_Mutation_p.R318L|HK1_uc001jpk.3_Missense_Mutation_p.R282L|HK1_uc009xqd.2_Missense_Mutation_p.R161L	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	283	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	71129353	71129353	7481	10	G	T	T	39	39	HK1	T	1	1
TACR2	6865	broad.mit.edu	37	10	71175996	71175996	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71175996C>A	uc001jpn.2	-	1	679	c.84G>T	c.(82-84)ATG>ATT	p.M28I		NM_001057	NP_001048	P21452	NK2R_HUMAN	tachykinin receptor 2	28	Extracellular (Potential).				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			prostate(1)	1					Clonidine(DB00575)|Octreotide(DB00104)													---	---	---	---	capture		Missense_Mutation	SNP	71175996	71175996	16027	10	C	A	A	25	25	TACR2	A	2	2
SGPL1	8879	broad.mit.edu	37	10	72604314	72604314	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72604314G>C	uc001jrm.2	+	3	334	c.112G>C	c.(112-114)GAG>CAG	p.E38Q		NM_003901	NP_003892	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	38	Lumenal (Potential).				apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity				0					Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	72604314	72604314	14709	10	G	C	C	45	45	SGPL1	C	3	3
VCL	7414	broad.mit.edu	37	10	75877915	75877915	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75877915C>A	uc001jwd.2	+	22	3487	c.3393C>A	c.(3391-3393)CCC>CCA	p.P1131P	VCL_uc009xrr.2_Silent_p.P812P|VCL_uc001jwe.2_Silent_p.P1063P|VCL_uc010qkz.1_Silent_p.P324P	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	1131	C-terminal tail.|Facilitates phospholipid membrane insertion (By similarity).				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)																	---	---	---	---	capture		Silent	SNP	75877915	75877915	17704	10	C	A	A	24	24	VCL	A	2	2
SFTPA2	729238	broad.mit.edu	37	10	81317816	81317816	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:81317816G>T	uc001kal.3	-	5	459	c.362C>A	c.(361-363)ACA>AAA	p.T121K	SFTPA2_uc001kan.3_Missense_Mutation_p.T121K	NM_006926	NP_008857	Q8IWL1	SFPA2_HUMAN	RecName: Full=Pulmonary surfactant-associated protein A2;          Short=SP-A2;          Short=SP-A;          Short=PSP-A;          Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor;	121					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding				0	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)											Pulmonary_Fibrosis_Idiopathic				---	---	---	---	capture		Missense_Mutation	SNP	81317816	81317816	14681	10	G	T	T	48	48	SFTPA2	T	2	2
LRIT1	26103	broad.mit.edu	37	10	85992387	85992387	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85992387C>T	uc001kcz.1	-	4	1190	c.1168G>A	c.(1168-1170)GCT>ACT	p.A390T		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	390	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	85992387	85992387	9320	10	C	T	T	27	27	LRIT1	T	1	1
LRIT1	26103	broad.mit.edu	37	10	85992509	85992509	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85992509G>T	uc001kcz.1	-	4	1068	c.1046C>A	c.(1045-1047)CCG>CAG	p.P349Q		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	349	Lumenal (Potential).					integral to endoplasmic reticulum membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	85992509	85992509	9320	10	G	T	T	39	39	LRIT1	T	1	1
LGI1	9211	broad.mit.edu	37	10	95556982	95556982	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95556982G>T	uc001kjc.3	+	8	1432	c.1096G>T	c.(1096-1098)GGA>TGA	p.G366*	LGI1_uc010qnv.1_Nonsense_Mutation_p.G318*|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	366	EAR 4.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)																---	---	---	---	capture		Nonsense_Mutation	SNP	95556982	95556982	9077	10	G	T	T	39	39	LGI1	T	5	1
PLCE1	51196	broad.mit.edu	37	10	96005734	96005734	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96005734A>G	uc001kjk.2	+	8	3086	c.2452A>G	c.(2452-2454)AAT>GAT	p.N818D	PLCE1_uc010qnx.1_Missense_Mutation_p.N818D|PLCE1_uc001kjm.2_Missense_Mutation_p.N510D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	818					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---	capture		Missense_Mutation	SNP	96005734	96005734	12460	10	A	G	G	5	5	PLCE1	G	4	4
CYP2C19	1557	broad.mit.edu	37	10	96609752	96609752	+	Missense_Mutation	SNP	C	T	T	rs17879685	byFrequency;by1000genomes	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:96609752C>T	uc010qnz.1	+	8	1228	c.1228C>T	c.(1228-1230)CGT>TGT	p.R410C	CYP2C19_uc010qny.1_Missense_Mutation_p.R388C	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C,	410					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)													---	---	---	---	capture		Missense_Mutation	SNP	96609752	96609752	4331	10	C	T	T	31	31	CYP2C19	T	1	1
TCTN3	26123	broad.mit.edu	37	10	97440243	97440243	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97440243A>T	uc001klb.3	-	13	1820	c.1576T>A	c.(1576-1578)TGC>AGC	p.C526S	TCTN3_uc001kla.3_Missense_Mutation_p.C370S|TCTN3_uc010qoi.1_Missense_Mutation_p.C378S	NM_015631	NP_056446	Q6NUS6	TECT3_HUMAN	tectonic 3 isoform a precursor	526	Extracellular (Potential).				apoptosis	integral to membrane					0		Colorectal(252;0.0815)		Epithelial(162;1.69e-07)|all cancers(201;5.63e-06)														---	---	---	---	capture		Missense_Mutation	SNP	97440243	97440243	16250	10	A	T	T	6	6	TCTN3	T	4	4
ABCC2	1244	broad.mit.edu	37	10	101603605	101603605	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101603605C>T	uc001kqf.2	+	27	3930	c.3791C>T	c.(3790-3792)ACC>ATC	p.T1264I		NM_000392	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP),	1264	ABC transmembrane type-1 2.|Cytoplasmic (By similarity).					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(1)	1		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---	capture		Missense_Mutation	SNP	101603605	101603605	54	10	C	T	T	18	18	ABCC2	T	2	2
FAM178A	55719	broad.mit.edu	37	10	102676494	102676494	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102676494G>T	uc001krt.3	+	3	894	c.352G>T	c.(352-354)GGT>TGT	p.G118C	FAM178A_uc001krr.1_Missense_Mutation_p.G118C|FAM178A_uc001krs.2_Missense_Mutation_p.G118C|FAM178A_uc001kru.1_Missense_Mutation_p.G54C	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	118											0																		---	---	---	---	capture		Missense_Mutation	SNP	102676494	102676494	5709	10	G	T	T	35	35	FAM178A	T	2	2
FBXW4	6468	broad.mit.edu	37	10	103436179	103436179	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103436179G>T	uc001kto.2	-	2	621	c.275C>A	c.(274-276)CCA>CAA	p.P92Q		NM_022039	NP_071322	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	92					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				skin(1)	1		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)														---	---	---	---	capture		Missense_Mutation	SNP	103436179	103436179	6004	10	G	T	T	47	47	FBXW4	T	2	2
CCDC147	159686	broad.mit.edu	37	10	106160462	106160462	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106160462G>C	uc001kyh.2	+	13	1974	c.1840G>C	c.(1840-1842)GGG>CGG	p.G614R		NM_001008723	NP_001008723	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	614										ovary(2)|central_nervous_system(2)|skin(1)	5		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)														---	---	---	---	capture		Missense_Mutation	SNP	106160462	106160462	2901	10	G	C	C	43	43	CCDC147	C	3	3
PNLIP	5406	broad.mit.edu	37	10	118315626	118315626	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118315626C>A	uc001lcm.2	+	9	969	c.926C>A	c.(925-927)ACT>AAT	p.T309N		NM_000936	NP_000927	P16233	LIPP_HUMAN	pancreatic lipase precursor	309					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			ovary(1)|central_nervous_system(1)|skin(1)	3				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)													---	---	---	---	capture		Missense_Mutation	SNP	118315626	118315626	12575	10	C	A	A	20	20	PNLIP	A	2	2
PDZD8	118987	broad.mit.edu	37	10	119043185	119043185	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119043185C>A	uc001lde.1	-	5	3258	c.3059G>T	c.(3058-3060)GGT>GTT	p.G1020V		NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1020					intracellular signal transduction		metal ion binding				0		Colorectal(252;0.19)		all cancers(201;0.0121)														---	---	---	---	capture		Missense_Mutation	SNP	119043185	119043185	12126	10	C	A	A	18	18	PDZD8	A	2	2
FAM24A	118670	broad.mit.edu	37	10	124671179	124671179	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:124671179A>G	uc001lgv.2	+	2	150	c.29A>G	c.(28-30)AAG>AGG	p.K10R		NM_001029888	NP_001025059	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	10						extracellular region				ovary(2)	2		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)														---	---	---	---	capture		Missense_Mutation	SNP	124671179	124671179	5763	10	A	G	G	3	3	FAM24A	G	4	4
BCCIP	56647	broad.mit.edu	37	10	127529887	127529887	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127529887A>G	uc001ljd.3	+	7	861	c.838A>G	c.(838-840)ATA>GTA	p.I280V	DHX32_uc001lje.1_Intron|DHX32_uc001ljf.1_Intron|DHX32_uc001ljg.1_Intron|BCCIP_uc010qui.1_Missense_Mutation_p.I278V|BCCIP_uc001ljc.3_Missense_Mutation_p.I280V|BCCIP_uc010quj.1_Missense_Mutation_p.I250V	NM_016567	NP_057651	Q9P287	BCCIP_HUMAN	BRCA2 and CDKN1A-interacting protein isoform	Error:Variant_position_missing_in_Q9P287_after_alignment					cell cycle|DNA repair|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding			ovary(1)|breast(1)	2		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---	capture		Missense_Mutation	SNP	127529887	127529887	1377	10	A	G	G	12	12	BCCIP	G	4	4
MKI67	4288	broad.mit.edu	37	10	129907439	129907439	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129907439C>T	uc001lke.2	-	13	2860	c.2665G>A	c.(2665-2667)GTG>ATG	p.V889M	MKI67_uc001lkf.2_Missense_Mutation_p.V529M|MKI67_uc009yav.1_Missense_Mutation_p.V464M|MKI67_uc009yaw.1_Missense_Mutation_p.V39M	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	889					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---	capture		Missense_Mutation	SNP	129907439	129907439	9988	10	C	T	T	17	17	MKI67	T	2	2
TUBGCP2	10844	broad.mit.edu	37	10	135106682	135106682	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135106682G>T	uc001lmg.1	-	7	1242	c.885C>A	c.(883-885)GCC>GCA	p.A295A	TUBGCP2_uc001lmf.1_5'Flank|TUBGCP2_uc010qvc.1_Silent_p.A323A|TUBGCP2_uc009ybk.1_Silent_p.A295A|TUBGCP2_uc010qvd.1_Silent_p.A165A|TUBGCP2_uc001lmh.1_RNA	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	295					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding				0		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)														---	---	---	---	capture		Silent	SNP	135106682	135106682	17321	10	G	T	T	47	47	TUBGCP2	T	2	2
FRG2B	441581	broad.mit.edu	37	10	135440117	135440117	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135440117C>A	uc010qvg.1	-	1	183	c.130G>T	c.(130-132)GGC>TGC	p.G44C		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	44						nucleus					0		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)														---	---	---	---	capture		Missense_Mutation	SNP	135440117	135440117	6296	10	C	A	A	24	24	FRG2B	A	2	2
OR51T1	401665	broad.mit.edu	37	11	4904106	4904106	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4904106G>T	uc010qyp.1	+	1	1058	c.1058G>T	c.(1057-1059)TGG>TTG	p.W353L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	326	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4904106	4904106	11516	11	G	T	T	47	47	OR51T1	T	2	2
OR51G2	81282	broad.mit.edu	37	11	4936671	4936671	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4936671C>A	uc001lzr.1	-	1	223	c.223G>T	c.(223-225)GAC>TAC	p.D75Y		NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G,	75	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4936671	4936671	11509	11	C	A	A	29	29	OR51G2	A	2	2
OR56A3	390083	broad.mit.edu	37	11	5969056	5969056	+	Silent	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5969056T>A	uc010qzt.1	+	1	480	c.480T>A	c.(478-480)ACT>ACA	p.T160T		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	160	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Silent	SNP	5969056	5969056	11544	11	T	A	A	54	54	OR56A3	A	4	4
OR56B4	196335	broad.mit.edu	37	11	6129644	6129644	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6129644G>T	uc010qzx.1	+	1	636	c.636G>T	c.(634-636)TTG>TTT	p.L212F		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6129644	6129644	11548	11	G	T	T	47	47	OR56B4	T	2	2
DCHS1	8642	broad.mit.edu	37	11	6651379	6651379	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6651379G>A	uc001mem.1	-	10	5056	c.4646C>T	c.(4645-4647)CCG>CTG	p.P1549L		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	dachsous 1 precursor	1549	Cadherin 15.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|large_intestine(1)|pancreas(1)	5		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	6651379	6651379	4458	11	G	A	A	39	39	DCHS1	A	1	1
QSER1	79832	broad.mit.edu	37	11	32956770	32956770	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32956770C>A	uc001mty.2	+	4	3846	c.3579C>A	c.(3577-3579)CCC>CCA	p.P1193P	QSER1_uc001mtz.1_Silent_p.P954P|QSER1_uc001mua.2_Silent_p.P698P	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1193										ovary(3)|central_nervous_system(2)|skin(1)	6	Breast(20;0.158)																	---	---	---	---	capture		Silent	SNP	32956770	32956770	13340	11	C	A	A	21	21	QSER1	A	2	2
C11orf41	25758	broad.mit.edu	37	11	33689492	33689492	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33689492G>A	uc001mup.3	+	20	5484	c.5360G>A	c.(5359-5361)CGT>CAT	p.R1787H		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1781						integral to membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	33689492	33689492	1679	11	G	A	A	40	40	C11orf41	A	1	1
TTC17	55761	broad.mit.edu	37	11	43465663	43465663	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43465663G>T	uc001mxi.2	+	18	2583	c.2569G>T	c.(2569-2571)GGG>TGG	p.G857W	TTC17_uc001mxh.2_Missense_Mutation_p.G914W|TTC17_uc010rfj.1_Missense_Mutation_p.G857W|TTC17_uc001mxj.2_Missense_Mutation_p.G684W	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	857							binding			ovary(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	43465663	43465663	17238	11	G	T	T	47	47	TTC17	T	2	2
NUP160	23279	broad.mit.edu	37	11	47843340	47843340	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47843340C>A	uc001ngm.2	-	9	1298	c.1213G>T	c.(1213-1215)GAT>TAT	p.D405Y	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	405					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	47843340	47843340	11162	11	C	A	A	30	30	NUP160	A	2	2
PTPRJ	5795	broad.mit.edu	37	11	48146592	48146592	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48146592C>T	uc001ngp.3	+	6	1302	c.947C>T	c.(946-948)CCT>CTT	p.P316L	PTPRJ_uc001ngo.3_Missense_Mutation_p.P316L	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	316	Extracellular (Potential).|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|kidney(3)|ovary(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	48146592	48146592	13261	11	C	T	T	24	24	PTPRJ	T	2	2
OR4X1	390113	broad.mit.edu	37	11	48285947	48285947	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48285947G>A	uc010rht.1	+	1	535	c.535G>A	c.(535-537)GTC>ATC	p.V179I		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X,	179	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	48285947	48285947	11494	11	G	A	A	48	48	OR4X1	A	2	2
OR4A15	81328	broad.mit.edu	37	11	55135842	55135842	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55135842G>A	uc010rif.1	+	1	483	c.483G>A	c.(481-483)TTG>TTA	p.L161L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A,	161	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	55135842	55135842	11446	11	G	A	A	45	45	OR4A15	A	2	2
OR4S2	219431	broad.mit.edu	37	11	55418457	55418457	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55418457T>G	uc001nhs.1	+	1	78	c.78T>G	c.(76-78)TTT>TTG	p.F26L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S,	26	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)|ovary(1)	3		all_epithelial(135;0.0748)																---	---	---	---	capture		Missense_Mutation	SNP	55418457	55418457	11493	11	T	G	G	63	63	OR4S2	G	4	4
OR5D13	390142	broad.mit.edu	37	11	55541730	55541730	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55541730G>A	uc010ril.1	+	1	817	c.817G>A	c.(817-819)GTT>ATT	p.V273I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	273	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)																---	---	---	---	capture		Missense_Mutation	SNP	55541730	55541730	11564	11	G	A	A	36	36	OR5D13	A	2	2
OR8H3	390152	broad.mit.edu	37	11	55890051	55890051	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55890051C>A	uc001nii.1	+	1	203	c.203C>A	c.(202-204)TCA>TAA	p.S68*		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00693)																	---	---	---	---	capture		Nonsense_Mutation	SNP	55890051	55890051	11650	11	C	A	A	29	29	OR8H3	A	5	2
LRRC55	219527	broad.mit.edu	37	11	56954786	56954786	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56954786G>T	uc001njl.1	+	2	1005	c.858G>T	c.(856-858)GAG>GAT	p.E286D	LRRC55_uc001njm.1_5'Flank	NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	256	LRRCT.					integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	56954786	56954786	9386	11	G	T	T	35	35	LRRC55	T	2	2
P2RX3	5024	broad.mit.edu	37	11	57135888	57135888	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57135888C>A	uc001nju.2	+	10	1056	c.980C>A	c.(979-981)GCG>GAG	p.A327E		NM_002559	NP_002550	P56373	P2RX3_HUMAN	purinergic receptor P2X3	327	Helical; Name=2; (Potential).				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	57135888	57135888	11754	11	C	A	A	27	27	P2RX3	A	1	1
OR4D6	219983	broad.mit.edu	37	11	59225285	59225285	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59225285C>A	uc010rku.1	+	1	852	c.852C>A	c.(850-852)CCC>CCA	p.P284P		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	59225285	59225285	11465	11	C	A	A	21	21	OR4D6	A	2	2
MS4A1	931	broad.mit.edu	37	11	60229966	60229966	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60229966C>A	uc001npp.2	+	3	535	c.119C>A	c.(118-120)CCC>CAC	p.P40H	MS4A1_uc009ymy.1_Missense_Mutation_p.P40H|MS4A1_uc001npq.2_Missense_Mutation_p.P40H|MS4A1_uc009yna.2_Missense_Mutation_p.P40H|MS4A1_uc009ymz.2_Missense_Mutation_p.P40H|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member	40	Cytoplasmic (Potential).				B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)													---	---	---	---	capture		Missense_Mutation	SNP	60229966	60229966	10247	11	C	A	A	22	22	MS4A1	A	2	2
SYT7	9066	broad.mit.edu	37	11	61323677	61323677	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61323677C>G	uc001nrv.2	-	2	40	c.34G>C	c.(34-36)GCG>CCG	p.A12P	SYT7_uc009ynr.2_Missense_Mutation_p.A12P|SYT7_uc001nrx.1_RNA	NM_004200	NP_004191	O43581	SYT7_HUMAN	synaptotagmin VII	12	Vesicular (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	61323677	61323677	16000	11	C	G	G	26	26	SYT7	G	3	3
INCENP	3619	broad.mit.edu	37	11	61907734	61907734	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61907734C>A	uc001nsw.1	+	8	1522	c.1320C>A	c.(1318-1320)CCC>CCA	p.P440P	INCENP_uc009ynw.1_Silent_p.P440P|INCENP_uc001nsx.1_Silent_p.P440P	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	440					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1																		---	---	---	---	capture		Silent	SNP	61907734	61907734	8034	11	C	A	A	21	21	INCENP	A	2	2
C11orf48	79081	broad.mit.edu	37	11	62435077	62435077	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62435077G>T	uc001nue.2	-	4	891	c.456C>A	c.(454-456)CCC>CCA	p.P152P	C11orf48_uc001nuf.2_Silent_p.P152P|METTL12_uc001nuh.2_3'UTR|C11orf48_uc010rmd.1_Silent_p.P152P	NM_024099	NP_077004	Q9BQE6	CK048_HUMAN	hypothetical protein LOC79081	178											0																		---	---	---	---	capture		Silent	SNP	62435077	62435077	1683	11	G	T	T	35	35	C11orf48	T	2	2
FLRT1	23769	broad.mit.edu	37	11	63885079	63885079	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63885079C>T	uc001nyi.1	+	2	1681	c.1340C>T	c.(1339-1341)ACG>ATG	p.T447M	MACROD1_uc001nyh.2_Intron	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein	419	Fibronectin type-III.|Extracellular (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	63885079	63885079	6180	11	C	T	T	19	19	FLRT1	T	1	1
PLCB3	5331	broad.mit.edu	37	11	64027528	64027528	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64027528G>T	uc001nzb.2	+	14	1553	c.1553G>T	c.(1552-1554)GGC>GTC	p.G518V	PLCB3_uc009ypg.1_Missense_Mutation_p.G518V|PLCB3_uc009yph.1_Missense_Mutation_p.G451V|PLCB3_uc009ypi.2_Missense_Mutation_p.G518V	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	phospholipase C beta 3	518					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	64027528	64027528	12455	11	G	T	T	42	42	PLCB3	T	2	2
TM7SF2	7108	broad.mit.edu	37	11	64880744	64880744	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64880744G>T	uc001oct.2	+	4	504	c.357G>T	c.(355-357)GCG>GCT	p.A119A	TM7SF2_uc010rny.1_Silent_p.A3A|TM7SF2_uc001ocu.2_Silent_p.A119A|TM7SF2_uc001ocv.2_Silent_p.A140A	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	119	Helical; (Potential).				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1																OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	64880744	64880744	16504	11	G	T	T	39	39	TM7SF2	T	1	1
TPCN2	219931	broad.mit.edu	37	11	68852705	68852705	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68852705G>T	uc001oos.2	+	20	1905	c.1789G>T	c.(1789-1791)GGG>TGG	p.G597W	TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	597	Helical; Name=S5 of repeat II; (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Missense_Mutation	SNP	68852705	68852705	16940	11	G	T	T	47	47	TPCN2	T	2	2
MYEOV	26579	broad.mit.edu	37	11	69063459	69063459	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:69063459C>A	uc001oov.2	+	3	992	c.542C>A	c.(541-543)CCT>CAT	p.P181H	MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.P181H|MYEOV_uc001oow.2_Missense_Mutation_p.P123H	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	181											0	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)														---	---	---	---	capture		Missense_Mutation	SNP	69063459	69063459	10420	11	C	A	A	24	24	MYEOV	A	2	2
PPFIA1	8500	broad.mit.edu	37	11	70170596	70170596	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70170596G>T	uc001opo.2	+	3	551	c.353G>T	c.(352-354)AGG>ATG	p.R118M	PPFIA1_uc001opn.1_Missense_Mutation_p.R118M|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	118	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Missense_Mutation	SNP	70170596	70170596	12739	11	G	T	T	35	35	PPFIA1	T	2	2
PPFIA1	8500	broad.mit.edu	37	11	70172786	70172786	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70172786G>T	uc001opo.2	+	7	990	c.792G>T	c.(790-792)AGG>AGT	p.R264S	PPFIA1_uc001opn.1_Missense_Mutation_p.R264S|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	264	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Missense_Mutation	SNP	70172786	70172786	12739	11	G	T	T	43	43	PPFIA1	T	2	2
P4HA3	283208	broad.mit.edu	37	11	73978304	73978304	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73978304G>T	uc001ouz.2	-	13	1667	c.1624C>A	c.(1624-1626)CCT>ACT	p.P542T	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.A539A	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	542						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	73978304	73978304	11771	11	G	T	T	43	43	P4HA3	T	2	2
C11orf30	56946	broad.mit.edu	37	11	76207466	76207466	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76207466C>A	uc001oxl.2	+	9	1459	c.1316C>A	c.(1315-1317)CCT>CAT	p.P439H	C11orf30_uc009yuj.1_Missense_Mutation_p.P454H|C11orf30_uc010rsa.1_Missense_Mutation_p.P389H|C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Missense_Mutation_p.P454H|C11orf30_uc010rsc.1_Missense_Mutation_p.P454H|C11orf30_uc001oxn.2_Missense_Mutation_p.P440H|C11orf30_uc010rsd.1_Missense_Mutation_p.P453H	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	439	Interaction with BRCA2.|Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	76207466	76207466	1674	11	C	A	A	24	24	C11orf30	A	2	2
C11orf30	56946	broad.mit.edu	37	11	76255760	76255760	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76255760C>A	uc001oxl.2	+	19	3310	c.3167C>A	c.(3166-3168)CCT>CAT	p.P1056H	C11orf30_uc001oxm.2_Missense_Mutation_p.P958H|C11orf30_uc010rsb.1_Missense_Mutation_p.P1071H|C11orf30_uc010rsc.1_Missense_Mutation_p.P1057H|C11orf30_uc001oxn.2_Missense_Mutation_p.P1057H|C11orf30_uc010rsd.1_Missense_Mutation_p.P965H|C11orf30_uc001oxo.1_Missense_Mutation_p.P410H|C11orf30_uc010rse.1_Missense_Mutation_p.P303H|C11orf30_uc001oxp.2_Missense_Mutation_p.P156H	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	EMSY protein	1056	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	76255760	76255760	1674	11	C	A	A	24	24	C11orf30	A	2	2
INTS4	92105	broad.mit.edu	37	11	77705659	77705659	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77705659C>A	uc001oys.2	-	1	59	c.31G>T	c.(31-33)GAG>TAG	p.E11*	INTS4_uc001oyt.2_RNA|INTS4_uc001oyu.1_Nonsense_Mutation_p.E11*|INTS4_uc001oyv.1_RNA	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	integrator complex subunit 4	11					snRNA processing	integrator complex	protein binding			ovary(2)	2	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)															---	---	---	---	capture		Nonsense_Mutation	SNP	77705659	77705659	8081	11	C	A	A	29	29	INTS4	A	5	2
TYR	7299	broad.mit.edu	37	11	88911581	88911581	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88911581G>T	uc001pcs.2	+	1	542	c.460G>T	c.(460-462)GGG>TGG	p.G154W		NM_000372	NP_000363	P14679	TYRO_HUMAN	tyrosinase precursor	154	Lumenal, melanosome (Potential).				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)									Oculocutaneous_Albinism				---	---	---	---	capture		Missense_Mutation	SNP	88911581	88911581	17370	11	G	T	T	35	35	TYR	T	2	2
SLC36A4	120103	broad.mit.edu	37	11	92881960	92881960	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92881960C>A	uc001pdn.2	-	11	1355	c.1258G>T	c.(1258-1260)GGA>TGA	p.G420*	uc001pdl.1_5'Flank|SLC36A4_uc001pdm.2_Nonsense_Mutation_p.G285*	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid	420	Helical; (Potential).				L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			ovary(2)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---	capture		Nonsense_Mutation	SNP	92881960	92881960	15093	11	C	A	A	21	21	SLC36A4	A	5	2
KDM4D	55693	broad.mit.edu	37	11	94731244	94731244	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94731244G>C	uc001pfe.2	+	3	1540	c.708G>C	c.(706-708)CGG>CGC	p.R236R		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	236	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---	capture		Silent	SNP	94731244	94731244	8437	11	G	C	C	43	43	KDM4D	C	3	3
SESN3	143686	broad.mit.edu	37	11	94922999	94922999	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94922999C>T	uc001pfk.1	-	4	691	c.469G>A	c.(469-471)GAA>AAA	p.E157K	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.2_Missense_Mutation_p.E157K	NM_144665	NP_653266	P58005	SESN3_HUMAN	sestrin 3	157					cell cycle arrest	nucleus					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)														---	---	---	---	capture		Missense_Mutation	SNP	94922999	94922999	14614	11	C	T	T	29	29	SESN3	T	2	2
KIAA1377	57562	broad.mit.edu	37	11	101815132	101815132	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:101815132A>T	uc001pgm.2	+	3	655	c.385A>T	c.(385-387)AGG>TGG	p.R129W	KIAA1377_uc001pgn.2_Missense_Mutation_p.R85W|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	hypothetical protein LOC57562	129							protein binding			breast(2)|ovary(1)|central_nervous_system(1)	4	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)														---	---	---	---	capture		Missense_Mutation	SNP	101815132	101815132	8536	11	A	T	T	11	11	KIAA1377	T	4	4
ATM	472	broad.mit.edu	37	11	108175517	108175517	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108175517C>T	uc001pkb.1	+	37	5997	c.5612C>T	c.(5611-5613)ACC>ATC	p.T1871I	ATM_uc009yxr.1_Missense_Mutation_p.T1871I|ATM_uc001pke.1_Missense_Mutation_p.T523I|ATM_uc001pkg.1_Missense_Mutation_p.T228I|ATM_uc009yxt.1_Silent_p.H14H	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1871					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)				D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)			---	---	---	---	capture		Missense_Mutation	SNP	108175517	108175517	1128	11	C	T	T	18	18	ATM	T	2	2
DSCAML1	57453	broad.mit.edu	37	11	117310040	117310040	+	Silent	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117310040C>G	uc001prh.1	-	23	4268	c.4266G>C	c.(4264-4266)ACG>ACC	p.T1422T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1362	Extracellular (Potential).|Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)														---	---	---	---	capture		Silent	SNP	117310040	117310040	4953	11	C	G	G	19	19	DSCAML1	G	3	3
HINFP	25988	broad.mit.edu	37	11	119001518	119001518	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119001518C>A	uc001pvp.2	+	4	454	c.265C>A	c.(265-267)CAC>AAC	p.H89N	HINFP_uc010rzb.1_Missense_Mutation_p.H89N|HINFP_uc001pvq.2_Missense_Mutation_p.H89N|HINFP_uc001pvr.2_5'Flank	NM_015517	NP_056332	Q9BQA5	HINFP_HUMAN	MBD2 (methyl-CpG-binding protein)-interacting	89					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			pancreas(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	119001518	119001518	7395	11	C	A	A	21	21	HINFP	A	2	2
GRAMD1B	57476	broad.mit.edu	37	11	123464819	123464819	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123464819T>A	uc001pyx.2	+	4	614	c.285T>A	c.(283-285)AAT>AAA	p.N95K	GRAMD1B_uc001pyw.2_Missense_Mutation_p.N102K|GRAMD1B_uc010rzw.1_Missense_Mutation_p.N55K|GRAMD1B_uc010rzx.1_Missense_Mutation_p.N55K|GRAMD1B_uc009zbe.1_Missense_Mutation_p.N91K	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	95						integral to membrane				ovary(1)	1		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)														---	---	---	---	capture		Missense_Mutation	SNP	123464819	123464819	7024	11	T	A	A	51	51	GRAMD1B	A	4	4
OR4D5	219875	broad.mit.edu	37	11	123810687	123810687	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123810687C>A	uc001pzk.1	+	1	364	c.364C>A	c.(364-366)CGC>AGC	p.R122S		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)														---	---	---	---	capture		Missense_Mutation	SNP	123810687	123810687	11464	11	C	A	A	23	23	OR4D5	A	1	1
FAM118B	79607	broad.mit.edu	37	11	126126696	126126696	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126126696C>A	uc001qdf.2	+	7	1114	c.931C>A	c.(931-933)CCA>ACA	p.P311T	FAM118B_uc009zca.2_Missense_Mutation_p.P315T|FAM118B_uc001qdg.2_Missense_Mutation_p.P311T	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	hypothetical protein LOC79607	311											0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)														---	---	---	---	capture		Missense_Mutation	SNP	126126696	126126696	5609	11	C	A	A	30	30	FAM118B	A	2	2
WNK1	65125	broad.mit.edu	37	12	995179	995179	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:995179C>A	uc001qio.3	+	19	5716	c.5209C>A	c.(5209-5211)CCA>ACA	p.P1737T	WNK1_uc001qip.3_Missense_Mutation_p.P1490T|WNK1_uc001qir.3_Missense_Mutation_p.P910T	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1737					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)															---	---	---	---	capture		Missense_Mutation	SNP	995179	995179	17951	12	C	A	A	22	22	WNK1	A	2	2
RAD52	5893	broad.mit.edu	37	12	1039000	1039000	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1039000C>A	uc001qis.1	-	5	447	c.333G>T	c.(331-333)GTG>GTT	p.V111V	RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Silent_p.V34V|RAD52_uc001qiu.1_Silent_p.V111V|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_Intron|RAD52_uc010sdu.1_Silent_p.V111V|RAD52_uc001qix.1_Silent_p.V111V	NM_134424	NP_602296	P43351	RAD52_HUMAN	RAD52 homolog	111					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)	1	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)										Homologous_recombination					---	---	---	---	capture		Silent	SNP	1039000	1039000	13451	12	C	A	A	29	29	RAD52	A	2	2
DCP1B	196513	broad.mit.edu	37	12	2058392	2058392	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2058392G>A	uc001qjx.1	-	8	1713	c.1633C>T	c.(1633-1635)CTC>TTC	p.L545F	DCP1B_uc010sdy.1_Missense_Mutation_p.L443F	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	decapping enzyme Dcp1b	545					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.00193)															---	---	---	---	capture		Missense_Mutation	SNP	2058392	2058392	4470	12	G	A	A	35	35	DCP1B	A	2	2
RAD51AP1	10635	broad.mit.edu	37	12	4653043	4653043	+	Missense_Mutation	SNP	C	A	A	rs113155979		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:4653043C>A	uc001qmw.2	+	3	338	c.182C>A	c.(181-183)CCA>CAA	p.P61Q	RAD51AP1_uc001qmu.2_Missense_Mutation_p.P61Q|RAD51AP1_uc001qmv.2_5'UTR|RAD51AP1_uc010sep.1_5'UTR|RAD51AP1_uc010seq.1_5'UTR	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	61					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)															---	---	---	---	capture		Missense_Mutation	SNP	4653043	4653043	13446	12	C	A	A	21	21	RAD51AP1	A	2	2
NANOG	79923	broad.mit.edu	37	12	7942325	7942325	+	Nonsense_Mutation	SNP	C	T	T	rs140243232	byFrequency	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7942325C>T	uc009zfy.1	+	1	331	c.115C>T	c.(115-117)CAA>TAA	p.Q39*		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Nanog homeobox	39					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				Kidney(36;0.0872)														---	---	---	---	capture		Nonsense_Mutation	SNP	7942325	7942325	10546	12	C	T	T	25	25	NANOG	T	5	2
SLC2A3	6515	broad.mit.edu	37	12	8082312	8082312	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8082312G>T	uc001qtr.2	-	6	1091	c.829C>A	c.(829-831)CAG>AAG	p.Q277K	SLC2A3_uc001qts.2_3'UTR	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	277	Defines substrate specificity (By similarity).|Helical; Name=7; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)														---	---	---	---	capture		Missense_Mutation	SNP	8082312	8082312	15042	12	G	T	T	47	47	SLC2A3	T	2	2
DUSP16	80824	broad.mit.edu	37	12	12630882	12630882	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:12630882C>T	uc001rao.1	-	7	1515	c.883G>A	c.(883-885)GAG>AAG	p.E295K	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Missense_Mutation_p.E147K	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	295					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)														---	---	---	---	capture		Missense_Mutation	SNP	12630882	12630882	5001	12	C	T	T	29	29	DUSP16	T	2	2
PDE6H	5149	broad.mit.edu	37	12	15132142	15132142	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:15132142G>T	uc001rcr.2	+	3	248	c.164G>T	c.(163-165)GGG>GTG	p.G55V		NM_006205	NP_006196	Q13956	CNCG_HUMAN	phosphodiesterase 6H	55					visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	15132142	15132142	12071	12	G	T	T	43	43	PDE6H	T	2	2
STRAP	11171	broad.mit.edu	37	12	16047010	16047010	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16047010G>T	uc001rdc.3	+	5	787	c.433G>T	c.(433-435)GGT>TGT	p.G145C	STRAP_uc010shw.1_Missense_Mutation_p.G158C|STRAP_uc001rdd.3_Missense_Mutation_p.G51C	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated	145	WD 4.				mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			skin(1)	1		Hepatocellular(102;0.121)																---	---	---	---	capture		Missense_Mutation	SNP	16047010	16047010	15846	12	G	T	T	47	47	STRAP	T	2	2
PLEKHA5	54477	broad.mit.edu	37	12	19413942	19413942	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19413942C>A	uc001reb.2	+	7	683	c.597C>A	c.(595-597)CTC>CTA	p.L199L	PLEKHA5_uc010sie.1_Silent_p.L199L|PLEKHA5_uc001rea.2_Silent_p.L199L|PLEKHA5_uc009zin.2_Intron|PLEKHA5_uc010sif.1_Silent_p.L91L|PLEKHA5_uc010sig.1_Silent_p.L91L|PLEKHA5_uc010sih.1_Silent_p.L91L	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	199	PH.						1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)																	---	---	---	---	capture		Silent	SNP	19413942	19413942	12485	12	C	A	A	32	32	PLEKHA5	A	2	2
ST8SIA1	6489	broad.mit.edu	37	12	22401957	22401957	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22401957G>T	uc001rfo.3	-	4	1049	c.567C>A	c.(565-567)CCC>CCA	p.P189P	ST8SIA1_uc009zix.2_Silent_p.P46P	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	alpha-2,8-sialyltransferase 1	189	Lumenal (Potential).				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	22401957	22401957	15749	12	G	T	T	47	47	ST8SIA1	T	2	2
LRRK2	120892	broad.mit.edu	37	12	40692163	40692163	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40692163C>A	uc001rmg.3	+	24	3336	c.3215C>A	c.(3214-3216)CCC>CAC	p.P1072H	LRRK2_uc001rmh.1_Missense_Mutation_p.P694H|LRRK2_uc009zjw.2_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1072	LRR 4.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)																---	---	---	---	capture		Missense_Mutation	SNP	40692163	40692163	9409	12	C	A	A	22	22	LRRK2	A	2	2
CNTN1	1272	broad.mit.edu	37	12	41330707	41330707	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41330707G>T	uc001rmm.1	+	10	1223	c.1110G>T	c.(1108-1110)GCG>GCT	p.A370A	CNTN1_uc009zjy.1_Silent_p.A370A|CNTN1_uc001rmn.1_Silent_p.A359A|CNTN1_uc001rmo.2_Silent_p.A370A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	370	Ig-like C2-type 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---	capture		Silent	SNP	41330707	41330707	3778	12	G	T	T	39	39	CNTN1	T	1	1
TMEM117	84216	broad.mit.edu	37	12	44338016	44338016	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44338016A>T	uc001rod.2	+	3	347	c.281A>T	c.(280-282)CAG>CTG	p.Q94L	TMEM117_uc001roe.2_Silent_p.S23S|TMEM117_uc009zkc.2_Missense_Mutation_p.Q94L	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	94						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---	capture		Missense_Mutation	SNP	44338016	44338016	16562	12	A	T	T	7	7	TMEM117	T	4	4
SFRS2IP	9169	broad.mit.edu	37	12	46320689	46320689	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46320689C>A	uc001rox.2	-	11	3082	c.2795G>T	c.(2794-2796)TGG>TTG	p.W932L	SFRS2IP_uc001row.2_Missense_Mutation_p.W617L|SFRS2IP_uc001roy.1_Missense_Mutation_p.W1006L	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	932	Arg-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---	capture		Missense_Mutation	SNP	46320689	46320689	14667	12	C	A	A	21	21	SFRS2IP	A	2	2
SFRS2IP	9169	broad.mit.edu	37	12	46321720	46321720	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46321720G>T	uc001rox.2	-	11	2051	c.1764C>A	c.(1762-1764)TCC>TCA	p.S588S	SFRS2IP_uc001row.2_Silent_p.S273S|SFRS2IP_uc001roy.1_Silent_p.S662S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	splicing factor, arginine/serine-rich 2,	588					spliceosome assembly	nucleus	protein binding|zinc ion binding				0	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.209)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.1)														---	---	---	---	capture		Silent	SNP	46321720	46321720	14667	12	G	T	T	43	43	SFRS2IP	T	2	2
MLL2	8085	broad.mit.edu	37	12	49442950	49442950	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49442950C>A	uc001rta.3	-	12	3958	c.3958G>T	c.(3958-3960)GGA>TGA	p.G1320*		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1320	Arg-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---	capture		Nonsense_Mutation	SNP	49442950	49442950	10011	12	C	A	A	21	21	MLL2	A	5	2
ESPL1	9700	broad.mit.edu	37	12	53662832	53662832	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53662832G>T	uc001sck.2	+	3	197	c.106G>T	c.(106-108)GGT>TGT	p.G36C	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	separase	36					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			lung(1)|kidney(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	53662832	53662832	5446	12	G	T	T	47	47	ESPL1	T	2	2
OR6C65	403282	broad.mit.edu	37	12	55794584	55794584	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:55794584C>T	uc010spl.1	+	1	272	c.272C>T	c.(271-273)TCC>TTC	p.S91F		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C,	91	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	55794584	55794584	11605	12	C	T	T	30	30	OR6C65	T	2	2
CDK2	1017	broad.mit.edu	37	12	56360838	56360838	+	Nonsense_Mutation	SNP	G	T	T	rs113816950		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56360838G>T	uc001sit.3	+	1	283	c.46G>T	c.(46-48)GGA>TGA	p.G16*	CDK2_uc001siu.3_Nonsense_Mutation_p.G16*|CDK2_uc010spy.1_Nonsense_Mutation_p.G16*|SILV_uc001sip.2_5'Flank|SILV_uc001siq.2_5'Flank|SILV_uc010spx.1_5'Flank|SILV_uc001sir.2_5'Flank	NM_001798	NP_001789	P24941	CDK2_HUMAN	cyclin-dependent kinase 2 isoform 1	16	ATP.|Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			stomach(1)|central_nervous_system(1)	2			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)															---	---	---	---	capture		Nonsense_Mutation	SNP	56360838	56360838	3265	12	G	T	T	39	39	CDK2	T	5	1
NAB2	4665	broad.mit.edu	37	12	57486255	57486255	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57486255C>A	uc001smz.2	+	3	1360	c.982C>A	c.(982-984)CAG>AAG	p.Q328K		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	328	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	57486255	57486255	10527	12	C	A	A	21	21	NAB2	A	2	2
AVIL	10677	broad.mit.edu	37	12	58197064	58197064	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58197064G>T	uc001sqj.1	-	15	1957	c.1928C>A	c.(1927-1929)CCT>CAT	p.P643H	AVIL_uc009zqe.1_Missense_Mutation_p.P636H|AVIL_uc001sqk.1_Missense_Mutation_p.P221H	NM_006576	NP_006567	O75366	AVIL_HUMAN	advillin	643	Gelsolin-like 6.|Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			central_nervous_system(1)	1	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)															OREG0021955	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	58197064	58197064	1248	12	G	T	T	35	35	AVIL	T	2	2
NAV3	89795	broad.mit.edu	37	12	78444760	78444760	+	Silent	SNP	G	C	C	rs35997153	by1000genomes	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78444760G>C	uc001syp.2	+	11	2522	c.2349G>C	c.(2347-2349)ACG>ACC	p.T783T	NAV3_uc001syo.2_Silent_p.T783T|NAV3_uc010sub.1_Silent_p.T283T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	783						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---	capture		Silent	SNP	78444760	78444760	10581	12	G	C	C	38	38	NAV3	C	3	3
PLEKHG7	440107	broad.mit.edu	37	12	93147929	93147929	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:93147929C>T	uc001tcj.2	+	6	609	c.379C>T	c.(379-381)CAG>TAG	p.Q127*		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G	127	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	93147929	93147929	12501	12	C	T	T	17	17	PLEKHG7	T	5	2
PLXNC1	10154	broad.mit.edu	37	12	94658864	94658864	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:94658864G>T	uc001tdc.2	+	21	3709	c.3460G>T	c.(3460-3462)GGA>TGA	p.G1154*	PLXNC1_uc010sut.1_Nonsense_Mutation_p.G201*|PLXNC1_uc009zsv.2_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	plexin C1 precursor	1154	Cytoplasmic (Potential).				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Nonsense_Mutation	SNP	94658864	94658864	12552	12	G	T	T	39	39	PLXNC1	T	5	1
METAP2	10988	broad.mit.edu	37	12	95879719	95879719	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95879719C>A	uc001tec.2	+	4	524	c.390C>A	c.(388-390)CCC>CCA	p.P130P	METAP2_uc010suv.1_Intron|METAP2_uc009ztd.2_Silent_p.P94P|METAP2_uc001ted.2_Silent_p.P129P|METAP2_uc001tef.2_Silent_p.P107P|METAP2_uc001tee.2_RNA	NM_006838	NP_006829	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	130					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0					L-Methionine(DB00134)													---	---	---	---	capture		Silent	SNP	95879719	95879719	9876	12	C	A	A	21	21	METAP2	A	2	2
SLC17A8	246213	broad.mit.edu	37	12	100806558	100806558	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100806558G>T	uc010svi.1	+	10	1510	c.1197G>T	c.(1195-1197)ATG>ATT	p.M399I	SLC17A8_uc009ztx.2_Missense_Mutation_p.M349I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (sodium-dependent	399	Helical; (Potential).				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	100806558	100806558	14919	12	G	T	T	47	47	SLC17A8	T	2	2
ANO4	121601	broad.mit.edu	37	12	101488070	101488070	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101488070G>T	uc010svm.1	+	18	2310	c.1738G>T	c.(1738-1740)GAA>TAA	p.E580*	ANO4_uc001thw.2_Nonsense_Mutation_p.E545*|ANO4_uc001thx.2_Nonsense_Mutation_p.E580*|ANO4_uc001thy.2_Nonsense_Mutation_p.E100*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	580	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6															HNSCC(74;0.22)			---	---	---	---	capture		Nonsense_Mutation	SNP	101488070	101488070	707	12	G	T	T	35	35	ANO4	T	5	2
UTP20	27340	broad.mit.edu	37	12	101685795	101685795	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101685795G>T	uc001tia.1	+	10	1242	c.1086G>T	c.(1084-1086)TGG>TGT	p.W362C		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	362					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	101685795	101685795	17664	12	G	T	T	43	43	UTP20	T	2	2
UTP20	27340	broad.mit.edu	37	12	101763508	101763508	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101763508G>T	uc001tia.1	+	49	6550	c.6394G>T	c.(6394-6396)GGT>TGT	p.G2132C		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2132					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	101763508	101763508	17664	12	G	T	T	35	35	UTP20	T	2	2
CHPT1	56994	broad.mit.edu	37	12	102107937	102107937	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102107937G>T	uc001tin.2	+	2	566	c.343G>T	c.(343-345)GGG>TGG	p.G115W	CHPT1_uc001tio.2_RNA|CHPT1_uc001tip.1_Missense_Mutation_p.G115W	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	115					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	102107937	102107937	3504	12	G	T	T	47	47	CHPT1	T	2	2
RFX4	5992	broad.mit.edu	37	12	107103163	107103163	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107103163G>A	uc001tlr.2	+	9	955	c.889G>A	c.(889-891)GCT>ACT	p.A297T	RFX4_uc010swv.1_RNA|RFX4_uc001tls.2_Missense_Mutation_p.A306T|RFX4_uc001tlt.2_Missense_Mutation_p.A306T|RFX4_uc001tlv.2_Missense_Mutation_p.A203T	NM_213594	NP_998759	Q33E94	RFX4_HUMAN	regulatory factor X4 isoform c	297					transcription, DNA-dependent	nucleus	DNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	107103163	107103163	13737	12	G	A	A	42	42	RFX4	A	2	2
WSCD2	9671	broad.mit.edu	37	12	108589946	108589946	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108589946C>G	uc001tms.2	+	2	1081	c.337C>G	c.(337-339)CGA>GGA	p.R113G	WSCD2_uc001tmt.2_Missense_Mutation_p.R113G	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	113						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	108589946	108589946	17981	12	C	G	G	23	23	WSCD2	G	3	3
SSH1	54434	broad.mit.edu	37	12	109210857	109210857	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109210857C>A	uc001tnm.2	-	5	445	c.358G>T	c.(358-360)GAG>TAG	p.E120*	SSH1_uc010sxg.1_Nonsense_Mutation_p.E131*|SSH1_uc001tnn.3_Nonsense_Mutation_p.E120*|SSH1_uc001tno.1_Nonsense_Mutation_p.E47*	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	120					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	109210857	109210857	15700	12	C	A	A	31	31	SSH1	A	5	1
UBE3B	89910	broad.mit.edu	37	12	109962291	109962291	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109962291G>T	uc001top.2	+	23	3154	c.2551G>T	c.(2551-2553)GAG>TAG	p.E851*	UBE3B_uc001toq.2_Nonsense_Mutation_p.E851*|UBE3B_uc001tos.2_Nonsense_Mutation_p.E278*|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Nonsense_Mutation_p.E851*	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	851	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	109962291	109962291	17438	12	G	T	T	37	37	UBE3B	T	5	1
ATP2A2	488	broad.mit.edu	37	12	110765523	110765523	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110765523C>A	uc001tqk.3	+	8	1359	c.796C>A	c.(796-798)CTT>ATT	p.L266I	ATP2A2_uc001tql.3_Missense_Mutation_p.L266I|ATP2A2_uc010sxy.1_Missense_Mutation_p.L239I	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	266	Helical; Name=3; (By similarity).				ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	110765523	110765523	1156	12	C	A	A	24	24	ATP2A2	A	2	2
PXN	5829	broad.mit.edu	37	12	120653417	120653417	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120653417G>A	uc001txt.2	-	7	1010	c.879C>T	c.(877-879)GCC>GCT	p.A293A	PXN_uc001txu.2_Silent_p.A57A|PXN_uc001txv.2_Intron|PXN_uc001txx.2_Intron|PXN_uc001txy.2_Intron|PXN_uc001txz.2_RNA	NM_001080855	NP_001074324	P49023	PAXI_HUMAN	paxillin isoform 1	293					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			ovary(1)|breast(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Silent	SNP	120653417	120653417	13310	12	G	A	A	39	39	PXN	A	1	1
P2RX7	5027	broad.mit.edu	37	12	121615214	121615214	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121615214A>T	uc001tzm.2	+	11	1249	c.1153A>T	c.(1153-1155)AGG>TGG	p.R385W	P2RX7_uc001tzn.2_Missense_Mutation_p.R295W|P2RX7_uc001tzo.2_RNA|P2RX7_uc001tzp.2_Missense_Mutation_p.R96W|P2RX7_uc001tzq.2_Missense_Mutation_p.R215W	NM_002562	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X7	385						integral to membrane	ATP binding|ion channel activity|receptor activity			large_intestine(2)|lung(1)|breast(1)|skin(1)	5	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	121615214	121615214	11758	12	A	T	T	7	7	P2RX7	T	4	4
WDR66	144406	broad.mit.edu	37	12	122437833	122437833	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122437833G>C	uc009zxk.2	+	20	3360	c.3218G>C	c.(3217-3219)AGA>ACA	p.R1073T		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1073							calcium ion binding			ovary(1)|skin(1)	2	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)														---	---	---	---	capture		Missense_Mutation	SNP	122437833	122437833	17890	12	G	C	C	33	33	WDR66	C	3	3
SNRNP35	11066	broad.mit.edu	37	12	123950803	123950803	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123950803G>T	uc001ufb.1	+	2	832	c.716G>T	c.(715-717)AGG>ATG	p.R239M	SNRNP35_uc010tar.1_Missense_Mutation_p.R244M|SNRNP35_uc009zxz.2_Missense_Mutation_p.R244M|SNRNP35_uc001ufc.1_Intron	NM_022717	NP_073208	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	239	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	123950803	123950803	15355	12	G	T	T	35	35	SNRNP35	T	2	2
FLT1	2321	broad.mit.edu	37	13	29008091	29008091	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29008091G>C	uc001usb.3	-	6	963	c.678C>G	c.(676-678)ACC>ACG	p.T226T	FLT1_uc010aar.1_Silent_p.T226T|FLT1_uc001usc.3_Silent_p.T226T|FLT1_uc010tdp.1_Silent_p.T226T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	226	Extracellular (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)													---	---	---	---	capture		Silent	SNP	29008091	29008091	6183	13	G	C	C	47	47	FLT1	C	3	3
PDS5B	23047	broad.mit.edu	37	13	33320149	33320149	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33320149G>T	uc010abf.2	+	24	2805	c.2647G>T	c.(2647-2649)GGG>TGG	p.G883W	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	883					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---	capture		Missense_Mutation	SNP	33320149	33320149	12113	13	G	T	T	47	47	PDS5B	T	2	2
FAM48A	55578	broad.mit.edu	37	13	37593482	37593482	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37593482G>T	uc001uwg.2	-	22	2117	c.1869C>A	c.(1867-1869)CTC>CTA	p.L623L	FAM48A_uc010abt.2_Silent_p.L624L|FAM48A_uc001uwh.2_Silent_p.L624L|FAM48A_uc001uwi.2_Silent_p.L623L|FAM48A_uc001uwj.2_Silent_p.L624L|FAM48A_uc001uwk.2_Silent_p.L702L|FAM48A_uc001uwd.2_Silent_p.L110L|FAM48A_uc001uwe.2_Silent_p.L107L|FAM48A_uc001uwf.2_Silent_p.L201L	NM_001014286	NP_001014308	Q8NEM7	FA48A_HUMAN	family with sequence similarity 48, member A	623					autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)														---	---	---	---	capture		Silent	SNP	37593482	37593482	5794	13	G	T	T	41	41	FAM48A	T	2	2
MED4	29079	broad.mit.edu	37	13	48660523	48660523	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48660523C>A	uc001vby.1	-	3	284	c.258G>T	c.(256-258)CAG>CAT	p.Q86H	MED4_uc010tge.1_Missense_Mutation_p.Q86H|MED4_uc010tgf.1_Missense_Mutation_p.Q40H	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	86					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)	1		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)														---	---	---	---	capture		Missense_Mutation	SNP	48660523	48660523	9839	13	C	A	A	24	24	MED4	A	2	2
PCDH8	5100	broad.mit.edu	37	13	53419021	53419021	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53419021G>A	uc001vhi.2	-	3	3090	c.2887C>T	c.(2887-2889)CGC>TGC	p.R963C	PCDH8_uc001vhj.2_Missense_Mutation_p.R866C	NM_002590	NP_002581	O95206	PCDH8_HUMAN	protocadherin 8 isoform 1 precursor	963	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)	1		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)														---	---	---	---	capture		Missense_Mutation	SNP	53419021	53419021	11937	13	G	A	A	39	39	PCDH8	A	1	1
PCDH20	64881	broad.mit.edu	37	13	61987742	61987742	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:61987742C>T	uc001vid.3	-	2	854	c.490G>A	c.(490-492)GGC>AGC	p.G164S	PCDH20_uc010thj.1_Missense_Mutation_p.G164S	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	protocadherin 20	137	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|breast(1)|central_nervous_system(1)	6		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)														---	---	---	---	capture		Missense_Mutation	SNP	61987742	61987742	11935	13	C	T	T	23	23	PCDH20	T	1	1
KLF5	688	broad.mit.edu	37	13	73636323	73636323	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73636323C>A	uc001vje.2	+	2	910	c.586C>A	c.(586-588)CAC>AAC	p.H196N	KLF5_uc001vjd.2_Missense_Mutation_p.H105N	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Kruppel-like factor 5	196					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|pancreas(1)	3		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)														---	---	---	---	capture		Missense_Mutation	SNP	73636323	73636323	8661	13	C	A	A	17	17	KLF5	A	2	2
SLITRK6	84189	broad.mit.edu	37	13	86368590	86368590	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:86368590G>T	uc001vll.1	-	2	2513	c.2054C>A	c.(2053-2055)CCC>CAC	p.P685H	SLITRK6_uc010afe.1_Intron	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	685	Cytoplasmic (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)														---	---	---	---	capture		Missense_Mutation	SNP	86368590	86368590	15245	13	G	T	T	43	43	SLITRK6	T	2	2
HS6ST3	266722	broad.mit.edu	37	13	97485376	97485376	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:97485376A>T	uc001vmw.2	+	2	1364	c.1340A>T	c.(1339-1341)CAC>CTC	p.H447L		NM_153456	NP_703157	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	447	Lumenal (Potential).					integral to membrane	sulfotransferase activity			ovary(1)|skin(1)	2	all_neural(89;0.0878)|Medulloblastoma(90;0.163)																	---	---	---	---	capture		Missense_Mutation	SNP	97485376	97485376	7666	13	A	T	T	6	6	HS6ST3	T	4	4
STK24	8428	broad.mit.edu	37	13	99114079	99114079	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99114079G>T	uc001vnm.1	-	8	1273	c.1038C>A	c.(1036-1038)CCC>CCA	p.P346P	STK24_uc001vnn.1_Silent_p.P334P|STK24_uc010tim.1_Silent_p.P315P	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24 isoform a	346					cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)															---	---	---	---	capture		Silent	SNP	99114079	99114079	15813	13	G	T	T	47	47	STK24	T	2	2
TMTC4	84899	broad.mit.edu	37	13	101257378	101257378	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101257378C>A	uc001vou.2	-	18	2256	c.2096G>T	c.(2095-2097)TGG>TTG	p.W699L	TMTC4_uc001vot.2_Missense_Mutation_p.W718L|TMTC4_uc010tja.1_Missense_Mutation_p.W588L	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	699	TPR 8.					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---	capture		Missense_Mutation	SNP	101257378	101257378	16804	13	C	A	A	21	21	TMTC4	A	2	2
POTEG	404785	broad.mit.edu	37	14	19553744	19553744	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19553744A>T	uc001vuz.1	+	1	380	c.328A>T	c.(328-330)AGG>TGG	p.R110W	POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	110										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19553744	19553744	12696	14	A	T	T	7	7	POTEG	T	4	4
OR4N2	390429	broad.mit.edu	37	14	20295680	20295680	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20295680C>A	uc010tkv.1	+	1	73	c.73C>A	c.(73-75)CTC>ATC	p.L25I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	25	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25L(1)		ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	20295680	20295680	11487	14	C	A	A	28	28	OR4N2	A	2	2
TEP1	7011	broad.mit.edu	37	14	20853162	20853162	+	Missense_Mutation	SNP	C	A	A	rs145122151		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20853162C>A	uc001vxe.2	-	21	3129	c.3089G>T	c.(3088-3090)CGG>CTG	p.R1030L	TEP1_uc010ahk.2_Missense_Mutation_p.R380L|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.R922L|TEP1_uc010tlh.1_5'Flank	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1030					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)														---	---	---	---	capture		Missense_Mutation	SNP	20853162	20853162	16286	14	C	A	A	23	23	TEP1	A	1	1
RNASE4	6038	broad.mit.edu	37	14	21167824	21167824	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21167824C>A	uc001vxy.3	+	2	857	c.294C>A	c.(292-294)AAC>AAA	p.N98K	RNASE4_uc001vxx.3_RNA|RNASE4_uc001vya.2_Missense_Mutation_p.N98K	NM_002937	NP_002928	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4 precursor	98					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)	1	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)														---	---	---	---	capture		Missense_Mutation	SNP	21167824	21167824	13883	14	C	A	A	20	20	RNASE4	A	2	2
TGM1	7051	broad.mit.edu	37	14	24731311	24731311	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24731311C>A	uc001wod.2	-	2	372	c.248G>T	c.(247-249)CGG>CTG	p.R83L	TGM1_uc010tog.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	transglutaminase 1	83	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	24731311	24731311	16357	14	C	A	A	23	23	TGM1	A	1	1
FSCB	84075	broad.mit.edu	37	14	44975152	44975152	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:44975152G>T	uc001wvn.2	-	1	1348	c.1039C>A	c.(1039-1041)CTG>ATG	p.L347M		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	347	Pro-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)														---	---	---	---	capture		Missense_Mutation	SNP	44975152	44975152	6316	14	G	T	T	33	33	FSCB	T	2	2
FRMD6	122786	broad.mit.edu	37	14	52171516	52171516	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52171516C>G	uc001wzd.2	+	6	706	c.421C>G	c.(421-423)CTT>GTT	p.L141V	FRMD6_uc001wzb.2_Missense_Mutation_p.L133V|FRMD6_uc001wzc.2_Missense_Mutation_p.L133V|FRMD6_uc001wze.2_Missense_Mutation_p.L64V	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	141	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			ovary(1)|breast(1)|central_nervous_system(1)	3	all_epithelial(31;0.0163)|Breast(41;0.089)																	---	---	---	---	capture		Missense_Mutation	SNP	52171516	52171516	6304	14	C	G	G	32	32	FRMD6	G	3	3
ARID4A	5926	broad.mit.edu	37	14	58796253	58796253	+	Missense_Mutation	SNP	A	G	G	rs138296226	byFrequency	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58796253A>G	uc001xdp.2	+	10	924	c.670A>G	c.(670-672)ATA>GTA	p.I224V	ARID4A_uc001xdo.2_Missense_Mutation_p.I224V|ARID4A_uc001xdq.2_Missense_Mutation_p.I224V|ARID4A_uc010apg.1_5'Flank	NM_002892	NP_002883	P29374	ARI4A_HUMAN	retinoblastoma-binding protein 1 isoform I	224					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	58796253	58796253	934	14	A	G	G	16	16	ARID4A	G	4	4
TOMM20L	387990	broad.mit.edu	37	14	58869446	58869446	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58869446G>T	uc001xdr.1	+	3	261	c.229G>T	c.(229-231)GAG>TAG	p.E77*	TOMM20L_uc010trq.1_Intron	NM_207377	NP_997260	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20	77	Cytoplasmic (Potential).				protein targeting	integral to membrane|mitochondrial outer membrane translocase complex					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	58869446	58869446	16896	14	G	T	T	33	33	TOMM20L	T	5	2
RAB15	376267	broad.mit.edu	37	14	65417054	65417054	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65417054G>T	uc001xhz.2	-	5	615	c.534C>A	c.(532-534)AGC>AGA	p.S178R	FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA	NM_198686	NP_941959	P59190	RAB15_HUMAN	RAB15, member RAS onocogene family	Error:Variant_position_missing_in_P59190_after_alignment					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			ovary(1)	1				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)														---	---	---	---	capture		Missense_Mutation	SNP	65417054	65417054	13360	14	G	T	T	46	46	RAB15	T	2	2
PLEKHH1	57475	broad.mit.edu	37	14	68053885	68053885	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68053885G>T	uc001xjl.1	+	29	4170	c.4028G>T	c.(4027-4029)TGG>TTG	p.W1343L	PLEKHH1_uc010tsw.1_Missense_Mutation_p.W911L|PLEKHH1_uc001xjn.1_Missense_Mutation_p.W858L|PLEKHH1_uc010tsx.1_Silent_p.V284V|PLEKHH1_uc001xjo.1_3'UTR|PLEKHH1_uc001xjp.1_Missense_Mutation_p.W208L	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H	1343						cytoskeleton	binding				0				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)														---	---	---	---	capture		Missense_Mutation	SNP	68053885	68053885	12502	14	G	T	T	47	47	PLEKHH1	T	2	2
ADAM20	8748	broad.mit.edu	37	14	70989667	70989667	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:70989667G>T	uc001xme.2	-	2	2203	c.1958C>A	c.(1957-1959)CCT>CAT	p.P653H		NM_003814	NP_003805	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20 preproprotein	603	Cys-rich.|Extracellular (Potential).				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)														---	---	---	---	capture		Missense_Mutation	SNP	70989667	70989667	243	14	G	T	T	35	35	ADAM20	T	2	2
TTLL5	23093	broad.mit.edu	37	14	76232418	76232418	+	Silent	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76232418A>G	uc001xrx.2	+	20	1927	c.1722A>G	c.(1720-1722)CCA>CCG	p.P574P	TTLL5_uc010ask.1_Silent_p.P588P|TTLL5_uc001xrz.2_Silent_p.P149P|TTLL5_uc001xry.1_RNA	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	574					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.029)														---	---	---	---	capture		Silent	SNP	76232418	76232418	17285	14	A	G	G	7	7	TTLL5	G	4	4
ASB2	51676	broad.mit.edu	37	14	94419793	94419793	+	Missense_Mutation	SNP	G	C	C	rs113529772		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94419793G>C	uc001ycc.1	-	3	884	c.395C>G	c.(394-396)ACG>AGG	p.T132R	ASB2_uc001ycd.2_Missense_Mutation_p.T180R|ASB2_uc001yce.1_Missense_Mutation_p.T78R	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box-containing protein	132	ANK 3.				intracellular signal transduction					ovary(1)|pancreas(1)	2		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)														---	---	---	---	capture		Missense_Mutation	SNP	94419793	94419793	1041	14	G	C	C	40	40	ASB2	C	3	3
DICER1	23405	broad.mit.edu	37	14	95570126	95570126	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95570126T>A	uc001ydw.2	-	22	3789	c.3607A>T	c.(3607-3609)AAT>TAT	p.N1203Y	DICER1_uc010avh.1_Missense_Mutation_p.N101Y|DICER1_uc001ydv.2_Missense_Mutation_p.N1193Y|DICER1_uc001ydx.2_Missense_Mutation_p.N1203Y|DICER1_uc001ydy.1_Missense_Mutation_p.N55Y	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1203					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)				Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_				---	---	---	---	capture		Missense_Mutation	SNP	95570126	95570126	4700	14	T	A	A	64	64	DICER1	A	4	4
DYNC1H1	1778	broad.mit.edu	37	14	102515776	102515776	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102515776G>T	uc001yks.2	+	75	13537	c.13373_splice	c.e75-1	p.G4458_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	102515776	102515776	5027	14	G	T	T	35	35	DYNC1H1	T	5	2
SIVA1	10572	broad.mit.edu	37	14	105222016	105222016	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105222016C>G	uc001yph.2	+	2	237	c.168C>G	c.(166-168)CAC>CAG	p.H56Q	INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Missense_Mutation_p.H56Q|SIVA1_uc001ypg.1_Missense_Mutation_p.H56Q|SIVA1_uc001ypi.2_Intron	NM_006427	NP_006418	O15304	SIVA_HUMAN	CD27-binding (Siva) protein isoform 1	56					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding				0		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)														---	---	---	---	capture		Missense_Mutation	SNP	105222016	105222016	14840	14	C	G	G	19	19	SIVA1	G	3	3
AHNAK2	113146	broad.mit.edu	37	14	105413877	105413877	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105413877G>C	uc010axc.1	-	7	8031	c.7911C>G	c.(7909-7911)GCC>GCG	p.A2637A	AHNAK2_uc001ypx.2_Silent_p.A2537A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2637						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Silent	SNP	105413877	105413877	418	14	G	C	C	39	39	AHNAK2	C	3	3
AHNAK2	113146	broad.mit.edu	37	14	105419955	105419955	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105419955C>A	uc010axc.1	-	7	1953	c.1833G>T	c.(1831-1833)CAG>CAT	p.Q611H	AHNAK2_uc001ypx.2_Missense_Mutation_p.Q511H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	611						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	105419955	105419955	418	14	C	A	A	24	24	AHNAK2	A	2	2
C14orf79	122616	broad.mit.edu	37	14	105457937	105457937	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105457937G>T	uc001ypy.1	+	3	832	c.679G>T	c.(679-681)GGA>TGA	p.G227*	C14orf79_uc001ypz.1_RNA|C14orf79_uc010tym.1_RNA	NM_174891	NP_777551	Q96F83	CN079_HUMAN	hypothetical protein LOC122616	227											0		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)															---	---	---	---	capture		Nonsense_Mutation	SNP	105457937	105457937	1830	14	G	T	T	39	39	C14orf79	T	5	1
NDN	4692	broad.mit.edu	37	15	23931540	23931540	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23931540G>T	uc001ywk.2	-	1	911	c.825C>A	c.(823-825)ATC>ATA	p.I275I		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	275	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	23931540	23931540	10646	15	G	T	T	45	45	NDN	T	2	2
ATP10A	57194	broad.mit.edu	37	15	25925069	25925069	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25925069C>A	uc010ayu.2	-	21	4025	c.3919G>T	c.(3919-3921)GCA>TCA	p.A1307S		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1307	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)														---	---	---	---	capture		Missense_Mutation	SNP	25925069	25925069	1135	15	C	A	A	26	26	ATP10A	A	2	2
GABRB3	2562	broad.mit.edu	37	15	26793083	26793083	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:26793083G>T	uc001zaz.2	-	9	1421	c.1279C>A	c.(1279-1281)CAT>AAT	p.H427N	GABRB3_uc010uae.1_Missense_Mutation_p.H342N|GABRB3_uc001zba.2_Missense_Mutation_p.H427N|GABRB3_uc001zbb.2_Missense_Mutation_p.H483N	NM_000814	NP_000805	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	427	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)													---	---	---	---	capture		Missense_Mutation	SNP	26793083	26793083	6419	15	G	T	T	47	47	GABRB3	T	2	2
FSIP1	161835	broad.mit.edu	37	15	39910398	39910398	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:39910398C>A	uc001zki.2	-	11	1455	c.1237G>T	c.(1237-1239)GAT>TAT	p.D413Y		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	413										ovary(2)|skin(1)	3		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)														---	---	---	---	capture		Missense_Mutation	SNP	39910398	39910398	6325	15	C	A	A	30	30	FSIP1	A	2	2
CHP	11261	broad.mit.edu	37	15	41570972	41570972	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41570972G>T	uc001znl.2	+	6	563	c.419G>T	c.(418-420)CGC>CTC	p.R140L	CHP_uc010bcd.1_5'Flank	NM_007236	NP_009167	Q99653	CHP1_HUMAN	calcium binding protein P22	140	EF-hand 3.				potassium ion transport|small GTPase mediated signal transduction		potassium channel regulator activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;5.87e-16)|Lung NSC(122;8.86e-12)|all_lung(180;2.47e-10)|Melanoma(134;0.0574)|Colorectal(260;0.0946)|Ovarian(310;0.143)		GBM - Glioblastoma multiforme(113;1.68e-06)|LUSC - Lung squamous cell carcinoma(244;0.008)|Lung(196;0.00802)|BRCA - Breast invasive adenocarcinoma(123;0.169)														---	---	---	---	capture		Missense_Mutation	SNP	41570972	41570972	3500	15	G	T	T	38	38	CHP	T	1	1
LTK	4058	broad.mit.edu	37	15	41800405	41800405	+	Nonsense_Mutation	SNP	C	A	A	rs141049740		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41800405C>A	uc001zoa.3	-	9	1289	c.1111G>T	c.(1111-1113)GGA>TGA	p.G371*	LTK_uc001zob.3_Nonsense_Mutation_p.G310*|LTK_uc010ucx.1_Nonsense_Mutation_p.G310*|LTK_uc010bcg.2_Nonsense_Mutation_p.G53*	NM_002344	NP_002335	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase isoform 1	371	Extracellular (Potential).				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)											TSP Lung(18;0.14)			---	---	---	---	capture		Nonsense_Mutation	SNP	41800405	41800405	9456	15	C	A	A	23	23	LTK	A	5	1
TYRO3	7301	broad.mit.edu	37	15	41862286	41862286	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41862286G>A	uc001zof.1	+	10	1538	c.1314G>A	c.(1312-1314)ACG>ACA	p.T438T		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase precursor	438	Helical; (Potential).					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			ovary(3)|lung(2)|central_nervous_system(1)	6		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---	capture		Silent	SNP	41862286	41862286	17371	15	G	A	A	39	39	TYRO3	A	1	1
CAPN3	825	broad.mit.edu	37	15	42702687	42702687	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42702687C>T	uc001zpn.1	+	20	2483	c.2177C>T	c.(2176-2178)GCC>GTC	p.A726V	CAPN3_uc001zpk.1_Missense_Mutation_p.A493V|CAPN3_uc001zpl.1_Missense_Mutation_p.A633V|CAPN3_uc010udf.1_Missense_Mutation_p.A639V|CAPN3_uc010udg.1_Missense_Mutation_p.A591V|CAPN3_uc001zpo.1_Missense_Mutation_p.A720V|CAPN3_uc001zpp.1_Missense_Mutation_p.A634V|CAPN3_uc001zpq.1_Missense_Mutation_p.A214V|CAPN3_uc010bcv.1_Missense_Mutation_p.A61V|CAPN3_uc001zpr.1_Missense_Mutation_p.A61V|CAPN3_uc001zps.1_Missense_Mutation_p.A61V|CAPN3_uc001zpt.1_Missense_Mutation_p.A61V	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	726	EF-hand 3.|Domain IV.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			central_nervous_system(1)	1		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)														---	---	---	---	capture		Missense_Mutation	SNP	42702687	42702687	2746	15	C	T	T	26	26	CAPN3	T	2	2
CEP152	22995	broad.mit.edu	37	15	49064722	49064722	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49064722G>T	uc001zwy.2	-	13	1778	c.1744C>A	c.(1744-1746)CAC>AAC	p.H582N	CEP152_uc001zwz.2_Missense_Mutation_p.H582N|CEP152_uc001zxa.1_Missense_Mutation_p.H489N	NM_014985	NP_055800	O94986	CE152_HUMAN	centrosomal protein 152kDa	582					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			lung(2)	2		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)														---	---	---	---	capture		Missense_Mutation	SNP	49064722	49064722	3381	15	G	T	T	47	47	CEP152	T	2	2
ATP8B4	79895	broad.mit.edu	37	15	50152498	50152498	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50152498C>T	uc001zxu.2	-	28	3614	c.3472G>A	c.(3472-3474)GGG>AGG	p.G1158R	ATP8B4_uc010ber.2_Missense_Mutation_p.G1031R|ATP8B4_uc010ufd.1_Missense_Mutation_p.G968R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.G161R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1158	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)														---	---	---	---	capture		Missense_Mutation	SNP	50152498	50152498	1216	15	C	T	T	24	24	ATP8B4	T	2	2
GCNT3	9245	broad.mit.edu	37	15	59911617	59911617	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59911617G>T	uc002age.2	+	3	1629	c.1180G>T	c.(1180-1182)GGG>TGG	p.G394W	GCNT3_uc002agd.2_Missense_Mutation_p.G394W	NM_004751	NP_004742	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin	394	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	59911617	59911617	6568	15	G	T	T	47	47	GCNT3	T	2	2
RORA	6095	broad.mit.edu	37	15	60919479	60919479	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:60919479C>G	uc002agv.2	-	1	251	c.95G>C	c.(94-96)AGA>ACA	p.R32T	RORA_uc002agw.2_Missense_Mutation_p.R32T|RORA_uc002agx.2_Intron	NM_134260	NP_599022	P35398	RORA_HUMAN	RAR-related orphan receptor A isoform b	32	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	60919479	60919479	14007	15	C	G	G	32	32	RORA	G	3	3
SPESP1	246777	broad.mit.edu	37	15	69238616	69238616	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69238616C>A	uc002arn.1	+	2	871	c.743C>A	c.(742-744)CCA>CAA	p.P248Q	NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1 precursor	248					multicellular organismal development	acrosomal vesicle					0																		---	---	---	---	capture		Missense_Mutation	SNP	69238616	69238616	15552	15	C	A	A	21	21	SPESP1	A	2	2
EDC3	80153	broad.mit.edu	37	15	74948102	74948102	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74948102G>T	uc002ayn.2	-	7	1280	c.792C>A	c.(790-792)CCC>CCA	p.P264P	EDC3_uc002ayo.2_Silent_p.P264P|EDC3_uc002aym.2_Silent_p.P264P	NM_001142443	NP_001135915	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	264	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	74948102	74948102	5094	15	G	T	T	43	43	EDC3	T	2	2
NEIL1	79661	broad.mit.edu	37	15	75644693	75644693	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75644693C>T	uc002bad.2	+	4	1089	c.583C>T	c.(583-585)CGC>TGC	p.R195C	NEIL1_uc002bae.2_Missense_Mutation_p.R281C	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1	195					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			ovary(1)	1													BER_DNA_glycosylases					---	---	---	---	capture		Missense_Mutation	SNP	75644693	75644693	10717	15	C	T	T	23	23	NEIL1	T	1	1
ALPK3	57538	broad.mit.edu	37	15	85400738	85400738	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85400738C>G	uc002ble.2	+	6	3542	c.3375C>G	c.(3373-3375)CAC>CAG	p.H1125Q		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1125					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---	capture		Missense_Mutation	SNP	85400738	85400738	549	15	C	G	G	18	18	ALPK3	G	3	3
PRC1	9055	broad.mit.edu	37	15	91528042	91528042	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91528042C>A	uc002bqm.2	-	2	182	c.25G>T	c.(25-27)GAG>TAG	p.E9*	PRC1_uc002bqn.2_Nonsense_Mutation_p.E9*|PRC1_uc002bqo.2_Nonsense_Mutation_p.E9*|PRC1_uc010uqs.1_Nonsense_Mutation_p.E9*|PRC1_uc010uqt.1_Intron	NM_003981	NP_003972	O43663	PRC1_HUMAN	protein regulator of cytokinesis 1 isoform 1	9	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			ovary(1)|skin(1)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)																	---	---	---	---	capture		Nonsense_Mutation	SNP	91528042	91528042	12888	15	C	A	A	30	30	PRC1	A	5	2
ST8SIA2	8128	broad.mit.edu	37	15	92981701	92981701	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:92981701C>A	uc002bra.2	+	4	564	c.409C>A	c.(409-411)CAG>AAG	p.Q137K	ST8SIA2_uc002brb.2_Missense_Mutation_p.Q116K	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide	137	Lumenal (Potential).				axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity				0	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)															---	---	---	---	capture		Missense_Mutation	SNP	92981701	92981701	15750	15	C	A	A	21	21	ST8SIA2	A	2	2
CACNA1H	8912	broad.mit.edu	37	16	1250520	1250520	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1250520C>T	uc002cks.2	+	7	1316	c.1068C>T	c.(1066-1068)AAC>AAT	p.N356N	CACNA1H_uc002ckt.2_Silent_p.N356N	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	356	Extracellular (Potential).|I.				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)													---	---	---	---	capture		Silent	SNP	1250520	1250520	2661	16	C	T	T	19	19	CACNA1H	T	1	1
HN1L	90861	broad.mit.edu	37	16	1741936	1741936	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1741936G>T	uc002cmg.2	+	3	322	c.286G>T	c.(286-288)GGG>TGG	p.G96W	HN1L_uc010uvi.1_Missense_Mutation_p.G124W|HN1L_uc010brt.2_RNA|HN1L_uc010bru.2_Intron|HN1L_uc010uvj.1_Intron|HN1L_uc010uvk.1_Missense_Mutation_p.G83W	NM_144570	NP_653171	Q9H910	HN1L_HUMAN	hematological and neurological expressed 1-like	96						cytoplasm|nucleus				upper_aerodigestive_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	1741936	1741936	7542	16	G	T	T	47	47	HN1L	T	2	2
ABCA3	21	broad.mit.edu	37	16	2331210	2331210	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2331210G>T	uc002cpy.1	-	28	4889	c.4177C>A	c.(4177-4179)CGG>AGG	p.R1393R	ABCA3_uc010bsk.1_Silent_p.R1335R	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1393	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)																---	---	---	---	capture		Silent	SNP	2331210	2331210	34	16	G	T	T	38	38	ABCA3	T	1	1
CCNF	899	broad.mit.edu	37	16	2499864	2499864	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2499864G>T	uc002cqd.1	+	13	1523	c.1435G>T	c.(1435-1437)GGA>TGA	p.G479*	CCNF_uc002cqe.1_Nonsense_Mutation_p.G171*	NM_001761	NP_001752	P41002	CCNF_HUMAN	cyclin F	479					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			central_nervous_system(1)|kidney(1)	2		Ovarian(90;0.17)																---	---	---	---	capture		Nonsense_Mutation	SNP	2499864	2499864	3049	16	G	T	T	39	39	CCNF	T	5	1
ATF7IP2	80063	broad.mit.edu	37	16	10574799	10574799	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10574799C>A	uc002czu.2	+	11	1840	c.1613C>A	c.(1612-1614)CCA>CAA	p.P538Q	ATF7IP2_uc002czv.2_Missense_Mutation_p.H516N|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Missense_Mutation_p.P82Q|ATF7IP2_uc002czw.2_Missense_Mutation_p.P538Q|ATF7IP2_uc010uyq.1_RNA	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---	capture		Missense_Mutation	SNP	10574799	10574799	1107	16	C	A	A	21	21	ATF7IP2	A	2	2
NOMO1	23420	broad.mit.edu	37	16	14982985	14982985	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:14982985C>A	uc002dcv.2	+	29	3423	c.3357C>A	c.(3355-3357)CCC>CCA	p.P1119P		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1 precursor	1119	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	14982985	14982985	10934	16	C	A	A	21	21	NOMO1	A	2	2
NDUFAB1	4706	broad.mit.edu	37	16	23607476	23607476	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23607476C>G	uc002dlw.2	-	1	164	c.136G>C	c.(136-138)GGG>CGG	p.G46R		NM_005003	NP_004994	O14561	ACPM_HUMAN	NADH dehydrogenase (ubiquinone) 1, alpha/beta	46					fatty acid biosynthetic process|mitochondrial electron transport, NADH to ubiquinone	mitochondrial matrix|mitochondrial respiratory chain complex I	acyl carrier activity|calcium ion binding|cofactor binding|fatty acid binding|NADH dehydrogenase (ubiquinone) activity|phosphopantetheine binding				0				GBM - Glioblastoma multiforme(48;0.0339)	NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	23607476	23607476	10672	16	C	G	G	23	23	NDUFAB1	G	3	3
KIAA0556	23247	broad.mit.edu	37	16	27732878	27732878	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27732878G>T	uc002dow.2	+	14	1630	c.1606_splice	c.e14-1	p.G536_splice	KIAA0556_uc002dox.1_Splice_Site_p.G444_splice	NM_015202	NP_056017			hypothetical protein LOC23247											ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1)	8																		---	---	---	---	capture		Splice_Site	SNP	27732878	27732878	8490	16	G	T	T	35	35	KIAA0556	T	5	2
GSG1L	146395	broad.mit.edu	37	16	27818807	27818807	+	Splice_Site	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27818807C>T	uc002doz.2	-	6	983	c.898_splice	c.e6+1	p.R300_splice	GSG1L_uc010bya.1_Splice_Site_p.R249_splice|GSG1L_uc010bxz.1_Splice_Site_p.R163_splice|GSG1L_uc002doy.2_Splice_Site_p.R145_splice	NM_001109763	NP_001103233			GSG1-like isoform 1							integral to membrane				ovary(1)	1																		---	---	---	---	capture		Splice_Site	SNP	27818807	27818807	7101	16	C	T	T	19	19	GSG1L	T	5	1
TAOK2	9344	broad.mit.edu	37	16	29996661	29996661	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29996661G>T	uc002dva.1	+	14	2333	c.1550G>T	c.(1549-1551)CGG>CTG	p.R517L	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.R517L|TAOK2_uc002dvc.1_Missense_Mutation_p.R517L|TAOK2_uc010bzm.1_Missense_Mutation_p.R524L|TAOK2_uc002dvd.1_Missense_Mutation_p.R344L	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	517	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	29996661	29996661	16069	16	G	T	T	39	39	TAOK2	T	1	1
NOD2	64127	broad.mit.edu	37	16	50744691	50744691	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50744691A>T	uc002egm.1	+	4	974	c.869A>T	c.(868-870)GAC>GTC	p.D290V	NOD2_uc010cbk.1_Missense_Mutation_p.D263V|NOD2_uc002egl.1_Missense_Mutation_p.D68V|NOD2_uc010cbl.1_Missense_Mutation_p.D68V|NOD2_uc010cbm.1_Missense_Mutation_p.D68V|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain	290					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			ovary(3)|skin(1)	4		all_cancers(37;0.0156)																---	---	---	---	capture		Missense_Mutation	SNP	50744691	50744691	10920	16	A	T	T	10	10	NOD2	T	4	4
C16orf57	79650	broad.mit.edu	37	16	58036523	58036523	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58036523A>G	uc002emz.2	+	2	322	c.239A>G	c.(238-240)AAC>AGC	p.N80S	ZNF319_uc002emx.1_5'Flank|C16orf57_uc010via.1_Missense_Mutation_p.N80S|C16orf57_uc002emy.2_RNA|C16orf57_uc010vib.1_Missense_Mutation_p.N80S|C16orf57_uc010vic.1_Missense_Mutation_p.N29S	NM_024598	NP_078874	Q9BQ65	CP057_HUMAN	hypothetical protein LOC79650	80											0																		---	---	---	---	capture		Missense_Mutation	SNP	58036523	58036523	1874	16	A	G	G	2	2	C16orf57	G	4	4
ZNF23	7571	broad.mit.edu	37	16	71487152	71487152	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71487152G>T	uc002faf.2	-	5	950	c.136C>A	c.(136-138)CAG>AAG	p.Q46K	ZNF23_uc002fad.2_5'UTR|ZNF23_uc002fae.2_5'UTR|ZNF23_uc010vmf.1_Intron|ZNF23_uc002fag.2_5'UTR|ZNF23_uc002fah.2_Missense_Mutation_p.Q46K|ZNF23_uc002fai.2_Missense_Mutation_p.Q84K	NM_145911	NP_666016	P17027	ZNF23_HUMAN	zinc finger protein 23	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)														---	---	---	---	capture		Missense_Mutation	SNP	71487152	71487152	18374	16	G	T	T	47	47	ZNF23	T	2	2
HPR	3250	broad.mit.edu	37	16	72107797	72107797	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72107797G>T	uc002fby.2	+	2	42	c.12G>T	c.(10-12)CTG>CTT	p.L4L	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	haptoglobin-related protein precursor	4					proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)	1		Ovarian(137;0.125)																---	---	---	---	capture		Silent	SNP	72107797	72107797	7629	16	G	T	T	47	47	HPR	T	2	2
CDYL2	124359	broad.mit.edu	37	16	80718954	80718954	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:80718954C>G	uc002ffs.2	-	2	202	c.97G>C	c.(97-99)GGG>CGG	p.G33R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	33	Chromo.					nucleus	catalytic activity|protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	80718954	80718954	3319	16	C	G	G	23	23	CDYL2	G	3	3
TAF1C	9013	broad.mit.edu	37	16	84217069	84217069	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84217069C>A	uc002fhn.2	-	4	493	c.265G>T	c.(265-267)GGA>TGA	p.G89*	TAF1C_uc002fhm.2_Nonsense_Mutation_p.G22*|TAF1C_uc010vnx.1_Nonsense_Mutation_p.G89*|TAF1C_uc010vny.1_5'UTR|TAF1C_uc010vnz.1_5'UTR|TAF1C_uc002fho.2_5'UTR|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Nonsense_Mutation_p.G89*	NM_005679	NP_005670	Q15572	TAF1C_HUMAN	TBP-associated factor 1C isoform 1	89					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	84217069	84217069	16042	16	C	A	A	23	23	TAF1C	A	5	1
POLR2A	5430	broad.mit.edu	37	17	7415644	7415644	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7415644C>T	uc002ghf.3	+	26	4707	c.4473C>T	c.(4471-4473)CCC>CCT	p.P1491P		NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	1491					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)																---	---	---	---	capture		Silent	SNP	7415644	7415644	12642	17	C	T	T	23	23	POLR2A	T	1	1
DHRS7C	201140	broad.mit.edu	37	17	9694599	9694599	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9694599C>A	uc010vvb.1	-	1	3	c.3G>T	c.(1-3)ATG>ATT	p.M1I	DHRS7C_uc010cof.2_Missense_Mutation_p.M1I	NM_001105571	NP_001099041	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	1						extracellular region	binding|oxidoreductase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	9694599	9694599	4676	17	C	A	A	21	21	DHRS7C	A	2	2
MYH13	8735	broad.mit.edu	37	17	10215277	10215277	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10215277C>T	uc002gmk.1	-	32	4572	c.4482G>A	c.(4480-4482)GAG>GAA	p.E1494E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1494	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---	capture		Silent	SNP	10215277	10215277	10427	17	C	T	T	24	24	MYH13	T	2	2
ZNF624	57547	broad.mit.edu	37	17	16526040	16526040	+	Silent	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16526040T>C	uc010cpi.1	-	6	2243	c.2160A>G	c.(2158-2160)GGA>GGG	p.G720G		NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---	capture		Silent	SNP	16526040	16526040	18643	17	T	C	C	54	54	ZNF624	C	4	4
EVI2B	2124	broad.mit.edu	37	17	29632186	29632186	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29632186G>T	uc002hgk.2	-	2	597	c.442C>A	c.(442-444)CAA>AAA	p.Q148K	NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.Q163K	NM_006495	NP_006486	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B precursor	148	Extracellular (Potential).					cytoplasm|integral to plasma membrane				ovary(2)	2		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)														---	---	---	---	capture		Missense_Mutation	SNP	29632186	29632186	5481	17	G	T	T	45	45	EVI2B	T	2	2
AMAC1	146861	broad.mit.edu	37	17	33520550	33520550	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33520550C>A	uc002hjd.2	-	1	863	c.777G>T	c.(775-777)GTG>GTT	p.V259V		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	acyl-malonyl condensing enzyme 1	259	Helical; (Potential).					integral to membrane					0				BRCA - Breast invasive adenocarcinoma(366;0.0917)														---	---	---	---	capture		Silent	SNP	33520550	33520550	562	17	C	A	A	21	21	AMAC1	A	2	2
KRTAP3-1	83896	broad.mit.edu	37	17	39165091	39165091	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39165091C>G	uc002hvt.1	-	1	276	c.236G>C	c.(235-237)GGG>GCG	p.G79A		NM_031958	NP_114164	Q9BYR8	KRA31_HUMAN	keratin associated protein 3.1	79						keratin filament	structural molecule activity				0		Breast(137;0.00043)																---	---	---	---	capture		Missense_Mutation	SNP	39165091	39165091	8867	17	C	G	G	22	22	KRTAP3-1	G	3	3
KRTAP4-5	85289	broad.mit.edu	37	17	39305582	39305582	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39305582G>T	uc002hwb.2	-	1	473	c.438C>A	c.(436-438)TGC>TGA	p.C146*		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	151	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|27.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)															---	---	---	---	capture		Nonsense_Mutation	SNP	39305582	39305582	8876	17	G	T	T	38	38	KRTAP4-5	T	5	1
TMUB2	79089	broad.mit.edu	37	17	42268176	42268176	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42268176C>A	uc002ifo.2	+	4	1067	c.910C>A	c.(910-912)CTG>ATG	p.L304M	TMUB2_uc002ifp.2_Missense_Mutation_p.L284M|TMUB2_uc010wiu.1_Missense_Mutation_p.L247M|TMUB2_uc002ifq.2_Missense_Mutation_p.L304M|TMUB2_uc002ifr.2_3'UTR|TMUB2_uc002ifs.2_Missense_Mutation_p.L135M|TMUB2_uc002ift.2_Missense_Mutation_p.L284M|TMUB2_uc002ifu.2_3'UTR|TMUB2_uc002ifv.2_Missense_Mutation_p.L284M|TMUB2_uc002ifx.2_3'UTR|TMUB2_uc002ify.2_RNA	NM_001076674	NP_001070142	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain	304	Helical; (Potential).					integral to membrane				lung(1)	1		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)														---	---	---	---	capture		Missense_Mutation	SNP	42268176	42268176	16806	17	C	A	A	24	24	TMUB2	A	2	2
DBF4B	80174	broad.mit.edu	37	17	42807437	42807437	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42807437C>A	uc002ihf.2	+	4	603	c.390C>A	c.(388-390)CCC>CCA	p.P130P	DBF4B_uc002ihd.1_Silent_p.P130P|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_Silent_p.P114P|DBF4B_uc002ihg.2_Silent_p.P114P	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B isoform 1	130	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding				0		Prostate(33;0.0322)																---	---	---	---	capture		Silent	SNP	42807437	42807437	4420	17	C	A	A	21	21	DBF4B	A	2	2
CDC27	996	broad.mit.edu	37	17	45219285	45219285	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45219285G>C	uc002ild.3	-	12	1612	c.1485C>G	c.(1483-1485)CAC>CAG	p.H495Q	CDC27_uc002ile.3_Missense_Mutation_p.H501Q|CDC27_uc002ilf.3_Missense_Mutation_p.H494Q|CDC27_uc010wkp.1_Missense_Mutation_p.H434Q|CDC27_uc010wkq.1_Intron	NM_001256	NP_001247	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 2	495					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			lung(2)|breast(2)|ovary(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	45219285	45219285	3194	17	G	C	C	36	36	CDC27	C	3	3
MYCBPAP	84073	broad.mit.edu	37	17	48606520	48606520	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48606520G>T	uc010wmr.1	+	18	2986	c.2824G>T	c.(2824-2826)GGG>TGG	p.G942W	MYCBPAP_uc002iqz.2_RNA	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Myc-binding protein-associated protein	905					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			urinary_tract(2)|skin(2)|ovary(1)|pancreas(1)	6	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)															---	---	---	---	capture		Missense_Mutation	SNP	48606520	48606520	10414	17	G	T	T	43	43	MYCBPAP	T	2	2
ANKFN1	162282	broad.mit.edu	37	17	54451996	54451996	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:54451996G>T	uc002iun.1	+	7	875	c.840G>T	c.(838-840)ATG>ATT	p.M280I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain	280	Fibronectin type-III.									large_intestine(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	54451996	54451996	628	17	G	T	T	47	47	ANKFN1	T	2	2
MPO	4353	broad.mit.edu	37	17	56350171	56350171	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56350171A>T	uc002ivu.1	-	10	1907	c.1730T>A	c.(1729-1731)ATG>AAG	p.M577K		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	577					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		Missense_Mutation	SNP	56350171	56350171	10124	17	A	T	T	8	8	MPO	T	4	4
PPM1E	22843	broad.mit.edu	37	17	57033127	57033127	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57033127G>T	uc002iwx.2	+	2	709	c.582G>T	c.(580-582)GTG>GTT	p.V194V	PPM1E_uc010ddd.2_Missense_Mutation_p.W24L	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	203					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		Silent	SNP	57033127	57033127	12773	17	G	T	T	47	47	PPM1E	T	2	2
PPM1E	22843	broad.mit.edu	37	17	57046942	57046942	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57046942G>T	uc002iwx.2	+	4	953	c.826G>T	c.(826-828)GGG>TGG	p.G276W	PPM1E_uc010ddd.2_Missense_Mutation_p.G39W	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	protein phosphatase 1E	285	PP2C-like.				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		Missense_Mutation	SNP	57046942	57046942	12773	17	G	T	T	47	47	PPM1E	T	2	2
BCAS3	54828	broad.mit.edu	37	17	59024695	59024695	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59024695G>T	uc002iyv.3	+	14	1312	c.1203G>T	c.(1201-1203)AGG>AGT	p.R401S	BCAS3_uc010wow.1_Missense_Mutation_p.R188S|BCAS3_uc002iyu.3_Missense_Mutation_p.R401S|BCAS3_uc002iyw.3_Missense_Mutation_p.R397S|BCAS3_uc002iyx.1_Missense_Mutation_p.R216S|BCAS3_uc002iyy.3_Missense_Mutation_p.R172S	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	401						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---	capture		Missense_Mutation	SNP	59024695	59024695	1373	17	G	T	T	43	43	BCAS3	T	2	2
DDX42	11325	broad.mit.edu	37	17	61885120	61885120	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61885120G>T	uc002jbu.2	+	10	1140	c.883G>T	c.(883-885)GGT>TGT	p.G295C	DDX42_uc002jbv.2_Missense_Mutation_p.G295C|DDX42_uc002jbw.1_Missense_Mutation_p.G31C|DDX42_uc002jbx.2_Missense_Mutation_p.G31C	NM_007372	NP_031398	Q86XP3	DDX42_HUMAN	DEAD box polypeptide 42 protein	295	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	61885120	61885120	4533	17	G	T	T	47	47	DDX42	T	2	2
TEX2	55852	broad.mit.edu	37	17	62272456	62272456	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62272456C>A	uc002jec.2	-	3	1818	c.1645_splice	c.e3-1	p.G549_splice	TEX2_uc002jed.2_Splice_Site_p.G549_splice|TEX2_uc002jee.2_Splice_Site_p.G549_splice	NM_018469	NP_060939			testis expressed sequence 2						signal transduction|sphingolipid metabolic process	integral to membrane				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)														---	---	---	---	capture		Splice_Site	SNP	62272456	62272456	16308	17	C	A	A	24	24	TEX2	A	5	2
GNA13	10672	broad.mit.edu	37	17	63049800	63049800	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63049800C>A	uc002jfc.2	-	2	539	c.330G>T	c.(328-330)TGG>TGT	p.W110C	GNA13_uc010wqh.1_Missense_Mutation_p.W15C	NM_006572	NP_006563	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein),	110					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	63049800	63049800	6770	17	C	A	A	22	22	GNA13	A	2	2
HELZ	9931	broad.mit.edu	37	17	65103298	65103298	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65103298G>T	uc010wqk.1	-	31	5418	c.5231C>A	c.(5230-5232)CCT>CAT	p.P1744H	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.P1743H	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)																	---	---	---	---	capture		Missense_Mutation	SNP	65103298	65103298	7332	17	G	T	T	35	35	HELZ	T	2	2
BPTF	2186	broad.mit.edu	37	17	65918974	65918974	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65918974G>T	uc002jgf.2	+	14	5637	c.5576G>T	c.(5575-5577)AGG>ATG	p.R1859M	BPTF_uc002jge.2_Missense_Mutation_p.R1985M	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1985					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			ovary(2)|skin(2)	4	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	65918974	65918974	1523	17	G	T	T	35	35	BPTF	T	2	2
KCNJ2	3759	broad.mit.edu	37	17	68171272	68171272	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:68171272G>T	uc010dfg.2	+	2	493	c.92G>T	c.(91-93)GGG>GTG	p.G31V	KCNJ2_uc002jir.2_Missense_Mutation_p.G31V	NM_000891	NP_000882	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel J2	31	Cytoplasmic (By similarity).				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding				0	Breast(10;1.64e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	68171272	68171272	8356	17	G	T	T	43	43	KCNJ2	T	2	2
AATK	9625	broad.mit.edu	37	17	79094857	79094857	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79094857G>T	uc010dia.2	-	11	2959	c.2879C>A	c.(2878-2880)CCC>CAC	p.P960H	AATK_uc010dhz.2_Intron	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	960						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)															---	---	---	---	capture		Missense_Mutation	SNP	79094857	79094857	27	17	G	T	T	43	43	AATK	T	2	2
AZI1	22994	broad.mit.edu	37	17	79163715	79163715	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79163715C>A	uc002jzp.1	-	25	3377	c.3177G>T	c.(3175-3177)GAG>GAT	p.E1059D	AZI1_uc002jzm.1_Missense_Mutation_p.E491D|AZI1_uc002jzn.1_Missense_Mutation_p.E1056D|AZI1_uc002jzo.1_Missense_Mutation_p.E1020D|AZI1_uc010wum.1_Missense_Mutation_p.E1023D|AZI1_uc002jzq.2_Missense_Mutation_p.E207D	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1 isoform a	1059					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				central_nervous_system(2)|large_intestine(1)|ovary(1)	4	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)															---	---	---	---	capture		Missense_Mutation	SNP	79163715	79163715	1261	17	C	A	A	24	24	AZI1	A	2	2
MYOM1	8736	broad.mit.edu	37	18	3215013	3215013	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3215013T>A	uc002klp.2	-	2	543	c.209A>T	c.(208-210)CAG>CTG	p.Q70L	MYOM1_uc002klq.2_Missense_Mutation_p.Q70L	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	70						striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	3215013	3215013	10486	18	T	A	A	55	55	MYOM1	A	4	4
MEP1B	4225	broad.mit.edu	37	18	29788191	29788191	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29788191C>A	uc002kxj.3	+	9	923	c.876C>A	c.(874-876)CCC>CCA	p.P292P		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	292	Extracellular (Potential).|MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	29788191	29788191	9865	18	C	A	A	21	21	MEP1B	A	2	2
KATNAL2	83473	broad.mit.edu	37	18	44595926	44595926	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44595926C>A	uc002lco.2	+	10	941	c.747C>A	c.(745-747)TCC>TCA	p.S249S	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.S176S	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	321						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---	capture		Silent	SNP	44595926	44595926	8290	18	C	A	A	21	21	KATNAL2	A	2	2
MBD1	4152	broad.mit.edu	37	18	47799296	47799296	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47799296C>T	uc010dow.1	-	14	2051	c.1614G>A	c.(1612-1614)AAG>AAA	p.K538K	MBD1_uc002lef.2_Silent_p.K243K|MBD1_uc002leg.2_Silent_p.K488K|MBD1_uc010xdi.1_Silent_p.K589K|MBD1_uc002leh.3_Silent_p.K482K|MBD1_uc002len.2_Silent_p.K492K|MBD1_uc002lei.3_Silent_p.K538K|MBD1_uc002lej.3_Silent_p.K436K|MBD1_uc002lek.3_Silent_p.K489K|MBD1_uc002lel.3_Silent_p.K469K|MBD1_uc002lem.3_Silent_p.K538K|MBD1_uc010xdj.1_Silent_p.K436K|MBD1_uc010xdk.1_Silent_p.K563K|MBD1_uc010dox.1_Silent_p.K469K|MBD1_uc002leo.2_Silent_p.K492K	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	538	TRD.			K->A: Abolishes sumoylation; when associated with A-499.	negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	47799296	47799296	9726	18	C	T	T	28	28	MBD1	T	2	2
ZNF236	7776	broad.mit.edu	37	18	74649197	74649197	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74649197G>T	uc002lmi.2	+	26	4872	c.4674G>T	c.(4672-4674)TCG>TCT	p.S1558S	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1558					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---	capture		Silent	SNP	74649197	74649197	18380	18	G	T	T	40	40	ZNF236	T	1	1
GNA15	2769	broad.mit.edu	37	19	3157756	3157756	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3157756G>T	uc002lxf.2	+	6	1033	c.775G>T	c.(775-777)GGG>TGG	p.G259W		NM_002068	NP_002059	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein),	259					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			skin(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)														---	---	---	---	capture		Missense_Mutation	SNP	3157756	3157756	6772	19	G	T	T	47	47	GNA15	T	2	2
CHAF1A	10036	broad.mit.edu	37	19	4430563	4430563	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4430563G>T	uc002mal.2	+	11	1972	c.1872G>T	c.(1870-1872)ATG>ATT	p.M624I		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	624					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			ovary(1)|skin(1)	2		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)									Chromatin_Structure					---	---	---	---	capture		Missense_Mutation	SNP	4430563	4430563	3445	19	G	T	T	47	47	CHAF1A	T	2	2
SEMA6B	10501	broad.mit.edu	37	19	4552448	4552448	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4552448G>T	uc010duc.1	-	9	1013	c.975C>A	c.(973-975)TCC>TCA	p.S325S	SEMA6B_uc010dud.2_Silent_p.S325S|SEMA6B_uc010xih.1_Silent_p.S325S	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	semaphorin 6B precursor	325	Extracellular (Potential).|Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			skin(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Silent	SNP	4552448	4552448	14526	19	G	T	T	47	47	SEMA6B	T	2	2
MLLT1	4298	broad.mit.edu	37	19	6222149	6222149	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6222149C>A	uc002mek.2	-	6	1257	c.1093G>T	c.(1093-1095)GCC>TCC	p.A365S		NM_005934	NP_005925	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	365					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			skin(1)	1								T	MLL	AL								---	---	---	---	capture		Missense_Mutation	SNP	6222149	6222149	10015	19	C	A	A	26	26	MLLT1	A	2	2
EMR1	2015	broad.mit.edu	37	19	6906479	6906479	+	Missense_Mutation	SNP	G	T	T	rs151096072		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6906479G>T	uc002mfw.2	+	9	1023	c.985G>T	c.(985-987)GAT>TAT	p.D329Y	EMR1_uc010dvc.2_Missense_Mutation_p.D329Y|EMR1_uc010dvb.2_Missense_Mutation_p.D277Y|EMR1_uc010xji.1_Missense_Mutation_p.D188Y|EMR1_uc010xjj.1_Missense_Mutation_p.D152Y	NM_001974	NP_001965	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone	329	Ser/Thr-rich.|Extracellular (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(3)|lung(1)|skin(1)	5	all_hematologic(4;0.166)																	---	---	---	---	capture		Missense_Mutation	SNP	6906479	6906479	5297	19	G	T	T	37	37	EMR1	T	1	1
ELAVL1	1994	broad.mit.edu	37	19	8045966	8045966	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8045966C>A	uc002mjb.2	-	3	443	c.276_splice	c.e3+1	p.K92_splice		NM_001419	NP_001410			ELAV-like 1						3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding				0																		---	---	---	---	capture		Splice_Site	SNP	8045966	8045966	5240	19	C	A	A	18	18	ELAVL1	A	5	2
FBN3	84467	broad.mit.edu	37	19	8156451	8156451	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8156451G>A	uc002mjf.2	-	47	5950	c.5929C>T	c.(5929-5931)CCC>TCC	p.P1977S	FBN3_uc002mje.2_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1977	EGF-like 32; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---	capture		Missense_Mutation	SNP	8156451	8156451	5940	19	G	A	A	42	42	FBN3	A	2	2
FBN3	84467	broad.mit.edu	37	19	8161784	8161784	+	Silent	SNP	C	G	G	rs80293030	byFrequency;by1000genomes	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8161784C>G	uc002mjf.2	-	42	5415	c.5394G>C	c.(5392-5394)TCG>TCC	p.S1798S		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	1798	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11																		---	---	---	---	capture		Silent	SNP	8161784	8161784	5940	19	C	G	G	27	27	FBN3	G	3	3
MUC16	94025	broad.mit.edu	37	19	9061578	9061578	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9061578G>T	uc002mkp.2	-	3	26072	c.25868C>A	c.(25867-25869)TCA>TAA	p.S8623*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	8625	Ser-rich.|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		Nonsense_Mutation	SNP	9061578	9061578	10367	19	G	T	T	45	45	MUC16	T	5	2
MUC16	94025	broad.mit.edu	37	19	9089069	9089069	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9089069G>C	uc002mkp.2	-	1	2950	c.2746C>G	c.(2746-2748)CTA>GTA	p.L916V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	916	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	9089069	9089069	10367	19	G	C	C	35	35	MUC16	C	3	3
ZNF846	162993	broad.mit.edu	37	19	9874015	9874015	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9874015G>T	uc002mmb.1	-	3	616	c.85C>A	c.(85-87)CAG>AAG	p.Q29K	ZNF846_uc010xky.1_RNA|ZNF846_uc010xkz.1_RNA|ZNF846_uc010dww.2_Intron|ZNF846_uc002mmc.1_5'UTR	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	zinc finger protein 846	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	9874015	9874015	18794	19	G	T	T	47	47	ZNF846	T	2	2
ZNF823	55552	broad.mit.edu	37	19	11833187	11833187	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11833187G>T	uc002msm.2	-	4	1288	c.1162C>A	c.(1162-1164)CAG>AAG	p.Q388K	ZNF823_uc010xmd.1_Missense_Mutation_p.Q206K|ZNF823_uc010dyi.1_Missense_Mutation_p.Q344K	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	ZFP-36 for a zinc finger protein	388	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2															HNSCC(68;0.2)			---	---	---	---	capture		Missense_Mutation	SNP	11833187	11833187	18777	19	G	T	T	47	47	ZNF823	T	2	2
ZNF443	10224	broad.mit.edu	37	19	12541030	12541030	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12541030C>A	uc002mtu.2	-	4	2154	c.1956G>T	c.(1954-1956)AAG>AAT	p.K652N		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	652	C2H2-type 19.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	12541030	12541030	18509	19	C	A	A	24	24	ZNF443	A	2	2
ZNF564	163050	broad.mit.edu	37	19	12637494	12637494	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12637494G>T	uc002mty.2	-	4	1638	c.1428C>A	c.(1426-1428)CCC>CCA	p.P476P	ZNF709_uc002mtx.3_Intron	NM_144976	NP_659413	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	12637494	12637494	18590	19	G	T	T	35	35	ZNF564	T	2	2
TNPO2	30000	broad.mit.edu	37	19	12830132	12830132	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12830132G>C	uc002muo.2	-	3	303	c.118C>G	c.(118-120)CAG>GAG	p.Q40E	TNPO2_uc002mup.2_Missense_Mutation_p.Q132E|TNPO2_uc002muq.2_Missense_Mutation_p.Q40E|TNPO2_uc002mur.2_Missense_Mutation_p.Q40E	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	40	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	12830132	12830132	16877	19	G	C	C	45	45	TNPO2	C	3	3
CACNA1A	773	broad.mit.edu	37	19	13397689	13397689	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13397689G>C	uc010dze.2	-	20	3420	c.3184C>G	c.(3184-3186)CTG>GTG	p.L1062V	CACNA1A_uc010dzc.2_Missense_Mutation_p.L587V|CACNA1A_uc002mwy.3_Missense_Mutation_p.L1061V|CACNA1A_uc010xne.1_Missense_Mutation_p.L590V	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1062	Cytoplasmic (Potential).				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---	capture		Missense_Mutation	SNP	13397689	13397689	2654	19	G	C	C	35	35	CACNA1A	C	3	3
NOTCH3	4854	broad.mit.edu	37	19	15302616	15302616	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15302616C>A	uc002nan.2	-	5	818	c.742G>T	c.(742-744)GGG>TGG	p.G248W	NOTCH3_uc002nao.1_Missense_Mutation_p.G248W	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Notch homolog 3 precursor	248	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).		Missing (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---	capture		Missense_Mutation	SNP	15302616	15302616	10953	19	C	A	A	21	21	NOTCH3	A	2	2
WIZ	58525	broad.mit.edu	37	19	15535691	15535691	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15535691G>T	uc002nbc.2	-	6	2307	c.2284C>A	c.(2284-2286)CGG>AGG	p.R762R	WIZ_uc002nba.3_Silent_p.R629R|WIZ_uc002nbb.3_Silent_p.R588R	NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	1445						nucleus	zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	15535691	15535691	17949	19	G	T	T	39	39	WIZ	T	1	1
WIZ	58525	broad.mit.edu	37	19	15547688	15547688	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15547688C>A	uc002nbb.3	-	3	672	c.458G>T	c.(457-459)CGG>CTG	p.R153L		NM_021241	NP_067064	O95785	WIZ_HUMAN	widely-interspaced zinc finger motifs	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment						nucleus	zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	15547688	15547688	17949	19	C	A	A	23	23	WIZ	A	1	1
EPS15L1	58513	broad.mit.edu	37	19	16506271	16506271	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16506271G>C	uc002ndz.1	-	17	1805	c.1799C>G	c.(1798-1800)CCT>CGT	p.P600R	EPS15L1_uc002ndx.2_Missense_Mutation_p.P600R|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.P490R|EPS15L1_uc010xpf.1_Missense_Mutation_p.P503R|EPS15L1_uc002nea.1_Missense_Mutation_p.P600R|EPS15L1_uc010eah.1_Missense_Mutation_p.P602R	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway	600					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	16506271	16506271	5386	19	G	C	C	35	35	EPS15L1	C	3	3
UNC13A	23025	broad.mit.edu	37	19	17768932	17768932	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17768932G>T	uc002nhd.2	-	10	970	c.970C>A	c.(970-972)CGG>AGG	p.R324R		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	unc-13 homolog A	236					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	17768932	17768932	17542	19	G	T	T	39	39	UNC13A	T	1	1
JAK3	3718	broad.mit.edu	37	19	17949144	17949144	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17949144C>A	uc002nhn.3	-	11	1597	c.1497G>T	c.(1495-1497)TTG>TTT	p.L499F	JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.L499F|JAK3_uc010xpx.1_3'UTR	NM_000215	NP_000206	P52333	JAK3_HUMAN	Janus kinase 3	499					B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	56							2	Mis		acute megakaryocytic leukemia|								---	---	---	---	capture		Missense_Mutation	SNP	17949144	17949144	8243	19	C	A	A	21	21	JAK3	A	2	2
COMP	1311	broad.mit.edu	37	19	18897430	18897430	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18897430C>A	uc002nke.2	-	11	1202	c.1166G>T	c.(1165-1167)AGG>ATG	p.R389M	COMP_uc002nkd.2_Missense_Mutation_p.R356M|COMP_uc010xqj.1_Missense_Mutation_p.R336M	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	389	TSP type-3 4.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	18897430	18897430	3862	19	C	A	A	24	24	COMP	A	2	2
ZNF486	90649	broad.mit.edu	37	19	20308008	20308008	+	Silent	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20308008T>C	uc002nou.2	+	4	546	c.489T>C	c.(487-489)TTT>TTC	p.F163F		NM_052852	NP_443084	Q96H40	ZN486_HUMAN	zinc finger protein 486	163	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	20308008	20308008	18533	19	T	C	C	62	62	ZNF486	C	4	4
ZNF208	7757	broad.mit.edu	37	19	22154698	22154698	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22154698T>A	uc002nqp.2	-	6	2903	c.2754A>T	c.(2752-2754)GAA>GAT	p.E918D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---	capture		Missense_Mutation	SNP	22154698	22154698	18357	19	T	A	A	60	60	ZNF208	A	4	4
ZNF99	7652	broad.mit.edu	37	19	22939259	22939259	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22939259G>C	uc010xrh.1	-	7	2912	c.2912C>G	c.(2911-2913)CCC>CGC	p.P971R		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---	capture		Missense_Mutation	SNP	22939259	22939259	18808	19	G	C	C	43	43	ZNF99	C	3	3
ZNF461	92283	broad.mit.edu	37	19	37130813	37130813	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37130813C>A	uc002oem.2	-	6	662	c.434G>T	c.(433-435)TGG>TTG	p.W145L	ZNF461_uc002oen.2_Missense_Mutation_p.W114L|ZNF461_uc010xtj.1_Missense_Mutation_p.W122L	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	gonadotropin inducible transcription repressor	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)															---	---	---	---	capture		Missense_Mutation	SNP	37130813	37130813	18518	19	C	A	A	21	21	ZNF461	A	2	2
ZNF570	148268	broad.mit.edu	37	19	37975221	37975221	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37975221C>A	uc002ogk.1	+	5	1226	c.697C>A	c.(697-699)CTT>ATT	p.L233I	ZNF570_uc010efl.1_Missense_Mutation_p.L289I|ZNF570_uc010xtr.1_Missense_Mutation_p.L30I	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	233	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	37975221	37975221	18597	19	C	A	A	24	24	ZNF570	A	2	2
ZNF573	126231	broad.mit.edu	37	19	38229461	38229461	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38229461C>A	uc002ohe.2	-	4	1952	c.1930G>T	c.(1930-1932)GGG>TGG	p.G644W	ZNF573_uc010efs.2_Missense_Mutation_p.G557W|ZNF573_uc002ohd.2_Missense_Mutation_p.G642W|ZNF573_uc002ohf.2_Missense_Mutation_p.G586W|ZNF573_uc002ohg.2_Missense_Mutation_p.G556W	NM_152360	NP_689573	Q86YE8	ZN573_HUMAN	zinc finger protein 573	624	C2H2-type 19.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)															---	---	---	---	capture		Missense_Mutation	SNP	38229461	38229461	18600	19	C	A	A	21	21	ZNF573	A	2	2
ZNF114	163071	broad.mit.edu	37	19	48789340	48789340	+	Silent	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48789340T>A	uc002pil.1	+	6	956	c.459T>A	c.(457-459)CGT>CGA	p.R153R	ZNF114_uc010elv.1_Silent_p.R153R|ZNF114_uc002pim.1_Silent_p.R153R|ZNF114_uc002pin.2_Silent_p.R119R	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	zinc finger protein 114	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)														---	---	---	---	capture		Silent	SNP	48789340	48789340	18307	19	T	A	A	59	59	ZNF114	A	4	4
GPR32	2854	broad.mit.edu	37	19	51274370	51274370	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51274370C>T	uc010ycf.1	+	1	513	c.513C>T	c.(511-513)GCC>GCT	p.A171A		NM_001506	NP_001497	O75388	GPR32_HUMAN	G protein-coupled receptor 32	171	Helical; Name=4; (Potential).					integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)														---	---	---	---	capture		Silent	SNP	51274370	51274370	6963	19	C	T	T	24	24	GPR32	T	2	2
KLK6	5653	broad.mit.edu	37	19	51470440	51470440	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51470440G>C	uc002pui.2	-	4	442	c.182C>G	c.(181-183)GCC>GGC	p.A61G	KLK6_uc010eoj.2_Missense_Mutation_p.A61G|KLK6_uc002puh.2_Missense_Mutation_p.A70G|KLK6_uc002puj.2_5'UTR|KLK6_uc010ycn.1_Intron|KLK6_uc002pul.2_Missense_Mutation_p.A61G|KLK6_uc002pum.2_Intron	NM_001012964	NP_001012982	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6 isoform A	61	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)														---	---	---	---	capture		Missense_Mutation	SNP	51470440	51470440	8722	19	G	C	C	42	42	KLK6	C	3	3
ZNF813	126017	broad.mit.edu	37	19	53994668	53994668	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53994668G>A	uc002qbu.2	+	4	1310	c.1182G>A	c.(1180-1182)CAG>CAA	p.Q394Q	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	394	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)														---	---	---	---	capture		Silent	SNP	53994668	53994668	18773	19	G	A	A	35	35	ZNF813	A	2	2
ZNF667	63934	broad.mit.edu	37	19	56952833	56952833	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56952833T>A	uc002qnd.2	-	5	1693	c.1531A>T	c.(1531-1533)AGT>TGT	p.S511C	ZNF667_uc010etl.2_Missense_Mutation_p.S293C|ZNF667_uc002qne.2_Missense_Mutation_p.S511C|ZNF667_uc010etm.2_Missense_Mutation_p.S454C	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	511	C2H2-type 12.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)														---	---	---	---	capture		Missense_Mutation	SNP	56952833	56952833	18669	19	T	A	A	54	54	ZNF667	A	4	4
ZSCAN4	201516	broad.mit.edu	37	19	58187556	58187556	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58187556G>T	uc002qpu.2	+	3	740	c.43G>T	c.(43-45)GAG>TAG	p.E15*		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	15					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Nonsense_Mutation	SNP	58187556	58187556	18841	19	G	T	T	37	37	ZSCAN4	T	5	1
ASAP2	8853	broad.mit.edu	37	2	9475236	9475236	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9475236G>T	uc002qzh.2	+	9	1117	c.777G>T	c.(775-777)CAG>CAT	p.Q259H	ASAP2_uc002qzi.2_Missense_Mutation_p.Q259H	NM_003887	NP_003878	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	259	Potential.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	9475236	9475236	1029	2	G	T	T	35	35	ASAP2	T	2	2
DDX1	1653	broad.mit.edu	37	2	15770898	15770898	+	Splice_Site	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15770898A>T	uc002rce.2	+	26	2381	c.2093_splice	c.e26-2	p.G698_splice		NM_004939	NP_004930			DEAD (Asp-Glu-Ala-Asp) box polypeptide 1						DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent	cleavage body|stress granule|tRNA-splicing ligase complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity			central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)														---	---	---	---	capture		Splice_Site	SNP	15770898	15770898	4512	2	A	T	T	7	7	DDX1	T	5	4
APOB	338	broad.mit.edu	37	2	21232877	21232877	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21232877T>A	uc002red.2	-	26	6991	c.6863A>T	c.(6862-6864)CAC>CTC	p.H2288L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2288					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---	capture		Missense_Mutation	SNP	21232877	21232877	796	2	T	A	A	59	59	APOB	A	4	4
APOB	338	broad.mit.edu	37	2	21234610	21234610	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21234610C>A	uc002red.2	-	26	5258	c.5130G>T	c.(5128-5130)CTG>CTT	p.L1710L		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	1710					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---	capture		Silent	SNP	21234610	21234610	796	2	C	A	A	21	21	APOB	A	2	2
NCOA1	8648	broad.mit.edu	37	2	24930637	24930637	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24930637G>C	uc002rfk.2	+	11	2556	c.2298G>C	c.(2296-2298)CTG>CTC	p.L766L	NCOA1_uc010eye.2_Silent_p.L766L|NCOA1_uc002rfi.2_Silent_p.L615L|NCOA1_uc002rfj.2_Silent_p.L766L|NCOA1_uc002rfl.2_Silent_p.L766L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1 isoform 1	766									PAX3/NCOA1(8)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							T	PAX3	alveolar rhadomyosarcoma								---	---	---	---	capture		Silent	SNP	24930637	24930637	10627	2	G	C	C	45	45	NCOA1	C	3	3
DNMT3A	1788	broad.mit.edu	37	2	25468908	25468908	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25468908C>G	uc002rgc.2	-	12	1712	c.1455G>C	c.(1453-1455)CAG>CAC	p.Q485H	DNMT3A_uc002rgd.2_Missense_Mutation_p.Q485H|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Q296H	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	485	ADD.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Mis|F|N|S		AML								---	---	---	---	capture		Missense_Mutation	SNP	25468908	25468908	4859	2	C	G	G	32	32	DNMT3A	G	3	3
SLC4A1AP	22950	broad.mit.edu	37	2	27908107	27908107	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27908107C>A	uc002rlk.3	+	10	2361	c.2079C>A	c.(2077-2079)CCC>CCA	p.P693P		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger),	693	Glu-rich.					cytoplasm|nucleus	double-stranded RNA binding|protein binding				0	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Silent	SNP	27908107	27908107	15150	2	C	A	A	21	21	SLC4A1AP	A	2	2
PLB1	151056	broad.mit.edu	37	2	28843173	28843173	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:28843173C>A	uc002rmb.1	+	47	3357	c.3357C>A	c.(3355-3357)CCC>CCA	p.P1119P	PLB1_uc010ezj.1_Silent_p.P1108P|PLB1_uc002rme.1_Silent_p.P84P|PLB1_uc002rmf.1_RNA	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	1119	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Silent	SNP	28843173	28843173	12450	2	C	A	A	21	21	PLB1	A	2	2
GALNT14	79623	broad.mit.edu	37	2	31168726	31168726	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31168726C>A	uc002rnr.2	-	7	1284	c.665G>T	c.(664-666)CGG>CTG	p.R222L	GALNT14_uc002rnq.2_Missense_Mutation_p.R202L|GALNT14_uc002rns.2_Missense_Mutation_p.R227L|GALNT14_uc010ymr.1_Missense_Mutation_p.R187L|GALNT14_uc010ezo.1_Missense_Mutation_p.R189L|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN	N-acetylgalactosaminyltransferase 14	222	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	31168726	31168726	6476	2	C	A	A	23	23	GALNT14	A	1	1
MEMO1	51072	broad.mit.edu	37	2	32145975	32145975	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32145975T>A	uc002rnx.2	-	4	599	c.217A>T	c.(217-219)AGA>TGA	p.R73*	MEMO1_uc010ymu.1_Nonsense_Mutation_p.R50*|MEMO1_uc010ezq.2_Nonsense_Mutation_p.R73*|MEMO1_uc002rny.2_RNA|MEMO1_uc002rnz.2_RNA|MEMO1_uc010ymv.1_RNA	NM_015955	NP_057039	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1 isoform 1	73					regulation of microtubule-based process	cytosol|nucleus				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Nonsense_Mutation	SNP	32145975	32145975	9860	2	T	A	A	54	54	MEMO1	A	5	4
STRN	6801	broad.mit.edu	37	2	37105108	37105108	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37105108G>T	uc002rpn.2	-	10	1258	c.1249C>A	c.(1249-1251)CTT>ATT	p.L417I	STRN_uc010ezx.2_Missense_Mutation_p.L380I	NM_003162	NP_003153	O43815	STRN_HUMAN	striatin, calmodulin binding protein	417					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)																---	---	---	---	capture		Missense_Mutation	SNP	37105108	37105108	15849	2	G	T	T	35	35	STRN	T	2	2
MAP4K3	8491	broad.mit.edu	37	2	39509664	39509664	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39509664G>T	uc002rro.2	-	22	1710	c.1619C>A	c.(1618-1620)CCT>CAT	p.P540H	MAP4K3_uc002rrp.2_Missense_Mutation_p.P519H|MAP4K3_uc010yns.1_Missense_Mutation_p.P93H	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase	540					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(3)|lung(3)|stomach(1)|pancreas(1)	8		all_hematologic(82;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	39509664	39509664	9644	2	G	T	T	35	35	MAP4K3	T	2	2
MSH6	2956	broad.mit.edu	37	2	48027425	48027425	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48027425C>A	uc002rwd.3	+	4	2455	c.2303C>A	c.(2302-2304)CCT>CAT	p.P768H	MSH6_uc002rwc.2_Missense_Mutation_p.P768H|MSH6_uc010fbj.2_Missense_Mutation_p.P466H|MSH6_uc010yoi.1_Missense_Mutation_p.P638H|MSH6_uc010yoj.1_Missense_Mutation_p.P466H	NM_000179	NP_000170	P52701	MSH6_HUMAN	mutS homolog 6	768					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding			large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1)	168		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					Mis|N|F|S		colorectal	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	48027425	48027425	10267	2	C	A	A	24	24	MSH6	A	2	2
FBXO11	80204	broad.mit.edu	37	2	48040932	48040932	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48040932G>A	uc010fbl.2	-	17	1943	c.1829C>T	c.(1828-1830)TCT>TTT	p.S610F	FBXO11_uc002rwe.2_Missense_Mutation_p.S610F|FBXO11_uc002rwf.2_Missense_Mutation_p.S610F|FBXO11_uc010fbk.2_Missense_Mutation_p.S118F	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	F-box only protein 11 isoform 1	694	PbH1 14.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)	2		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)															---	---	---	---	capture		Missense_Mutation	SNP	48040932	48040932	5964	2	G	A	A	33	33	FBXO11	A	2	2
FSHR	2492	broad.mit.edu	37	2	49191003	49191003	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49191003C>T	uc002rww.2	-	10	1031	c.957G>A	c.(955-957)GAG>GAA	p.E319E	FSHR_uc002rwx.2_Silent_p.E257E|FSHR_uc010fbn.2_Silent_p.E293E	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	319	Extracellular (Potential).				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---	capture		Silent	SNP	49191003	49191003	6324	2	C	T	T	20	20	FSHR	T	2	2
NRXN1	9378	broad.mit.edu	37	2	50280432	50280432	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:50280432G>T	uc010fbp.2	-	4	1717	c.910C>A	c.(910-912)CCG>ACG	p.P304T	NRXN1_uc002rxb.3_Missense_Mutation_p.P1041T|NRXN1_uc010fbq.2_Missense_Mutation_p.P1409T|NRXN1_uc002rxe.3_Missense_Mutation_p.P1339T	NM_138735	NP_620072	P58400	NRX1B_HUMAN	neurexin 1 isoform beta precursor	304	Extracellular (Potential).				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding			ovary(2)	2		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)															---	---	---	---	capture		Missense_Mutation	SNP	50280432	50280432	11070	2	G	T	T	43	43	NRXN1	T	2	2
CHAC2	494143	broad.mit.edu	37	2	54001477	54001477	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54001477C>A	uc002rxk.1	+	3	465	c.370C>A	c.(370-372)CTG>ATG	p.L124M	ASB3_uc002rxg.1_Intron|ASB3_uc002rxh.1_Intron|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	ChaC, cation transport regulator-like 2	124											0			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	54001477	54001477	3442	2	C	A	A	32	32	CHAC2	A	2	2
SPTBN1	6711	broad.mit.edu	37	2	54853312	54853312	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54853312G>T	uc002rxu.2	+	12	1834	c.1585G>T	c.(1585-1587)GGG>TGG	p.G529W	SPTBN1_uc002rxv.1_Missense_Mutation_p.G529W|SPTBN1_uc002rxx.2_Missense_Mutation_p.G516W	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1 isoform 1	529	Spectrin 3.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)															---	---	---	---	capture		Missense_Mutation	SNP	54853312	54853312	15633	2	G	T	T	43	43	SPTBN1	T	2	2
C2orf63	130162	broad.mit.edu	37	2	55449476	55449476	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55449476C>A	uc002ryi.2	-	3	418	c.72G>T	c.(70-72)TTG>TTT	p.L24F	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Intron	NM_152385	NP_689598	Q8NHS4	CB063_HUMAN	hypothetical protein LOC130162 isoform 1	24							binding			ovary(2)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)															---	---	---	---	capture		Missense_Mutation	SNP	55449476	55449476	2270	2	C	A	A	21	21	C2orf63	A	2	2
PUS10	150962	broad.mit.edu	37	2	61194676	61194676	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61194676G>T	uc010fci.2	-	6	636	c.576C>A	c.(574-576)CCC>CCA	p.P192P	PUS10_uc002sao.2_Silent_p.P192P|PUS10_uc010ypk.1_5'UTR	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	192					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			ovary(2)|large_intestine(1)|kidney(1)	4			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)															---	---	---	---	capture		Silent	SNP	61194676	61194676	13289	2	G	T	T	43	43	PUS10	T	2	2
USP34	9736	broad.mit.edu	37	2	61475683	61475683	+	Silent	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61475683T>A	uc002sbe.2	-	49	6379	c.6357A>T	c.(6355-6357)ACA>ACT	p.T2119T	USP34_uc002sbf.2_Silent_p.T269T	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2119					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---	capture		Silent	SNP	61475683	61475683	17629	2	T	A	A	55	55	USP34	A	4	4
ACTR2	10097	broad.mit.edu	37	2	65495826	65495826	+	Missense_Mutation	SNP	G	T	T	rs17851187		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65495826G>T	uc002sdq.2	+	9	1358	c.1143G>T	c.(1141-1143)AAG>AAT	p.K381N	ACTR2_uc002sdp.2_Missense_Mutation_p.K386N|ACTR2_uc010yqg.1_Missense_Mutation_p.K329N	NM_005722	NP_005713	P61160	ARP2_HUMAN	actin-related protein 2 isoform b	381					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	65495826	65495826	212	2	G	T	T	35	35	ACTR2	T	2	2
PPP3R1	5534	broad.mit.edu	37	2	68415796	68415796	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:68415796C>A	uc002sei.1	-	3	462	c.70G>T	c.(70-72)GGA>TGA	p.G24*		NM_000945	NP_000936	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B,	24	EF-hand 1.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding				0					Pimecrolimus(DB00337)													---	---	---	---	capture		Nonsense_Mutation	SNP	68415796	68415796	12836	2	C	A	A	24	24	PPP3R1	A	5	2
GKN2	200504	broad.mit.edu	37	2	69173541	69173541	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69173541G>T	uc002sfa.2	-	5	476	c.367C>A	c.(367-369)CTG>ATG	p.L123M	GKN2_uc002sfb.3_Missense_Mutation_p.L123M	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	trefoil factor interactions(z) 1 precursor	123	BRICHOS.					extracellular region					0																		---	---	---	---	capture		Missense_Mutation	SNP	69173541	69173541	6693	2	G	T	T	33	33	GKN2	T	2	2
DYSF	8291	broad.mit.edu	37	2	71709007	71709007	+	Splice_Site	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71709007A>T	uc002sie.2	+	3	521	c.145_splice	c.e3-2	p.G49_splice	DYSF_uc010feg.2_Splice_Site_p.G49_splice|DYSF_uc010feh.2_Splice_Site_p.G49_splice|DYSF_uc002sig.3_Splice_Site_p.G49_splice|DYSF_uc010yqx.1_Splice_Site|DYSF_uc010fee.2_Splice_Site_p.G49_splice|DYSF_uc010fef.2_Splice_Site_p.G49_splice|DYSF_uc010fei.2_Splice_Site_p.G49_splice|DYSF_uc010fek.2_Splice_Site_p.G50_splice|DYSF_uc010fej.2_Splice_Site_p.G50_splice|DYSF_uc010fel.2_Splice_Site_p.G50_splice|DYSF_uc010feo.2_Splice_Site_p.G50_splice|DYSF_uc010fem.2_Splice_Site_p.G50_splice|DYSF_uc010fen.2_Splice_Site_p.G50_splice|DYSF_uc002sif.2_Splice_Site_p.G50_splice	NM_003494	NP_003485			dysferlin isoform 8							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---	capture		Splice_Site	SNP	71709007	71709007	5045	2	A	T	T	7	7	DYSF	T	5	4
TET3	200424	broad.mit.edu	37	2	74275351	74275351	+	Silent	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74275351A>T	uc002skb.3	+	1	1902	c.1902A>T	c.(1900-1902)TCA>TCT	p.S634S	TET3_uc010fez.1_Silent_p.S634S	NM_144993	NP_659430	O43151	TET3_HUMAN	tet oncogene family member 3	634							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---	capture		Silent	SNP	74275351	74275351	16298	2	A	T	T	5	5	TET3	T	4	4
SUCLG1	8802	broad.mit.edu	37	2	84652728	84652728	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:84652728C>A	uc002son.2	-	8	1019	c.826_splice	c.e8-1	p.G276_splice		NM_003849	NP_003840			succinate-CoA ligase, GDP-forming alpha subunit						tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity				0					Succinic acid(DB00139)													---	---	---	---	capture		Splice_Site	SNP	84652728	84652728	15884	2	C	A	A	24	24	SUCLG1	A	5	2
KCMF1	56888	broad.mit.edu	37	2	85255147	85255147	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85255147C>A	uc002sox.3	+	2	496	c.152C>A	c.(151-153)CCA>CAA	p.P51Q		NM_020122	NP_064507	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1	51						intracellular	ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	85255147	85255147	8305	2	C	A	A	21	21	KCMF1	A	2	2
TEKT4	150483	broad.mit.edu	37	2	95542369	95542369	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95542369A>G	uc002stw.1	+	6	1256	c.1163A>G	c.(1162-1164)CAG>CGG	p.Q388R	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	388	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	95542369	95542369	16282	2	A	G	G	7	7	TEKT4	G	4	4
RANBP2	5903	broad.mit.edu	37	2	109365585	109365585	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109365585G>T	uc002tem.3	+	9	1399	c.1273G>T	c.(1273-1275)GGT>TGT	p.G425C		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	425					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---	capture		Missense_Mutation	SNP	109365585	109365585	13488	2	G	T	T	47	47	RANBP2	T	2	2
ACOXL	55289	broad.mit.edu	37	2	111556629	111556629	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:111556629G>T	uc002tgr.3	+	7	723	c.499G>T	c.(499-501)GGA>TGA	p.G167*	ACOXL_uc010fkc.2_Nonsense_Mutation_p.G167*|ACOXL_uc010yxk.1_Nonsense_Mutation_p.G167*	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN	acyl-Coenzyme A oxidase-like 2	167					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	111556629	111556629	162	2	G	T	T	39	39	ACOXL	T	5	1
CKAP2L	150468	broad.mit.edu	37	2	113514469	113514469	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113514469C>A	uc002tie.2	-	4	558	c.479G>T	c.(478-480)GGT>GTT	p.G160V	CKAP2L_uc002tif.2_Splice_Site_p.M1_splice|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	160						centrosome					0																		---	---	---	---	capture		Missense_Mutation	SNP	113514469	113514469	3579	2	C	A	A	18	18	CKAP2L	A	2	2
DDX18	8886	broad.mit.edu	37	2	118579815	118579815	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:118579815G>C	uc002tlh.1	+	7	1143	c.1044G>C	c.(1042-1044)AAG>AAC	p.K348N		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	348	Helicase ATP-binding.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|ovary(1)|lung(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	118579815	118579815	4516	2	G	C	C	34	34	DDX18	C	3	3
WDR33	55339	broad.mit.edu	37	2	128467117	128467117	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128467117G>T	uc002tpg.1	-	20	3695	c.3512C>A	c.(3511-3513)CCT>CAT	p.P1171H		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	1171					postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)														---	---	---	---	capture		Missense_Mutation	SNP	128467117	128467117	17860	2	G	T	T	35	35	WDR33	T	2	2
LRP1B	53353	broad.mit.edu	37	2	141359117	141359117	+	Silent	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141359117A>T	uc002tvj.1	-	42	7863	c.6891T>A	c.(6889-6891)ACT>ACA	p.T2297T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2297	Extracellular (Potential).|LDL-receptor class B 24.				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		Silent	SNP	141359117	141359117	9328	2	A	T	T	7	7	LRP1B	T	4	4
KYNU	8942	broad.mit.edu	37	2	143798134	143798134	+	Silent	SNP	G	T	T	rs145299669		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:143798134G>T	uc002tvl.2	+	13	1309	c.1179G>T	c.(1177-1179)CCG>CCT	p.P393P	KYNU_uc010fnm.2_Silent_p.P393P	NM_003937	NP_003928	Q16719	KYNU_HUMAN	kynureninase (L-kynurenine hydrolase) isoform a	393					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			skin(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Silent	SNP	143798134	143798134	8910	2	G	T	T	40	40	KYNU	T	1	1
NEB	4703	broad.mit.edu	37	2	152512796	152512796	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152512796G>C	uc010fnx.2	-	49	6557	c.6366C>G	c.(6364-6366)GTC>GTG	p.V2122V		NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	2122	Nebulin 56.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---	capture		Silent	SNP	152512796	152512796	10701	2	G	C	C	45	45	NEB	C	3	3
TTC21B	79809	broad.mit.edu	37	2	166802149	166802149	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166802149C>A	uc002udk.2	-	4	447	c.314G>T	c.(313-315)GGA>GTA	p.G105V	TTC21B_uc002udl.2_Missense_Mutation_p.G105V|uc002udm.1_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	105						cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	166802149	166802149	17242	2	C	A	A	30	30	TTC21B	A	2	2
LRP2	4036	broad.mit.edu	37	2	170127413	170127413	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170127413C>A	uc002ues.2	-	16	2533	c.2320_splice	c.e16+1	p.G774_splice	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516			low density lipoprotein-related protein 2						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		Splice_Site	SNP	170127413	170127413	9329	2	C	A	A	18	18	LRP2	A	5	2
PDE11A	50940	broad.mit.edu	37	2	178592803	178592803	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178592803C>A	uc002ulq.2	-	11	2204	c.1886G>T	c.(1885-1887)CGG>CTG	p.R629L	PDE11A_uc002ulp.2_Missense_Mutation_p.R185L|PDE11A_uc002ulr.2_Missense_Mutation_p.R379L|PDE11A_uc002uls.1_Missense_Mutation_p.R271L|PDE11A_uc002ult.1_Missense_Mutation_p.R379L|PDE11A_uc002ulu.1_Missense_Mutation_p.R271L	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	629					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				---	---	---	---	capture		Missense_Mutation	SNP	178592803	178592803	12052	2	C	A	A	23	23	PDE11A	A	1	1
RBM45	129831	broad.mit.edu	37	2	178988945	178988945	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178988945C>A	uc002ulv.2	+	8	1252	c.1160C>A	c.(1159-1161)CCT>CAT	p.P387H		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	389					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding				0			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)															---	---	---	---	capture		Missense_Mutation	SNP	178988945	178988945	13601	2	C	A	A	24	24	RBM45	A	2	2
TTN	7273	broad.mit.edu	37	2	179399281	179399281	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179399281G>T	uc010zfg.1	-	307	94581	c.94357C>A	c.(94357-94359)CAA>AAA	p.Q31453K	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q25148K|TTN_uc010zfi.1_Missense_Mutation_p.Q25081K|TTN_uc010zfj.1_Missense_Mutation_p.Q24956K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	32380							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	179399281	179399281	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179446848	179446848	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179446848C>A	uc010zfg.1	-	264	58768	c.58544G>T	c.(58543-58545)GGG>GTG	p.G19515V	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G13210V|TTN_uc010zfi.1_Missense_Mutation_p.G13143V|TTN_uc010zfj.1_Missense_Mutation_p.G13018V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	20442							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	179446848	179446848	17290	2	C	A	A	22	22	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179451941	179451941	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179451941C>A	uc010zfg.1	-	256	56517	c.56293G>T	c.(56293-56295)GGG>TGG	p.G18765W	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G12460W|TTN_uc010zfi.1_Missense_Mutation_p.G12393W|TTN_uc010zfj.1_Missense_Mutation_p.G12268W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	19692							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	179451941	179451941	17290	2	C	A	A	21	21	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179468828	179468828	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179468828A>G	uc010zfg.1	-	231	47106	c.46882T>C	c.(46882-46884)TCT>CCT	p.S15628P	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S9323P|TTN_uc010zfi.1_Missense_Mutation_p.S9256P|TTN_uc010zfj.1_Missense_Mutation_p.S9131P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16555							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	179468828	179468828	17290	2	A	G	G	11	11	TTN	G	4	4
TTN	7273	broad.mit.edu	37	2	179469536	179469536	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179469536C>A	uc010zfg.1	-	230	46800	c.46576G>T	c.(46576-46578)GGC>TGC	p.G15526C	uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G9221C|TTN_uc010zfi.1_Missense_Mutation_p.G9154C|TTN_uc010zfj.1_Missense_Mutation_p.G9029C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16453							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	179469536	179469536	17290	2	C	A	A	21	21	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179471753	179471753	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179471753G>T	uc010zfg.1	-	227	46096	c.45872C>A	c.(45871-45873)CCA>CAA	p.P15291Q	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P8986Q|TTN_uc010zfi.1_Missense_Mutation_p.P8919Q|TTN_uc010zfj.1_Missense_Mutation_p.P8794Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16218							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	179471753	179471753	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179472360	179472360	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179472360C>A	uc010zfg.1	-	226	45575	c.45351G>T	c.(45349-45351)ATG>ATT	p.M15117I	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.M8812I|TTN_uc010zfi.1_Missense_Mutation_p.M8745I|TTN_uc010zfj.1_Missense_Mutation_p.M8620I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16044							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	179472360	179472360	17290	2	C	A	A	21	21	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179476363	179476363	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179476363C>A	uc010zfg.1	-	218	43113	c.42889G>T	c.(42889-42891)GGG>TGG	p.G14297W	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G7992W|TTN_uc010zfi.1_Missense_Mutation_p.G7925W|TTN_uc010zfj.1_Missense_Mutation_p.G7800W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15224							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	179476363	179476363	17290	2	C	A	A	21	21	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179577134	179577134	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179577134G>T	uc010zfg.1	-	92	24007	c.23783C>A	c.(23782-23784)CCA>CAA	p.P7928Q	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P4589Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	8855							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	179577134	179577134	17290	2	G	T	T	47	47	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179605952	179605952	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179605952C>A	uc010zfh.1	-	46	11719	c.11495G>T	c.(11494-11496)AGG>ATG	p.R3832M	TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.R3765M|TTN_uc010zfj.1_Missense_Mutation_p.R3640M|TTN_uc002umz.1_Intron	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	titin isoform novex-2	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179605952	179605952	17290	2	C	A	A	24	24	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179617883	179617883	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179617883C>T	uc010zfg.1	-	45	10552	c.10328G>A	c.(10327-10329)AGG>AAG	p.R3443K	TTN_uc010zfh.1_Missense_Mutation_p.R3589K|TTN_uc010zfi.1_Missense_Mutation_p.R3522K|TTN_uc010zfj.1_Missense_Mutation_p.R3397K|TTN_uc002umz.1_Missense_Mutation_p.R104K|TTN_uc002unb.2_Missense_Mutation_p.R3443K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)															---	---	---	---	capture		Missense_Mutation	SNP	179617883	179617883	17290	2	C	T	T	24	24	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179654793	179654793	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179654793G>A	uc010zfg.1	-	12	2074	c.1850C>T	c.(1849-1851)ACA>ATA	p.T617I	TTN_uc010zfh.1_Missense_Mutation_p.T571I|TTN_uc010zfi.1_Missense_Mutation_p.T571I|TTN_uc010zfj.1_Missense_Mutation_p.T571I|TTN_uc002unb.2_Missense_Mutation_p.T617I|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	617							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	179654793	179654793	17290	2	G	A	A	48	48	TTN	A	2	2
CCDC141	285025	broad.mit.edu	37	2	179742795	179742795	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179742795C>T	uc002unf.1	-	2	127	c.70G>A	c.(70-72)GCC>ACC	p.A24T	CCDC141_uc002ung.2_Missense_Mutation_p.A599T	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	24							protein binding			ovary(7)|pancreas(2)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---	capture		Missense_Mutation	SNP	179742795	179742795	2895	2	C	T	T	28	28	CCDC141	T	2	2
MYO1B	4430	broad.mit.edu	37	2	192227012	192227012	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192227012G>T	uc010fsg.2	+	9	935	c.680G>T	c.(679-681)AGG>ATG	p.R227M	MYO1B_uc002usq.2_Missense_Mutation_p.R227M|MYO1B_uc002usr.2_Missense_Mutation_p.R227M|MYO1B_uc002uss.1_Missense_Mutation_p.R227M	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	myosin IB isoform 1	227	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---	capture		Missense_Mutation	SNP	192227012	192227012	10464	2	G	T	T	35	35	MYO1B	T	2	2
C2orf66	401027	broad.mit.edu	37	2	197672176	197672176	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197672176G>C	uc002utv.2	-	2	1234	c.345C>G	c.(343-345)CTC>CTG	p.L115L		NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN	hypothetical protein LOC401027 precursor	115						extracellular region					0																		---	---	---	---	capture		Silent	SNP	197672176	197672176	2273	2	G	C	C	45	45	C2orf66	C	3	3
SGOL2	151246	broad.mit.edu	37	2	201436176	201436176	+	Silent	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201436176T>C	uc002uvw.2	+	7	1220	c.1107T>C	c.(1105-1107)GCT>GCC	p.A369A	SGOL2_uc010zhd.1_Silent_p.A369A|SGOL2_uc010zhe.1_Silent_p.A369A	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	shugoshin-like 2 isoform 1	369					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			ovary(2)|skin(2)	4																		---	---	---	---	capture		Silent	SNP	201436176	201436176	14708	2	T	C	C	53	53	SGOL2	C	4	4
AOX1	316	broad.mit.edu	37	2	201477333	201477333	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201477333G>T	uc002uvx.2	+	14	1366	c.1265G>T	c.(1264-1266)TGG>TTG	p.W422L	AOX1_uc010zhf.1_5'UTR|AOX1_uc010fsu.2_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	422					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)													---	---	---	---	capture		Missense_Mutation	SNP	201477333	201477333	739	2	G	T	T	47	47	AOX1	T	2	2
CLK1	1195	broad.mit.edu	37	2	201722708	201722708	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201722708G>T	uc002uwe.2	-	6	834	c.653C>A	c.(652-654)CCC>CAC	p.P218H	CLK1_uc002uwd.2_Missense_Mutation_p.P41H|CLK1_uc010zhi.1_Missense_Mutation_p.P260H|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Missense_Mutation_p.P67H|CLK1_uc010fsv.2_RNA	NM_004071	NP_004062	P49759	CLK1_HUMAN	CDC-like kinase 1 isoform 1	218	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			pancreas(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	201722708	201722708	3674	2	G	T	T	43	43	CLK1	T	2	2
FAM126B	285172	broad.mit.edu	37	2	201857011	201857011	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201857011G>T	uc002uws.3	-	10	1012	c.824C>A	c.(823-825)CCA>CAA	p.P275Q	FAM126B_uc002uwu.2_Missense_Mutation_p.P193Q|FAM126B_uc002uwv.2_Missense_Mutation_p.P275Q	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	hypothetical protein LOC285172	275						intracellular				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	201857011	201857011	5627	2	G	T	T	47	47	FAM126B	T	2	2
ALS2CR4	65062	broad.mit.edu	37	2	202494079	202494079	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202494079T>C	uc002uyh.1	-	10	844	c.743A>G	c.(742-744)TAT>TGT	p.Y248C	ALS2CR4_uc002uyg.1_Missense_Mutation_p.Y240C|ALS2CR4_uc010zho.1_Missense_Mutation_p.Y43C|ALS2CR4_uc010zhp.1_RNA	NM_001044385	NP_001037850	Q96Q45	TM237_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	272						integral to membrane	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	202494079	202494079	557	2	T	C	C	49	49	ALS2CR4	C	4	4
MPP4	58538	broad.mit.edu	37	2	202557744	202557744	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202557744G>T	uc002uyk.3	-	3	296	c.88C>A	c.(88-90)CAG>AAG	p.Q30K	MPP4_uc010ftj.2_Missense_Mutation_p.Q30K|MPP4_uc010zhq.1_Missense_Mutation_p.Q30K|MPP4_uc010zhr.1_Missense_Mutation_p.Q30K|MPP4_uc010zhs.1_Missense_Mutation_p.Q30K|MPP4_uc002uyj.3_Missense_Mutation_p.Q30K|MPP4_uc010zht.1_Missense_Mutation_p.Q30K|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q30K|MPP4_uc002uym.1_Missense_Mutation_p.Q43K|MPP4_uc002uyn.2_Missense_Mutation_p.Q30K	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	30	L27 1.					cytoplasm	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	202557744	202557744	10128	2	G	T	T	47	47	MPP4	T	2	2
C2orf80	389073	broad.mit.edu	37	2	209046009	209046009	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209046009C>A	uc002vcr.2	-	5	399	c.227G>T	c.(226-228)AGA>ATA	p.R76I		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	hypothetical protein LOC389073	76										skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	209046009	209046009	2287	2	C	A	A	32	32	C2orf80	A	2	2
PIKFYVE	200576	broad.mit.edu	37	2	209200071	209200071	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209200071C>A	uc002vcz.2	+	25	4342	c.4184C>A	c.(4183-4185)CCC>CAC	p.P1395H	PIKFYVE_uc002vcy.1_Missense_Mutation_p.P1339H	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	1395					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	209200071	209200071	12348	2	C	A	A	22	22	PIKFYVE	A	2	2
PTH2R	5746	broad.mit.edu	37	2	209358352	209358352	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209358352G>T	uc002vdb.2	+	13	1834	c.1621G>T	c.(1621-1623)GGA>TGA	p.G541*	PTH2R_uc010zjb.1_Nonsense_Mutation_p.G552*|PTH2R_uc010fuo.1_Intron	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	541	Cytoplasmic (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)														---	---	---	---	capture		Nonsense_Mutation	SNP	209358352	209358352	13215	2	G	T	T	35	35	PTH2R	T	5	2
MAP2	4133	broad.mit.edu	37	2	210560954	210560954	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210560954C>A	uc002vde.1	+	7	4308	c.4060C>A	c.(4060-4062)CCT>ACT	p.P1354T	MAP2_uc002vdc.1_Missense_Mutation_p.P1354T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P1350T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1354					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---	capture		Missense_Mutation	SNP	210560954	210560954	9618	2	C	A	A	22	22	MAP2	A	2	2
C2orf67	151050	broad.mit.edu	37	2	211019273	211019273	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211019273C>A	uc002vds.2	-	2	242	c.34G>T	c.(34-36)GGT>TGT	p.G12C	C2orf67_uc002vdt.2_Missense_Mutation_p.G12C|C2orf67_uc002vdw.2_Missense_Mutation_p.G12C|C2orf67_uc002vdy.1_Missense_Mutation_p.G12C|C2orf67_uc002vdv.2_Missense_Mutation_p.G12C|C2orf67_uc002vdx.1_Missense_Mutation_p.G12C	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	hypothetical protein LOC151050	12										ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---	capture		Missense_Mutation	SNP	211019273	211019273	2274	2	C	A	A	22	22	C2orf67	A	2	2
ACADL	33	broad.mit.edu	37	2	211081131	211081131	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211081131G>T	uc002vdz.3	-	4	704	c.476C>A	c.(475-477)CCC>CAC	p.P159H		NM_001608	NP_001599	P28330	ACADL_HUMAN	long-chain acyl-CoA dehydrogenase precursor	159					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity				0		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)														---	---	---	---	capture		Missense_Mutation	SNP	211081131	211081131	113	2	G	T	T	43	43	ACADL	T	2	2
WDR69	164781	broad.mit.edu	37	2	228770955	228770955	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228770955G>T	uc002vpn.1	+	9	838	c.759G>T	c.(757-759)AAG>AAT	p.K253N	WDR69_uc010zlw.1_Missense_Mutation_p.K238N|WDR69_uc002vpo.1_RNA	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	WD repeat domain 69	253	WD 4.									breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)														---	---	---	---	capture		Missense_Mutation	SNP	228770955	228770955	17892	2	G	T	T	35	35	WDR69	T	2	2
SPHKAP	80309	broad.mit.edu	37	2	228883619	228883619	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228883619C>A	uc002vpq.2	-	7	1998	c.1951G>T	c.(1951-1953)GCT>TCT	p.A651S	SPHKAP_uc002vpp.2_Missense_Mutation_p.A651S|SPHKAP_uc010zlx.1_Missense_Mutation_p.A651S	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	sphingosine kinase type 1-interacting protein	651						cytoplasm	protein binding			skin(5)|ovary(4)|lung(1)	10		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)														---	---	---	---	capture		Missense_Mutation	SNP	228883619	228883619	15560	2	C	A	A	25	25	SPHKAP	A	2	2
INPP5D	3635	broad.mit.edu	37	2	234094557	234094557	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234094557G>A	uc010zmo.1	+	20	2497	c.2344G>A	c.(2344-2346)GAG>AAG	p.E782K	INPP5D_uc010zmp.1_Missense_Mutation_p.E781K	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	SH2 containing inositol phosphatase isoform a	782					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			ovary(1)|central_nervous_system(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)														---	---	---	---	capture		Missense_Mutation	SNP	234094557	234094557	8057	2	G	A	A	45	45	INPP5D	A	2	2
DGKD	8527	broad.mit.edu	37	2	234296918	234296918	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234296918G>T	uc002vui.1	+	2	184	c.172G>T	c.(172-174)GGG>TGG	p.G58W	DGKD_uc002vuj.1_Missense_Mutation_p.G14W	NM_152879	NP_690618	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa isoform 2	58	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|pancreas(1)|lung(1)|skin(1)	5		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)													---	---	---	---	capture		Missense_Mutation	SNP	234296918	234296918	4646	2	G	T	T	43	43	DGKD	T	2	2
SPP2	6694	broad.mit.edu	37	2	234969103	234969103	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234969103G>T	uc002vvk.1	+	4	509	c.424G>T	c.(424-426)GAG>TAG	p.E142*	SPP2_uc010fyl.1_Nonsense_Mutation_p.E62*	NM_006944	NP_008875	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa precursor	142					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity				0		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)														---	---	---	---	capture		Nonsense_Mutation	SNP	234969103	234969103	15600	2	G	T	T	45	45	SPP2	T	5	2
COL6A3	1293	broad.mit.edu	37	2	238285988	238285988	+	Splice_Site	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238285988C>T	uc002vwl.2	-	7	2783	c.2498_splice	c.e7-1	p.E833_splice	COL6A3_uc002vwo.2_Splice_Site_p.E627_splice|COL6A3_uc010znj.1_Splice_Site_p.E226_splice|COL6A3_uc002vwq.2_Splice_Site_p.E627_splice|COL6A3_uc002vwr.2_Splice_Site_p.E426_splice|COL6A3_uc010znk.1_Intron	NM_004369	NP_004360			alpha 3 type VI collagen isoform 1 precursor						axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)														---	---	---	---	capture		Splice_Site	SNP	238285988	238285988	3839	2	C	T	T	32	32	COL6A3	T	5	2
PRR21	643905	broad.mit.edu	37	2	240982214	240982214	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240982214C>T	uc010zod.1	-	1	186	c.186G>A	c.(184-186)ACG>ACA	p.T62T		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	62	Pro-rich.									ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	240982214	240982214	13040	2	C	T	T	23	23	PRR21	T	1	1
MYEOV2	150678	broad.mit.edu	37	2	241066130	241066130	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241066130G>T	uc002vyu.1	-	5	609	c.609C>A	c.(607-609)ACC>ACA	p.T203T		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	hypothetical protein LOC150678 isoform 1	Error:Variant_position_missing_in_Q8WXC6_after_alignment											0		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)														---	---	---	---	capture		Silent	SNP	241066130	241066130	10421	2	G	T	T	47	47	MYEOV2	T	2	2
TMC2	117532	broad.mit.edu	37	20	2597739	2597739	+	Silent	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2597739A>T	uc002wgf.1	+	16	1977	c.1962A>T	c.(1960-1962)CCA>CCT	p.P654P	TMC2_uc002wgg.1_Silent_p.P638P	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	transmembrane cochlear-expressed protein 2	654	Cytoplasmic (Potential).					integral to membrane				ovary(3)	3																		---	---	---	---	capture		Silent	SNP	2597739	2597739	16515	20	A	T	T	7	7	TMC2	T	4	4
BMP2	650	broad.mit.edu	37	20	6759229	6759229	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:6759229G>T	uc002wmu.1	+	3	1469	c.684G>T	c.(682-684)GTG>GTT	p.V228V		NM_001200	NP_001191	P12643	BMP2_HUMAN	bone morphogenetic protein 2 preproprotein	228					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			ovary(1)|breast(1)	2					Simvastatin(DB00641)													---	---	---	---	capture		Silent	SNP	6759229	6759229	1484	20	G	T	T	47	47	BMP2	T	2	2
DTD1	92675	broad.mit.edu	37	20	18576691	18576691	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18576691G>T	uc002wrf.3	+	3	337	c.176G>T	c.(175-177)AGT>ATT	p.S59I		NM_080820	NP_543010	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	59					D-amino acid catabolic process	cytoplasm	hydrolase activity, acting on ester bonds			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	18576691	18576691	4970	20	G	T	T	36	36	DTD1	T	2	2
C20orf26	26074	broad.mit.edu	37	20	20269413	20269413	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20269413G>A	uc002wru.2	+	23	3033	c.2957G>A	c.(2956-2958)AGA>AAA	p.R986K	C20orf26_uc002wrw.2_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	986										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	20269413	20269413	2186	20	G	A	A	33	33	C20orf26	A	2	2
CSTL1	128817	broad.mit.edu	37	20	23424661	23424661	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23424661C>G	uc002wte.2	+	3	556	c.310C>G	c.(310-312)CAA>GAA	p.Q104E	CSTL1_uc010zsu.1_RNA|CSTL1_uc010zsv.1_RNA	NM_138283	NP_612140	Q9H114	CST1L_HUMAN	cystatin-like 1 precursor	104						extracellular region	cysteine-type endopeptidase inhibitor activity				0	Colorectal(13;0.0993)|Lung NSC(19;0.235)																	---	---	---	---	capture		Missense_Mutation	SNP	23424661	23424661	4128	20	C	G	G	25	25	CSTL1	G	3	3
MYLK2	85366	broad.mit.edu	37	20	30409459	30409459	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30409459C>A	uc002wwq.2	+	4	793	c.691C>A	c.(691-693)CAG>AAG	p.Q231K		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	skeletal myosin light chain kinase	231					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			lung(2)|skin(2)|ovary(1)|central_nervous_system(1)	6			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---	capture		Missense_Mutation	SNP	30409459	30409459	10452	20	C	A	A	21	21	MYLK2	A	2	2
KIAA1755	85449	broad.mit.edu	37	20	36874360	36874360	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36874360G>T	uc002xhy.1	-	2	444	c.172C>A	c.(172-174)CTG>ATG	p.L58M	KIAA1755_uc002xhz.1_Missense_Mutation_p.L58M	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	58										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)																---	---	---	---	capture		Missense_Mutation	SNP	36874360	36874360	8568	20	G	T	T	35	35	KIAA1755	T	2	2
C20orf111	51526	broad.mit.edu	37	20	42826052	42826052	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42826052G>T	uc002xlk.2	-	4	656	c.519C>A	c.(517-519)CCC>CCA	p.P173P		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	173											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---	capture		Silent	SNP	42826052	42826052	2156	20	G	T	T	43	43	C20orf111	T	2	2
SLC13A3	64849	broad.mit.edu	37	20	45188694	45188694	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45188694G>T	uc002xsf.1	-	13	1814	c.1776C>A	c.(1774-1776)CCC>CCA	p.P592P	SLC13A3_uc010ghn.1_Silent_p.P561P|SLC13A3_uc010zxw.1_Silent_p.P542P|SLC13A3_uc002xsg.1_Silent_p.P545P|SLC13A3_uc010gho.1_Silent_p.P510P|SLC13A3_uc002xse.1_Silent_p.P83P|SLC13A3_uc010ghm.1_Silent_p.P179P|SLC13A3_uc010zxv.1_Silent_p.P177P	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	592	Extracellular (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)													---	---	---	---	capture		Silent	SNP	45188694	45188694	14888	20	G	T	T	47	47	SLC13A3	T	2	2
FAM65C	140876	broad.mit.edu	37	20	49219090	49219090	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49219090C>A	uc002xvm.2	-	13	1484	c.1166G>T	c.(1165-1167)CGG>CTG	p.R389L	FAM65C_uc010zyt.1_Missense_Mutation_p.R393L|FAM65C_uc010zyu.1_RNA|FAM65C_uc002xvn.1_Missense_Mutation_p.R389L	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	hypothetical protein LOC140876	389										ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	49219090	49219090	5824	20	C	A	A	23	23	FAM65C	A	1	1
SALL4	57167	broad.mit.edu	37	20	50408097	50408097	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50408097C>A	uc002xwh.3	-	2	1026	c.925G>T	c.(925-927)GGG>TGG	p.G309W	SALL4_uc010gii.2_Missense_Mutation_p.G309W|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	309					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	50408097	50408097	14293	20	C	A	A	24	24	SALL4	A	2	2
CDH26	60437	broad.mit.edu	37	20	58564203	58564203	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58564203C>A	uc002ybe.2	+	9	1568	c.1268C>A	c.(1267-1269)CCA>CAA	p.P423Q	CDH26_uc002ybf.1_Missense_Mutation_p.P3Q|CDH26_uc010zzy.1_RNA	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	cadherin-like 26 isoform a	423	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)															---	---	---	---	capture		Missense_Mutation	SNP	58564203	58564203	3239	20	C	A	A	21	21	CDH26	A	2	2
PRPF6	24148	broad.mit.edu	37	20	62660759	62660759	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62660759G>T	uc002yho.2	+	19	2629	c.2461G>T	c.(2461-2463)GAG>TAG	p.E821*	PRPF6_uc002yhp.2_Nonsense_Mutation_p.E781*	NM_012469	NP_036601	O94906	PRP6_HUMAN	PRP6 pre-mRNA processing factor 6 homolog	821					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			ovary(2)	2	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)																	---	---	---	---	capture		Nonsense_Mutation	SNP	62660759	62660759	13017	20	G	T	T	37	37	PRPF6	T	5	1
TPTE	7179	broad.mit.edu	37	21	10944758	10944758	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10944758T>A	uc002yip.1	-	11	844	c.476A>T	c.(475-477)AAC>ATC	p.N159I	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.N141I|TPTE_uc002yir.1_Missense_Mutation_p.N121I|TPTE_uc010gkv.1_Missense_Mutation_p.N21I	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	159					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	10944758	10944758	16974	21	T	A	A	60	60	TPTE	A	4	4
HUNK	30811	broad.mit.edu	37	21	33371371	33371371	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33371371G>T	uc002yph.2	+	11	2379	c.2019G>T	c.(2017-2019)AGG>AGT	p.R673S		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	673					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	33371371	33371371	7758	21	G	T	T	41	41	HUNK	T	2	2
IFNAR1	3454	broad.mit.edu	37	21	34715845	34715845	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34715845G>T	uc002yrn.2	+	5	683	c.536G>T	c.(535-537)AGG>ATG	p.R179M	IFNAR1_uc011adv.1_Missense_Mutation_p.R110M	NM_000629	NP_000620	P17181	INAR1_HUMAN	interferon-alpha receptor 1 precursor	179	Fibronectin type-III 1.|Extracellular (Potential).				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---	capture		Missense_Mutation	SNP	34715845	34715845	7845	21	G	T	T	35	35	IFNAR1	T	2	2
KCNE2	9992	broad.mit.edu	37	21	35742771	35742771	+	Translation_Start_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35742771G>T	uc002ytt.1	+	2	134	c.-6G>T	c.(-8--4)GAGGG>GATGG			NM_172201	NP_751951			potassium voltage-gated channel, Isk-related						blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0																		---	---	---	---	capture		Translation_Start_Site	SNP	35742771	35742771	8328	21	G	T	T	35	35	KCNE2	T	2	2
MX2	4600	broad.mit.edu	37	21	42771143	42771143	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42771143G>T	uc002yzf.1	+	10	1397	c.1293G>T	c.(1291-1293)CAG>CAT	p.Q431H	MX2_uc002yzg.1_Missense_Mutation_p.Q154H|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	431					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)																---	---	---	---	capture		Missense_Mutation	SNP	42771143	42771143	10392	21	G	T	T	35	35	MX2	T	2	2
KLHL22	84861	broad.mit.edu	37	22	20796611	20796611	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:20796611G>T	uc002zsl.1	-	7	1763	c.1654C>A	c.(1654-1656)CGC>AGC	p.R552S	KLHL22_uc011ahr.1_Missense_Mutation_p.R409S	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	kelch-like	552	Kelch 6.				cell division	Cul3-RING ubiquitin ligase complex				lung(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)															---	---	---	---	capture		Missense_Mutation	SNP	20796611	20796611	8689	22	G	T	T	39	39	KLHL22	T	1	1
TFIP11	24144	broad.mit.edu	37	22	26892077	26892077	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26892077C>A	uc003acr.2	-	11	2185	c.1811G>T	c.(1810-1812)TGG>TTG	p.W604L	TFIP11_uc003acq.2_5'Flank|TFIP11_uc003acs.2_Missense_Mutation_p.W604L|TFIP11_uc003act.2_Missense_Mutation_p.W604L	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	604					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	26892077	26892077	16335	22	C	A	A	21	21	TFIP11	A	2	2
TPST2	8459	broad.mit.edu	37	22	26937263	26937263	+	Missense_Mutation	SNP	C	A	A	rs142901851	byFrequency	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26937263C>A	uc003acv.2	-	2	502	c.334G>T	c.(334-336)GCC>TCC	p.A112S	TPST2_uc003acw.2_Missense_Mutation_p.A112S|TPST2_uc003acx.2_Missense_Mutation_p.A112S|TPST2_uc011akf.1_Missense_Mutation_p.A112S	NM_003595	NP_003586	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	112	Lumenal (Potential).				peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	26937263	26937263	16972	22	C	A	A	26	26	TPST2	A	2	2
NF2	4771	broad.mit.edu	37	22	30035117	30035117	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30035117C>A	uc003age.3	+	3	722	c.279C>A	c.(277-279)ACC>ACA	p.T93T	NF2_uc003afy.3_Silent_p.T93T|NF2_uc003afz.3_Intron|NF2_uc003agf.3_Silent_p.T93T|NF2_uc003agb.3_Silent_p.T16T|NF2_uc003agc.3_Silent_p.T55T|NF2_uc003agd.3_Intron|NF2_uc003agg.3_Silent_p.T93T|NF2_uc003aga.3_Silent_p.T51T|NF2_uc003agh.3_Intron|NF2_uc003agi.3_Intron|NF2_uc003agj.3_Silent_p.T93T|NF2_uc003agk.3_Silent_p.T55T	NM_000268	NP_000259	P35240	MERL_HUMAN	neurofibromin 2 isoform 1	93	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.H84_F100del(1)|p.V86_Q111>E(1)|p.F94fs*27(1)		meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728								D|Mis|N|F|S|O		meningioma|acoustic neuroma|renal 	meningioma|acoustic neuroma			Neurofibromatosis_type_2				---	---	---	---	capture		Silent	SNP	30035117	30035117	10757	22	C	A	A	24	24	NF2	A	2	2
DEPDC5	9681	broad.mit.edu	37	22	32302314	32302314	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32302314G>T	uc003als.2	+	42	4692	c.4550G>T	c.(4549-4551)TGG>TTG	p.W1517L	DEPDC5_uc011als.1_Missense_Mutation_p.W1448L|DEPDC5_uc011alu.1_Missense_Mutation_p.W1548L|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.W1539L|DEPDC5_uc003alu.2_Missense_Mutation_p.W966L|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.W815L|DEPDC5_uc011alx.1_Missense_Mutation_p.W365L|DEPDC5_uc010gwk.2_Silent_p.L552L|DEPDC5_uc011aly.1_Missense_Mutation_p.W365L	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1517					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	32302314	32302314	4621	22	G	T	T	47	47	DEPDC5	T	2	2
C22orf33	339669	broad.mit.edu	37	22	37397983	37397983	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37397983C>T	uc003aqf.2	-	3	530	c.384G>A	c.(382-384)CAG>CAA	p.Q128Q	C22orf33_uc003aqe.2_Silent_p.Q43Q	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	128											0																		---	---	---	---	capture		Silent	SNP	37397983	37397983	2226	22	C	T	T	24	24	C22orf33	T	2	2
NOL12	79159	broad.mit.edu	37	22	38084982	38084982	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38084982G>T	uc003atp.2	+	4	420	c.364G>T	c.(364-366)GGG>TGG	p.G122W	NOL12_uc011anm.1_Missense_Mutation_p.G122W|NOL12_uc003ato.1_RNA|TRIOBP_uc003atq.1_5'UTR	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	122						nucleolus	rRNA binding				0	Melanoma(58;0.0574)																	---	---	---	---	capture		Missense_Mutation	SNP	38084982	38084982	10925	22	G	T	T	39	39	NOL12	T	1	1
SMCR7L	54471	broad.mit.edu	37	22	39908363	39908363	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39908363C>A	uc003axx.2	+	5	947	c.449C>A	c.(448-450)CCT>CAT	p.P150H	SMCR7L_uc003axw.2_Missense_Mutation_p.P150H|SMCR7L_uc010gxz.1_Translation_Start_Site|SMCR7L_uc003axy.2_Translation_Start_Site	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	150						integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)																	---	---	---	---	capture		Missense_Mutation	SNP	39908363	39908363	15289	22	C	A	A	24	24	SMCR7L	A	2	2
TNRC6B	23112	broad.mit.edu	37	22	40661265	40661265	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40661265G>T	uc011aor.1	+	5	1242	c.1031G>T	c.(1030-1032)AGG>ATG	p.R344M	TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Missense_Mutation_p.R344M|TNRC6B_uc003ayo.2_Missense_Mutation_p.R148M	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B isoform 1	344					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	40661265	40661265	16882	22	G	T	T	35	35	TNRC6B	T	2	2
MEI1	150365	broad.mit.edu	37	22	42172170	42172170	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42172170T>G	uc003baz.1	+	21	2634	c.2609T>G	c.(2608-2610)CTG>CGG	p.L870R	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.L256R|MEI1_uc003bbc.1_Missense_Mutation_p.L238R|MEI1_uc010gym.1_Missense_Mutation_p.L238R|MEI1_uc003bbd.1_Missense_Mutation_p.L113R|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	870							binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	42172170	42172170	9854	22	T	G	G	55	55	MEI1	G	4	4
WNT7B	7477	broad.mit.edu	37	22	46327162	46327162	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46327162C>T	uc003bgo.2	-	3	760	c.386G>A	c.(385-387)AGC>AAC	p.S129N	WNT7B_uc010haa.2_Missense_Mutation_p.S133N	NM_058238	NP_478679	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family,	129					activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity			lung(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Missense_Mutation	SNP	46327162	46327162	17969	22	C	T	T	28	28	WNT7B	T	2	2
TUBGCP6	85378	broad.mit.edu	37	22	50678788	50678788	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50678788C>A	uc003bkb.1	-	2	1262	c.750G>T	c.(748-750)CCG>CCT	p.P250P	TUBGCP6_uc010har.1_Silent_p.P250P|TUBGCP6_uc010has.1_RNA|TUBGCP6_uc010hau.1_Silent_p.P250P	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	250					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)														---	---	---	---	capture		Silent	SNP	50678788	50678788	17325	22	C	A	A	31	31	TUBGCP6	A	1	1
MTMR14	64419	broad.mit.edu	37	3	9704037	9704037	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9704037C>A	uc003brz.2	+	3	519	c.395C>A	c.(394-396)CCA>CAA	p.P132Q	MTMR14_uc003bsa.2_Missense_Mutation_p.P132Q|MTMR14_uc003bsb.2_Missense_Mutation_p.P132Q|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	jumpy isoform 2	132						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(99;0.227)																	---	---	---	---	capture		Missense_Mutation	SNP	9704037	9704037	10335	3	C	A	A	21	21	MTMR14	A	2	2
IL17RE	132014	broad.mit.edu	37	3	9956415	9956415	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9956415C>A	uc003btu.2	+	16	1518	c.1401C>A	c.(1399-1401)ACC>ACA	p.T467T	CIDEC_uc003bto.2_Intron|IL17RC_uc010hcr.2_5'Flank|IL17RC_uc011ato.1_5'Flank|IL17RC_uc010hcs.2_5'Flank|IL17RC_uc003btz.2_5'Flank|IL17RC_uc011atp.1_5'Flank|IL17RC_uc003bud.2_5'Flank|IL17RC_uc003bua.2_5'Flank|IL17RC_uc003bub.2_5'Flank|IL17RC_uc010hct.2_5'Flank|IL17RC_uc010hcu.2_5'Flank|IL17RC_uc010hcv.2_5'Flank|IL17RC_uc011atq.1_5'Flank|IL17RC_uc003buc.2_5'Flank|IL17RE_uc003btw.2_Silent_p.T467T|IL17RE_uc003btx.2_Silent_p.T351T|IL17RE_uc010hcq.2_Missense_Mutation_p.P492T|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	467	Helical; (Potential).					cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)														---	---	---	---	capture		Silent	SNP	9956415	9956415	7944	3	C	A	A	22	22	IL17RE	A	2	2
RAF1	5894	broad.mit.edu	37	3	12633208	12633208	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:12633208G>T	uc003bxf.3	-	11	1607	c.1192C>A	c.(1192-1194)CGC>AGC	p.R398S	RAF1_uc011aut.1_Missense_Mutation_p.R183S|RAF1_uc011auu.1_Missense_Mutation_p.R316S	NM_002880	NP_002871	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog	398	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|SRGAP3/RAF1(4)	central_nervous_system(4)|prostate(4)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)|liver(1)|ovary(1)	14					Sorafenib(DB00398)			T	SRGAP3	pilocytic astrocytoma				Noonan_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	12633208	12633208	13462	3	G	T	T	38	38	RAF1	T	1	1
SLC4A7	9497	broad.mit.edu	37	3	27439274	27439274	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27439274G>T	uc003cdv.2	-	18	2648	c.2577C>A	c.(2575-2577)ATC>ATA	p.I859I	SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Silent_p.I740I|SLC4A7_uc011aww.1_Silent_p.I868I|SLC4A7_uc011awx.1_Silent_p.I855I|SLC4A7_uc011awy.1_Silent_p.I851I|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Silent_p.I740I|SLC4A7_uc011axb.1_Silent_p.I855I|SLC4A7_uc010hfl.2_Silent_p.I409I|SLC4A7_uc003cdw.2_Silent_p.I735I	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate	859	Cytoplasmic (Potential).					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	27439274	27439274	15155	3	G	T	T	45	45	SLC4A7	T	2	2
SCN5A	6331	broad.mit.edu	37	3	38655263	38655263	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38655263C>T	uc003cio.2	-	6	868	c.674G>A	c.(673-675)CGG>CAG	p.R225Q	SCN5A_uc003cin.2_Missense_Mutation_p.R225Q|SCN5A_uc003cil.3_Intron|SCN5A_uc010hhi.2_Intron|SCN5A_uc010hhk.2_Intron|SCN5A_uc011ayr.1_Intron|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	225	Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).		R -> W (in PFHB1A).|R -> Q (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)													---	---	---	---	capture		Missense_Mutation	SNP	38655263	38655263	14404	3	C	T	T	23	23	SCN5A	T	1	1
WDR48	57599	broad.mit.edu	37	3	39136189	39136189	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39136189G>C	uc003cit.2	+	19	1999	c.1989G>C	c.(1987-1989)AAG>AAC	p.K663N	WDR48_uc011ayt.1_Missense_Mutation_p.K654N|WDR48_uc011ayu.1_Missense_Mutation_p.K581N|WDR48_uc011ayv.1_Missense_Mutation_p.K388N|WDR48_uc003ciu.2_RNA	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	663					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			ovary(1)|breast(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---	capture		Missense_Mutation	SNP	39136189	39136189	17874	3	G	C	C	33	33	WDR48	C	3	3
NKTR	4820	broad.mit.edu	37	3	42681131	42681131	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42681131G>T	uc003clo.2	+	13	4082	c.3935G>T	c.(3934-3936)AGG>ATG	p.R1312M	NKTR_uc003clm.1_Missense_Mutation_p.R1059M|NKTR_uc003clp.2_Missense_Mutation_p.R1059M|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Missense_Mutation_p.R1202M|NKTR_uc003clr.1_Missense_Mutation_p.R1059M|NKTR_uc003cls.2_Missense_Mutation_p.R1012M	NM_005385	NP_005376	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1312	Arg/Ser tandem repeat-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			ovary(2)|skin(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.24)														---	---	---	---	capture		Missense_Mutation	SNP	42681131	42681131	10849	3	G	T	T	35	35	NKTR	T	2	2
KIF15	56992	broad.mit.edu	37	3	44893441	44893441	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44893441C>A	uc003cnx.3	+	33	4118	c.3969C>A	c.(3967-3969)TCC>TCA	p.S1323S	KIF15_uc010hiq.2_Silent_p.S1226S|KIF15_uc010hir.2_Silent_p.S371S	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	1323	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---	capture		Silent	SNP	44893441	44893441	8588	3	C	A	A	22	22	KIF15	A	2	2
SCAP	22937	broad.mit.edu	37	3	47465535	47465535	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47465535G>T	uc003crh.1	-	9	1293	c.1038C>A	c.(1036-1038)GGC>GGA	p.G346G	SCAP_uc011baz.1_Silent_p.G91G|SCAP_uc003crg.2_5'UTR	NM_012235	NP_036367	Q12770	SCAP_HUMAN	SREBF chaperone protein	346	SSD.|Helical; Name=4; (Potential).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)														---	---	---	---	capture		Silent	SNP	47465535	47465535	14358	3	G	T	T	38	38	SCAP	T	1	1
NCKIPSD	51517	broad.mit.edu	37	3	48717141	48717141	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48717141G>T	uc003cun.2	-	8	1450	c.1356C>A	c.(1354-1356)CAC>CAA	p.H452Q	NCKIPSD_uc003cum.2_Missense_Mutation_p.H445Q	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain isoform	452	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---	capture		Missense_Mutation	SNP	48717141	48717141	10624	3	G	T	T	44	44	NCKIPSD	T	2	2
SEMA3F	6405	broad.mit.edu	37	3	50220346	50220346	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50220346G>T	uc003cyj.2	+	10	1111	c.913G>T	c.(913-915)GGT>TGT	p.G305C	SEMA3F_uc003cyk.2_Missense_Mutation_p.G274C	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	semaphorin 3F precursor	305	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			lung(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)														---	---	---	---	capture		Missense_Mutation	SNP	50220346	50220346	14515	3	G	T	T	39	39	SEMA3F	T	1	1
NISCH	11188	broad.mit.edu	37	3	52525432	52525432	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52525432C>A	uc011beg.1	+	21	3879	c.3807C>A	c.(3805-3807)CTC>CTA	p.L1269L	NISCH_uc003ded.3_Silent_p.L1269L|NISCH_uc003dee.3_Silent_p.L758L|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_Silent_p.L18L	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1269					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)														---	---	---	---	capture		Silent	SNP	52525432	52525432	10833	3	C	A	A	30	30	NISCH	A	2	2
ATXN7	6314	broad.mit.edu	37	3	63973883	63973883	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:63973883A>T	uc003dlw.3	+	9	1797	c.1244A>T	c.(1243-1245)CAT>CTT	p.H415L	ATXN7_uc003dlv.2_Missense_Mutation_p.H415L|ATXN7_uc010hnv.2_Missense_Mutation_p.H415L|ATXN7_uc011bfn.1_Missense_Mutation_p.H270L	NM_000333	NP_000324	O15265	ATX7_HUMAN	ataxin 7 isoform a	415	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding				0		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)														---	---	---	---	capture		Missense_Mutation	SNP	63973883	63973883	1235	3	A	T	T	8	8	ATXN7	T	4	4
GXYLT2	727936	broad.mit.edu	37	3	72971407	72971407	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:72971407C>A	uc003dpg.2	+	3	521	c.521C>A	c.(520-522)CCC>CAC	p.P174H		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	glycosyltransferase 8 domain containing 4	174	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	72971407	72971407	7184	3	C	A	A	22	22	GXYLT2	A	2	2
OR5H2	79310	broad.mit.edu	37	3	98001983	98001983	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98001983C>A	uc003dsj.1	+	1	252	c.252C>A	c.(250-252)CCC>CCA	p.P84P		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H,	84	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	98001983	98001983	11572	3	C	A	A	21	21	OR5H2	A	2	2
OR5K4	403278	broad.mit.edu	37	3	98072818	98072818	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98072818G>T	uc011bgv.1	+	1	121	c.121G>T	c.(121-123)GGG>TGG	p.G41W		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	98072818	98072818	11579	3	G	T	T	43	43	OR5K4	T	2	2
ABI3BP	25890	broad.mit.edu	37	3	100567705	100567705	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100567705T>A	uc003dun.2	-	16	1475	c.1390A>T	c.(1390-1392)ACA>TCA	p.T464S	ABI3BP_uc003duo.2_Missense_Mutation_p.T506S|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	ABI gene family, member 3 (NESH) binding protein	464	Pro-rich.					extracellular space				ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	100567705	100567705	92	3	T	A	A	57	57	ABI3BP	A	4	4
HHLA2	11148	broad.mit.edu	37	3	108076801	108076801	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108076801G>T	uc003dwy.3	+	6	963	c.796G>T	c.(796-798)GGG>TGG	p.G266W	HHLA2_uc011bhl.1_Missense_Mutation_p.G202W|HHLA2_uc010hpu.2_Missense_Mutation_p.G266W|HHLA2_uc003dwz.2_Missense_Mutation_p.G266W	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2 precursor	266	Ig-like V-type 2.					integral to membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	108076801	108076801	7380	3	G	T	T	47	47	HHLA2	T	2	2
DPPA2	151871	broad.mit.edu	37	3	109033356	109033356	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:109033356C>A	uc003dxo.2	-	2	280	c.33_splice	c.e2+1	p.K11_splice		NM_138815	NP_620170			developmental pluripotency associated 2							nucleus	nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---	capture		Splice_Site	SNP	109033356	109033356	4918	3	C	A	A	18	18	DPPA2	A	5	2
GPR156	165829	broad.mit.edu	37	3	119886143	119886143	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119886143C>A	uc011bjf.1	-	9	2181	c.2181G>T	c.(2179-2181)TGG>TGT	p.W727C	GPR156_uc011bjg.1_Missense_Mutation_p.W723C	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	727	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	119886143	119886143	6936	3	C	A	A	26	26	GPR156	A	2	2
ZXDC	79364	broad.mit.edu	37	3	126185161	126185161	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126185161G>A	uc003eiv.2	-	5	1332	c.1278C>T	c.(1276-1278)TGC>TGT	p.C426C	ZXDC_uc010hsh.2_RNA|ZXDC_uc003eix.2_Silent_p.C426C	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C isoform 1	426	C2H2-type 9.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---	capture		Silent	SNP	126185161	126185161	18857	3	G	A	A	38	38	ZXDC	A	1	1
ACAD9	28976	broad.mit.edu	37	3	128627878	128627878	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128627878C>A	uc003ela.3	+	14	1623	c.1421C>A	c.(1420-1422)TCC>TAC	p.S474Y	ACAD9_uc010hsw.1_3'UTR|ACAD9_uc011bks.1_Missense_Mutation_p.S351Y|ACAD9_uc003elb.2_Missense_Mutation_p.S351Y|ACAD9_uc003eld.1_RNA|ACAD9_uc003ele.2_Missense_Mutation_p.S126Y	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	acyl-Coenzyme A dehydrogenase family, member 9	474						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	128627878	128627878	112	3	C	A	A	30	30	ACAD9	A	2	2
EPHB1	2047	broad.mit.edu	37	3	134873037	134873037	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134873037G>T	uc003eqt.2	+	6	1561	c.1341G>T	c.(1339-1341)ATG>ATT	p.M447I	EPHB1_uc003equ.2_Missense_Mutation_p.M8I	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	447	Fibronectin type-III 2.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30																		---	---	---	---	capture		Missense_Mutation	SNP	134873037	134873037	5367	3	G	T	T	45	45	EPHB1	T	2	2
GPR87	53836	broad.mit.edu	37	3	151012966	151012966	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151012966G>C	uc003eyt.2	-	3	429	c.68C>G	c.(67-69)TCA>TGA	p.S23*	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	23	Extracellular (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		Nonsense_Mutation	SNP	151012966	151012966	6991	3	G	C	C	45	45	GPR87	C	5	3
IGSF10	285313	broad.mit.edu	37	3	151164418	151164418	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151164418G>T	uc011bod.1	-	4	3351	c.3351C>A	c.(3349-3351)CCC>CCA	p.P1117P		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	1117					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Silent	SNP	151164418	151164418	7898	3	G	T	T	47	47	IGSF10	T	2	2
IGSF10	285313	broad.mit.edu	37	3	151171289	151171289	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151171289G>T	uc011bod.1	-	3	598	c.598C>A	c.(598-600)CTC>ATC	p.L200I		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	200	LRR 6.				cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---	capture		Missense_Mutation	SNP	151171289	151171289	7898	3	G	T	T	35	35	IGSF10	T	2	2
MFSD1	64747	broad.mit.edu	37	3	158543848	158543848	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158543848C>A	uc003fcl.1	+	14	1363	c.1333C>A	c.(1333-1335)CAG>AAG	p.Q445K	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.Q348K|MFSD1_uc011bow.1_Missense_Mutation_p.Q406K|MFSD1_uc011box.1_Missense_Mutation_p.Q372K	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	445					transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---	capture		Missense_Mutation	SNP	158543848	158543848	9917	3	C	A	A	21	21	MFSD1	A	2	2
B3GALNT1	8706	broad.mit.edu	37	3	160804280	160804280	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160804280G>T	uc003fdv.2	-	5	682	c.263C>A	c.(262-264)CCT>CAT	p.P88H	B3GALNT1_uc003fdw.2_Missense_Mutation_p.P88H|B3GALNT1_uc003fdx.2_Missense_Mutation_p.P88H|B3GALNT1_uc003fdy.2_Missense_Mutation_p.P88H|B3GALNT1_uc003fdz.2_Missense_Mutation_p.P88H|B3GALNT1_uc003fea.2_Missense_Mutation_p.P88H|B3GALNT1_uc011bpa.1_Intron	NM_033169	NP_149359	O75752	B3GL1_HUMAN	UDP-Gal:betaGlcNAc beta	88	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)															---	---	---	---	capture		Missense_Mutation	SNP	160804280	160804280	1266	3	G	T	T	35	35	B3GALNT1	T	2	2
SI	6476	broad.mit.edu	37	3	164727158	164727158	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164727158G>T	uc003fei.2	-	35	4150	c.4088C>A	c.(4087-4089)CCA>CAA	p.P1363Q		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	1363	Sucrase.|Lumenal.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	164727158	164727158	14792	3	G	T	T	47	47	SI	T	2	2
SLITRK3	22865	broad.mit.edu	37	3	164906744	164906744	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906744G>T	uc003fej.3	-	2	2319	c.1875C>A	c.(1873-1875)GCC>GCA	p.A625A	SLITRK3_uc003fek.2_Silent_p.A625A	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	625	Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Silent	SNP	164906744	164906744	15242	3	G	T	T	43	43	SLITRK3	T	2	2
SLITRK3	22865	broad.mit.edu	37	3	164906901	164906901	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164906901A>T	uc003fej.3	-	2	2162	c.1718T>A	c.(1717-1719)TTT>TAT	p.F573Y	SLITRK3_uc003fek.2_Missense_Mutation_p.F573Y	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	573	LRRCT 2.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	164906901	164906901	15242	3	A	T	T	1	1	SLITRK3	T	4	4
SERPINI2	5276	broad.mit.edu	37	3	167185073	167185073	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167185073C>A	uc003fer.1	-	2	306	c.248G>T	c.(247-249)GGG>GTG	p.G83V	SERPINI2_uc003fes.1_Missense_Mutation_p.G93V|SERPINI2_uc003fet.1_Missense_Mutation_p.G83V	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	83					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	167185073	167185073	14607	3	C	A	A	22	22	SERPINI2	A	2	2
SERPINI2	5276	broad.mit.edu	37	3	167189509	167189509	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167189509G>T	uc003fer.1	-	1	172	c.114C>A	c.(112-114)TCC>TCA	p.S38S	SERPINI2_uc003fes.1_Silent_p.S48S|SERPINI2_uc003fet.1_Silent_p.S38S	NM_006217	NP_006208	O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin),	38					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(2)|urinary_tract(1)	3																		---	---	---	---	capture		Silent	SNP	167189509	167189509	14607	3	G	T	T	35	35	SERPINI2	T	2	2
SERPINI1	5274	broad.mit.edu	37	3	167543034	167543034	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167543034G>T	uc003ffa.3	+	9	1355	c.1157_splice	c.e9-1	p.G386_splice	SERPINI1_uc003ffb.3_Splice_Site_p.G386_splice	NM_001122752	NP_001116224			neuroserpin precursor						central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1																		---	---	---	---	capture		Splice_Site	SNP	167543034	167543034	14606	3	G	T	T	35	35	SERPINI1	T	5	2
MECOM	2122	broad.mit.edu	37	3	168810787	168810787	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168810787G>C	uc003ffi.3	-	13	2828	c.2559C>G	c.(2557-2559)AAC>AAG	p.N853K	MECOM_uc010hwk.1_Missense_Mutation_p.N867K|MECOM_uc003ffj.3_Missense_Mutation_p.N918K|MECOM_uc011bpi.1_Missense_Mutation_p.N845K|MECOM_uc003ffn.3_Missense_Mutation_p.N853K|MECOM_uc003ffk.2_Missense_Mutation_p.N844K|MECOM_uc003ffl.2_Missense_Mutation_p.N1004K|MECOM_uc011bpj.1_Missense_Mutation_p.N1041K|MECOM_uc011bpk.1_Missense_Mutation_p.N843K	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	853					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---	capture		Missense_Mutation	SNP	168810787	168810787	9811	3	G	C	C	48	48	MECOM	C	3	3
SLC2A2	6514	broad.mit.edu	37	3	170716901	170716901	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170716901C>A	uc003fhe.1	-	9	1432	c.1123G>T	c.(1123-1125)GGG>TGG	p.G375W	SLC2A2_uc003fhf.1_Missense_Mutation_p.G202W|SLC2A2_uc011bpu.1_Missense_Mutation_p.G248W	NM_000340	NP_000331	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose	375	Helical; Name=9; (Potential).				carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)															---	---	---	---	capture		Missense_Mutation	SNP	170716901	170716901	15041	3	C	A	A	21	21	SLC2A2	A	2	2
ECT2	1894	broad.mit.edu	37	3	172520750	172520750	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172520750C>A	uc003fii.2	+	19	2131	c.1993C>A	c.(1993-1995)CTC>ATC	p.L665I	ECT2_uc010hwv.1_Missense_Mutation_p.L696I|ECT2_uc003fih.2_Missense_Mutation_p.L664I|ECT2_uc003fij.1_Missense_Mutation_p.L665I|ECT2_uc003fik.1_Missense_Mutation_p.L665I|ECT2_uc003fil.1_Missense_Mutation_p.L696I|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	665	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---	capture		Missense_Mutation	SNP	172520750	172520750	5088	3	C	A	A	24	24	ECT2	A	2	2
TBL1XR1	79718	broad.mit.edu	37	3	176743300	176743300	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:176743300C>G	uc003fiw.3	-	16	1791	c.1531G>C	c.(1531-1533)GAC>CAC	p.D511H	TBL1XR1_uc003fix.3_Missense_Mutation_p.D511H|TBL1XR1_uc011bpz.1_Missense_Mutation_p.D183H	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	511	WD 8.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)															---	---	---	---	capture		Missense_Mutation	SNP	176743300	176743300	16166	3	C	G	G	32	32	TBL1XR1	G	3	3
ACTL6A	86	broad.mit.edu	37	3	179287950	179287950	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179287950C>A	uc003fjw.2	+	3	371	c.198C>A	c.(196-198)CCC>CCA	p.P66P	ACTL6A_uc003fjx.2_Silent_p.P24P|ACTL6A_uc003fjy.2_Silent_p.P24P	NM_004301	NP_004292	O96019	ACL6A_HUMAN	actin-like 6A isoform 1	66					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	p.P66S(1)		ovary(1)	1	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---	capture		Silent	SNP	179287950	179287950	199	3	C	A	A	21	21	ACTL6A	A	2	2
TTC14	151613	broad.mit.edu	37	3	180320739	180320739	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180320739G>T	uc003fkk.2	+	2	354	c.222G>T	c.(220-222)CTG>CTT	p.L74L	TTC14_uc003fkl.2_Silent_p.L74L|TTC14_uc003fkm.2_Silent_p.L74L	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14 isoform a	74							RNA binding			ovary(1)	1	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---	capture		Silent	SNP	180320739	180320739	17235	3	G	T	T	46	46	TTC14	T	2	2
CCDC39	339829	broad.mit.edu	37	3	180372659	180372659	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:180372659C>T	uc010hxe.2	-	7	936	c.821G>A	c.(820-822)GGG>GAG	p.G274E	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	274					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)															---	---	---	---	capture		Missense_Mutation	SNP	180372659	180372659	2933	3	C	T	T	22	22	CCDC39	T	2	2
PSMD2	5708	broad.mit.edu	37	3	184019409	184019409	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184019409C>A	uc003fnn.1	+	4	475	c.442C>A	c.(442-444)CAG>AAG	p.Q148K	PSMD2_uc011brj.1_5'UTR|PSMD2_uc011brk.1_Missense_Mutation_p.Q18K	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	proteasome 26S non-ATPase subunit 2	148					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding				0	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)													---	---	---	---	capture		Missense_Mutation	SNP	184019409	184019409	13151	3	C	A	A	21	21	PSMD2	A	2	2
CRYGS	1427	broad.mit.edu	37	3	186256664	186256664	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186256664C>A	uc003fqe.2	-	3	410	c.358G>T	c.(358-360)GAG>TAG	p.E120*	CRYGS_uc003fqf.2_Nonsense_Mutation_p.E120*	NM_017541	NP_060011	P22914	CRBS_HUMAN	crystallin, gamma S	120	Beta/gamma crystallin 'Greek key' 3.						structural constituent of eye lens				0	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)														---	---	---	---	capture		Nonsense_Mutation	SNP	186256664	186256664	4058	3	C	A	A	30	30	CRYGS	A	5	2
MASP1	5648	broad.mit.edu	37	3	186974582	186974582	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186974582G>T	uc003frh.1	-	5	946	c.614C>A	c.(613-615)CCT>CAT	p.P205H	MASP1_uc003fri.2_Missense_Mutation_p.P205H|MASP1_uc003frj.2_Missense_Mutation_p.P174H|MASP1_uc003frk.1_Missense_Mutation_p.P205H|MASP1_uc011bse.1_Missense_Mutation_p.P179H	NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	205	Interaction with FCN2.|CUB 2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---	capture		Missense_Mutation	SNP	186974582	186974582	9706	3	G	T	T	35	35	MASP1	T	2	2
ATP13A4	84239	broad.mit.edu	37	3	193183867	193183867	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193183867C>A	uc003ftd.2	-	11	1327	c.1219G>T	c.(1219-1221)GGA>TGA	p.G407*	ATP13A4_uc003fte.1_Nonsense_Mutation_p.G407*|ATP13A4_uc011bsr.1_Intron|ATP13A4_uc010hzi.2_RNA|ATP13A4_uc003ftf.3_Nonsense_Mutation_p.G113*	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	ATPase type 13A4	407	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(2)	2	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)														---	---	---	---	capture		Nonsense_Mutation	SNP	193183867	193183867	1145	3	C	A	A	24	24	ATP13A4	A	5	2
OPA1	4976	broad.mit.edu	37	3	193349400	193349400	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193349400G>T	uc003ftm.2	+	6	859	c.625_splice	c.e6-1	p.V209_splice	OPA1_uc003ftg.2_Splice_Site_p.V264_splice|OPA1_uc003fth.2_Splice_Site_p.V228_splice|OPA1_uc003fti.2_Splice_Site_p.V246_splice|OPA1_uc003ftj.2_Splice_Site_p.V227_splice|OPA1_uc003ftk.2_Splice_Site_p.V210_splice|OPA1_uc003ftl.2_Splice_Site_p.V191_splice|OPA1_uc003ftn.2_Splice_Site_p.V173_splice	NM_015560	NP_056375			optic atrophy 1 isoform 1						apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)														---	---	---	---	capture		Splice_Site	SNP	193349400	193349400	11277	3	G	T	T	35	35	OPA1	T	5	2
WDR53	348793	broad.mit.edu	37	3	196281423	196281423	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196281423G>T	uc003fwt.2	-	4	1207	c.736C>A	c.(736-738)CAG>AAG	p.Q246K		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	246	WD 5.									breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)														---	---	---	---	capture		Missense_Mutation	SNP	196281423	196281423	17878	3	G	T	T	47	47	WDR53	T	2	2
PIGG	54872	broad.mit.edu	37	4	502758	502758	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:502758C>T	uc003gak.3	+	5	1036	c.900C>T	c.(898-900)CCC>CCT	p.P300P	PIGG_uc003gaj.3_Silent_p.P300P|PIGG_uc011bux.1_RNA|PIGG_uc010ibf.2_Silent_p.P167P|PIGG_uc003gal.3_Silent_p.P211P|PIGG_uc003gai.2_RNA|PIGG_uc011buw.1_Silent_p.P178P|PIGG_uc003gam.2_Silent_p.P211P|PIGG_uc003gan.2_Silent_p.P211P	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	300	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			central_nervous_system(2)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	502758	502758	12312	4	C	T	T	23	23	PIGG	T	1	1
TNIP2	79155	broad.mit.edu	37	4	2746619	2746619	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2746619G>A	uc003gfg.2	-	4	798	c.711C>T	c.(709-711)TAC>TAT	p.Y237Y	TNIP2_uc003gff.2_Silent_p.Y130Y|TNIP2_uc003gfh.2_Intron	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN	A20-binding inhibitor of NF-kappaB activation 2	237						cytosol	protein binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---	capture		Silent	SNP	2746619	2746619	16856	4	G	A	A	40	40	TNIP2	A	1	1
CPZ	8532	broad.mit.edu	37	4	8609097	8609097	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8609097A>T	uc003glm.2	+	7	1298	c.1172A>T	c.(1171-1173)GAC>GTC	p.D391V	CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.D254V|CPZ_uc003glo.2_Missense_Mutation_p.D380V|CPZ_uc003glp.2_RNA	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z isoform 1	391					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			ovary(2)|pancreas(1)	3																OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	8609097	8609097	3978	4	A	T	T	10	10	CPZ	T	4	4
C1QTNF7	114905	broad.mit.edu	37	4	15437385	15437385	+	Silent	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15437385T>C	uc011bxb.1	+	2	245	c.18T>C	c.(16-18)TAT>TAC	p.Y6Y	C1QTNF7_uc003gno.2_Silent_p.Y13Y|C1QTNF7_uc003gnp.2_Silent_p.Y6Y	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	6						collagen					0																		---	---	---	---	capture		Silent	SNP	15437385	15437385	2035	4	T	C	C	51	51	C1QTNF7	C	4	4
KCNIP4	80333	broad.mit.edu	37	4	20852248	20852248	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20852248C>A	uc003gqe.2	-	2	239	c.155G>T	c.(154-156)CGG>CTG	p.R52L	KCNIP4_uc003gqf.1_Missense_Mutation_p.R48L|KCNIP4_uc003gqg.1_Missense_Mutation_p.R7L|KCNIP4_uc003gqh.1_Missense_Mutation_p.R44L|KCNIP4_uc003gqi.1_Missense_Mutation_p.R7L|KCNIP4_uc010iel.2_Missense_Mutation_p.R49L|KCNIP4_uc003gqd.3_Missense_Mutation_p.R32L	NM_147182	NP_671711	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4 isoform 3	69	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity				0		Breast(46;0.134)																---	---	---	---	capture		Missense_Mutation	SNP	20852248	20852248	8347	4	C	A	A	23	23	KCNIP4	A	1	1
GBA3	57733	broad.mit.edu	37	4	22750521	22750521	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22750521C>G	uc003gqp.3	+	4	1236	c.1145C>G	c.(1144-1146)GCG>GGG	p.A382G	GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.A383G	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	cytosolic beta-glucosidase isoform a	382					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	22750521	22750521	6534	4	C	G	G	27	27	GBA3	G	3	3
PPARGC1A	10891	broad.mit.edu	37	4	23886493	23886493	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:23886493G>C	uc003gqs.2	-	2	236	c.116C>G	c.(115-117)TCT>TGT	p.S39C	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_5'Flank|PPARGC1A_uc010ier.1_RNA|PPARGC1A_uc003gqu.3_Missense_Mutation_p.S39C	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	39					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)																---	---	---	---	capture		Missense_Mutation	SNP	23886493	23886493	12730	4	G	C	C	33	33	PPARGC1A	C	3	3
DHX15	1665	broad.mit.edu	37	4	24541881	24541881	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:24541881G>T	uc003gqx.2	-	10	1804	c.1636C>A	c.(1636-1638)CTG>ATG	p.L546M	DHX15_uc003gqw.2_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 15	546					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			ovary(1)	1		Breast(46;0.0503)																---	---	---	---	capture		Missense_Mutation	SNP	24541881	24541881	4680	4	G	T	T	35	35	DHX15	T	2	2
SLC30A9	10463	broad.mit.edu	37	4	42062207	42062207	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42062207G>T	uc003gwl.2	+	10	987	c.841_splice	c.e10-1	p.G281_splice	SLC30A9_uc011byx.1_Splice_Site_p.G41_splice	NM_006345	NP_006336			solute carrier family 30 (zinc transporter),						nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Splice_Site	SNP	42062207	42062207	15059	4	G	T	T	35	35	SLC30A9	T	5	2
CWH43	80157	broad.mit.edu	37	4	49034612	49034612	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:49034612T>A	uc003gyv.2	+	12	1720	c.1538T>A	c.(1537-1539)GTG>GAG	p.V513E	CWH43_uc011bzl.1_Missense_Mutation_p.V486E	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog	513					GPI anchor biosynthetic process	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	49034612	49034612	4233	4	T	A	A	59	59	CWH43	A	4	4
EPHA5	2044	broad.mit.edu	37	4	66197847	66197847	+	Splice_Site	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66197847C>T	uc003hcy.2	-	17	3046	c.2853_splice	c.e17-1	p.R951_splice	EPHA5_uc003hcx.2_Splice_Site_p.R883_splice|EPHA5_uc003hcz.2_Splice_Site_p.R929_splice|EPHA5_uc011cah.1_Splice_Site_p.R952_splice|EPHA5_uc011cai.1_Splice_Site_p.R930_splice|EPHA5_uc003hda.2_Intron	NM_004439	NP_004430			ephrin receptor EphA5 isoform a precursor						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---	capture		Splice_Site	SNP	66197847	66197847	5363	4	C	T	T	32	32	EPHA5	T	5	2
EPHA5	2044	broad.mit.edu	37	4	66467453	66467453	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66467453G>T	uc003hcy.2	-	3	1009	c.816C>A	c.(814-816)CCC>CCA	p.P272P	EPHA5_uc003hcx.2_Silent_p.P203P|EPHA5_uc003hcz.2_Silent_p.P272P|EPHA5_uc011cah.1_Silent_p.P272P|EPHA5_uc011cai.1_Silent_p.P272P|EPHA5_uc003hda.2_Silent_p.P272P	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	272	Extracellular (Potential).|Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---	capture		Silent	SNP	66467453	66467453	5363	4	G	T	T	47	47	EPHA5	T	2	2
ADAMTS3	9508	broad.mit.edu	37	4	73149232	73149232	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73149232G>T	uc003hgk.1	-	22	3276	c.3239C>A	c.(3238-3240)CCT>CAT	p.P1080H		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1080					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73149232	73149232	268	4	G	T	T	35	35	ADAMTS3	T	2	2
ANKRD17	26057	broad.mit.edu	37	4	73963958	73963958	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73963958C>G	uc003hgp.2	-	26	4970	c.4853G>C	c.(4852-4854)AGG>ACG	p.R1618T	ANKRD17_uc003hgo.2_Missense_Mutation_p.R1505T|ANKRD17_uc003hgq.2_Missense_Mutation_p.R1367T|ANKRD17_uc003hgr.2_Missense_Mutation_p.R1617T	NM_032217	NP_115593	O75179	ANR17_HUMAN	ankyrin repeat domain protein 17 isoform a	1618	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---	capture		Missense_Mutation	SNP	73963958	73963958	649	4	C	G	G	24	24	ANKRD17	G	3	3
SHROOM3	57619	broad.mit.edu	37	4	77357318	77357318	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77357318G>T	uc011cbx.1	+	1	1066	c.113G>T	c.(112-114)TGG>TTG	p.W38L		NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	38	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---	capture		Missense_Mutation	SNP	77357318	77357318	14790	4	G	T	T	47	47	SHROOM3	T	2	2
SHROOM3	57619	broad.mit.edu	37	4	77652006	77652006	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77652006G>T	uc011cbx.1	+	4	1458	c.505G>T	c.(505-507)GGG>TGG	p.G169W	SHROOM3_uc011cbz.1_5'UTR|SHROOM3_uc003hkf.1_Missense_Mutation_p.G44W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	shroom family member 3 protein	169					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			skin(2)|ovary(1)	3			Lung(101;0.0903)															---	---	---	---	capture		Missense_Mutation	SNP	77652006	77652006	14790	4	G	T	T	47	47	SHROOM3	T	2	2
FAM175A	84142	broad.mit.edu	37	4	84403359	84403359	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84403359C>G	uc003hou.2	-	2	191	c.126G>C	c.(124-126)AAG>AAC	p.K42N	FAM175A_uc003hov.2_5'UTR	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	42	MPN-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	84403359	84403359	5703	4	C	G	G	32	32	FAM175A	G	3	3
CDS1	1040	broad.mit.edu	37	4	85553014	85553014	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85553014G>T	uc011ccv.1	+	6	1121	c.623G>T	c.(622-624)CGT>CTT	p.R208L	CDS1_uc010ike.1_Missense_Mutation_p.R12L	NM_001263	NP_001254	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase 1	208					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			large_intestine(2)|ovary(1)|breast(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)														---	---	---	---	capture		Missense_Mutation	SNP	85553014	85553014	3306	4	G	T	T	40	40	CDS1	T	1	1
ARHGAP24	83478	broad.mit.edu	37	4	86915934	86915934	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:86915934G>T	uc003hpk.2	+	9	1576	c.1127G>T	c.(1126-1128)TGG>TTG	p.W376L	ARHGAP24_uc003hpl.2_Missense_Mutation_p.W281L|ARHGAP24_uc010ikf.2_Missense_Mutation_p.W291L|ARHGAP24_uc003hpm.2_Missense_Mutation_p.W283L	NM_001025616	NP_001020787	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24 isoform 1	376					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)														---	---	---	---	capture		Missense_Mutation	SNP	86915934	86915934	885	4	G	T	T	47	47	ARHGAP24	T	2	2
NUDT9	53343	broad.mit.edu	37	4	88356326	88356326	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88356326G>A	uc003hqq.2	+	2	624	c.301G>A	c.(301-303)GCA>ACA	p.A101T	NUDT9_uc003hqr.2_Missense_Mutation_p.A51T|NUDT9_uc010ikl.2_Missense_Mutation_p.A101T	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	nudix-type motif 9 isoform a	101						mitochondrion	ADP-ribose diphosphatase activity				0		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)														---	---	---	---	capture		Missense_Mutation	SNP	88356326	88356326	11151	4	G	A	A	46	46	NUDT9	A	2	2
MMRN1	22915	broad.mit.edu	37	4	90857906	90857906	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:90857906G>C	uc003hst.2	+	6	3146	c.3075G>C	c.(3073-3075)CTG>CTC	p.L1025L	MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.L767L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	multimerin 1	1025					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				ovary(4)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)														---	---	---	---	capture		Silent	SNP	90857906	90857906	10061	4	G	C	C	45	45	MMRN1	C	3	3
ADH5	128	broad.mit.edu	37	4	99993838	99993838	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:99993838G>T	uc003hui.2	-	8	1066	c.986C>A	c.(985-987)CCA>CAA	p.P329Q	ADH5_uc003huj.2_Missense_Mutation_p.P207Q	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	329					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	99993838	99993838	312	4	G	T	T	47	47	ADH5	T	2	2
ENPEP	2028	broad.mit.edu	37	4	111470983	111470983	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:111470983A>T	uc003iab.3	+	17	2784	c.2442A>T	c.(2440-2442)CAA>CAT	p.Q814H		NM_001977	NP_001968	Q07075	AMPE_HUMAN	glutamyl aminopeptidase	814	Extracellular (Potential).				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			skin(3)|ovary(1)|breast(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	111470983	111470983	5321	4	A	T	T	3	3	ENPEP	T	4	4
ANK2	287	broad.mit.edu	37	4	114275479	114275479	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114275479C>A	uc003ibe.3	+	38	5805	c.5705C>A	c.(5704-5706)CCA>CAA	p.P1902Q	ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Missense_Mutation_p.P1917Q	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1869	Repeat-rich region.|Repeat A.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---	capture		Missense_Mutation	SNP	114275479	114275479	624	4	C	A	A	21	21	ANK2	A	2	2
KIAA1109	84162	broad.mit.edu	37	4	123122179	123122179	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123122179A>T	uc003ieh.2	+	13	1441	c.1396A>T	c.(1396-1398)AGC>TGC	p.S466C	KIAA1109_uc003iei.1_Missense_Mutation_p.S220C|KIAA1109_uc010ins.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	466					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---	capture		Missense_Mutation	SNP	123122179	123122179	8516	4	A	T	T	7	7	KIAA1109	T	4	4
FAT4	79633	broad.mit.edu	37	4	126402738	126402738	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126402738C>T	uc003ifj.3	+	15	12661	c.12661C>T	c.(12661-12663)CAG>TAG	p.Q4221*	FAT4_uc011cgp.1_Nonsense_Mutation_p.Q2462*|FAT4_uc003ifi.1_Nonsense_Mutation_p.Q1699*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	4221	Laminin G-like 2.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---	capture		Nonsense_Mutation	SNP	126402738	126402738	5928	4	C	T	T	29	29	FAT4	T	5	2
INPP4B	8821	broad.mit.edu	37	4	143003250	143003250	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:143003250G>C	uc003iix.3	-	26	3171	c.2576C>G	c.(2575-2577)TCA>TGA	p.S859*	INPP4B_uc003iiw.3_Nonsense_Mutation_p.S859*|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Nonsense_Mutation_p.S674*|INPP4B_uc011cho.1_RNA	NM_003866	NP_003857	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II,	859					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			ovary(1)|lung(1)	2	all_hematologic(180;0.158)																	---	---	---	---	capture		Nonsense_Mutation	SNP	143003250	143003250	8054	4	G	C	C	45	45	INPP4B	C	5	3
NR3C2	4306	broad.mit.edu	37	4	149357659	149357659	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:149357659G>T	uc003ilj.3	-	2	688	c.354C>A	c.(352-354)TCC>TCA	p.S118S	NR3C2_uc003ilk.3_Silent_p.S118S|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	118	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)													---	---	---	---	capture		Silent	SNP	149357659	149357659	11036	4	G	T	T	35	35	NR3C2	T	2	2
KIAA0922	23240	broad.mit.edu	37	4	154557706	154557706	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154557706C>A	uc003inm.3	+	35	4860	c.4808C>A	c.(4807-4809)TCG>TAG	p.S1603*	KIAA0922_uc010ipp.2_Nonsense_Mutation_p.S1604*|KIAA0922_uc010ipq.2_Nonsense_Mutation_p.S1372*	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	1603	Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---	capture		Nonsense_Mutation	SNP	154557706	154557706	8508	4	C	A	A	31	31	KIAA0922	A	5	1
FGA	2243	broad.mit.edu	37	4	155507939	155507939	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:155507939G>T	uc003iod.1	-	5	700	c.642C>A	c.(640-642)CCC>CCA	p.P214P	FGA_uc003ioe.1_Silent_p.P214P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	214	By similarity.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)													---	---	---	---	capture		Silent	SNP	155507939	155507939	6067	4	G	T	T	35	35	FGA	T	2	2
NPY2R	4887	broad.mit.edu	37	4	156135450	156135450	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156135450C>G	uc003ioq.2	+	2	854	c.359C>G	c.(358-360)CCT>CGT	p.P120R	NPY2R_uc003ior.2_Missense_Mutation_p.P120R	NM_000910	NP_000901	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	120	Extracellular (Potential).				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			lung(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0854)																---	---	---	---	capture		Missense_Mutation	SNP	156135450	156135450	11014	4	C	G	G	24	24	NPY2R	G	3	3
FAT1	2195	broad.mit.edu	37	4	187541079	187541079	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187541079C>A	uc003izf.2	-	10	6849	c.6661G>T	c.(6661-6663)GGA>TGA	p.G2221*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2221	Extracellular (Potential).|Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12															HNSCC(5;0.00058)			---	---	---	---	capture		Nonsense_Mutation	SNP	187541079	187541079	5925	4	C	A	A	23	23	FAT1	A	5	1
PDZD2	23037	broad.mit.edu	37	5	32101345	32101345	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32101345G>T	uc003jhl.2	+	24	8741	c.8353G>T	c.(8353-8355)GGT>TGT	p.G2785C	PDZD2_uc003jhm.2_Missense_Mutation_p.G2785C|PDZD2_uc003jhn.2_RNA	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2785	PDZ 6.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	32101345	32101345	12122	5	G	T	T	35	35	PDZD2	T	2	2
NUP155	9631	broad.mit.edu	37	5	37293025	37293025	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37293025C>T	uc003jku.1	-	34	4111	c.3993G>A	c.(3991-3993)TTG>TTA	p.L1331L	NUP155_uc003jkt.1_Silent_p.L1272L|NUP155_uc010iuz.1_Silent_p.L1267L	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	1331					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Silent	SNP	37293025	37293025	11161	5	C	T	T	29	29	NUP155	T	2	2
EGFLAM	133584	broad.mit.edu	37	5	38350668	38350668	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38350668G>T	uc003jlc.1	+	4	681	c.357G>T	c.(355-357)CAG>CAT	p.Q119H	EGFLAM_uc003jlb.1_Missense_Mutation_p.Q119H	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	119	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)																	---	---	---	---	capture		Missense_Mutation	SNP	38350668	38350668	5155	5	G	T	T	35	35	EGFLAM	T	2	2
CARD6	84674	broad.mit.edu	37	5	40852638	40852638	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40852638C>A	uc003jmg.2	+	3	1279	c.1204C>A	c.(1204-1206)CAG>AAG	p.Q402K		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	402					apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	40852638	40852638	2769	5	C	A	A	21	21	CARD6	A	2	2
C6	729	broad.mit.edu	37	5	41172358	41172358	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41172358G>T	uc003jmk.2	-	9	1470	c.1260C>A	c.(1258-1260)TGC>TGA	p.C420*	C6_uc003jml.1_Nonsense_Mutation_p.C420*	NM_000065	NP_000056	P13671	CO6_HUMAN	complement component 6 precursor	420	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)|skin(2)	7		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)																---	---	---	---	capture		Nonsense_Mutation	SNP	41172358	41172358	2416	5	G	T	T	46	46	C6	T	5	2
PLCXD3	345557	broad.mit.edu	37	5	41382435	41382435	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41382435T>A	uc003jmm.1	-	2	407	c.305A>T	c.(304-306)AAG>ATG	p.K102M		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	102	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	41382435	41382435	12469	5	T	A	A	56	56	PLCXD3	A	4	4
PLCXD3	345557	broad.mit.edu	37	5	41382437	41382437	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41382437G>A	uc003jmm.1	-	2	405	c.303C>T	c.(301-303)ACC>ACT	p.T101T		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X	101	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	6																		---	---	---	---	capture		Silent	SNP	41382437	41382437	12469	5	G	A	A	47	47	PLCXD3	A	2	2
C5orf34	375444	broad.mit.edu	37	5	43506176	43506176	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43506176G>T	uc003jnz.1	-	5	923	c.606C>A	c.(604-606)ATC>ATA	p.I202I	C5orf34_uc011cpx.1_Silent_p.I88I	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	hypothetical protein LOC375444	202										breast(1)	1	Lung NSC(6;2.07e-05)																	---	---	---	---	capture		Silent	SNP	43506176	43506176	2391	5	G	T	T	45	45	C5orf34	T	2	2
ERBB2IP	55914	broad.mit.edu	37	5	65349881	65349881	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:65349881G>T	uc003juk.1	+	21	3043	c.2735G>T	c.(2734-2736)AGG>ATG	p.R912M	ERBB2IP_uc003jui.1_Missense_Mutation_p.R912M|ERBB2IP_uc003juj.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqx.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqy.1_Missense_Mutation_p.R912M|ERBB2IP_uc011cqz.1_Intron|ERBB2IP_uc010iwx.1_Missense_Mutation_p.R908M|ERBB2IP_uc003jul.1_Missense_Mutation_p.R908M	NM_018695	NP_061165	Q96RT1	LAP2_HUMAN	ERBB2 interacting protein isoform 2	912					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			ovary(3)|lung(2)|central_nervous_system(2)	7		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)														---	---	---	---	capture		Missense_Mutation	SNP	65349881	65349881	5400	5	G	T	T	35	35	ERBB2IP	T	2	2
MAP1B	4131	broad.mit.edu	37	5	71495083	71495083	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:71495083C>T	uc003kbw.3	+	5	6142	c.5901C>T	c.(5899-5901)CCC>CCT	p.P1967P	MAP1B_uc010iyw.1_Silent_p.P1984P|MAP1B_uc010iyx.1_Silent_p.P1841P|MAP1B_uc010iyy.1_Silent_p.P1841P	NM_005909	NP_005900	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1967	MAP1B 6.					microtubule|microtubule associated complex	structural molecule activity			large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)														---	---	---	---	capture		Silent	SNP	71495083	71495083	9611	5	C	T	T	23	23	MAP1B	T	1	1
CKMT2	1160	broad.mit.edu	37	5	80554960	80554960	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80554960C>T	uc003khc.3	+	9	1143	c.901C>T	c.(901-903)CGA>TGA	p.R301*	RNU5E_uc011cto.1_Intron|CKMT2_uc010jaq.2_Nonsense_Mutation_p.R301*|CKMT2_uc003khd.3_Nonsense_Mutation_p.R301*|uc003khe.1_Intron|uc003khf.1_Intron|uc003khg.1_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	sarcomeric mitochondrial creatine kinase	301	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)													---	---	---	---	capture		Nonsense_Mutation	SNP	80554960	80554960	3587	5	C	T	T	19	19	CKMT2	T	5	1
GPR98	84059	broad.mit.edu	37	5	89999498	89999498	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89999498C>G	uc003kju.2	+	35	8268	c.8172C>G	c.(8170-8172)TTC>TTG	p.F2724L	GPR98_uc003kjt.2_Missense_Mutation_p.F430L|GPR98_uc003kjv.2_Missense_Mutation_p.F324L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	2724	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---	capture		Missense_Mutation	SNP	89999498	89999498	6997	5	C	G	G	30	30	GPR98	G	3	3
PCDHA6	56142	broad.mit.edu	37	5	140207755	140207755	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140207755G>T	uc003lho.2	+	1	106	c.79G>T	c.(79-81)GGG>TGG	p.G27W	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.G27W|PCDHA6_uc011dab.1_Missense_Mutation_p.G27W	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	27					homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140207755	140207755	11948	5	G	T	T	43	43	PCDHA6	T	2	2
PCDHA6	56142	broad.mit.edu	37	5	140208255	140208255	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140208255G>A	uc003lho.2	+	1	606	c.579G>A	c.(577-579)GGG>GGA	p.G193G	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.G193G|PCDHA6_uc011dab.1_Silent_p.G193G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	193	Cadherin 2.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140208255	140208255	11948	5	G	A	A	42	42	PCDHA6	A	2	2
PCDHB8	56128	broad.mit.edu	37	5	140558864	140558864	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140558864G>T	uc011dai.1	+	1	1435	c.1249G>T	c.(1249-1251)GAG>TAG	p.E417*	PCDHB16_uc003liv.2_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	protocadherin beta 8 precursor	417	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Nonsense_Mutation	SNP	140558864	140558864	11968	5	G	T	T	37	37	PCDHB8	T	5	1
PCDHB12	56124	broad.mit.edu	37	5	140590630	140590630	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140590630C>A	uc003liz.2	+	1	2340	c.2151C>A	c.(2149-2151)AGC>AGA	p.S717R	PCDHB12_uc011dak.1_Missense_Mutation_p.S380R|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	717	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---	capture		Missense_Mutation	SNP	140590630	140590630	11957	5	C	A	A	25	25	PCDHB12	A	2	2
PCDHGA1	56114	broad.mit.edu	37	5	140712633	140712633	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140712633C>A	uc003lji.1	+	1	2382	c.2382C>A	c.(2380-2382)CCC>CCA	p.P794P	PCDHGA1_uc011dan.1_Silent_p.P794P	NM_018912	NP_061735	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1 isoform 1	794	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|breast(1)|pancreas(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	140712633	140712633	11970	5	C	A	A	22	22	PCDHGA1	A	2	2
PCDHGB5	56101	broad.mit.edu	37	5	140778643	140778643	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140778643G>T	uc003lkf.1	+	1	949	c.949G>T	c.(949-951)GGG>TGG	p.G317W	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.G317W	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	317	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140778643	140778643	11986	5	G	T	T	35	35	PCDHGB5	T	2	2
DPYSL3	1809	broad.mit.edu	37	5	146778759	146778759	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:146778759G>T	uc003lon.1	-	11	1277	c.1167C>A	c.(1165-1167)GCC>GCA	p.A389A	DPYSL3_uc003loo.2_Silent_p.A503A	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	389					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Silent	SNP	146778759	146778759	4932	5	G	T	T	47	47	DPYSL3	T	2	2
CCNG1	900	broad.mit.edu	37	5	162866308	162866308	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:162866308C>A	uc003lzb.2	+	3	180	c.46C>A	c.(46-48)CAG>AAG	p.Q16K	CCNG1_uc011dek.1_Intron|CCNG1_uc011del.1_Intron|CCNG1_uc003lzc.2_RNA	NM_199246	NP_954854	P51959	CCNG1_HUMAN	cyclin G1	16					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				lung(1)|kidney(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)														---	---	---	---	capture		Missense_Mutation	SNP	162866308	162866308	3050	5	C	A	A	21	21	CCNG1	A	2	2
SLIT3	6586	broad.mit.edu	37	5	168096832	168096832	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168096832T>A	uc003mab.2	-	35	4712	c.4292A>T	c.(4291-4293)TAC>TTC	p.Y1431F	SLIT3_uc010jjg.2_Missense_Mutation_p.Y1438F	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1431	EGF-like 9.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---	capture		Missense_Mutation	SNP	168096832	168096832	15239	5	T	A	A	57	57	SLIT3	A	4	4
CPEB4	80315	broad.mit.edu	37	5	173317590	173317590	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173317590G>T	uc003mcs.3	+	1	2260	c.854G>T	c.(853-855)TGG>TTG	p.W285L	CPEB4_uc010jju.1_Missense_Mutation_p.W285L|CPEB4_uc010jjv.2_Missense_Mutation_p.W285L|CPEB4_uc011dfg.1_Missense_Mutation_p.W285L|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	285							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---	capture		Missense_Mutation	SNP	173317590	173317590	3941	5	G	T	T	47	47	CPEB4	T	2	2
GPRIN1	114787	broad.mit.edu	37	5	176026747	176026747	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176026747G>T	uc003meo.1	-	2	264	c.89C>A	c.(88-90)CCA>CAA	p.P30Q		NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	G protein-regulated inducer of neurite outgrowth	30						growth cone|plasma membrane				ovary(2)	2	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	176026747	176026747	7005	5	G	T	T	47	47	GPRIN1	T	2	2
HK3	3101	broad.mit.edu	37	5	176317909	176317909	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176317909A>T	uc003mfa.2	-	5	540	c.448T>A	c.(448-450)TTC>ATC	p.F150I	HK3_uc003mez.2_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	150	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Missense_Mutation	SNP	176317909	176317909	7483	5	A	T	T	2	2	HK3	T	4	4
NUP153	9972	broad.mit.edu	37	6	17629595	17629595	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17629595G>T	uc003ncd.1	-	18	3035	c.2835C>A	c.(2833-2835)CCC>CCA	p.P945P	NUP153_uc011dje.1_Silent_p.P976P|NUP153_uc010jpl.1_Silent_p.P903P	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	945					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			lung(4)|ovary(2)|breast(2)|skin(1)	9	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)															---	---	---	---	capture		Silent	SNP	17629595	17629595	11160	6	G	T	T	47	47	NUP153	T	2	2
LRRC16A	55604	broad.mit.edu	37	6	25600743	25600743	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25600743C>A	uc011djw.1	+	33	3697	c.3321C>A	c.(3319-3321)CCC>CCA	p.P1107P	LRRC16A_uc010jpx.2_Silent_p.P1107P|LRRC16A_uc010jpy.2_Silent_p.P1107P	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1107					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---	capture		Silent	SNP	25600743	25600743	9345	6	C	A	A	21	21	LRRC16A	A	2	2
STK38	11329	broad.mit.edu	37	6	36483123	36483123	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36483123C>T	uc003omg.2	-	6	1249	c.661G>A	c.(661-663)GAC>AAC	p.D221N	STK38_uc003omh.2_Missense_Mutation_p.D221N|STK38_uc003omi.2_Missense_Mutation_p.D221N	NM_007271	NP_009202	Q15208	STK38_HUMAN	serine/threonine kinase 38	221	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	36483123	36483123	15823	6	C	T	T	30	30	STK38	T	2	2
DAAM2	23500	broad.mit.edu	37	6	39836641	39836641	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39836641G>T	uc003oow.2	+	7	961	c.805G>T	c.(805-807)GAT>TAT	p.D269Y	DAAM2_uc010jxc.2_Missense_Mutation_p.D269Y|DAAM2_uc003oox.2_Missense_Mutation_p.D269Y	NM_015345	NP_056160	Q86T65	DAAM2_HUMAN	dishevelled associated activator of	269	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)|skin(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	39836641	39836641	4382	6	G	T	T	41	41	DAAM2	T	2	2
TREML4	285852	broad.mit.edu	37	6	41197298	41197298	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:41197298C>A	uc003oqc.2	+	3	538	c.434C>A	c.(433-435)CCA>CAA	p.P145Q	TREML4_uc003oqd.2_RNA	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid	145						extracellular region				breast(1)	1	Ovarian(28;0.0327)|Colorectal(47;0.196)																	---	---	---	---	capture		Missense_Mutation	SNP	41197298	41197298	17018	6	C	A	A	21	21	TREML4	A	2	2
PEX6	5190	broad.mit.edu	37	6	42946167	42946167	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42946167C>A	uc003otf.2	-	1	815	c.722G>T	c.(721-723)AGG>ATG	p.R241M	PEX6_uc010jya.2_RNA	NM_000287	NP_000278	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	241					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)	1			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)															---	---	---	---	capture		Missense_Mutation	SNP	42946167	42946167	12172	6	C	A	A	24	24	PEX6	A	2	2
PKHD1	5314	broad.mit.edu	37	6	51613076	51613076	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51613076G>T	uc003pah.1	-	58	9614	c.9338C>A	c.(9337-9339)TCT>TAT	p.S3113Y	PKHD1_uc010jzn.1_Missense_Mutation_p.S1096Y|PKHD1_uc003pai.2_Missense_Mutation_p.S3113Y	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3113	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Missense_Mutation	SNP	51613076	51613076	12396	6	G	T	T	33	33	PKHD1	T	2	2
BMP5	653	broad.mit.edu	37	6	55684595	55684595	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:55684595G>A	uc003pcq.2	-	2	1253	c.541C>T	c.(541-543)CGA>TGA	p.R181*	BMP5_uc011dxf.1_Nonsense_Mutation_p.R181*	NM_021073	NP_066551	P22003	BMP5_HUMAN	bone morphogenetic protein 5 preproprotein	181					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			ovary(2)	2	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)															---	---	---	---	capture		Nonsense_Mutation	SNP	55684595	55684595	1488	6	G	A	A	37	37	BMP5	A	5	1
DST	667	broad.mit.edu	37	6	56426228	56426228	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56426228G>C	uc003pdf.2	-	51	7859	c.7831C>G	c.(7831-7833)CAG>GAG	p.Q2611E	DST_uc003pcz.3_Missense_Mutation_p.Q2433E|DST_uc011dxj.1_Missense_Mutation_p.Q2462E|DST_uc011dxk.1_Missense_Mutation_p.Q2473E|DST_uc003pcy.3_Missense_Mutation_p.Q2107E	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	4519	Spectrin 4.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---	capture		Missense_Mutation	SNP	56426228	56426228	4967	6	G	C	C	45	45	DST	C	3	3
DST	667	broad.mit.edu	37	6	56462639	56462639	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56462639C>A	uc003pdf.2	-	41	5765	c.5737G>T	c.(5737-5739)GGA>TGA	p.G1913*	DST_uc003pcz.3_Nonsense_Mutation_p.G1735*|DST_uc011dxj.1_Nonsense_Mutation_p.G1764*|DST_uc011dxk.1_Nonsense_Mutation_p.G1775*|DST_uc003pcy.3_Nonsense_Mutation_p.G1409*|DST_uc010kaa.1_RNA	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	3821					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---	capture		Nonsense_Mutation	SNP	56462639	56462639	4967	6	C	A	A	21	21	DST	A	5	2
BAI3	577	broad.mit.edu	37	6	69653823	69653823	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:69653823G>T	uc003pev.3	+	6	1580	c.1132G>T	c.(1132-1134)GGA>TGA	p.G378*	BAI3_uc010kak.2_Nonsense_Mutation_p.G378*	NM_001704	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	378	Extracellular (Potential).|TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1)	50		all_lung(197;0.212)																---	---	---	---	capture		Nonsense_Mutation	SNP	69653823	69653823	1321	6	G	T	T	47	47	BAI3	T	5	2
COL19A1	1310	broad.mit.edu	37	6	70900066	70900066	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70900066G>T	uc003pfc.1	+	48	3192	c.3075G>T	c.(3073-3075)GAG>GAT	p.E1025D		NM_001858	NP_001849	Q14993	COJA1_HUMAN	alpha 1 type XIX collagen precursor	1025					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	70900066	70900066	3814	6	G	T	T	35	35	COL19A1	T	2	2
FILIP1	27145	broad.mit.edu	37	6	76023132	76023132	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76023132G>T	uc003pia.2	-	5	2789	c.2416C>A	c.(2416-2418)CAA>AAA	p.Q806K	FILIP1_uc003phy.1_Missense_Mutation_p.Q806K|FILIP1_uc003phz.2_Missense_Mutation_p.Q707K|FILIP1_uc010kbe.2_Missense_Mutation_p.Q809K|FILIP1_uc003pib.1_Missense_Mutation_p.Q558K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	806										skin(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	76023132	76023132	6132	6	G	T	T	47	47	FILIP1	T	2	2
GJA10	84694	broad.mit.edu	37	6	90605195	90605195	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90605195C>T	uc011eaa.1	+	1	1008	c.1008C>T	c.(1006-1008)AGC>AGT	p.S336S		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10	336	Cytoplasmic (Potential).				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity				0		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)												OREG0004442	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CX62|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	---	---	---	---	capture		Silent	SNP	90605195	90605195	6669	6	C	T	T	26	26	GJA10	T	2	2
CCNC	892	broad.mit.edu	37	6	99997415	99997415	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99997415G>A	uc003pqe.2	-	9	854	c.567C>T	c.(565-567)TGC>TGT	p.C189C	uc003pqc.2_Intron|CCNC_uc003pqd.2_Silent_p.C104C|CCNC_uc010kcr.2_RNA|CCNC_uc010kcs.2_Silent_p.C188C|CCNC_uc011eah.1_Silent_p.C104C	NM_005190	NP_005181	P24863	CCNC_HUMAN	cyclin C isoform a	189					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding				0		all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)														---	---	---	---	capture		Silent	SNP	99997415	99997415	3042	6	G	A	A	42	42	CCNC	A	2	2
ROS1	6098	broad.mit.edu	37	6	117631445	117631445	+	Splice_Site	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117631445C>A	uc003pxp.1	-	40	6433	c.6234_splice	c.e40-1	p.R2078_splice	ROS1_uc011ebi.1_Splice_Site	NM_002944	NP_002935			proto-oncogene c-ros-1 protein precursor						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)				T	GOPC|ROS1	glioblastoma|NSCLC								---	---	---	---	capture		Splice_Site	SNP	117631445	117631445	14010	6	C	A	A	24	24	ROS1	A	5	2
CLVS2	134829	broad.mit.edu	37	6	123332129	123332129	+	Splice_Site	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123332129G>T	uc003pzi.1	+	3	1259	c.390_splice	c.e3-1	p.R130_splice		NM_001010852	NP_001010852			retinaldehyde binding protein 1-like 2						lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Splice_Site	SNP	123332129	123332129	3710	6	G	T	T	35	35	CLVS2	T	5	2
L3MBTL3	84456	broad.mit.edu	37	6	130425710	130425710	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:130425710C>A	uc003qbt.2	+	19	2046	c.1876C>A	c.(1876-1878)CCT>ACT	p.P626T	L3MBTL3_uc003qbu.2_Missense_Mutation_p.P601T	NM_032438	NP_115814	Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 isoform a	626					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)														---	---	---	---	capture		Missense_Mutation	SNP	130425710	130425710	8916	6	C	A	A	22	22	L3MBTL3	A	2	2
SLC2A12	154091	broad.mit.edu	37	6	134312365	134312365	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:134312365G>T	uc003qem.1	-	5	1953	c.1782C>A	c.(1780-1782)CCC>CCA	p.P594P		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	594	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)														---	---	---	---	capture		Silent	SNP	134312365	134312365	15038	6	G	T	T	43	43	SLC2A12	T	2	2
GRM1	2911	broad.mit.edu	37	6	146351083	146351083	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146351083G>T	uc010khw.1	+	2	900	c.430G>T	c.(430-432)GGC>TGC	p.G144C	GRM1_uc010khu.1_Missense_Mutation_p.G144C|GRM1_uc010khv.1_Missense_Mutation_p.G144C|GRM1_uc003qll.2_Missense_Mutation_p.G144C|GRM1_uc011edz.1_Missense_Mutation_p.G144C|GRM1_uc011eea.1_Missense_Mutation_p.G144C	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	144	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	146351083	146351083	7075	6	G	T	T	39	39	GRM1	T	1	1
SASH1	23328	broad.mit.edu	37	6	148711341	148711341	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148711341C>T	uc003qme.1	+	2	703	c.228C>T	c.(226-228)GAC>GAT	p.D76D		NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	76							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---	capture		Silent	SNP	148711341	148711341	14329	6	C	T	T	19	19	SASH1	T	1	1
SYNE1	23345	broad.mit.edu	37	6	152665276	152665276	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152665276G>T	uc010kiw.2	-	74	12767	c.12165C>A	c.(12163-12165)GTC>GTA	p.V4055V	SYNE1_uc003qot.3_Silent_p.V3984V|SYNE1_uc003qou.3_Silent_p.V4055V|SYNE1_uc010kja.1_Silent_p.V760V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4055	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Silent	SNP	152665276	152665276	15966	6	G	T	T	41	41	SYNE1	T	2	2
SYNE1	23345	broad.mit.edu	37	6	152708431	152708431	+	Nonsense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152708431T>A	uc010kiw.2	-	54	8865	c.8263A>T	c.(8263-8265)AAA>TAA	p.K2755*	SYNE1_uc003qot.3_Nonsense_Mutation_p.K2762*|SYNE1_uc003qou.3_Nonsense_Mutation_p.K2755*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.K2738*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2755	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Nonsense_Mutation	SNP	152708431	152708431	15966	6	T	A	A	64	64	SYNE1	A	5	4
SYNE1	23345	broad.mit.edu	37	6	152757184	152757184	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152757184T>G	uc010kiw.2	-	33	4804	c.4202A>C	c.(4201-4203)AAG>ACG	p.K1401T	SYNE1_uc003qot.3_Missense_Mutation_p.K1408T|SYNE1_uc003qou.3_Missense_Mutation_p.K1401T|SYNE1_uc010kjb.1_Missense_Mutation_p.K1384T|SYNE1_uc003qow.2_Missense_Mutation_p.K696T|SYNE1_uc003qox.1_Missense_Mutation_p.K917T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1401	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	152757184	152757184	15966	6	T	G	G	56	56	SYNE1	G	4	4
ARID1B	57492	broad.mit.edu	37	6	157525063	157525063	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157525063G>T	uc003qqn.2	+	19	5056	c.4904G>T	c.(4903-4905)TGG>TTG	p.W1635L	ARID1B_uc003qqo.2_Missense_Mutation_p.W1595L|ARID1B_uc003qqp.2_Missense_Mutation_p.W1582L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1640					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---	capture		Missense_Mutation	SNP	157525063	157525063	929	6	G	T	T	47	47	ARID1B	T	2	2
ZDHHC14	79683	broad.mit.edu	37	6	158068348	158068348	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158068348G>T	uc003qqt.2	+	7	1410	c.913G>T	c.(913-915)GGA>TGA	p.G305*	ZDHHC14_uc003qqs.2_Nonsense_Mutation_p.G305*|ZDHHC14_uc010kjn.2_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14 isoform 1	305						integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|skin(1)	2		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)														---	---	---	---	capture		Nonsense_Mutation	SNP	158068348	158068348	18192	6	G	T	T	39	39	ZDHHC14	T	5	1
SNX9	51429	broad.mit.edu	37	6	158327175	158327175	+	Silent	SNP	G	A	A	rs138249048		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158327175G>A	uc003qqv.1	+	7	809	c.636G>A	c.(634-636)GCG>GCA	p.A212A		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	212	Critical for tubulation activity.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)														---	---	---	---	capture		Silent	SNP	158327175	158327175	15409	6	G	A	A	37	37	SNX9	A	1	1
SYNJ2	8871	broad.mit.edu	37	6	158502331	158502331	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158502331G>T	uc003qqx.1	+	19	2833	c.2758G>T	c.(2758-2760)GGG>TGG	p.G920W	SYNJ2_uc003qqw.1_Missense_Mutation_p.G920W|SYNJ2_uc003qqy.1_Missense_Mutation_p.G633W|SYNJ2_uc003qqz.1_Missense_Mutation_p.G537W|SYNJ2_uc003qra.1_Missense_Mutation_p.G263W	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	920	Catalytic (By similarity).|RRM.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)														---	---	---	---	capture		Missense_Mutation	SNP	158502331	158502331	15974	6	G	T	T	43	43	SYNJ2	T	2	2
UNC93A	54346	broad.mit.edu	37	6	167717471	167717471	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167717471G>T	uc003qvq.2	+	5	865	c.690G>T	c.(688-690)CGG>CGT	p.R230R	UNC93A_uc003qvr.2_Silent_p.R188R	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	230						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---	capture		Silent	SNP	167717471	167717471	17555	6	G	T	T	43	43	UNC93A	T	2	2
SDK1	221935	broad.mit.edu	37	7	4169550	4169550	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4169550G>T	uc003smx.2	+	27	4089	c.3950G>T	c.(3949-3951)CGG>CTG	p.R1317L	SDK1_uc010kso.2_Missense_Mutation_p.R593L|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1317	Fibronectin type-III 7.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---	capture		Missense_Mutation	SNP	4169550	4169550	14454	7	G	T	T	39	39	SDK1	T	1	1
PAPOLB	56903	broad.mit.edu	37	7	4900706	4900706	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4900706C>A	uc003snk.2	-	1	920	c.736G>T	c.(736-738)GGA>TGA	p.G246*	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	245					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)														---	---	---	---	capture		Nonsense_Mutation	SNP	4900706	4900706	11847	7	C	A	A	23	23	PAPOLB	A	5	1
GLCCI1	113263	broad.mit.edu	37	7	8125893	8125893	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8125893G>T	uc003srk.2	+	8	1928	c.1369G>T	c.(1369-1371)GGA>TGA	p.G457*		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	457											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)														---	---	---	---	capture		Nonsense_Mutation	SNP	8125893	8125893	6699	7	G	T	T	39	39	GLCCI1	T	5	1
HDAC9	9734	broad.mit.edu	37	7	18975551	18975551	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18975551C>A	uc003suh.2	+	22	2955	c.2914C>A	c.(2914-2916)CTT>ATT	p.L972I	HDAC9_uc003sue.2_Missense_Mutation_p.L972I|HDAC9_uc003sui.2_Missense_Mutation_p.L975I|HDAC9_uc003suj.2_Missense_Mutation_p.L931I|HDAC9_uc003suk.2_Missense_Mutation_p.L220I	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9 isoform 1	972	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)													---	---	---	---	capture		Missense_Mutation	SNP	18975551	18975551	7297	7	C	A	A	24	24	HDAC9	A	2	2
TWISTNB	221830	broad.mit.edu	37	7	19738049	19738049	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:19738049G>T	uc003sup.1	-	4	928	c.907C>A	c.(907-909)CAA>AAA	p.Q303K		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	303	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19738049	19738049	17340	7	G	T	T	47	47	TWISTNB	T	2	2
TWISTNB	221830	broad.mit.edu	37	7	19738252	19738252	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:19738252G>T	uc003sup.1	-	4	725	c.704C>A	c.(703-705)CCA>CAA	p.P235Q		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	TWIST neighbor	235	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	19738252	19738252	17340	7	G	T	T	47	47	TWISTNB	T	2	2
SP4	6671	broad.mit.edu	37	7	21550868	21550868	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21550868C>A	uc003sva.2	+	6	2517	c.2336C>A	c.(2335-2337)ACC>AAC	p.T779N	SP4_uc003svb.2_Missense_Mutation_p.T466N	NM_003112	NP_003103	Q02446	SP4_HUMAN	Sp4 transcription factor	779					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			ovary(3)|skin(2)	5																		---	---	---	---	capture		Missense_Mutation	SNP	21550868	21550868	15466	7	C	A	A	18	18	SP4	A	2	2
DNAH11	8701	broad.mit.edu	37	7	21757524	21757524	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21757524C>A	uc003svc.2	+	44	7167	c.7136C>A	c.(7135-7137)CCT>CAT	p.P2379H		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2379					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	21757524	21757524	4781	7	C	A	A	24	24	DNAH11	A	2	2
CDCA7L	55536	broad.mit.edu	37	7	21945920	21945920	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21945920C>A	uc010kuk.2	-	6	1028	c.908G>T	c.(907-909)AGG>ATG	p.R303M	CDCA7L_uc003sve.3_Missense_Mutation_p.R269M|CDCA7L_uc010kul.2_Missense_Mutation_p.R257M|CDCA7L_uc003svf.3_Missense_Mutation_p.R302M	NM_018719	NP_061189	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like isoform 1	303					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus					0																		---	---	---	---	capture		Missense_Mutation	SNP	21945920	21945920	3220	7	C	A	A	24	24	CDCA7L	A	2	2
C7orf46	340277	broad.mit.edu	37	7	23737842	23737842	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23737842C>A	uc003swo.3	+	5	758	c.669C>A	c.(667-669)CCC>CCA	p.P223P	C7orf46_uc003swq.3_Intron|C7orf46_uc003swr.3_Intron|C7orf46_uc003swp.3_RNA|C7orf46_uc010kup.2_Intron	NM_199136	NP_954587	A4D161	CG046_HUMAN	hypothetical protein LOC340277 isoform 1	223											0																		---	---	---	---	capture		Silent	SNP	23737842	23737842	2503	7	C	A	A	21	21	C7orf46	A	2	2
STK31	56164	broad.mit.edu	37	7	23775395	23775395	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:23775395C>A	uc003sws.3	+	7	789	c.722C>A	c.(721-723)CCT>CAT	p.P241H	STK31_uc003swt.3_Missense_Mutation_p.P218H|STK31_uc011jze.1_Missense_Mutation_p.P241H|STK31_uc010kuq.2_Missense_Mutation_p.P218H	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31 isoform a	241							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			skin(3)|lung(2)|ovary(2)|stomach(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	23775395	23775395	15816	7	C	A	A	24	24	STK31	A	2	2
TMED4	222068	broad.mit.edu	37	7	44620751	44620751	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44620751G>T	uc003tli.2	-	4	497	c.475C>A	c.(475-477)CGC>AGC	p.R159S	TMED4_uc003tlj.2_Missense_Mutation_p.R100S|TMED4_uc003tlk.2_Missense_Mutation_p.R159S|uc003tll.2_5'Flank	NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain	159	Lumenal (Potential).				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	44620751	44620751	16536	7	G	T	T	39	39	TMED4	T	1	1
CCM2	83605	broad.mit.edu	37	7	45113067	45113067	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45113067C>A	uc003tmo.2	+	8	958	c.812C>A	c.(811-813)CCT>CAT	p.P271H	CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Missense_Mutation_p.P213H|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.P180H|CCM2_uc003tms.2_Missense_Mutation_p.P292H	NM_031443	NP_113631	Q9BSQ5	CCM2_HUMAN	cerebral cavernous malformation 2 isoform 2	271					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding				0														Familial_Cerebral_Cavernous_Angioma				---	---	---	---	capture		Missense_Mutation	SNP	45113067	45113067	3035	7	C	A	A	24	24	CCM2	A	2	2
ABCA13	154664	broad.mit.edu	37	7	48266877	48266877	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48266877G>T	uc003toq.2	+	6	512	c.487G>T	c.(487-489)GAG>TAG	p.E163*	ABCA13_uc003top.2_Nonsense_Mutation_p.E163*|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	163					transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---	capture		Nonsense_Mutation	SNP	48266877	48266877	32	7	G	T	T	37	37	ABCA13	T	5	1
VWC2	375567	broad.mit.edu	37	7	49842319	49842319	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:49842319G>T	uc003tot.1	+	3	1265	c.709G>T	c.(709-711)GAG>TAG	p.E237*		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	237	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space					0																		---	---	---	---	capture		Nonsense_Mutation	SNP	49842319	49842319	17814	7	G	T	T	37	37	VWC2	T	5	1
GUSB	2990	broad.mit.edu	37	7	65429386	65429386	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65429386C>A	uc003tun.2	-	11	1789	c.1713G>T	c.(1711-1713)CTG>CTT	p.L571L	GUSB_uc011kdt.1_Silent_p.L425L	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	571					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0																		---	---	---	---	capture		Silent	SNP	65429386	65429386	7182	7	C	A	A	21	21	GUSB	A	2	2
GTF2IRD1	9569	broad.mit.edu	37	7	73944065	73944065	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73944065G>T	uc003uaq.2	+	9	1485	c.1092G>T	c.(1090-1092)GCG>GCT	p.A364A	GTF2IRD1_uc010lbq.2_Silent_p.A396A|GTF2IRD1_uc003uap.2_Silent_p.A364A|GTF2IRD1_uc003uar.1_Silent_p.A364A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1 isoform 1	364	GTF2I-like 2.					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---	capture		Silent	SNP	73944065	73944065	7148	7	G	T	T	39	39	GTF2IRD1	T	1	1
GNAT3	346562	broad.mit.edu	37	7	80108231	80108231	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:80108231C>T	uc011kgu.1	-	4	387	c.387G>A	c.(385-387)CGG>CGA	p.R129R	CD36_uc003uhc.2_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha	129					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	80108231	80108231	6782	7	C	T	T	26	26	GNAT3	T	2	2
SAMD9L	219285	broad.mit.edu	37	7	92763543	92763543	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92763543G>A	uc003umh.1	-	5	2958	c.1742C>T	c.(1741-1743)TCT>TTT	p.S581F	SAMD9L_uc003umj.1_Missense_Mutation_p.S581F|SAMD9L_uc003umi.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S581F|SAMD9L_uc003umk.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S581F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S581F|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	581										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---	capture		Missense_Mutation	SNP	92763543	92763543	14307	7	G	A	A	33	33	SAMD9L	A	2	2
AGFG2	3268	broad.mit.edu	37	7	100151098	100151098	+	Nonsense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100151098C>G	uc003uvf.2	+	4	696	c.560C>G	c.(559-561)TCA>TGA	p.S187*	AGFG2_uc003uvg.1_Intron|AGFG2_uc010lgy.2_Missense_Mutation_p.Q49E	NM_006076	NP_006067	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	187					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	100151098	100151098	384	7	C	G	G	29	29	AGFG2	G	5	3
MUC17	140453	broad.mit.edu	37	7	100677488	100677488	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100677488G>C	uc003uxp.1	+	3	2844	c.2791G>C	c.(2791-2793)GAC>CAC	p.D931H	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	931	Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|13.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---	capture		Missense_Mutation	SNP	100677488	100677488	10368	7	G	C	C	45	45	MUC17	C	3	3
LRRC17	10234	broad.mit.edu	37	7	102585004	102585004	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102585004A>G	uc003vau.2	+	4	1665	c.1276A>G	c.(1276-1278)AGA>GGA	p.R426G	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17 isoform 1	426					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	102585004	102585004	9347	7	A	G	G	15	15	LRRC17	G	4	4
RELN	5649	broad.mit.edu	37	7	103180820	103180820	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103180820G>C	uc003vca.2	-	44	6914	c.6754C>G	c.(6754-6756)CTC>GTC	p.L2252V	RELN_uc010liz.2_Missense_Mutation_p.L2252V	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2252	BNR 10.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---	capture		Missense_Mutation	SNP	103180820	103180820	13689	7	G	C	C	33	33	RELN	C	3	3
RELN	5649	broad.mit.edu	37	7	103205825	103205825	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103205825G>A	uc003vca.2	-	34	5270	c.5110C>T	c.(5110-5112)CCA>TCA	p.P1704S	RELN_uc010liz.2_Missense_Mutation_p.P1704S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1704					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---	capture		Missense_Mutation	SNP	103205825	103205825	13689	7	G	A	A	41	41	RELN	A	2	2
RELN	5649	broad.mit.edu	37	7	103230190	103230190	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103230190A>G	uc003vca.2	-	28	4158	c.3998T>C	c.(3997-3999)CTG>CCG	p.L1333P	RELN_uc010liz.2_Missense_Mutation_p.L1333P	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	1333	BNR 5.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---	capture		Missense_Mutation	SNP	103230190	103230190	13689	7	A	G	G	7	7	RELN	G	4	4
SLC26A3	1811	broad.mit.edu	37	7	107430079	107430079	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107430079G>T	uc003ver.2	-	6	836	c.625C>A	c.(625-627)CTC>ATC	p.L209I	SLC26A3_uc003ves.2_Missense_Mutation_p.L174I	NM_000111	NP_000102	P40879	S26A3_HUMAN	solute carrier family 26, member 3	209	Helical; (Potential).				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	107430079	107430079	15015	7	G	T	T	35	35	SLC26A3	T	2	2
LRRN3	54674	broad.mit.edu	37	7	110764903	110764903	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:110764903C>G	uc003vft.3	+	4	3121	c.2075C>G	c.(2074-2076)ACA>AGA	p.T692R	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.T692R|LRRN3_uc003vfs.3_Missense_Mutation_p.T692R	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	692	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)														---	---	---	---	capture		Missense_Mutation	SNP	110764903	110764903	9412	7	C	G	G	17	17	LRRN3	G	3	3
PPP1R3A	5506	broad.mit.edu	37	7	113519652	113519652	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:113519652C>G	uc010ljy.1	-	4	1526	c.1495G>C	c.(1495-1497)GAA>CAA	p.E499Q		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory (inhibitor)	499					glycogen metabolic process	integral to membrane				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34																		---	---	---	---	capture		Missense_Mutation	SNP	113519652	113519652	12806	7	C	G	G	32	32	PPP1R3A	G	3	3
PTPRZ1	5803	broad.mit.edu	37	7	121668637	121668637	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121668637G>T	uc003vjy.2	+	14	5415	c.5020G>T	c.(5020-5022)GAG>TAG	p.E1674*	PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.E814*|PTPRZ1_uc011knt.1_Nonsense_Mutation_p.E264*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1674	Cytoplasmic (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	121668637	121668637	13272	7	G	T	T	33	33	PTPRZ1	T	5	2
FEZF1	389549	broad.mit.edu	37	7	121944015	121944015	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121944015G>T	uc003vkd.2	-	1	551	c.477C>A	c.(475-477)GCC>GCA	p.A159A	FEZF1_uc003vkc.2_Intron|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	159					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3																		---	---	---	---	capture		Silent	SNP	121944015	121944015	6062	7	G	T	T	35	35	FEZF1	T	2	2
AKR1B15	441282	broad.mit.edu	37	7	134253033	134253033	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134253033C>A	uc011kpr.1	+	4	573	c.274C>A	c.(274-276)CAA>AAA	p.Q92K	AKR1B15_uc003vrt.2_Missense_Mutation_p.Q64K|AKR1B15_uc011kps.1_Missense_Mutation_p.Q64K	NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	92							oxidoreductase activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	134253033	134253033	471	7	C	A	A	21	21	AKR1B15	A	2	2
CHRM2	1129	broad.mit.edu	37	7	136699829	136699829	+	Missense_Mutation	SNP	G	T	T	rs11773032		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:136699829G>T	uc003vtf.1	+	4	840	c.217G>T	c.(217-219)GGT>TGT	p.G73C	CHRM2_uc003vtg.1_Missense_Mutation_p.G73C|CHRM2_uc003vtj.1_Missense_Mutation_p.G73C|CHRM2_uc003vtk.1_Missense_Mutation_p.G73C|CHRM2_uc003vtl.1_Missense_Mutation_p.G73C|CHRM2_uc003vtm.1_Missense_Mutation_p.G73C|CHRM2_uc003vti.1_Missense_Mutation_p.G73C|CHRM2_uc003vto.1_Missense_Mutation_p.G73C|CHRM2_uc003vtn.1_Missense_Mutation_p.G73C|uc003vtp.1_Intron	NM_001006630	NP_001006631	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	73	Helical; Name=2; (By similarity).				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			ovary(4)|central_nervous_system(1)	5					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)													---	---	---	---	capture		Missense_Mutation	SNP	136699829	136699829	3511	7	G	T	T	35	35	CHRM2	T	2	2
DGKI	9162	broad.mit.edu	37	7	137172424	137172424	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137172424C>A	uc003vtt.2	-	23	2315	c.2314G>T	c.(2314-2316)GGT>TGT	p.G772C	DGKI_uc003vtu.2_Missense_Mutation_p.G472C	NM_004717	NP_004708	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	772					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	137172424	137172424	4650	7	C	A	A	22	22	DGKI	A	2	2
WEE2	494551	broad.mit.edu	37	7	141420786	141420786	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141420786C>A	uc003vwn.2	+	5	1216	c.810C>A	c.(808-810)CCC>CCA	p.P270P	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	270	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)																	---	---	---	---	capture		Silent	SNP	141420786	141420786	17919	7	C	A	A	22	22	WEE2	A	2	2
ZNF786	136051	broad.mit.edu	37	7	148769495	148769495	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148769495G>T	uc003wfh.2	-	4	506	c.369C>A	c.(367-369)TCC>TCA	p.S123S	ZNF786_uc011kuk.1_Silent_p.S86S|ZNF786_uc003wfi.2_Silent_p.S37S	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	zinc finger protein 786	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|skin(1)	4	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---	capture		Silent	SNP	148769495	148769495	18756	7	G	T	T	35	35	ZNF786	T	2	2
NCAPG2	54892	broad.mit.edu	37	7	158439183	158439183	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158439183C>A	uc003wnv.1	-	25	3293	c.3148G>T	c.(3148-3150)GGA>TGA	p.G1050*	NCAPG2_uc010lqu.1_Nonsense_Mutation_p.G795*|NCAPG2_uc003wnw.1_RNA|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.G1050*|NCAPG2_uc011kwe.1_Nonsense_Mutation_p.G1050*|NCAPG2_uc011kwc.1_Nonsense_Mutation_p.G504*|NCAPG2_uc011kwd.1_Nonsense_Mutation_p.G493*	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	leucine zipper protein 5	1050					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			ovary(1)|breast(1)|kidney(1)	3	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)														---	---	---	---	capture		Nonsense_Mutation	SNP	158439183	158439183	10607	7	C	A	A	24	24	NCAPG2	A	5	2
MCPH1	79648	broad.mit.edu	37	8	6299593	6299593	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6299593C>A	uc003wqi.2	+	7	654	c.586C>A	c.(586-588)CAA>AAA	p.Q196K	MCPH1_uc003wqh.2_Missense_Mutation_p.Q196K|MCPH1_uc011kwl.1_Missense_Mutation_p.Q148K	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin	196						microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---	capture		Missense_Mutation	SNP	6299593	6299593	9787	8	C	A	A	21	21	MCPH1	A	2	2
DLC1	10395	broad.mit.edu	37	8	12943886	12943886	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:12943886C>A	uc003wwm.2	-	17	4823	c.4379G>T	c.(4378-4380)AGG>ATG	p.R1460M	DLC1_uc003wwk.1_Missense_Mutation_p.R1023M|DLC1_uc003wwl.1_Missense_Mutation_p.R1057M|DLC1_uc011kxx.1_Missense_Mutation_p.R949M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1460	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---	capture		Missense_Mutation	SNP	12943886	12943886	4730	8	C	A	A	24	24	DLC1	A	2	2
SLC18A1	6570	broad.mit.edu	37	8	20031914	20031914	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20031914G>C	uc011kyq.1	-	6	1060	c.589C>G	c.(589-591)CGA>GGA	p.R197G	SLC18A1_uc003wzl.2_5'Flank|SLC18A1_uc003wzm.2_Missense_Mutation_p.R197G|SLC18A1_uc011kyr.1_Missense_Mutation_p.R197G|SLC18A1_uc003wzn.2_Missense_Mutation_p.R197G|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.R197G	NM_001135691	NP_001129163	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine),	197	Lumenal, vesicle (Potential).				neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			ovary(2)	2				Colorectal(74;0.0747)														---	---	---	---	capture		Missense_Mutation	SNP	20031914	20031914	14921	8	G	C	C	39	39	SLC18A1	C	3	3
NEFM	4741	broad.mit.edu	37	8	24775752	24775752	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24775752C>A	uc003xed.3	+	3	2417	c.2384C>A	c.(2383-2385)TCC>TAC	p.S795Y	NEFM_uc011lac.1_Intron|NEFM_uc010lue.2_Missense_Mutation_p.S419Y	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	795	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)														---	---	---	---	capture		Missense_Mutation	SNP	24775752	24775752	10715	8	C	A	A	30	30	NEFM	A	2	2
WRN	7486	broad.mit.edu	37	8	31007883	31007883	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:31007883G>T	uc003xio.3	+	31	4387	c.3599G>T	c.(3598-3600)AGG>ATG	p.R1200M	WRN_uc010lvk.2_Missense_Mutation_p.R667M	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	1200	HRDC.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)				Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	31007883	31007883	17976	8	G	T	T	35	35	WRN	T	2	2
ASH2L	9070	broad.mit.edu	37	8	37986347	37986347	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37986347C>A	uc003xkt.3	+	12	1463	c.1405C>A	c.(1405-1407)CAC>AAC	p.H469N	ASH2L_uc011lbk.1_Missense_Mutation_p.H330N|ASH2L_uc003xku.3_Missense_Mutation_p.H375N|ASH2L_uc010lwa.2_Missense_Mutation_p.H375N	NM_004674	NP_004665	Q9UBL3	ASH2L_HUMAN	ash2-like isoform a	469	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			ovary(1)|lung(1)	2	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)																---	---	---	---	capture		Missense_Mutation	SNP	37986347	37986347	1061	8	C	A	A	21	21	ASH2L	A	2	2
PXDNL	137902	broad.mit.edu	37	8	52252201	52252201	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:52252201T>C	uc003xqu.3	-	21	4230	c.4129A>G	c.(4129-4131)ACA>GCA	p.T1377A	PXDNL_uc003xqt.3_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like precursor	1377					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			ovary(1)|pancreas(1)	2		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)																---	---	---	---	capture		Missense_Mutation	SNP	52252201	52252201	13306	8	T	C	C	59	59	PXDNL	C	4	4
RP1	6101	broad.mit.edu	37	8	55537262	55537262	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55537262C>A	uc003xsd.1	+	4	968	c.820C>A	c.(820-822)CAG>AAG	p.Q274K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	274					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---	capture		Missense_Mutation	SNP	55537262	55537262	14011	8	C	A	A	21	21	RP1	A	2	2
RRS1	23212	broad.mit.edu	37	8	67342384	67342384	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67342384G>T	uc003xwa.2	+	1	1122	c.1018G>T	c.(1018-1020)GGC>TGC	p.G340C	ADHFE1_uc003xwb.3_5'Flank|ADHFE1_uc003xwd.3_5'Flank|ADHFE1_uc003xwc.3_5'Flank|ADHFE1_uc003xwe.3_5'Flank|ADHFE1_uc003xwf.3_5'Flank|ADHFE1_uc011les.1_5'Flank|ADHFE1_uc011leq.1_5'Flank|ADHFE1_uc011ler.1_5'Flank	NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	340	Arg/Gly/Lys-rich.				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)															---	---	---	---	capture		Missense_Mutation	SNP	67342384	67342384	14172	8	G	T	T	35	35	RRS1	T	2	2
COPS5	10987	broad.mit.edu	37	8	67970422	67970422	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67970422C>A	uc003xxe.2	-	3	734	c.403G>T	c.(403-405)GGG>TGG	p.G135W	COPS5_uc003xxd.2_Missense_Mutation_p.G71W|COPS5_uc003xxf.2_Missense_Mutation_p.G180W|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.G135W	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	135	MPN.				cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---	capture		Missense_Mutation	SNP	67970422	67970422	3874	8	C	A	A	23	23	COPS5	A	1	1
ZFHX4	79776	broad.mit.edu	37	8	77767585	77767585	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77767585A>G	uc003yav.2	+	10	8680	c.8293A>G	c.(8293-8295)ATC>GTC	p.I2765V	ZFHX4_uc003yau.1_Missense_Mutation_p.I2810V|ZFHX4_uc003yaw.1_Missense_Mutation_p.I2765V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2765						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	77767585	77767585	18223	8	A	G	G	4	4	ZFHX4	G	4	4
RIPK2	8767	broad.mit.edu	37	8	90782012	90782012	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90782012G>T	uc003yee.2	+	4	810	c.496G>T	c.(496-498)GGT>TGT	p.G166C	RIPK2_uc003yef.2_Missense_Mutation_p.G29C	NM_003821	NP_003812	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	166	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.0474)															---	---	---	---	capture		Missense_Mutation	SNP	90782012	90782012	13858	8	G	T	T	47	47	RIPK2	T	2	2
RUNX1T1	862	broad.mit.edu	37	8	93017415	93017415	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:93017415G>T	uc003yfd.2	-	5	753	c.669C>A	c.(667-669)ACC>ACA	p.T223T	RUNX1T1_uc003yfc.1_Silent_p.T196T|RUNX1T1_uc003yfe.1_Silent_p.T186T|RUNX1T1_uc010mao.2_Silent_p.T196T|RUNX1T1_uc011lgi.1_Silent_p.T234T|RUNX1T1_uc003yfb.1_Silent_p.T186T|RUNX1T1_uc003yff.1_Silent_p.T186T	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	223					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)															---	---	---	---	capture		Silent	SNP	93017415	93017415	14227	8	G	T	T	47	47	RUNX1T1	T	2	2
ANKRD46	157567	broad.mit.edu	37	8	101540109	101540109	+	Nonsense_Mutation	SNP	G	T	T	rs140674239		TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101540109G>T	uc003yjm.2	-	4	638	c.434C>A	c.(433-435)TCG>TAG	p.S145*	ANKRD46_uc003yjn.1_Nonsense_Mutation_p.S145*|ANKRD46_uc003yjo.1_Nonsense_Mutation_p.S145*|ANKRD46_uc003yjp.1_Nonsense_Mutation_p.S145*	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	145						integral to membrane					0	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)															---	---	---	---	capture		Nonsense_Mutation	SNP	101540109	101540109	682	8	G	T	T	37	37	ANKRD46	T	5	1
RIMS2	9699	broad.mit.edu	37	8	104898026	104898026	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104898026G>T	uc003yls.2	+	2	774	c.533G>T	c.(532-534)CGT>CTT	p.R178L	RIMS2_uc003ylp.2_Missense_Mutation_p.R400L|RIMS2_uc003ylw.2_Missense_Mutation_p.R208L|RIMS2_uc003ylq.2_Missense_Mutation_p.R208L|RIMS2_uc003ylr.2_Missense_Mutation_p.R208L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	431					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)												HNSCC(12;0.0054)			---	---	---	---	capture		Missense_Mutation	SNP	104898026	104898026	13845	8	G	T	T	40	40	RIMS2	T	1	1
TRHR	7201	broad.mit.edu	37	8	110131291	110131291	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110131291G>T	uc003ymz.3	+	2	820	c.804G>T	c.(802-804)CTG>CTT	p.L268L		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	268	Helical; Name=6; (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)															---	---	---	---	capture		Silent	SNP	110131291	110131291	17024	8	G	T	T	47	47	TRHR	T	2	2
ENPP2	5168	broad.mit.edu	37	8	120594810	120594810	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120594810C>A	uc003yot.1	-	18	1662	c.1576G>T	c.(1576-1578)GGG>TGG	p.G526W	ENPP2_uc011lic.1_Missense_Mutation_p.G43W|ENPP2_uc003yor.1_Missense_Mutation_p.G165W|ENPP2_uc003yos.1_Missense_Mutation_p.G578W|ENPP2_uc010mdd.1_Missense_Mutation_p.G526W	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	autotaxin isoform 2 preproprotein	526					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---	capture		Missense_Mutation	SNP	120594810	120594810	5323	8	C	A	A	21	21	ENPP2	A	2	2
DEPDC6	64798	broad.mit.edu	37	8	120940802	120940802	+	Silent	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120940802G>C	uc003yow.3	+	2	472	c.285G>C	c.(283-285)CGG>CGC	p.R95R	DEPDC6_uc011lid.1_Intron	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	DEP domain containing 6	95	DEP 1.				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding				0	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---	capture		Silent	SNP	120940802	120940802	4622	8	G	C	C	43	43	DEPDC6	C	3	3
MTSS1	9788	broad.mit.edu	37	8	125565394	125565394	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125565394G>T	uc003yrk.2	-	14	2641	c.2107C>A	c.(2107-2109)CCA>ACA	p.P703T	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.P352T|MTSS1_uc011lin.1_Missense_Mutation_p.P477T|MTSS1_uc011lio.1_Missense_Mutation_p.P593T|MTSS1_uc003yri.2_Missense_Mutation_p.P421T|MTSS1_uc003yrj.2_Missense_Mutation_p.P678T|MTSS1_uc003yrl.2_Missense_Mutation_p.P707T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	703	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---	capture		Missense_Mutation	SNP	125565394	125565394	10355	8	G	T	T	43	43	MTSS1	T	2	2
KCNQ3	3786	broad.mit.edu	37	8	133150161	133150161	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133150161C>G	uc003ytj.2	-	12	1896	c.1671G>C	c.(1669-1671)ATG>ATC	p.M557I	KCNQ3_uc010mdt.2_Missense_Mutation_p.M557I	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	557					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---	capture		Missense_Mutation	SNP	133150161	133150161	8389	8	C	G	G	25	25	KCNQ3	G	3	3
FLJ43860	389690	broad.mit.edu	37	8	142477649	142477649	+	Splice_Site	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142477649C>G	uc003ywi.2	-	18	2254	c.2173_splice	c.e18-1	p.D725_splice	FLJ43860_uc011ljs.1_Splice_Site|FLJ43860_uc010meu.1_Splice_Site	NM_207414	NP_997297			hypothetical protein LOC389690								binding				0	all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)															---	---	---	---	capture		Splice_Site	SNP	142477649	142477649	6170	8	C	G	G	24	24	FLJ43860	G	5	3
ZNF696	79943	broad.mit.edu	37	8	144378212	144378212	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144378212C>A	uc003yxy.3	+	3	776	c.367C>A	c.(367-369)CGG>AGG	p.R123R		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)															---	---	---	---	capture		Silent	SNP	144378212	144378212	18694	8	C	A	A	27	27	ZNF696	A	1	1
TOP1MT	116447	broad.mit.edu	37	8	144406177	144406177	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144406177T>C	uc003yxz.2	-	7	971	c.952A>G	c.(952-954)ATC>GTC	p.I318V	TOP1MT_uc011lkd.1_Missense_Mutation_p.I220V|TOP1MT_uc011lke.1_Missense_Mutation_p.I220V|TOP1MT_uc010mfb.2_Missense_Mutation_p.I220V|TOP1MT_uc011lkf.1_Missense_Mutation_p.I113V|TOP1MT_uc010mfd.1_Missense_Mutation_p.I113V	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	318					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)													---	---	---	---	capture		Missense_Mutation	SNP	144406177	144406177	16906	8	T	C	C	51	51	TOP1MT	C	4	4
PLEC	5339	broad.mit.edu	37	8	144997715	144997715	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144997715G>A	uc003zaf.1	-	31	6963	c.6793C>T	c.(6793-6795)CGG>TGG	p.R2265W	PLEC_uc003zab.1_Missense_Mutation_p.R2128W|PLEC_uc003zac.1_Missense_Mutation_p.R2132W|PLEC_uc003zad.2_Missense_Mutation_p.R2128W|PLEC_uc003zae.1_Missense_Mutation_p.R2096W|PLEC_uc003zag.1_Missense_Mutation_p.R2106W|PLEC_uc003zah.2_Missense_Mutation_p.R2114W|PLEC_uc003zaj.2_Missense_Mutation_p.R2155W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	2265	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	144997715	144997715	12478	8	G	A	A	39	39	PLEC	A	1	1
DOCK8	81704	broad.mit.edu	37	9	312050	312050	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:312050C>T	uc003zgf.2	+	6	737	c.625C>T	c.(625-627)CGG>TGG	p.R209W	DOCK8_uc011lls.1_Missense_Mutation_p.R209W|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.R141W|DOCK8_uc010mgt.2_Missense_Mutation_p.R141W|DOCK8_uc003zgg.2_Missense_Mutation_p.R141W|DOCK8_uc003zgh.2_RNA	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	209					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)														---	---	---	---	capture		Missense_Mutation	SNP	312050	312050	4877	9	C	T	T	27	27	DOCK8	T	1	1
VLDLR	7436	broad.mit.edu	37	9	2635531	2635531	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2635531G>T	uc003zhk.1	+	2	558	c.161G>T	c.(160-162)GGG>GTG	p.G54V	VLDLR_uc003zhl.1_Missense_Mutation_p.G54V|VLDLR_uc003zhm.1_RNA|VLDLR_uc003zhn.1_Missense_Mutation_p.G54V	NM_003383	NP_003374	P98155	VLDLR_HUMAN	very low density lipoprotein receptor isoform a	54	Extracellular (Potential).|LDL-receptor class A 1.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)														---	---	---	---	capture		Missense_Mutation	SNP	2635531	2635531	17741	9	G	T	T	43	43	VLDLR	T	2	2
RFX3	5991	broad.mit.edu	37	9	3270516	3270516	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3270516A>C	uc003zhr.2	-	12	1524	c.1212T>G	c.(1210-1212)AGT>AGG	p.S404R	RFX3_uc010mhd.2_Missense_Mutation_p.S404R|RFX3_uc003zhs.1_Missense_Mutation_p.S404R	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	404					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)														---	---	---	---	capture		Missense_Mutation	SNP	3270516	3270516	13736	9	A	C	C	6	6	RFX3	C	4	4
JAK2	3717	broad.mit.edu	37	9	5080250	5080250	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5080250G>T	uc010mhm.2	+	16	2266	c.2153G>T	c.(2152-2154)TGG>TTG	p.W718L	JAK2_uc003ziw.2_Missense_Mutation_p.W718L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Janus kinase 2	718	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)	haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1)	28641	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)			1	T|Mis|O	ETV6|PCM1|BCR	ALL|AML|MPD| CML				Polycythemia_Vera_Familial				---	---	---	---	capture		Missense_Mutation	SNP	5080250	5080250	8242	9	G	T	T	47	47	JAK2	T	2	2
ERMP1	79956	broad.mit.edu	37	9	5811144	5811144	+	Missense_Mutation	SNP	G	T	T	rs139768756	byFrequency	TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5811144G>T	uc003zjm.1	-	7	1348	c.1294C>A	c.(1294-1296)CTG>ATG	p.L432M	ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_Missense_Mutation_p.L46M	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN	aminopeptidase Fxna	432	Cytoplasmic (Potential).				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			ovary(1)	1		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	5811144	5811144	5429	9	G	T	T	35	35	ERMP1	T	2	2
RANBP6	26953	broad.mit.edu	37	9	6014019	6014019	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6014019G>A	uc003zjr.2	-	1	1600	c.1589C>T	c.(1588-1590)ACA>ATA	p.T530I	RANBP6_uc011lmf.1_Missense_Mutation_p.T178I|RANBP6_uc003zjs.2_Missense_Mutation_p.T118I	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	530					protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	6014019	6014019	13491	9	G	A	A	48	48	RANBP6	A	2	2
RRAGA	10670	broad.mit.edu	37	9	19049819	19049819	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19049819G>A	uc003znj.2	+	1	448	c.162G>A	c.(160-162)GGG>GGA	p.G54G		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	54					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity				0																		---	---	---	---	capture		Silent	SNP	19049819	19049819	14152	9	G	A	A	41	41	RRAGA	A	2	2
PLIN2	123	broad.mit.edu	37	9	19119765	19119765	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19119765C>A	uc003zno.2	-	6	839	c.660G>T	c.(658-660)CTG>CTT	p.L220L	PLIN2_uc011lna.1_Silent_p.L192L|PLIN2_uc011lnb.1_Missense_Mutation_p.W177L	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	adipose differentiation-related protein	220					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2																		---	---	---	---	capture		Silent	SNP	19119765	19119765	12516	9	C	A	A	21	21	PLIN2	A	2	2
DENND4C	55667	broad.mit.edu	37	9	19328110	19328110	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19328110G>T	uc003znq.2	+	12	1528	c.1495G>T	c.(1495-1497)GGG>TGG	p.G499W	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	499						integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	19328110	19328110	4614	9	G	T	T	47	47	DENND4C	T	2	2
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21971003C>A	uc003zpk.2	-	2	567	c.355G>T	c.(355-357)GAG>TAG	p.E119*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Nonstop_Mutation_p.*174L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1	119	ANK 4.		E -> Q (in a biliary tract tumor).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(13)|p.E119Q(2)|p.E119*(2)|p.A118fs*10(1)|p.A118fs*27(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)			17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	---	---	---	capture		Nonsense_Mutation	SNP	21971003	21971003	3290	9	C	A	A	29	29	CDKN2A	A	5	2
DDX58	23586	broad.mit.edu	37	9	32485214	32485214	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32485214C>A	uc003zra.2	-	10	1597	c.1439G>T	c.(1438-1440)AGG>ATG	p.R480M	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.R435M|DDX58_uc011lnr.1_Missense_Mutation_p.R277M|DDX58_uc010mji.2_Missense_Mutation_p.R409M	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	480					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)														---	---	---	---	capture		Missense_Mutation	SNP	32485214	32485214	4546	9	C	A	A	24	24	DDX58	A	2	2
MAMDC2	256691	broad.mit.edu	37	9	72724662	72724662	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:72724662G>T	uc004ahm.2	+	4	1064	c.447G>T	c.(445-447)CAG>CAT	p.Q149H	MAMDC2_uc004ahn.2_RNA	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	MAM domain containing 2 precursor	149	MAM 1.					endoplasmic reticulum|membrane				central_nervous_system(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	72724662	72724662	9586	9	G	T	T	35	35	MAMDC2	T	2	2
TRPM3	80036	broad.mit.edu	37	9	73225657	73225657	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73225657C>A	uc004aid.2	-	18	2743	c.2499G>T	c.(2497-2499)TTG>TTT	p.L833F	TRPM3_uc004ahu.2_Missense_Mutation_p.L663F|TRPM3_uc004ahv.2_Missense_Mutation_p.L635F|TRPM3_uc004ahw.2_Missense_Mutation_p.L705F|TRPM3_uc004ahx.2_Missense_Mutation_p.L692F|TRPM3_uc004ahy.2_Missense_Mutation_p.L695F|TRPM3_uc004ahz.2_Missense_Mutation_p.L682F|TRPM3_uc004aia.2_Missense_Mutation_p.L680F|TRPM3_uc004aib.2_Missense_Mutation_p.L670F|TRPM3_uc004aic.2_Missense_Mutation_p.L833F	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	858	Extracellular (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---	capture		Missense_Mutation	SNP	73225657	73225657	17138	9	C	A	A	21	21	TRPM3	A	2	2
TRPM6	140803	broad.mit.edu	37	9	77377029	77377029	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77377029G>T	uc004ajl.1	-	26	4796	c.4558C>A	c.(4558-4560)CAG>AAG	p.Q1520K	TRPM6_uc004ajk.1_Missense_Mutation_p.Q1515K|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.Q476K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1520	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	77377029	77377029	17141	9	G	T	T	45	45	TRPM6	T	2	2
TRPM6	140803	broad.mit.edu	37	9	77377544	77377544	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77377544G>T	uc004ajl.1	-	26	4281	c.4043C>A	c.(4042-4044)CCC>CAC	p.P1348H	TRPM6_uc004ajk.1_Missense_Mutation_p.P1343H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.P304H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1348	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	77377544	77377544	17141	9	G	T	T	43	43	TRPM6	T	2	2
TRPM6	140803	broad.mit.edu	37	9	77377694	77377694	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77377694C>A	uc004ajl.1	-	26	4131	c.3893G>T	c.(3892-3894)GGG>GTG	p.G1298V	TRPM6_uc004ajk.1_Missense_Mutation_p.G1293V|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.G254V	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1298	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	77377694	77377694	17141	9	C	A	A	22	22	TRPM6	A	2	2
TRPM6	140803	broad.mit.edu	37	9	77431640	77431640	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77431640C>G	uc004ajl.1	-	11	1491	c.1253G>C	c.(1252-1254)TGG>TCG	p.W418S	TRPM6_uc004ajk.1_Missense_Mutation_p.W413S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.W418S|TRPM6_uc010mpd.1_Missense_Mutation_p.W418S|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	418	Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	77431640	77431640	17141	9	C	G	G	21	21	TRPM6	G	3	3
PRUNE2	158471	broad.mit.edu	37	9	79259819	79259819	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79259819G>C	uc010mpk.2	-	12	8688	c.8564C>G	c.(8563-8565)ACA>AGA	p.T2855R	PRUNE2_uc011lsk.1_Missense_Mutation_p.T104R|PRUNE2_uc011lsl.1_Missense_Mutation_p.T119R|PRUNE2_uc011lsm.1_Missense_Mutation_p.T120R|PRUNE2_uc004akj.3_Missense_Mutation_p.T309R|PRUNE2_uc010mpl.1_Missense_Mutation_p.T309R	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	2855					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	79259819	79259819	13092	9	G	C	C	48	48	PRUNE2	C	3	3
FOXB2	442425	broad.mit.edu	37	9	79635479	79635479	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79635479C>A	uc004ako.1	+	1	909	c.909C>A	c.(907-909)CCC>CCA	p.P303P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	303					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0																		---	---	---	---	capture		Silent	SNP	79635479	79635479	6235	9	C	A	A	23	23	FOXB2	A	1	1
FLJ46321	389763	broad.mit.edu	37	9	84610038	84610038	+	Silent	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84610038T>C	uc004amn.2	+	4	4700	c.4653T>C	c.(4651-4653)TTT>TTC	p.F1551F		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	1551						integral to membrane					0																		---	---	---	---	capture		Silent	SNP	84610038	84610038	6174	9	T	C	C	61	61	FLJ46321	C	4	4
CTSL1	1514	broad.mit.edu	37	9	90342970	90342970	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90342970G>T	uc004aph.2	+	3	505	c.155G>T	c.(154-156)TGG>TTG	p.W52L	CTSL1_uc004api.2_Missense_Mutation_p.W52L|CTSL1_uc004apj.2_5'UTR|CTSL1_uc010mqh.2_Intron|CTSL1_uc004apk.2_Missense_Mutation_p.W52L|CTSL1_uc004apl.2_Missense_Mutation_p.W52L	NM_001912	NP_001903	P07711	CATL1_HUMAN	cathepsin L1 preproprotein	52					macrophage apoptosis|proteolysis	extracellular region|lysosome|nucleus	cysteine-type endopeptidase activity|histone binding			ovary(3)	3					Glucagon recombinant(DB00040)													---	---	---	---	capture		Missense_Mutation	SNP	90342970	90342970	4197	9	G	T	T	47	47	CTSL1	T	2	2
C9orf3	84909	broad.mit.edu	37	9	97844894	97844894	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:97844894G>T	uc004ava.2	+	15	2492	c.2357G>T	c.(2356-2358)AGT>ATT	p.S786I	C9orf3_uc004auy.2_Missense_Mutation_p.S687I|C9orf3_uc004avc.2_Intron|C9orf3_uc011luj.1_Missense_Mutation_p.S148I|C9orf3_uc011luk.1_Missense_Mutation_p.S127I|C9orf3_uc004avd.2_Missense_Mutation_p.S148I|MIR23B_hsa-mir-23b|MI0000439_5'Flank|uc004avg.3_5'Flank|MIR27B_hsa-mir-27b|MI0000440_5'Flank	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	786					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)														---	---	---	---	capture		Missense_Mutation	SNP	97844894	97844894	2592	9	G	T	T	36	36	C9orf3	T	2	2
ZNF782	158431	broad.mit.edu	37	9	99581848	99581848	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99581848G>T	uc004awp.1	-	6	738	c.457C>A	c.(457-459)CCA>ACA	p.P153T	ZNF782_uc011lup.1_Missense_Mutation_p.P21T	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0527)																---	---	---	---	capture		Missense_Mutation	SNP	99581848	99581848	18753	9	G	T	T	43	43	ZNF782	T	2	2
HEMGN	55363	broad.mit.edu	37	9	100692888	100692888	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100692888T>A	uc004axy.2	-	3	897	c.789A>T	c.(787-789)AAA>AAT	p.K263N	HEMGN_uc004axz.2_Missense_Mutation_p.K263N	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	263					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---	capture		Missense_Mutation	SNP	100692888	100692888	7333	9	T	A	A	60	60	HEMGN	A	4	4
HEMGN	55363	broad.mit.edu	37	9	100693092	100693092	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100693092C>A	uc004axy.2	-	3	693	c.585G>T	c.(583-585)AAG>AAT	p.K195N	HEMGN_uc004axz.2_Missense_Mutation_p.K195N	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	195					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---	capture		Missense_Mutation	SNP	100693092	100693092	7333	9	C	A	A	24	24	HEMGN	A	2	2
ALG2	85365	broad.mit.edu	37	9	101980729	101980729	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101980729G>A	uc004azf.2	-	2	808	c.738C>T	c.(736-738)GCC>GCT	p.A246A	ALG2_uc004azg.2_Silent_p.A153A	NM_033087	NP_149078	Q9H553	ALG2_HUMAN	alpha-1,3-mannosyltransferase ALG2	246					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			ovary(2)	2		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---	capture		Silent	SNP	101980729	101980729	522	9	G	A	A	43	43	ALG2	A	2	2
OR13C8	138802	broad.mit.edu	37	9	107331952	107331952	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107331952C>G	uc011lvo.1	+	1	504	c.504C>G	c.(502-504)TTC>TTG	p.F168L		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C,	168	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	107331952	107331952	11344	9	C	G	G	32	32	OR13C8	G	3	3
ABCA1	19	broad.mit.edu	37	9	107550224	107550224	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107550224C>T	uc004bcl.2	-	46	6494	c.6181G>A	c.(6181-6183)GGC>AGC	p.G2061S	NIPSNAP3B_uc004bcj.1_RNA	NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	2061	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---	capture		Missense_Mutation	SNP	107550224	107550224	29	9	C	T	T	23	23	ABCA1	T	1	1
SVEP1	79987	broad.mit.edu	37	9	113241915	113241915	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113241915C>T	uc010mtz.2	-	13	2824	c.2487G>A	c.(2485-2487)ATG>ATA	p.M829I	SVEP1_uc010mua.1_Missense_Mutation_p.M829I|SVEP1_uc004beu.2_Missense_Mutation_p.M829I	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	polydom	829					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			ovary(7)	7																		---	---	---	---	capture		Missense_Mutation	SNP	113241915	113241915	15940	9	C	T	T	21	21	SVEP1	T	2	2
ZFP37	7539	broad.mit.edu	37	9	115806333	115806333	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115806333C>A	uc004bgm.1	-	4	593	c.565G>T	c.(565-567)GAT>TAT	p.D189Y	ZFP37_uc011lwz.1_Missense_Mutation_p.D204Y|ZFP37_uc011lxa.1_Missense_Mutation_p.D190Y	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	189						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	115806333	115806333	18236	9	C	A	A	32	32	ZFP37	A	2	2
FKBP15	23307	broad.mit.edu	37	9	115956357	115956357	+	Silent	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115956357G>T	uc004bgs.2	-	10	1075	c.957C>A	c.(955-957)CTC>CTA	p.L319L	FKBP15_uc010muu.1_Silent_p.L383L|FKBP15_uc011lxd.1_Silent_p.L251L|FKBP15_uc010mut.1_Silent_p.L187L|FKBP15_uc004bgt.2_Silent_p.L319L	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	319					endocytosis|protein folding	axon|early endosome	actin binding			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	115956357	115956357	6143	9	G	T	T	33	33	FKBP15	T	2	2
COL27A1	85301	broad.mit.edu	37	9	116984503	116984503	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116984503G>T	uc011lxl.1	+	14	2422	c.2422G>T	c.(2422-2424)GGA>TGA	p.G808*	COL27A1_uc004bii.2_RNA	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	808	Pro-rich.|Triple-helical region.|Collagen-like 4.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4																		---	---	---	---	capture		Nonsense_Mutation	SNP	116984503	116984503	3823	9	G	T	T	43	43	COL27A1	T	5	2
GSN	2934	broad.mit.edu	37	9	124083615	124083615	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:124083615G>T	uc004blf.1	+	10	1475	c.1414G>T	c.(1414-1416)GAC>TAC	p.D472Y	GSN_uc004bld.1_Missense_Mutation_p.D421Y|GSN_uc010mvq.1_Missense_Mutation_p.D432Y|GSN_uc010mvr.1_Missense_Mutation_p.D432Y|GSN_uc010mvu.1_Missense_Mutation_p.D421Y|GSN_uc010mvt.1_Missense_Mutation_p.D421Y|GSN_uc010mvs.1_Missense_Mutation_p.D421Y|GSN_uc004ble.1_Missense_Mutation_p.D421Y|GSN_uc010mvv.1_Missense_Mutation_p.D421Y|GSN_uc011lyh.1_Missense_Mutation_p.D438Y|GSN_uc011lyi.1_Missense_Mutation_p.D421Y|GSN_uc011lyj.1_Missense_Mutation_p.D445Y|GSN_uc004blg.1_Missense_Mutation_p.D203Y	NM_000177	NP_000168	P06396	GELS_HUMAN	gelsolin isoform a precursor	472	Actin-binding, Ca-sensitive (Potential).|Gelsolin-like 4.				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			breast(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	124083615	124083615	7105	9	G	T	T	37	37	GSN	T	1	1
DENND1A	57706	broad.mit.edu	37	9	126144461	126144461	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126144461G>A	uc004bnz.1	-	22	2513	c.2280C>T	c.(2278-2280)GGC>GGT	p.G760G	DENND1A_uc011lzl.1_Silent_p.G578G|DENND1A_uc004bny.1_Silent_p.G542G|DENND1A_uc011lzm.1_Silent_p.G771G|DENND1A_uc010mwh.1_Silent_p.G181G	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	760	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---	capture		Silent	SNP	126144461	126144461	4605	9	G	A	A	42	42	DENND1A	A	2	2
FAM129B	64855	broad.mit.edu	37	9	130287409	130287409	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130287409T>C	uc004brh.2	-	4	551	c.349A>G	c.(349-351)ATC>GTC	p.I117V	FAM129B_uc004bri.2_Missense_Mutation_p.I104V|FAM129B_uc004brj.3_Missense_Mutation_p.I117V	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	117	PH.						protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	130287409	130287409	5634	9	T	C	C	51	51	FAM129B	C	4	4
GLE1	2733	broad.mit.edu	37	9	131287581	131287581	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131287581G>C	uc004bvj.2	+	7	1122	c.1008G>C	c.(1006-1008)AAG>AAC	p.K336N	GLE1_uc004bvi.2_Missense_Mutation_p.K336N|GLE1_uc010myd.2_Missense_Mutation_p.K82N	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	336	Potential.				poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	131287581	131287581	6703	9	G	C	C	33	33	GLE1	C	3	3
NUP214	8021	broad.mit.edu	37	9	134022968	134022968	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134022968C>A	uc004cag.2	+	14	2148	c.2037C>A	c.(2035-2037)CCC>CCA	p.P679P	NUP214_uc004cah.2_Silent_p.P669P|NUP214_uc004cai.2_Silent_p.P109P|NUP214_uc004caf.1_Silent_p.P668P|NUP214_uc010mzf.2_Intron	NM_005085	NP_005076	P35658	NU214_HUMAN	nucleoporin 214kDa	679	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)				T	DEK|SET|ABL1	AML|T-ALL								---	---	---	---	capture		Silent	SNP	134022968	134022968	11167	9	C	A	A	22	22	NUP214	A	2	2
SETX	23064	broad.mit.edu	37	9	135202449	135202449	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135202449C>A	uc004cbk.2	-	10	4719	c.4536G>T	c.(4534-4536)ATG>ATT	p.M1512I	SETX_uc004cbj.2_Missense_Mutation_p.M1131I|SETX_uc010mzt.2_Missense_Mutation_p.M1131I	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	senataxin	1512					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			ovary(2)|skin(1)	3		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)														---	---	---	---	capture		Missense_Mutation	SNP	135202449	135202449	14630	9	C	A	A	21	21	SETX	A	2	2
TTF1	7270	broad.mit.edu	37	9	135273606	135273606	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135273606G>T	uc004cbl.2	-	4	1751	c.1699C>A	c.(1699-1701)CTG>ATG	p.L567M	TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Missense_Mutation_p.L52M	NM_007344	NP_031370	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase	567					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)														---	---	---	---	capture		Missense_Mutation	SNP	135273606	135273606	17273	9	G	T	T	34	34	TTF1	T	2	2
DDX31	64794	broad.mit.edu	37	9	135487571	135487571	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135487571G>T	uc004cbq.1	-	19	2364	c.2212C>A	c.(2212-2214)CTC>ATC	p.L738I	DDX31_uc010mzu.1_Missense_Mutation_p.L665I	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	738						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)														---	---	---	---	capture		Missense_Mutation	SNP	135487571	135487571	4527	9	G	T	T	35	35	DDX31	T	2	2
ADAMTSL2	9719	broad.mit.edu	37	9	136412282	136412282	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136412282G>T	uc011mdl.1	+	9	1443	c.886G>T	c.(886-888)GGA>TGA	p.G296*	ADAMTSL2_uc004cei.2_Nonsense_Mutation_p.G296*	NM_001145320	NP_001138792	Q86TH1	ATL2_HUMAN	ADAMTS-like 2 precursor	296					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)														---	---	---	---	capture		Nonsense_Mutation	SNP	136412282	136412282	276	9	G	T	T	39	39	ADAMTSL2	T	5	1
SFRS17A	8227	broad.mit.edu	37	X	1712720	1712720	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:1712720C>A	uc004cqa.2	+	2	561	c.365C>A	c.(364-366)CCC>CAC	p.P122H	SFRS17A_uc010ncx.1_Missense_Mutation_p.P122H|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	DNA segment on chromosome X and Y (unique) 155	122					B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)																---	---	---	---	capture		Missense_Mutation	SNP	1712720	1712720	14663	23	C	A	A	22	22	SFRS17A	A	2	2
MID1	4281	broad.mit.edu	37	X	10442765	10442765	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:10442765G>T	uc004cte.3	-	6	1230	c.1039C>A	c.(1039-1041)CAG>AAG	p.Q347K	MID1_uc004ctd.3_Missense_Mutation_p.Q58K|MID1_uc004ctg.3_Missense_Mutation_p.Q347K|MID1_uc004cth.3_Missense_Mutation_p.Q309K|MID1_uc004ctk.3_Missense_Mutation_p.Q347K|MID1_uc004cti.3_Missense_Mutation_p.Q347K|MID1_uc004ctj.3_Missense_Mutation_p.Q347K|MID1_uc011mie.1_RNA|MID1_uc004ctm.1_Missense_Mutation_p.Q398K|MID1_uc004ctn.1_Missense_Mutation_p.Q347K|MID1_uc004cto.1_Missense_Mutation_p.Q309K|MID1_uc010ndw.1_Missense_Mutation_p.Q58K|MID1_uc004cts.1_Missense_Mutation_p.Q114K|MID1_uc004csz.3_Missense_Mutation_p.Q19K|MID1_uc004cta.3_Missense_Mutation_p.Q103K|MID1_uc004ctb.3_Missense_Mutation_p.Q7K|MID1_uc004ctc.3_Missense_Mutation_p.Q114K|MID1_uc004ctl.1_Missense_Mutation_p.Q103K|MID1_uc004ctp.1_RNA|MID1_uc004ctq.1_Missense_Mutation_p.Q114K|MID1_uc004ctr.1_Missense_Mutation_p.Q114K|MID1_uc010ndu.1_Missense_Mutation_p.Q114K|MID1_uc010ndv.1_Missense_Mutation_p.Q58K	NM_033290	NP_150632	O15344	TRI18_HUMAN	midline 1	347	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	10442765	10442765	9966	23	G	T	T	47	47	MID1	T	2	2
TLR8	51311	broad.mit.edu	37	X	12937472	12937472	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12937472G>T	uc004cve.2	+	2	381	c.313G>T	c.(313-315)GGA>TGA	p.G105*	TLR8_uc004cvd.2_Nonsense_Mutation_p.G123*	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	105	Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7																		---	---	---	---	capture		Nonsense_Mutation	SNP	12937472	12937472	16487	23	G	T	T	39	39	TLR8	T	5	1
TMEM27	57393	broad.mit.edu	37	X	15657828	15657828	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:15657828C>A	uc004cxc.1	-	5	625	c.369G>T	c.(367-369)CTG>CTT	p.L123L		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27 precursor	123	Extracellular (Potential).				proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			ovary(1)	1	Hepatocellular(33;0.183)																	---	---	---	---	capture		Silent	SNP	15657828	15657828	16691	23	C	A	A	21	21	TMEM27	A	2	2
GPR64	10149	broad.mit.edu	37	X	19032013	19032013	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19032013C>A	uc004cyx.2	-	16	1054	c.890G>T	c.(889-891)GGG>GTG	p.G297V	GPR64_uc004cyy.2_Missense_Mutation_p.G294V|GPR64_uc004cyz.2_Missense_Mutation_p.G283V|GPR64_uc004czb.2_Missense_Mutation_p.G297V|GPR64_uc004czc.2_Missense_Mutation_p.G281V|GPR64_uc004czd.2_Missense_Mutation_p.G273V|GPR64_uc004cze.2_Missense_Mutation_p.G267V|GPR64_uc004czf.2_Missense_Mutation_p.G259V|GPR64_uc004cza.2_Missense_Mutation_p.G275V|GPR64_uc004cyw.2_Missense_Mutation_p.G281V|GPR64_uc010nfj.2_Missense_Mutation_p.G267V	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64 isoform 1	297	Extracellular (Potential).				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity				0	Hepatocellular(33;0.183)																	---	---	---	---	capture		Missense_Mutation	SNP	19032013	19032013	6980	23	C	A	A	22	22	GPR64	A	2	2
DCAF8L1	139425	broad.mit.edu	37	X	27998521	27998521	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:27998521C>A	uc004dbx.1	-	1	1046	c.931G>T	c.(931-933)GTG>TTG	p.V311L		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	311	WD 3.									ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	27998521	27998521	4448	23	C	A	A	17	17	DCAF8L1	A	2	2
FAM47B	170062	broad.mit.edu	37	X	34961693	34961693	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34961693G>A	uc004ddi.1	+	1	763	c.745G>A	c.(745-747)GTG>ATG	p.V249M		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	249	Pro-rich.									ovary(3)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	34961693	34961693	5791	23	G	A	A	40	40	FAM47B	A	1	1
AKAP4	8852	broad.mit.edu	37	X	49957417	49957417	+	Silent	SNP	G	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49957417G>A	uc004dow.1	-	5	2071	c.1947C>T	c.(1945-1947)TGC>TGT	p.C649C	AKAP4_uc004dov.1_Silent_p.C266C|AKAP4_uc010njp.1_Silent_p.C471C|AKAP4_uc004dou.1_Silent_p.C640C	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN	A-kinase anchor protein 4 isoform 1	649					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8	Ovarian(276;0.236)																	---	---	---	---	capture		Silent	SNP	49957417	49957417	456	23	G	A	A	38	38	AKAP4	A	1	1
MAGEE1	57692	broad.mit.edu	37	X	75649158	75649158	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:75649158G>T	uc004ecm.1	+	1	1042	c.835G>T	c.(835-837)GGA>TGA	p.G279*		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	279	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|ovary(1)|pancreas(1)|skin(1)	6																		---	---	---	---	capture		Nonsense_Mutation	SNP	75649158	75649158	9568	23	G	T	T	39	39	MAGEE1	T	5	1
POU3F4	5456	broad.mit.edu	37	X	82763671	82763671	+	Silent	SNP	C	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:82763671C>T	uc004eeg.2	+	1	403	c.339C>T	c.(337-339)GCC>GCT	p.A113A		NM_000307	NP_000298	P49335	PO3F4_HUMAN	POU domain, class 3, transcription factor 4	113					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	82763671	82763671	12707	23	C	T	T	24	24	POU3F4	T	2	2
GPRASP1	9737	broad.mit.edu	37	X	101908897	101908897	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101908897G>T	uc004ejj.3	+	5	857	c.56G>T	c.(55-57)GGG>GTG	p.G19V	GPRASP1_uc004eji.3_Missense_Mutation_p.G19V|GPRASP1_uc010nod.2_Missense_Mutation_p.G19V	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	19						cytoplasm	protein binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	101908897	101908897	6998	23	G	T	T	43	43	GPRASP1	T	2	2
NXF3	56000	broad.mit.edu	37	X	102335086	102335086	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:102335086G>T	uc004eju.2	-	11	1057	c.986C>A	c.(985-987)CCA>CAA	p.P329Q	NXF3_uc010noi.1_Missense_Mutation_p.P179Q	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	329						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			ovary(1)|lung(1)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	102335086	102335086	11190	23	G	T	T	47	47	NXF3	T	2	2
LONRF3	79836	broad.mit.edu	37	X	118116786	118116786	+	Silent	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118116786A>T	uc004eqw.2	+	3	970	c.939A>T	c.(937-939)GCA>GCT	p.A313A	LONRF3_uc004eqx.2_Intron|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Silent_p.A5A	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger	313	TPR 4.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Silent	SNP	118116786	118116786	9268	23	A	T	T	6	6	LONRF3	T	4	4
AKAP14	158798	broad.mit.edu	37	X	119053882	119053882	+	Silent	SNP	C	A	A			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119053882C>A	uc004ese.2	+	6	588	c.450C>A	c.(448-450)CCC>CCA	p.P150P	AKAP14_uc004esf.2_Silent_p.P90P	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14 isoform a	150						cytoplasm					0																		---	---	---	---	capture		Silent	SNP	119053882	119053882	453	23	C	A	A	21	21	AKAP14	A	2	2
ODZ1	10178	broad.mit.edu	37	X	123515008	123515008	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123515008G>T	uc004euj.2	-	31	7620	c.7556C>A	c.(7555-7557)CCT>CAT	p.P2519H	ODZ1_uc011muj.1_Missense_Mutation_p.P2525H|ODZ1_uc010nqy.2_Missense_Mutation_p.P2526H	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	2519	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23																		---	---	---	---	capture		Missense_Mutation	SNP	123515008	123515008	11239	23	G	T	T	35	35	ODZ1	T	2	2
DCAF12L1	139170	broad.mit.edu	37	X	125685298	125685298	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125685298A>T	uc004eul.2	-	1	1545	c.1294T>A	c.(1294-1296)TAC>AAC	p.Y432N		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	432										skin(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	125685298	125685298	4435	23	A	T	T	15	15	DCAF12L1	T	4	4
HTATSF1	27336	broad.mit.edu	37	X	135592989	135592989	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135592989G>T	uc004ezw.2	+	10	1507	c.1085G>T	c.(1084-1086)AGG>ATG	p.R362M	HTATSF1_uc004ezx.2_Missense_Mutation_p.R362M	NM_001163280	NP_001156752	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	362					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	135592989	135592989	7733	23	G	T	T	35	35	HTATSF1	T	2	2
DUSP9	1852	broad.mit.edu	37	X	152915482	152915482	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152915482G>T	uc004fhx.3	+	4	1081	c.877G>T	c.(877-879)GGG>TGG	p.G293W	DUSP9_uc004fhy.3_Missense_Mutation_p.G293W	NM_001395	NP_001386	Q99956	DUS9_HUMAN	dual specificity phosphatase 9	293	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			ovary(2)	2	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	152915482	152915482	5017	23	G	T	T	43	43	DUSP9	T	2	2
F8	2157	broad.mit.edu	37	X	154182254	154182254	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154182254G>T	uc004fmt.2	-	12	1987	c.1816C>A	c.(1816-1818)CTC>ATC	p.L606I		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	606	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---	capture		Missense_Mutation	SNP	154182254	154182254	5544	23	G	T	T	35	35	F8	T	2	2
IL9R	3581	broad.mit.edu	37	X	155232571	155232571	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:155232571G>T	uc004fnv.1	+	2	208	c.29G>T	c.(28-30)GGC>GTC	p.G10V	IL9R_uc010nvn.2_5'UTR|IL9R_uc004fnu.1_Missense_Mutation_p.G57V	NM_002186	NP_002177	Q01113	IL9R_HUMAN	interleukin 9 receptor precursor	10					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---	capture		Missense_Mutation	SNP	155232571	155232571	8009	23	G	T	T	42	42	IL9R	T	2	2
PCDH11Y	83259	broad.mit.edu	37	Y	4924872	4924872	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3416-01	TCGA-18-3416-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:4924872G>T	uc004fqo.2	+	1	742	c.8G>T	c.(7-9)AGG>ATG	p.R3M	PCDH11Y_uc010nwg.1_Intron|PCDH11Y_uc004fql.1_Intron|PCDH11Y_uc004fqm.1_Intron|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R3M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	3					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	4924872	4924872	11929	24	G	T	T	35	35	PCDH11Y	T	2	2
