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	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	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	DrugBank	i_ACHILLES_Top_Genes	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CCLE_SEQ_overlapping_mutations	i_CCLE_SEQ_total_mutations_in_gene	MUTSIG_Significant_Genes	OREGANNO_ID	OREGANNO_Values	i_tumor_f	i_init_t_lod	i_t_lod_fstar	i_t_alt_count	i_t_ref_count	i_normal_best_gt	i_failure_reasons	i_judgement	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	dataset	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
SLC25A28	81894	broad.mit.edu	36	10	101363460	101363460	+	Missense_Mutation	SNP	T	A	A			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:101363460T>A	uc001kpx.2	-	c.503A>T	c.(502-504)AAT>ATT	p.N168I	SLC25A28_uc001kpy.2_5'UTR|SLC25A28_uc009xwk.1_Missense_Mutation_p.N168I	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	solute carrier family 25, member 28	168	Solcar 2.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Colorectal(252;0.234)												0.25	6.655799	7.810194	5	15	TT		KEEP	---	---	---	---	capture		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)	Missense_Mutation	SNP	101363460	101363460	14988	10	T	A	A	52	52	SLC25A28	A	4	4
FAM13C	220965	broad.mit.edu	36	10	60692295	60692295	+	Missense_Mutation	SNP	G	C	C			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:60692295G>C	uc001jkn.1	-	c.1141C>G	c.(1141-1143)CCG>GCG	p.P381A	FAM13C_uc001jko.1_Intron|FAM13C_uc001jkp.2_Missense_Mutation_p.P298A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	hypothetical protein LOC220965 isoform 1	381										ovary(1)	1														0.68	168.29814	170.441771	51	24	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60692295	60692295	5651	10	G	C	C	43	43	FAM13C	C	3	3
RNH1	6050	broad.mit.edu	36	11	484709	484709	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:484709G>A	uc001lpk.1	-	c.1368C>T	c.(1366-1368)TCC>TCT	p.S456S	RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc009ybw.1_Non-coding_Transcript|RNH1_uc001lpp.1_Silent_p.S456S|RNH1_uc001lpt.1_Silent_p.S213S|RNH1_uc001lpq.1_Silent_p.S456S|RNH1_uc001lpr.1_Silent_p.S456S|RNH1_uc001lps.1_Silent_p.S456S	NM_203389	NP_976323	P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor	456					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity				0		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)												0.44382	244.188155	244.679392	79	99	GG		KEEP	---	---	---	---	capture		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Silent	SNP	484709	484709	13983	11	G	A	A	43	43	RNH1	A	2	2
OR5AK2	390181	broad.mit.edu	36	11	56513143	56513143	+	Missense_Mutation	SNP	A	G	G			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56513143A>G	uc001njk.1	+	c.179A>G	c.(178-180)TAC>TGC	p.Y60C		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3														0.393064	231.373968	233.102431	68	105	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56513143	56513143	11552	11	A	G	G	14	14	OR5AK2	G	4	4
TMEM151A	256472	broad.mit.edu	36	11	65818745	65818745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:65818745G>A	uc001ohl.1	+	c.452G>A	c.(451-453)TGG>TAG	p.W151*		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	151						integral to membrane				central_nervous_system(1)	1														0.428571	18.947953	19.010229	6	8	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	65818745	65818745	16602	11	G	A	A	47	47	TMEM151A	A	5	2
PC	5091	broad.mit.edu	36	11	66374853	66374853	+	Missense_Mutation	SNP	C	A	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:66374853C>A	uc001ojn.1	-	c.2341G>T	c.(2341-2343)GCA>TCA	p.A781S	PC_uc001ojo.1_Missense_Mutation_p.A781S|PC_uc001ojp.1_Missense_Mutation_p.A781S|PC_uc001ojm.1_5'Flank	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	781	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)			Biotin(DB00121)|Pyruvic acid(DB00119)									0.490566	72.623221	72.627671	26	27	CC		KEEP	---	---	---	---	capture		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Missense_Mutation	SNP	66374853	66374853	11917	11	C	A	A	26	26	PC	A	3	3
SLC38A4	55089	broad.mit.edu	36	12	45449474	45449474	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:45449474C>T	uc001rpi.1	-	c.1304G>A	c.(1303-1305)CGT>CAT	p.R435H	SLC38A4_uc001rpj.1_Missense_Mutation_p.R435H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	435	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.192)|Renal(347;0.236)													0.433962	211.655674	212.259228	69	90	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45449474	45449474	15103	12	C	T	T	19	19	SLC38A4	T	1	1
IPO5	3843	broad.mit.edu	36	13	97450836	97450836	+	Silent	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97450836C>T	uc001vne.1	+	c.1098C>T	c.(1096-1098)TGC>TGT	p.C366C	IPO5_uc001vnf.1_Silent_p.C348C|IPO5_uc001vng.1_5'Flank	NM_002271	NP_002262	O00410	IPO5_HUMAN	importin 5	348	Ran-GTP binding (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			ovary(1)|lung(1)	2														0.132075	7.488142	14.46216	7	46	CC		KEEP	---	---	---	---	capture			Silent	SNP	97450836	97450836	8097	13	C	T	T	27	27	IPO5	T	1	1
FARP1	10160	broad.mit.edu	36	13	97859723	97859723	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:97859723G>A	uc001vnh.1	+	c.1545G>A	c.(1543-1545)CCG>CCA	p.P515P	FARP1_uc001vnj.1_Silent_p.P515P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF, and pleckstrin domain protein 1	515					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)													0.403509	62.633011	63.090229	23	34	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(86;0.233)		Silent	SNP	97859723	97859723	5912	13	G	A	A	38	38	FARP1	A	1	1
JUB	84962	broad.mit.edu	36	14	22514137	22514137	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22514137C>T	uc001whz.1	-	c.1256G>A	c.(1255-1257)GGG>GAG	p.G419E	JUB_uc001why.1_Missense_Mutation_p.G2E	NM_032876	NP_116265	Q96IF1	JUB_HUMAN	ajuba isoform 1	419	LIM zinc-binding 2.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding				0	all_cancers(95;4.6e-05)					Esophageal Squamous(134;328 1721 9795 37986 41605)								0.810811	104.972228	108.316353	30	7	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0122)	Missense_Mutation	SNP	22514137	22514137	8272	14	C	T	T	22	22	JUB	T	2	2
KCNH5	27133	broad.mit.edu	36	14	62386172	62386172	+	Missense_Mutation	SNP	A	T	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:62386172A>T	uc001xfx.1	-	c.1521T>A	c.(1519-1521)GAT>GAA	p.D507E	KCNH5_uc001xfy.1_Missense_Mutation_p.D507E|KCNH5_uc001xfz.1_Missense_Mutation_p.D449E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	507	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|central_nervous_system(1)	5														0.633028	231.201476	232.896971	69	40	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	Missense_Mutation	SNP	62386172	62386172	8340	14	A	T	T	4	4	KCNH5	T	4	4
ADAMTS7	11173	broad.mit.edu	36	15	76846904	76846904	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:76846904C>T	uc002bej.2	-	c.2731G>A	c.(2731-2733)GTG>ATG	p.V911M		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	911	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0														0.5	25.000461	25.000461	8	8	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	76846904	76846904	272	15	C	T	T	19	19	ADAMTS7	T	1	1
ADAMTS17	170691	broad.mit.edu	36	15	98409307	98409307	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:98409307G>A	uc002bvv.1	-	c.2448C>T	c.(2446-2448)TGC>TGT	p.C816C		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	816	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)													0.420455	324.983155	326.438801	111	153	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	Silent	SNP	98409307	98409307	263	15	G	A	A	38	38	ADAMTS17	A	1	1
YWHAE	7531	broad.mit.edu	36	17	1250145	1250145	+	Nonsense_Mutation	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:1250145G>A	uc002fsj.1	-	c.10C>T	c.(10-12)CGA>TGA	p.R4*	YWHAE_uc002fsk.1_5'UTR	NM_006761	NP_006752	P62258	1433E_HUMAN	tyrosine 3/tryptophan 5 -monooxygenase	4					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			ovary(1)	1														0.357143	109.375214	111.385446	40	72	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	Nonsense_Mutation	SNP	1250145	1250145	18085	17	G	A	A	37	37	YWHAE	A	5	1
MFAP4	4239	broad.mit.edu	36	17	19228504	19228504	+	Missense_Mutation	SNP	C	G	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:19228504C>G	uc002gvs.1	-	c.704G>C	c.(703-705)AGC>ACC	p.S235T	MFAP4_uc002gvr.1_Non-coding_Transcript|MFAP4_uc002gvt.1_Missense_Mutation_p.S211T	NM_002404	NP_002395	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	211	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding				0	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)													0.214286	9.224188	11.348315	6	22	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	19228504	19228504	9907	17	C	G	G	28	28	MFAP4	G	3	3
CSH2	1443	broad.mit.edu	36	17	59304355	59304355	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59304355G>A	uc002jch.1	-	c.87C>T	c.(85-87)ACC>ACT	p.T29T	CSH2_uc002jcg.1_Silent_p.T29T|CSH2_uc002jci.1_Silent_p.T29T|GH2_uc002jcj.1_Intron|CSH2_uc002jck.1_Silent_p.T29T	NM_020991	NP_066271	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2 isoform 1	29					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding				0														0.21519	77.074024	88.899128	34	124	GG		KEEP	---	---	---	---	capture			Silent	SNP	59304355	59304355	4082	17	G	A	A	39	39	CSH2	A	1	1
BPTF	2186	broad.mit.edu	36	17	63318560	63318560	+	Missense_Mutation	SNP	A	T	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:63318560A>T	uc002jgf.1	+	c.2003A>T	c.(2002-2004)CAG>CTG	p.Q668L	BPTF_uc002jge.1_Missense_Mutation_p.Q794L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	794					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene-specific transcription|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|transcription regulator activity|zinc ion binding			ovary(2)	2	all_cancers(12;6e-11)													0.527273	89.444016	89.478138	29	26	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		Missense_Mutation	SNP	63318560	63318560	1523	17	A	T	T	7	7	BPTF	T	4	4
ABCA6	23460	broad.mit.edu	36	17	64588842	64588842	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:64588842G>A	uc002jhw.1	-	c.4656C>T	c.(4654-4656)GAC>GAT	p.D1552D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	1552					transport	integral to membrane	ATP binding|ATPase activity			large_intestine(2)|ovary(2)	4	Breast(10;5.65e-12)													0.420091	265.954447	267.175854	92	127	GG		KEEP	---	---	---	---	capture			Silent	SNP	64588842	64588842	37	17	G	A	A	40	40	ABCA6	A	1	1
YBX2	51087	broad.mit.edu	36	17	7135182	7135182	+	Missense_Mutation	SNP	A	G	G			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7135182A>G	uc002gfq.2	-	c.413T>C	c.(412-414)GTT>GCT	p.V138A		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	138	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding				0														0.451613	196.388244	196.640605	56	68	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7135182	7135182	18053	17	A	G	G	2	2	YBX2	G	4	4
TP53	7157	broad.mit.edu	36	17	7518334	7518334	+	Splice_Site_SNP	SNP	C	G	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518334C>G	uc002gim.2	-	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_SNP_p.V225_splice|TP53_uc002gih.1_Splice_Site_SNP_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_SNP_p.V93_splice|TP53_uc010cng.1_Splice_Site_SNP_p.V93_splice|TP53_uc002gii.1_Splice_Site_SNP_p.V93_splice|TP53_uc010cnh.1_Splice_Site_SNP_p.V225_splice|TP53_uc010cni.1_Splice_Site_SNP_p.V225_splice|TP53_uc002gij.2_Splice_Site_SNP_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron	NM_001126112	NP_001119584			tumor protein p53 isoform a						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 gene-specific transcription from RNA polymerase II promoter|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of gene-specific transcription from RNA polymerase II promoter|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|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	chromatin|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|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|promoter binding|promoter binding|protease binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin protein ligase binding|zinc ion binding	p.?(12)|p.0?(6)|p.V225fs*24(1)|p.E224_V225insXX(1)		large_intestine(4614)|breast(2344)|upper_aerodigestive_tract(2150)|lung(1958)|ovary(1559)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1212)|stomach(1127)|urinary_tract(1113)|central_nervous_system(1072)|liver(805)|skin(693)|pancreas(370)|biliary_tract(247)|soft_tissue(209)|prostate(192)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(41)|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)	21904		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)				Pancreas(47;798 1329 9957 10801)		111	(FADU-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.576923	159.687459	160.089836	45	33	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Splice_Site_SNP	SNP	7518334	7518334	16923	17	C	G	G	24	24	TP53	G	5	3
WDR16	146845	broad.mit.edu	36	17	9487127	9487127	+	Missense_Mutation	SNP	G	T	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:9487127G>T	uc002gly.1	+	c.1750G>T	c.(1750-1752)GTG>TTG	p.V584L	WDR16_uc002glz.1_Missense_Mutation_p.V516L|WDR16_uc010coc.1_Missense_Mutation_p.V594L|USP43_uc002gma.2_5'Flank|USP43_uc010cod.1_5'Flank	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN	WD40-repeat protein upregulated in HCC isoform	584						cytoplasm|intracellular membrane-bounded organelle	protein binding			ovary(1)	1														0.3125	79.898333	82.912926	30	66	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9487127	9487127	17849	17	G	T	T	44	44	WDR16	T	3	3
SERPINB3	6317	broad.mit.edu	36	18	59474082	59474082	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59474082C>T	uc002lji.1	-	c.962G>A	c.(961-963)CGC>CAC	p.R321H	SERPINB4_uc002ljg.1_Intron|SERPINB4_uc002ljh.1_Intron|SERPINB3_uc010dqa.1_Missense_Mutation_p.R269H	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	321					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2														0.578059	425.298154	426.55651	137	100	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59474082	59474082	14590	18	C	T	T	27	27	SERPINB3	T	1	1
TMEM205	374882	broad.mit.edu	36	19	11314778	11314778	+	Missense_Mutation	SNP	T	G	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:11314778T>G	uc002mqz.1	-	c.283A>C	c.(283-285)AGC>CGC	p.S95R	TMEM205_uc002mra.1_Missense_Mutation_p.S95R|TMEM205_uc002mrb.1_Missense_Mutation_p.S95R|TMEM205_uc002mrc.1_Missense_Mutation_p.S95R	NM_198536	NP_940938	Q6UW68	TM205_HUMAN	transmembrane protein 205	95	Helical; (Potential).					integral to membrane					0														0.378049	99.71899	100.783733	31	51	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	11314778	11314778	16665	19	T	G	G	54	54	TMEM205	G	4	4
MLL4	9757	broad.mit.edu	36	19	40902568	40902568	+	Missense_Mutation	SNP	C	A	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:40902568C>A	uc010eei.1	+	c.479C>A	c.(478-480)CCC>CAC	p.P160H		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	160					chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)													0.392857	272.810242	275.327929	99	153	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(66;0.0515)		Missense_Mutation	SNP	40902568	40902568	10013	19	C	A	A	22	22	MLL4	A	3	3
MEGF8	1954	broad.mit.edu	36	19	47566238	47566238	+	Missense_Mutation	SNP	A	C	C			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:47566238A>C	uc002otl.2	+	c.6691A>C	c.(6691-6693)ACC>CCC	p.T2231P	MEGF8_uc002otm.2_Missense_Mutation_p.T1839P|MEGF8_uc002otn.2_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2298	Extracellular (Potential).|Laminin EGF-like 3.					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)												0.380952	8.656714	8.96099	8	13	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47566238	47566238	9852	19	A	C	C	10	10	MEGF8	C	4	4
ZIM3	114026	broad.mit.edu	36	19	62338402	62338402	+	Missense_Mutation	SNP	A	T	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62338402A>T	uc002qnz.1	-	c.1115T>A	c.(1114-1116)TTT>TAT	p.F372Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	372	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)												0.647059	306.156001	309.070793	99	54	AA		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62338402	62338402	18276	19	A	T	T	1	1	ZIM3	T	4	4
VAV1	7409	broad.mit.edu	36	19	6779653	6779653	+	Silent	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6779653C>T	uc002mfu.1	+	c.1113C>T	c.(1111-1113)AAC>AAT	p.N371N	VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	NM_005428	NP_005419	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	371	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|central_nervous_system(2)|kidney(2)|skin(1)	10										494				0.390805	379.305713	382.940295	136	212	CC		KEEP	---	---	---	---	capture			Silent	SNP	6779653	6779653	17696	19	C	T	T	19	19	VAV1	T	1	1
PRAMEF12	390999	broad.mit.edu	36	1	12759850	12759850	+	Missense_Mutation	SNP	G	C	C			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12759850G>C	uc001aui.1	+	c.973G>C	c.(973-975)GAC>CAC	p.D325H		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	PRAME family member 12	325	LRR 1.									ovary(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)												0.443439	345.327228	345.942695	98	123	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	12759850	12759850	12864	1	G	C	C	33	33	PRAMEF12	C	3	3
FLG	2312	broad.mit.edu	36	1	150549158	150549158	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150549158G>A	uc001ezu.1	-	c.4828C>T	c.(4828-4830)CGG>TGG	p.R1610W		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.492795	519.154568	519.168988	171	176	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150549158	150549158	6160	1	G	A	A	38	38	FLG	A	1	1
PLA2G2A	5320	broad.mit.edu	36	1	20177511	20177511	+	Missense_Mutation	SNP	C	G	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:20177511C>G	uc001bcu.1	-	c.134G>C	c.(133-135)GGC>GCC	p.G45A	PLA2G2A_uc001bcv.1_Missense_Mutation_p.G45A	NM_000300	NP_000291	P14555	PA2GA_HUMAN	phospholipase A2, group IIA	45					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding				0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)												0.454545	8.079344	8.109089	5	6	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	20177511	20177511	12421	1	C	G	G	26	26	PLA2G2A	G	3	3
RYR2	6262	broad.mit.edu	36	1	235847233	235847233	+	Missense_Mutation	SNP	T	C	C			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235847233T>C	uc001hyl.1	+	c.5740T>C	c.(5740-5742)TGT>CGT	p.C1914R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1914	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.565217	43.97624	44.061214	13	10	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235847233	235847233	14249	1	T	C	C	55	55	RYR2	C	4	4
FHL3	2275	broad.mit.edu	36	1	38237233	38237233	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:38237233C>T	uc001ccj.1	-	c.331G>A	c.(331-333)GGG>AGG	p.G111R	FHL3_uc001cck.1_Missense_Mutation_p.G111R|FHL3_uc001ccl.1_Missense_Mutation_p.G111R|FHL3_uc001ccm.1_Missense_Mutation_p.G3R|FHL3_uc009vvl.1_Missense_Mutation_p.G111R	NM_004468	NP_004459	Q13643	FHL3_HUMAN	four and a half LIM domains 3	111	LIM zinc-binding 2.				muscle organ development		zinc ion binding				0	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)												0.277228	81.155969	85.666686	28	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	38237233	38237233	6118	1	C	T	T	21	21	FHL3	T	2	2
CDCP2	200008	broad.mit.edu	36	1	54378321	54378321	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:54378321G>A	uc001cwv.1	-	c.810C>T	c.(808-810)AGC>AGT	p.S270S		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	270	CUB 3.					extracellular region				ovary(1)	1														0.382716	87.815039	88.788491	31	50	GG		KEEP	---	---	---	---	capture			Silent	SNP	54378321	54378321	3223	1	G	A	A	42	42	CDCP2	A	2	2
RPF1	80135	broad.mit.edu	36	1	84734589	84734589	+	Missense_Mutation	SNP	T	C	C			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:84734589T>C	uc001djv.2	+	c.956T>C	c.(955-957)CTT>CCT	p.L319P		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	RNA processing factor 1	319	RNA-binding (By similarity).|Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding				0														0.439024	192.938416	193.33622	54	69	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	84734589	84734589	14025	1	T	C	C	56	56	RPF1	C	4	4
UBASH3A	53347	broad.mit.edu	36	21	42719946	42719946	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42719946G>A	uc002zbe.1	+	c.1118G>A	c.(1117-1119)GGG>GAG	p.G373E	UBASH3A_uc002zbf.1_Missense_Mutation_p.G335E|UBASH3A_uc010gpc.1_Non-coding_Transcript|UBASH3A_uc010gpd.1_Non-coding_Transcript|UBASH3A_uc010gpe.1_Missense_Mutation_p.G335E	NM_018961	NP_061834	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing,	373						cytosol|nucleus				ovary(3)	3														0.329843	185.367837	190.265602	63	128	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	42719946	42719946	17396	21	G	A	A	43	43	UBASH3A	A	2	2
CBX6	23466	broad.mit.edu	36	22	37597707	37597707	+	Missense_Mutation	SNP	A	C	C			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37597707A>C	uc003awl.1	-	c.115T>G	c.(115-117)TAC>GAC	p.Y39D	CBX6_uc003awm.1_Missense_Mutation_p.Y39D	NM_014292	NP_055107	O95503	CBX6_HUMAN	chromobox homolog 6	39	Chromo.				chromatin assembly or disassembly|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|nucleus	chromatin binding				0	Melanoma(58;0.04)													0.333333	6.920167	7.142492	3	6	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37597707	37597707	2841	22	A	C	C	14	14	CBX6	C	4	4
THSD7B	80731	broad.mit.edu	36	2	138137589	138137589	+	Missense_Mutation	SNP	G	T	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:138137589G>T	uc002tva.1	+	c.4538G>T	c.(4537-4539)GGA>GTA	p.G1513V		NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7														0.470588	23.797907	23.810775	8	9	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(221;0.19)	Missense_Mutation	SNP	138137589	138137589	16408	2	G	T	T	41	41	THSD7B	T	3	3
SCN3A	6328	broad.mit.edu	36	2	165704276	165704276	+	Missense_Mutation	SNP	T	C	C			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:165704276T>C	uc002ucx.1	-	c.2108A>G	c.(2107-2109)CAA>CGA	p.Q703R	SCN3A_uc002ucy.1_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.1_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	703						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|central_nervous_system(1)	8					Lamotrigine(DB00555)									0.409091	126.937801	127.735324	45	65	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	165704276	165704276	14400	2	T	C	C	63	63	SCN3A	C	4	4
DNAJC10	54431	broad.mit.edu	36	2	183305491	183305491	+	Nonsense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:183305491C>T	uc002uow.1	+	c.826C>T	c.(826-828)CGA>TGA	p.R276*	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	276					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)	3						Pancreas(56;860 1183 25669 35822 48585)								0.402985	245.636228	247.289965	81	120	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		Nonsense_Mutation	SNP	183305491	183305491	4812	2	C	T	T	19	19	DNAJC10	T	5	1
MOBKL3	25843	broad.mit.edu	36	2	198123342	198123342	+	Missense_Mutation	SNP	T	C	C			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198123342T>C	uc002uun.2	+	c.533T>C	c.(532-534)TTT>TCT	p.F178S	MOBKL3_uc002uum.2_Missense_Mutation_p.F146S|MOBKL3_uc010fsn.1_Missense_Mutation_p.F157S|MOBKL3_uc010fso.1_Missense_Mutation_p.F79S	NM_015387	NP_955776	Q9Y3A3	MOBL3_HUMAN	Mps One Binder kinase activator-like 3 isoform	178					transport	Golgi cisterna membrane|perinuclear region of cytoplasm	metal ion binding|protein binding				0														0.434211	115.97315	116.258021	33	43	TT		KEEP	---	---	---	---	capture	Epithelial(96;0.225)		Missense_Mutation	SNP	198123342	198123342	10078	2	T	C	C	64	64	MOBKL3	C	4	4
PLCL1	5334	broad.mit.edu	36	2	198658577	198658577	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198658577G>A	uc010fsp.1	+	c.2091G>A	c.(2089-2091)CCG>CCA	p.P697P	PLCL1_uc002uuv.2_Silent_p.P618P|PLCL1_uc002uuw.2_Silent_p.P599P	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	phospholipase C-like 1 isoform a	697	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.409722	353.495723	355.546225	118	170	GG		KEEP	---	---	---	---	capture			Silent	SNP	198658577	198658577	12465	2	G	A	A	40	40	PLCL1	A	1	1
ZDBF2	57683	broad.mit.edu	36	2	206883061	206883061	+	Missense_Mutation	SNP	T	G	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr2:206883061T>G	uc002vbp.2	+	c.5564T>G	c.(5563-5565)TTC>TGC	p.F1855C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1855							nucleic acid binding|zinc ion binding			ovary(3)	3														0.535211	137.156631	137.23331	38	33	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	206883061	206883061	18187	2	T	G	G	62	62	ZDBF2	G	4	4
TMEM214	54867	broad.mit.edu	36	2	27117120	27117120	+	Missense_Mutation	SNP	A	T	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27117120A>T	uc002ria.2	+	c.1981A>T	c.(1981-1983)AGT>TGT	p.S661C	TMEM214_uc002rib.2_Missense_Mutation_p.S616C|TMEM214_uc010eyp.1_Non-coding_Transcript	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	transmembrane protein 214 isoform 1	661						integral to membrane	protein binding				0														0.333333	116.0148	118.817871	38	76	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27117120	27117120	16673	2	A	T	T	7	7	TMEM214	T	4	4
KIAA1524	57650	broad.mit.edu	36	3	109784542	109784542	+	Missense_Mutation	SNP	C	G	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:109784542C>G	uc003dxb.2	-	c.329G>C	c.(328-330)AGC>ACC	p.S110T	KIAA1524_uc003dxc.1_5'UTR|KIAA1524_uc010hpw.1_5'UTR	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	p90 autoantigen	110						cytoplasm|integral to membrane	protein binding			ovary(2)|central_nervous_system(1)	3														0.333333	12.543158	13.332125	10	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	109784542	109784542	8548	3	C	G	G	28	28	KIAA1524	G	3	3
BOC	91653	broad.mit.edu	36	3	114476185	114476185	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114476185C>T	uc003dzz.1	+	c.1508C>T	c.(1507-1509)GCG>GTG	p.A503V	BOC_uc003dzx.1_Missense_Mutation_p.A503V|BOC_uc003dzy.1_Missense_Mutation_p.A503V|BOC_uc003eab.1_Missense_Mutation_p.A204V	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO	503	Fibronectin type-III 1.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6														0.358209	69.691612	70.87331	24	43	CC		KEEP	---	---	---	---	capture	Epithelial(53;0.227)		Missense_Mutation	SNP	114476185	114476185	1506	3	C	T	T	27	27	BOC	T	1	1
CASR	846	broad.mit.edu	36	3	123463887	123463887	+	Missense_Mutation	SNP	C	A	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:123463887C>A	uc003eew.2	+	c.1315C>A	c.(1315-1317)CCT>ACT	p.P439T	CASR_uc003eev.2_Missense_Mutation_p.P439T	NM_000388	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	439	Extracellular (Potential).				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)	4					Cinacalcet(DB01012)									0.418605	221.600365	222.586756	72	100	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.226)	Missense_Mutation	SNP	123463887	123463887	2801	3	C	A	A	18	18	CASR	A	3	3
FBLN2	2199	broad.mit.edu	36	3	13654179	13654179	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:13654179G>A	uc003bya.1	+	c.3455G>A	c.(3454-3456)CGC>CAC	p.R1152H	FBLN2_uc003byb.1_Missense_Mutation_p.R1105H	NM_001004019	NP_001004019	P98095	FBLN2_HUMAN	fibulin 2 isoform a precursor	1105	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(1)	1														0.5	59.070744	59.070744	21	21	GG		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		Missense_Mutation	SNP	13654179	13654179	5935	3	G	A	A	38	38	FBLN2	A	1	1
FETUB	26998	broad.mit.edu	36	3	187845325	187845325	+	Silent	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:187845325C>T	uc010hyq.1	+	c.516C>T	c.(514-516)ACC>ACT	p.T172T	FETUB_uc003fqn.1_Silent_p.T172T|FETUB_uc003fqo.1_Silent_p.T67T|FETUB_uc010hyr.1_Silent_p.T135T|FETUB_uc010hys.1_Silent_p.T24T|FETUB_uc003fqp.2_Silent_p.T107T	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	fetuin B	172	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			ovary(1)|lung(1)	2	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)													0.22619	140.812161	158.11192	57	195	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	Silent	SNP	187845325	187845325	6058	3	C	T	T	23	23	FETUB	T	1	1
NCAPG	64151	broad.mit.edu	36	4	17428782	17428782	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:17428782C>T	uc003gpp.1	+	c.1091C>T	c.(1090-1092)CCT>CTT	p.P364L		NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	364					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1														0.169279	121.340327	154.371221	54	265	CC		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(129;0.18)	Missense_Mutation	SNP	17428782	17428782	10606	4	C	T	T	24	24	NCAPG	T	2	2
PCDHGA3	56112	broad.mit.edu	36	5	140704486	140704486	+	Missense_Mutation	SNP	T	G	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140704486T>G	uc003ljm.1	+	c.702T>G	c.(700-702)GAT>GAG	p.D234E	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc003ljl.1_Missense_Mutation_p.D234E	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	234	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1														0.450549	146.072014	146.264681	41	50	TT		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	140704486	140704486	11975	5	T	G	G	51	51	PCDHGA3	G	4	4
HMP19	51617	broad.mit.edu	36	5	173467064	173467064	+	Missense_Mutation	SNP	G	C	C			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:173467064G>C	uc003mcx.1	+	c.466G>C	c.(466-468)GCA>CCA	p.A156P		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	HMP19 protein	156	Lumenal (Potential).				dopamine receptor signaling pathway	cytoplasmic vesicle membrane|Golgi cisterna membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)												0.266667	7.411613	8.138584	4	11	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Missense_Mutation	SNP	173467064	173467064	7537	5	G	C	C	34	34	HMP19	C	3	3
RNF130	55819	broad.mit.edu	36	5	179323114	179323114	+	Missense_Mutation	SNP	T	G	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:179323114T>G	uc003mll.1	-	c.1207A>C	c.(1207-1209)ATG>CTG	p.M403L	RNF130_uc003mlm.1_Intron	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	ring finger protein 130	403	Cytoplasmic (Potential).				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			lung(2)|ovary(1)	3	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)				GBM(24;432 554 38471 39699 51728)				168				0.5	101.327724	101.327724	27	27	TT		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	179323114	179323114	13915	5	T	G	G	51	51	RNF130	G	4	4
TRIM7	81786	broad.mit.edu	36	5	180557800	180557800	+	Missense_Mutation	SNP	T	A	A			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:180557800T>A	uc003mmz.1	-	c.1013A>T	c.(1012-1014)AAA>ATA	p.K338I	TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	tripartite motif-containing 7 isoform 1	338	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			ovary(1)|skin(1)	2	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)				Esophageal Squamous(128;2258 2308 35507 48647)								0.142857	7.150413	11.454098	5	30	TT		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	Missense_Mutation	SNP	180557800	180557800	17092	5	T	A	A	64	64	TRIM7	A	4	4
HEATR7B2	133558	broad.mit.edu	36	5	41045225	41045225	+	Missense_Mutation	SNP	C	G	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41045225C>G	uc003jmj.2	-	c.3334G>C	c.(3334-3336)GCC>CCC	p.A1112P	HEATR7B2_uc003jmi.2_Missense_Mutation_p.A667P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1112	HEAT 12.						binding			ovary(6)|central_nervous_system(2)	8														0.458647	186.33977	186.509148	61	72	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	41045225	41045225	7318	5	C	G	G	28	28	HEATR7B2	G	3	3
GPR6	2830	broad.mit.edu	36	6	110407061	110407061	+	Missense_Mutation	SNP	C	G	G			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:110407061C>G	uc003ptu.1	+	c.53C>G	c.(52-54)GCC>GGC	p.A18G		NM_005284	NP_005275	P46095	GPR6_HUMAN	G protein-coupled receptor 6	18	Extracellular (Potential).					integral to plasma membrane					0		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)												0.25	7.88746	8.801216	4	12	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	Missense_Mutation	SNP	110407061	110407061	6976	6	C	G	G	26	26	GPR6	G	3	3
DNAH8	1769	broad.mit.edu	36	6	38913698	38913698	+	Silent	SNP	C	A	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:38913698C>A	uc003ooe.1	+	c.3717C>A	c.(3715-3717)GCC>GCA	p.A1239A		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	1239					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.352941	89.523557	91.145083	30	55	CC		KEEP	---	---	---	---	capture			Silent	SNP	38913698	38913698	4790	6	C	A	A	21	21	DNAH8	A	3	3
MRPL32	64983	broad.mit.edu	36	7	42943548	42943548	+	Nonsense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:42943548C>T	uc003tia.1	+	c.415C>T	c.(415-417)CGA>TGA	p.R139*	MRPL32_uc003tib.1_Non-coding_Transcript|MRPL32_uc003tic.1_Nonsense_Mutation_p.R86*	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	139					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome				0														0.259259	141.406926	152.741985	56	160	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	42943548	42943548	10188	7	C	T	T	19	19	MRPL32	T	5	1
MYO1G	64005	broad.mit.edu	36	7	44983100	44983100	+	Missense_Mutation	SNP	G	C	C			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:44983100G>C	uc003tmh.1	-	c.191C>G	c.(190-192)GCC>GGC	p.A64G	MYO1G_uc003tmg.1_5'Flank|MYO1G_uc010kym.1_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.1_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	64	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|pancreas(1)	3														0.235294	102.638748	112.43075	36	117	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44983100	44983100	10469	7	G	C	C	42	42	MYO1G	C	3	3
FZD1	8321	broad.mit.edu	36	7	90733088	90733088	+	Silent	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:90733088G>A	uc003ula.1	+	c.957G>A	c.(955-957)TCG>TCA	p.S319S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1	319	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|regulation of gene-specific transcription from RNA polymerase II promoter|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)									79				0.280488	122.687328	129.787012	46	118	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.0134)		Silent	SNP	90733088	90733088	6379	7	G	A	A	38	38	FZD1	A	1	1
ZCWPW1	55063	broad.mit.edu	36	7	99855344	99855344	+	Missense_Mutation	SNP	C	A	A			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:99855344C>A	uc003uut.1	-	c.127G>T	c.(127-129)GGG>TGG	p.G43W	ZCWPW1_uc003uur.1_5'Flank|ZCWPW1_uc003uus.1_5'UTR|ZCWPW1_uc003uuu.1_Missense_Mutation_p.G42W	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	43							zinc ion binding				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)													0.450617	218.757289	219.100916	73	89	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99855344	99855344	18185	7	C	A	A	22	22	ZCWPW1	A	3	3
GRHL2	79977	broad.mit.edu	36	8	102718308	102718308	+	Missense_Mutation	SNP	A	G	G			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr8:102718308A>G	uc010mbu.1	+	c.1493A>G	c.(1492-1494)TAC>TGC	p.Y498C		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	transcription factor CP2-like 3	498					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(2)|skin(1)	3	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)													0.497674	393.932622	393.933554	107	108	AA		KEEP	---	---	---	---	capture	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		Missense_Mutation	SNP	102718308	102718308	7042	8	A	G	G	14	14	GRHL2	G	4	4
PLEC	5339	broad.mit.edu	36	8	145068414	145068414	+	Silent	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:145068414C>T	uc003zaf.1	-	c.7974G>A	c.(7972-7974)CAG>CAA	p.Q2658Q	PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.1_Silent_p.Q2507Q|PLEC_uc003zai.1_Silent_p.Q2548Q|PLEC_uc003zaj.1_Silent_p.Q2548Q|PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.1_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin 1 isoform 6	2658	Central fibrous rod domain.|Potential.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|central_nervous_system(1)	7														0.48	38.898601	38.90732	12	13	CC		KEEP	---	---	---	---	capture			Silent	SNP	145068414	145068414	12478	8	C	T	T	24	24	PLEC	T	2	2
TNFRSF10A	8797	broad.mit.edu	36	8	23116216	23116216	+	Missense_Mutation	SNP	G	C	C			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:23116216G>C	uc003xda.1	-	c.407C>G	c.(406-408)TCT>TGT	p.S136C		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	136	TNFR-Cys 1.|Extracellular (Potential).				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors	integral to membrane	caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)	5		Prostate(55;0.0421)|Breast(100;0.14)												0.382979	127.481987	128.609443	36	58	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	Missense_Mutation	SNP	23116216	23116216	16821	8	G	C	C	33	33	TNFRSF10A	C	3	3
KCNU1	157855	broad.mit.edu	36	8	36886127	36886127	+	Missense_Mutation	SNP	G	T	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:36886127G>T	uc010lvw.1	+	c.2247G>T	c.(2245-2247)AAG>AAT	p.K749N	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	749	Cytoplasmic (Potential).					voltage-gated potassium channel complex	binding|catalytic activity|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(1)	1														0.300562	291.719935	304.413821	107	249	GG		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	Missense_Mutation	SNP	36886127	36886127	8398	8	G	T	T	35	35	KCNU1	T	3	3
PXDNL	137902	broad.mit.edu	36	8	52501817	52501817	+	Missense_Mutation	SNP	T	G	G			TCGA-41-2575-01	TCGA-41-2575-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr8:52501817T>G	uc003xqu.2	-	c.1580A>C	c.(1579-1581)AAT>ACT	p.N527T		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog-like	527	Ig-like C2-type 4.				hydrogen peroxide catabolic process|oxidation-reduction 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)												0.5	39.525716	39.525716	11	11	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52501817	52501817	13306	8	T	G	G	52	52	PXDNL	G	4	4
UBXN2B	137886	broad.mit.edu	36	8	59508354	59508354	+	Missense_Mutation	SNP	G	T	T			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:59508354G>T	uc003xtl.1	+	c.421G>T	c.(421-423)GAT>TAT	p.D141Y	UBXN2B_uc010lyo.1_5'Flank	NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	141	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				ovary(2)	2														0.438735	315.168259	315.999252	111	142	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59508354	59508354	17473	8	G	T	T	33	33	UBXN2B	T	3	3
LRRCC1	85444	broad.mit.edu	36	8	86234422	86234422	+	Missense_Mutation	SNP	C	T	T			TCGA-41-2575-01	TCGA-41-2575-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:86234422C>T	uc003ycw.1	+	c.2057C>T	c.(2056-2058)TCC>TTC	p.S686F	LRRCC1_uc003ycx.1_Missense_Mutation_p.S593F|LRRCC1_uc003ycy.1_Missense_Mutation_p.S666F|LRRCC1_uc010maa.1_Missense_Mutation_p.S387F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	686					cell division|mitosis	centriole|nucleus					0														0.5	197.327817	197.327817	63	63	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86234422	86234422	9402	8	C	T	T	30	30	LRRCC1	T	2	2
EIF2S3	1968	broad.mit.edu	36	X	23985502	23985502	+	Missense_Mutation	SNP	A	T	T			TCGA-41-2575-01	TCGA-41-2575-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:23985502A>T	uc004dbc.1	+	c.177A>T	c.(175-177)AAA>AAT	p.K59N		NM_001415	NP_001406	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2,	59						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			lung(1)	1														0.844156	219.222721	227.930725	65	12	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23985502	23985502	5200	23	A	T	T	3	3	EIF2S3	T	4	4
OTUD5	55593	broad.mit.edu	36	X	48666206	48666206	+	Missense_Mutation	SNP	G	A	A			TCGA-41-2575-01	TCGA-41-2575-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48666206G>A	uc004dlu.1	-	c.1346C>T	c.(1345-1347)ACT>ATT	p.T449I	OTUD5_uc004dlt.2_Missense_Mutation_p.T444I|OTUD5_uc004dlv.1_Missense_Mutation_p.T444I	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	OTU domain containing 5 isoform a	449					negative regulation of type I interferon production		cysteine-type peptidase activity			pancreas(1)	1														0.444444	10.498306	10.522519	4	5	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48666206	48666206	11728	23	G	A	A	36	36	OTUD5	A	2	2
PCDH9	5101	broad.mit.edu	36	13	66700279	66700280	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-41-2575-01	TCGA-41-2575-01										Phase_I	Unspecified				Illumina GAIIx	g.chr13:66700279_66700280delCA	uc001vik.1	-	c.294_295delTG	c.(292-297)TGTGCTfs	p.C98fs	PCDH9_uc001vil.1_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.2_Frame_Shift_Del_p.C98fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	98_99	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)										0.39			39	60				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	66700279	66700280	11938	13	CA	-	-	25	25	PCDH9	-	5	5
SYN2	6854	broad.mit.edu	36	3	12021124	12021126	+	In_Frame_Del	DEL	AGC	-	-			TCGA-41-2575-01	TCGA-41-2575-01										Phase_I	Unspecified				Illumina GAIIx	g.chr3:12021124_12021126delAGC	uc003bwm.1	+	c.99_101delAGC	c.(97-102)CAACCG>CAG	p.P40del	SYN2_uc003bwl.1_In_Frame_Del_p.P40del	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	synapsin II isoform IIa	40					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			ovary(1)|central_nervous_system(1)	2														0.33			2	4				---	---	---	---	capture_indel			In_Frame_Del	DEL	12021124	12021126	15962	3	AGC	-	-	3	3	SYN2	-	5	5
