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
FAM53B	9679	broad.mit.edu	36	10	126301902	126301902	+	Missense_Mutation	SNP	T	C	C			TCGA-14-0817-01	TCGA-14-0817-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:126301902T>C	uc001lhv.1	-	c.1168A>G	c.(1168-1170)AGA>GGA	p.R390G	FAM53B_uc001lhu.1_Intron	NM_014661	NP_055476	Q14153	FA53B_HUMAN	hypothetical protein LOC9679	390										ovary(1)|pancreas(1)	2		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)												0.4	10.188007	10.334453	6	9	TT		KEEP	---	---	---	---	capture		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	Missense_Mutation	SNP	126301902	126301902	5802	10	T	C	C	54	54	FAM53B	C	4	4
C10orf12	26148	broad.mit.edu	36	10	98731757	98731757	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:98731757G>A	uc001kmv.1	+	c.620G>A	c.(619-621)CGT>CAT	p.R207H	C10orf12_uc009xvg.1_Missense_Mutation_p.R517H	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	hypothetical protein LOC26148	207											0		Colorectal(252;0.172)												0.669118	291.670976	295.124675	91	45	GG		KEEP	---	---	---	---	capture		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	Missense_Mutation	SNP	98731757	98731757	1624	10	G	A	A	40	40	C10orf12	A	1	1
TPH1	7166	broad.mit.edu	36	11	18003730	18003730	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:18003730C>T	uc001mnp.1	-	c.898G>A	c.(898-900)GCT>ACT	p.A300T	TPH1_uc009yhe.1_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	300					aromatic amino acid family metabolic process|hormone biosynthetic process|oxidation-reduction process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity				0					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)					206				0.196581	45.100171	55.107471	23	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	18003730	18003730	16945	11	C	T	T	27	27	TPH1	T	1	1
INS	3630	broad.mit.edu	36	11	2137658	2137658	+	Silent	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:2137658C>T	uc001lvn.1	-	c.333G>A	c.(331-333)TAG>TAA	p.*111*	INS-IGF2_uc001lvi.1_Intron|INS-IGF2_uc001lvm.1_Intron|INS_uc001lvo.1_Silent_p.*111*|INS_uc009ydg.1_Silent_p.*99*	NM_000207	NP_000198	P01308	INS_HUMAN	proinsulin precursor	111					activation of protein kinase B activity|acute-phase response|alpha-beta T cell activation|cell-cell signaling|endocrine pancreas development|energy reserve metabolic process|fatty acid homeostasis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|glucose metabolic process|glucose transport|insulin receptor signaling pathway|MAPKKK cascade|negative regulation of acute inflammatory response|negative regulation of apoptosis|negative regulation of fatty acid metabolic process|negative regulation of feeding behavior|negative regulation of gluconeogenesis|negative regulation of glycogen catabolic process|negative regulation of lipid catabolic process|negative regulation of NAD(P)H oxidase activity|negative regulation of protein catabolic process|negative regulation of protein secretion|negative regulation of proteolysis|negative regulation of respiratory burst involved in inflammatory response|negative regulation of vasodilation|positive regulation of cell differentiation|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine secretion|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin receptor signaling pathway|positive regulation of lipid biosynthetic process|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of respiratory burst|positive regulation of vasodilation|regulation of cellular amino acid metabolic process|regulation of gene-specific transcription|regulation of insulin secretion|regulation of transmembrane transporter activity|wound healing	endoplasmic reticulum lumen|endosome lumen|extracellular space	hormone activity|insulin receptor binding|insulin-like growth factor receptor binding				0		Lung NSC(207;8.94e-06)|all_epithelial(84;3.17e-05)|all_lung(207;3.67e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)												0.2	6.91591	8.171929	3	12	CC		KEEP	---	---	---	---	capture	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.14)	Silent	SNP	2137658	2137658	8063	11	C	T	T	32	32	INS	T	2	2
SLC5A12	159963	broad.mit.edu	36	11	26690817	26690817	+	Nonsense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:26690817G>A	uc001mra.2	-	c.352C>T	c.(352-354)CGA>TGA	p.R118*	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.2_Nonsense_Mutation_p.R118*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/glucose	118	Cytoplasmic (Potential).				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			ovary(1)	1														0.285714	237.464492	250.734912	92	230	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	26690817	26690817	15161	11	G	A	A	40	40	SLC5A12	A	5	1
LRRC4C	57689	broad.mit.edu	36	11	40092520	40092520	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:40092520G>T	uc001mxa.1	-	c.1899C>A	c.(1897-1899)GAC>GAA	p.D633E	LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E|LRRC4C_uc009ykn.1_Missense_Mutation_p.D633E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	netrin-G1 ligand	633					regulation of axonogenesis	integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5		all_lung(304;0.0575)|Lung NSC(402;0.138)												0.543689	178.101451	178.271767	56	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40092520	40092520	9383	11	G	T	T	48	48	LRRC4C	T	3	3
MDK	4192	broad.mit.edu	36	11	46360713	46360713	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:46360713C>T	uc009ykz.1	+	c.245C>T	c.(244-246)GCC>GTC	p.A82V	MDK_uc001nco.1_Missense_Mutation_p.A82V|MDK_uc001ncp.1_Missense_Mutation_p.A82V|MDK_uc009yla.1_Missense_Mutation_p.A26V|MDK_uc009ylb.1_Intron|MDK_uc001ncq.1_Missense_Mutation_p.A82V|MDK_uc001ncr.1_Non-coding_Transcript|MDK_uc001ncs.1_Missense_Mutation_p.A82V	NM_002391	NP_002382	P21741	MK_HUMAN	midkine	82					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding				0														0.444444	19.589068	19.638571	8	10	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)	Missense_Mutation	SNP	46360713	46360713	9800	11	C	T	T	26	26	MDK	T	2	2
OR5AR1	219493	broad.mit.edu	36	11	56188275	56188275	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56188275G>A	uc001njc.1	+	c.538G>A	c.(538-540)GAA>AAA	p.E180K		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	180	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.229167	105.028773	117.92405	44	148	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56188275	56188275	11555	11	G	A	A	37	37	OR5AR1	A	1	1
OR9G4	283189	broad.mit.edu	36	11	56267859	56267859	+	Missense_Mutation	SNP	A	T	T			TCGA-14-0817-01	TCGA-14-0817-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56267859A>T	uc001nje.1	-	c.5T>A	c.(4-6)ATT>AAT	p.I2N		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	2	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.165468	45.236636	59.997685	23	116	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56267859	56267859	11662	11	A	T	T	4	4	OR9G4	T	4	4
OR4D6	219983	broad.mit.edu	36	11	58981241	58981241	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:58981241G>A	uc001nny.1	+	c.232G>A	c.(232-234)GTC>ATC	p.V78I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1														0.530201	246.533889	246.652497	79	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	58981241	58981241	11465	11	G	A	A	40	40	OR4D6	A	1	1
ARHGEF17	9828	broad.mit.edu	36	11	72751276	72751276	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:72751276G>A	uc001otu.1	+	c.4845G>A	c.(4843-4845)TCG>TCA	p.S1615S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0														0.423077	32.726385	32.859058	11	15	GG		KEEP	---	---	---	---	capture			Silent	SNP	72751276	72751276	914	11	G	A	A	39	39	ARHGEF17	A	1	1
LHX5	64211	broad.mit.edu	36	12	112385636	112385636	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112385636G>A	uc001tvj.1	-	c.951C>T	c.(949-951)GGC>GGT	p.G317G		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	317					regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0														0.428571	8.723763	8.754925	3	4	GG		KEEP	---	---	---	---	capture			Silent	SNP	112385636	112385636	9100	12	G	A	A	42	42	LHX5	A	2	2
RBM19	9904	broad.mit.edu	36	12	112862287	112862287	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112862287G>A	uc009zwi.1	-	c.1799C>T	c.(1798-1800)GCG>GTG	p.A600V	RBM19_uc001tvm.1_Missense_Mutation_p.A600V|RBM19_uc001tvn.2_Missense_Mutation_p.A600V	NM_016196	NP_057280	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	600	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(2)|ovary(1)|liver(1)|central_nervous_system(1)	5	Medulloblastoma(191;0.163)|all_neural(191;0.178)													0.258741	84.51814	92.054368	37	106	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112862287	112862287	13582	12	G	A	A	38	38	RBM19	A	1	1
FZD10	11211	broad.mit.edu	36	12	129213934	129213934	+	Missense_Mutation	SNP	T	C	C			TCGA-14-0817-01	TCGA-14-0817-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr12:129213934T>C	uc001uii.1	+	c.494T>C	c.(493-495)TTC>TCC	p.F165S		NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	frizzled 10	165	Extracellular (Potential).				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|regulation of gene-specific transcription from RNA polymerase II promoter|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)													0.192308	8.387628	10.667782	5	21	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)	Missense_Mutation	SNP	129213934	129213934	6380	12	T	C	C	62	62	FZD10	C	4	4
VWF	7450	broad.mit.edu	36	12	6003206	6003206	+	Silent	SNP	G	C	C			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:6003206G>C	uc001qnn.1	-	c.3231C>G	c.(3229-3231)CCC>CCG	p.P1077P		NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1077					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			ovary(3)|pancreas(2)|breast(1)|central_nervous_system(1)	7					Antihemophilic Factor(DB00025)									0.181818	9.186281	11.278872	4	18	GG		KEEP	---	---	---	---	capture			Silent	SNP	6003206	6003206	17818	12	G	C	C	39	39	VWF	C	3	3
PZP	5858	broad.mit.edu	36	12	9238036	9238036	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:9238036G>A	uc001qvl.1	-	c.1158C>T	c.(1156-1158)GAC>GAT	p.D386D	PZP_uc009zgl.1_Silent_p.D255D	NM_002864	NP_002855			pregnancy-zone protein											ovary(3)|large_intestine(1)	4						Melanoma(125;1402 1695 4685 34487 38571)								0.347561	156.826962	160.190071	57	107	GG		KEEP	---	---	---	---	capture			Silent	SNP	9238036	9238036	13327	12	G	A	A	40	40	PZP	A	1	1
NR1H4	9971	broad.mit.edu	36	12	99421399	99421399	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:99421399G>A	uc001tht.1	+	c.103G>A	c.(103-105)GCG>ACG	p.A35T	NR1H4_uc001thp.1_Intron|NR1H4_uc001thq.1_Intron|NR1H4_uc001thr.1_Intron|NR1H4_uc001ths.1_Missense_Mutation_p.A35T	NM_005123	NP_005114	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	35					bile acid metabolic process|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|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|skin(1)	3														0.392857	31.217379	31.499265	11	17	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	99421399	99421399	11024	12	G	A	A	38	38	NR1H4	A	1	1
SLC7A8	23428	broad.mit.edu	36	14	22670586	22670586	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:22670586C>T	uc001wiz.1	-	c.1037G>A	c.(1036-1038)CGA>CAA	p.R346Q	SLC7A8_uc001wix.1_Missense_Mutation_p.R143Q|SLC7A8_uc001wiy.1_Non-coding_Transcript|SLC7A8_uc010akj.1_Intron|SLC7A8_uc001wiw.1_5'Flank	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (cationic amino acid	346					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			ovary(1)	1	all_cancers(95;4.6e-05)				L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)									0.483333	84.573956	84.588214	29	31	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.00809)	Missense_Mutation	SNP	22670586	22670586	15201	14	C	T	T	31	31	SLC7A8	T	1	1
IPO4	79711	broad.mit.edu	36	14	23720642	23720642	+	Missense_Mutation	SNP	C	G	G			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23720642C>G	uc001wmv.1	-	c.2962G>C	c.(2962-2964)GCC>CCC	p.A988P	IPO4_uc001wmu.1_Missense_Mutation_p.A650P|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.A852P|IPO4_uc001wmy.1_Missense_Mutation_p.A852P|IPO4_uc001wmz.1_Missense_Mutation_p.A988P|IPO4_uc001wmt.1_Missense_Mutation_p.A466P	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	importin 4	988					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			kidney(1)	1														0.461538	11.93211	11.950224	6	7	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0087)	Missense_Mutation	SNP	23720642	23720642	8096	14	C	G	G	25	25	IPO4	G	3	3
RABGGTA	5875	broad.mit.edu	36	14	23808717	23808717	+	Missense_Mutation	SNP	A	C	C			TCGA-14-0817-01	TCGA-14-0817-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23808717A>C	uc001wof.1	-	c.451T>G	c.(451-453)TTT>GTT	p.F151V	RABGGTA_uc001woe.1_Non-coding_Transcript|RABGGTA_uc001wog.1_Missense_Mutation_p.F151V|RABGGTA_uc001woh.1_Non-coding_Transcript|RABGGTA_uc001woi.1_Non-coding_Transcript	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	151	PFTA 3.				visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0														0.185185	6.446375	8.98029	5	22	AA		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0184)	Missense_Mutation	SNP	23808717	23808717	13426	14	A	C	C	2	2	RABGGTA	C	4	4
SPTB	6710	broad.mit.edu	36	14	64331029	64331029	+	Silent	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:64331029C>T	uc001xhr.1	-	c.1704G>A	c.(1702-1704)CAG>CAA	p.Q568Q	SPTB_uc001xhs.1_Silent_p.Q568Q|SPTB_uc001xht.1_Silent_p.Q568Q|SPTB_uc001xhu.1_Silent_p.Q568Q	NM_001024858	NP_001020029	P11277	SPTB1_HUMAN	spectrin beta isoform a	568	Spectrin 3.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|lung(1)|central_nervous_system(1)	9		all_lung(585;4.15e-09)												0.412879	334.827725	336.600573	109	155	CC		KEEP	---	---	---	---	capture		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	Silent	SNP	64331029	64331029	15632	14	C	T	T	32	32	SPTB	T	2	2
EXD2	55218	broad.mit.edu	36	14	68772623	68772623	+	Splice_Site_SNP	SNP	G	T	T			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr14:68772623G>T	uc001xkv.1	+	c.1156_splice	c.e6+1	p.E386_splice	EXD2_uc001xkt.1_Splice_Site_SNP_p.E261_splice|EXD2_uc001xku.1_Splice_Site_SNP_p.E131_splice|EXD2_uc001xkw.1_Splice_Site_SNP_p.E261_splice|EXD2_uc010aqt.1_Splice_Site_SNP_p.E386_splice|EXD2_uc001xky.1_Splice_Site_SNP_p.E261_splice	NM_018199	NP_060669			exonuclease 3'-5' domain containing 2						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding				0														0.47561	252.541572	252.626353	78	86	GG		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	68772623	68772623	5491	14	G	T	T	44	44	EXD2	T	5	3
CAPN3	825	broad.mit.edu	36	15	40487718	40487718	+	Silent	SNP	G	A	A	rs28364528	unknown	TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:40487718G>A	uc001zpn.1	+	c.1818G>A	c.(1816-1818)TCG>TCA	p.S606S	CAPN3_uc001zpk.1_3'UTR|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc001zpm.1_3'UTR|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	NM_000070	NP_000061	P20807	CAN3_HUMAN	calpain 3 isoform a	606	Linker.		S -> L (in LGMD2A).		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)												0.21	47.746768	55.50936	21	79	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;7.36e-07)	Silent	SNP	40487718	40487718	2746	15	G	A	A	39	39	CAPN3	A	1	1
GOLGA6B	55889	broad.mit.edu	36	15	70741709	70741709	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:70741709G>A	uc002auw.1	+	c.910G>A	c.(910-912)GCC>ACC	p.A304T		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	golgi autoantigen, golgin subfamily a, 6B	304	Potential.										0														0.470588	219.907715	220.020736	72	81	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70741709	70741709	6827	15	G	A	A	42	42	GOLGA6B	A	2	2
ISLR2	57611	broad.mit.edu	36	15	72213864	72213864	+	Silent	SNP	C	G	G			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:72213864C>G	uc002axd.1	+	c.1716C>G	c.(1714-1716)GGC>GGG	p.G572G	ISLR2_uc002axe.1_Silent_p.G572G|ISLR2_uc010bjf.1_Silent_p.G572G|ISLR2_uc002axf.1_Silent_p.G572G|ISLR2_uc010bjg.1_Silent_p.G572G	NM_020851	NP_065902	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing	572	Extracellular (Potential).				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane					0														0.307692	7.586367	8.020572	4	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	72213864	72213864	8163	15	C	G	G	27	27	ISLR2	G	3	3
MYH2	4620	broad.mit.edu	36	17	10387789	10387789	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:10387789G>A	uc010coi.1	-	c.705C>T	c.(703-705)AAC>AAT	p.N235N	MYH2_uc002gmp.2_Silent_p.N235N|MYH2_uc010coj.1_Silent_p.N235N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	235	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|lung(1)|kidney(1)	11														0.823171	450.719586	466.857361	135	29	GG		KEEP	---	---	---	---	capture			Silent	SNP	10387789	10387789	10430	17	G	A	A	40	40	MYH2	A	1	1
MYBBP1A	10514	broad.mit.edu	36	17	4394896	4394896	+	Missense_Mutation	SNP	C	G	G			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:4394896C>G	uc002fxz.2	-	c.2380G>C	c.(2380-2382)GCC>CCC	p.A794P	MYBBP1A_uc002fya.2_5'Flank|MYBBP1A_uc002fyb.2_Missense_Mutation_p.A794P	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 1	794					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2														0.235294	6.327589	7.394606	4	13	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	4394896	4394896	10403	17	C	G	G	27	27	MYBBP1A	G	3	3
TIMM22	29928	broad.mit.edu	36	17	847140	847140	+	Missense_Mutation	SNP	C	G	G			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:847140C>G	uc002fsc.1	+	c.8C>G	c.(7-9)GCG>GGG	p.A3G		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22	3					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity				0														0.5	7.152554	7.152554	5	5	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	Missense_Mutation	SNP	847140	847140	16439	17	C	G	G	27	27	TIMM22	G	3	3
DSG3	1830	broad.mit.edu	36	18	27292465	27292465	+	Silent	SNP	C	A	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:27292465C>A	uc002kws.1	+	c.276C>A	c.(274-276)ATC>ATA	p.I92I		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	92	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			ovary(3)|lung(1)|central_nervous_system(1)	5														0.366071	117.359078	119.119712	41	71	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		Silent	SNP	27292465	27292465	4962	18	C	A	A	31	31	DSG3	A	3	3
EPB41L3	23136	broad.mit.edu	36	18	5418401	5418401	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:5418401G>A	uc002kmt.1	-	c.976C>T	c.(976-978)CGG>TGG	p.R326W	EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	326	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5														0.420849	335.847334	337.258985	109	150	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	5418401	5418401	5347	18	G	A	A	39	39	EPB41L3	A	1	1
SYT6	148281	broad.mit.edu	36	1	114483808	114483808	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:114483808C>T	uc001eev.1	-	c.209G>A	c.(208-210)CGT>CAT	p.R70H		NM_205848	NP_995320	Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)												0.418182	129.431269	130.073529	46	64	CC		KEEP	---	---	---	---	capture		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)	Missense_Mutation	SNP	114483808	114483808	15999	1	C	T	T	19	19	SYT6	T	1	1
FLG	2312	broad.mit.edu	36	1	150548890	150548890	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150548890C>T	uc001ezu.1	-	c.5096G>A	c.(5095-5097)CGC>CAC	p.R1699H		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1699	Ser-rich.|Filaggrin 10.				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)													0.413934	859.765234	864.504704	303	429	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150548890	150548890	6160	1	C	T	T	27	27	FLG	T	1	1
PKLR	5313	broad.mit.edu	36	1	153531057	153531057	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153531057C>T	uc001fkb.2	-	c.805G>A	c.(805-807)GTC>ATC	p.V269I	PKLR_uc001fka.2_Missense_Mutation_p.V238I	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	269					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(3)|ovary(1)	4	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)				Pyruvic acid(DB00119)									0.397727	97.10094	97.907347	35	53	CC		KEEP	---	---	---	---	capture	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Missense_Mutation	SNP	153531057	153531057	12401	1	C	T	T	19	19	PKLR	T	1	1
KCNH1	3756	broad.mit.edu	36	1	209044098	209044098	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:209044098G>A	uc001hib.1	-	c.1496C>T	c.(1495-1497)ACG>ATG	p.T499M	KCNH1_uc001hic.1_Missense_Mutation_p.T472M	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	499	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5														0.142857	12.029531	19.778663	9	54	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	Missense_Mutation	SNP	209044098	209044098	8336	1	G	A	A	40	40	KCNH1	A	1	1
OBSCN	84033	broad.mit.edu	36	1	226562555	226562555	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:226562555G>C	uc009xez.1	+	c.12587G>C	c.(12586-12588)GGC>GCC	p.G4196A	OBSCN_uc001hsn.1_Missense_Mutation_p.G4196A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	4196	Ig-like 43.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|protein phosphorylation|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			large_intestine(7)|breast(5)|ovary(4)|skin(2)|stomach(1)|central_nervous_system(1)|pancreas(1)	21		Prostate(94;0.0405)								4006				0.4	12.230958	12.366124	6	9	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	226562555	226562555	11217	1	G	C	C	42	42	OBSCN	C	3	3
HCRTR1	3061	broad.mit.edu	36	1	31857490	31857490	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:31857490G>A	uc009vtx.1	+	c.110G>A	c.(109-111)CGC>CAC	p.R37H	HCRTR1_uc001btb.1_Intron|HCRTR1_uc001btc.2_Missense_Mutation_p.A11T|HCRTR1_uc001btd.1_Missense_Mutation_p.R37H	NM_001525	NP_001516	O43613	OX1R_HUMAN	orexin receptor 1	37	Extracellular (Potential).				feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				ovary(1)	1		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)												0.297753	420.796313	440.278972	159	375	GG		KEEP	---	---	---	---	capture		STAD - Stomach adenocarcinoma(196;0.053)	Missense_Mutation	SNP	31857490	31857490	7284	1	G	A	A	38	38	HCRTR1	A	1	1
ARHGEF16	27237	broad.mit.edu	36	1	3384876	3384876	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:3384876G>A	uc001akg.2	+	c.1654G>A	c.(1654-1656)GCC>ACC	p.A552T	ARHGEF16_uc001aki.1_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.1_Missense_Mutation_p.A264T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	552	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)												0.325359	176.916206	182.578554	68	141	GG		KEEP	---	---	---	---	capture		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)	Missense_Mutation	SNP	3384876	3384876	913	1	G	A	A	38	38	ARHGEF16	A	1	1
SLC2A7	155184	broad.mit.edu	36	1	9007713	9007713	+	Missense_Mutation	SNP	T	G	G			TCGA-14-0817-01	TCGA-14-0817-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:9007713T>G	uc009vmo.1	-	c.59A>C	c.(58-60)CAG>CCG	p.Q20P		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	intestinal facilitative glucose transporter 7	20	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sugar transmembrane transporter activity				0	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)												0.222222	11.971368	14.549656	8	28	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)	Missense_Mutation	SNP	9007713	9007713	15047	1	T	G	G	55	55	SLC2A7	G	4	4
TGFBR3	7049	broad.mit.edu	36	1	91996809	91996809	+	Silent	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:91996809C>T	uc001doh.1	-	c.333G>A	c.(331-333)GTG>GTA	p.V111V	TGFBR3_uc009wde.1_De_novo_Start_OutOfFrame|TGFBR3_uc001doi.1_Silent_p.V111V|TGFBR3_uc001doj.1_Silent_p.V111V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	111	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)												0.478114	410.126981	410.250572	142	155	CC		KEEP	---	---	---	---	capture		all cancers(265;0.0108)|Epithelial(280;0.0825)	Silent	SNP	91996809	91996809	16351	1	C	T	T	17	17	TGFBR3	T	2	2
NINL	22981	broad.mit.edu	36	20	25417920	25417920	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25417920C>T	uc002wux.1	-	c.1637G>A	c.(1636-1638)CGG>CAG	p.R546Q	NINL_uc010gdn.1_Missense_Mutation_p.R546Q|NINL_uc010gdo.1_Missense_Mutation_p.R329Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	546	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.140845	48.425851	74.925724	30	183	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25417920	25417920	10821	20	C	T	T	23	23	NINL	T	1	1
TGM2	7052	broad.mit.edu	36	20	36201440	36201440	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36201440C>T	uc002xhr.1	-	c.1130G>A	c.(1129-1131)CGT>CAT	p.R377H	TGM2_uc002xhs.1_Missense_Mutation_p.R353H|TGM2_uc002xht.1_Missense_Mutation_p.R377H	NM_004613	NP_004604	P21980	TGM2_HUMAN	transglutaminase 2 isoform a	377					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			large_intestine(1)|lung(1)|ovary(1)	3		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)									0.348315	87.70113	89.507006	31	58	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36201440	36201440	16358	20	C	T	T	19	19	TGM2	T	1	1
ZBP1	81030	broad.mit.edu	36	20	55624808	55624808	+	Missense_Mutation	SNP	T	G	G			TCGA-14-0817-01	TCGA-14-0817-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55624808T>G	uc002xyo.1	-	c.157A>C	c.(157-159)AAA>CAA	p.K53Q	ZBP1_uc010gjm.1_Missense_Mutation_p.K53Q|ZBP1_uc002xyp.1_Intron	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	53	DRADA 1.						double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)													0.35443	368.322358	374.218657	112	204	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		Missense_Mutation	SNP	55624808	55624808	18107	20	T	G	G	62	62	ZBP1	G	4	4
RIPK4	54101	broad.mit.edu	36	21	42034529	42034529	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:42034529G>A	uc002yzn.1	-	c.1893C>T	c.(1891-1893)AAC>AAT	p.N631N		NM_020639	NP_065690	Q9H4D1	Q9H4D1_HUMAN	ankyrin repeat domain 3	631					protein phosphorylation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7										268				0.34127	116.888253	119.69291	43	83	GG		KEEP	---	---	---	---	capture			Silent	SNP	42034529	42034529	13860	21	G	A	A	40	40	RIPK4	A	1	1
BID	637	broad.mit.edu	36	22	16606602	16606602	+	Missense_Mutation	SNP	T	G	G			TCGA-14-0817-01	TCGA-14-0817-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16606602T>G	uc002znc.1	-	c.328A>C	c.(328-330)AGC>CGC	p.S110R	BID_uc002znd.1_Missense_Mutation_p.S64R|BID_uc002zne.1_5'UTR|BID_uc010gra.1_Non-coding_Transcript|BID_uc002znf.1_Intron|BID_uc010grb.1_Missense_Mutation_p.S64R|BID_uc010grc.1_Intron	NM_197966	NP_001187	P55957	BID_HUMAN	BH3 interacting domain death agonist isoform 1	64					activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria	cytosol|membrane fraction|mitochondrial outer membrane	death receptor binding				0		all_epithelial(15;0.198)								1081				0.259259	7.900011	9.422567	7	20	TT		KEEP	---	---	---	---	capture		Lung(27;0.0419)	Missense_Mutation	SNP	16606602	16606602	1455	22	T	G	G	55	55	BID	G	4	4
APOBEC3H	164668	broad.mit.edu	36	22	37827911	37827911	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:37827911C>T	uc010gxw.1	+	c.461C>T	c.(460-462)CCG>CTG	p.P154L	APOBEC3H_uc003axa.2_Non-coding_Transcript	NM_181773	NP_861438	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	154							hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Melanoma(58;0.04)													0.407143	177.656786	178.709193	57	83	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37827911	37827911	806	22	C	T	T	23	23	APOBEC3H	T	1	1
CENPM	79019	broad.mit.edu	36	22	40672421	40672421	+	Missense_Mutation	SNP	A	G	G			TCGA-14-0817-01	TCGA-14-0817-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:40672421A>G	uc003bbn.1	-	c.83T>C	c.(82-84)CTG>CCG	p.L28P	LOC339674_uc003bba.1_Intron|CENPM_uc003bbm.1_5'UTR|CENPM_uc003bbo.1_Missense_Mutation_p.L28P|CENPM_uc003bbp.1_Missense_Mutation_p.L28P	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	centromere protein M isoform a	28					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus					0												OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.25	27.897703	30.403599	11	33	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	40672421	40672421	3370	22	A	G	G	7	7	CENPM	G	4	4
SCN7A	6332	broad.mit.edu	36	2	166971312	166971312	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:166971312C>T	uc002udu.1	-	c.4073G>A	c.(4072-4074)CGT>CAT	p.R1358H		NM_002976	NP_002967	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha	1358	Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity).				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			large_intestine(1)	1														0.284091	129.672726	137.041935	50	126	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166971312	166971312	14405	2	C	T	T	19	19	SCN7A	T	1	1
TTN	7273	broad.mit.edu	36	2	179283807	179283807	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179283807G>A	uc002umr.1	-	c.24530C>T	c.(24529-24531)ACG>ATG	p.T8177M	TTN_uc002ums.1_Intron|TTN_uc010frc.1_Intron|TTN_uc010frd.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4838M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9104										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										8722				0.425287	212.519257	213.3664	74	100	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Missense_Mutation	SNP	179283807	179283807	17290	2	G	A	A	40	40	TTN	A	1	1
PLCL1	5334	broad.mit.edu	36	2	198676886	198676886	+	Nonsense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:198676886G>A	uc010fsp.1	+	c.3086G>A	c.(3085-3087)TGG>TAG	p.W1029*	PLCL1_uc002uuv.2_Nonsense_Mutation_p.W950*|PLCL1_uc002uuw.2_Nonsense_Mutation_p.W931*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	phospholipase C-like 1 isoform a	1029					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)	1					Quinacrine(DB01103)									0.267857	42.201517	44.925043	15	41	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	198676886	198676886	12465	2	G	A	A	47	47	PLCL1	A	5	2
ESPNL	339768	broad.mit.edu	36	2	238703886	238703886	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:238703886C>T	uc002vxq.2	+	c.1792C>T	c.(1792-1794)CGC>TGC	p.R598C	ESPNL_uc010fyw.1_Missense_Mutation_p.R294C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	espin-like	598										pancreas(1)	1		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)												0.45	26.374119	26.417353	9	11	CC		KEEP	---	---	---	---	capture		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	Missense_Mutation	SNP	238703886	238703886	5448	2	C	T	T	23	23	ESPNL	T	1	1
GMCL1	64395	broad.mit.edu	36	2	69910557	69910557	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:69910557G>C	uc002sfu.1	+	c.29G>C	c.(28-30)CGC>CCC	p.R10P		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	germ cell-less	10					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				ovary(3)	3														0.4	8.40665	8.490775	4	6	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	69910557	69910557	6754	2	G	C	C	38	38	GMCL1	C	3	3
ASTL	431705	broad.mit.edu	36	2	96159344	96159344	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:96159344G>A	uc002svj.1	-	c.820C>T	c.(820-822)CGG>TGG	p.R274W		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	astacin-like metalloendopeptidase	274					proteolysis		metalloendopeptidase activity|zinc ion binding				0														0.329412	77.669702	79.863103	28	57	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	96159344	96159344	1082	2	G	A	A	39	39	ASTL	A	1	1
KBTBD12	166348	broad.mit.edu	36	3	129164864	129164864	+	Silent	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:129164864C>T	uc010hsr.1	+	c.1635C>T	c.(1633-1635)ACC>ACT	p.T545T	KBTBD12_uc003ejy.2_Silent_p.T152T|KBTBD12_uc010hsq.1_Non-coding_Transcript|KBTBD12_uc003eka.2_Silent_p.T120T	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	kelch domain containing 6	545	Kelch 3.									ovary(1)	1														0.272727	24.459378	25.996437	9	24	CC		KEEP	---	---	---	---	capture			Silent	SNP	129164864	129164864	8296	3	C	T	T	21	21	KBTBD12	T	2	2
CENPE	1062	broad.mit.edu	36	4	104288009	104288009	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:104288009C>A	uc003hxb.1	-	c.4087G>T	c.(4087-4089)GTT>TTT	p.V1363F	CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E	1363	Potential.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9														0.344828	203.884714	208.203196	70	133	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	Missense_Mutation	SNP	104288009	104288009	3363	4	C	A	A	20	20	CENPE	A	3	3
FBXW7	55294	broad.mit.edu	36	4	153463635	153463635	+	Nonsense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:153463635G>A	uc003ims.1	-	c.1972C>T	c.(1972-1974)CGA>TGA	p.R658*	FBXW7_uc003imq.1_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.1_Nonsense_Mutation_p.R540*|FBXW7_uc003imt.1_Nonsense_Mutation_p.R658*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	658	WD 7.				interspecies interaction between organisms|negative regulation of DNA endoreduplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.R658*(1)		haematopoietic_and_lymphoid_tissue(123)|large_intestine(99)|stomach(16)|endometrium(13)|ovary(9)|biliary_tract(8)|lung(4)|central_nervous_system(3)|kidney(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|skin(1)|NS(1)|bone(1)	289	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)								266				0.378261	248.46538	251.457604	87	143	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	153463635	153463635	6006	4	G	A	A	37	37	FBXW7	A	5	1
CNGA1	1259	broad.mit.edu	36	4	47633289	47633289	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:47633289G>T	uc003gxu.1	-	c.2186C>A	c.(2185-2187)ACC>AAC	p.T729N	CNGA1_uc003gxs.1_Missense_Mutation_p.T660N|CNGA1_uc003gxt.2_Missense_Mutation_p.T660N	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	660	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2														0.373206	226.691663	229.644742	78	131	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47633289	47633289	3734	4	G	T	T	44	44	CNGA1	T	3	3
GAK	2580	broad.mit.edu	36	4	852325	852325	+	Splice_Site_SNP	SNP	A	C	C			TCGA-14-0817-01	TCGA-14-0817-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:852325A>C	uc003gbm.2	-	c.2395_splice	c.e20+1	p.E799_splice	GAK_uc010ibi.1_5'Flank|GAK_uc010ibj.1_Splice_Site_SNP|GAK_uc003gbl.2_Splice_Site_SNP_p.E663_splice|GAK_uc003gbn.2_Splice_Site_SNP_p.E720_splice|GAK_uc010ibk.1_Splice_Site_SNP_p.E693_splice	NM_005255	NP_005246			cyclin G associated kinase						cell cycle|protein phosphorylation	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			lung(2)|central_nervous_system(1)	3										679				0.285714	8.793253	9.370945	4	10	AA		KEEP	---	---	---	---	capture		Colorectal(103;0.219)	Splice_Site_SNP	SNP	852325	852325	6459	4	A	C	C	14	14	GAK	C	5	4
SLC9A3	6550	broad.mit.edu	36	5	535707	535707	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:535707C>T	uc003jbe.1	-	c.1312G>A	c.(1312-1314)GTC>ATC	p.V438I		NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	438	Helical; Name=M/M10; (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0														0.442105	126.145085	126.420762	42	53	CC		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Missense_Mutation	SNP	535707	535707	15210	5	C	T	T	19	19	SLC9A3	T	1	1
SLC9A3	6550	broad.mit.edu	36	5	545020	545020	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:545020G>A	uc003jbe.1	-	c.378C>T	c.(376-378)GAC>GAT	p.D126D		NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	126	Helical; Name=D/M4; (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0														0.285714	10.49539	11.071576	4	10	GG		KEEP	---	---	---	---	capture	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		Silent	SNP	545020	545020	15210	5	G	A	A	40	40	SLC9A3	A	1	1
GPR98	84059	broad.mit.edu	36	5	89989807	89989807	+	Missense_Mutation	SNP	A	G	G			TCGA-14-0817-01	TCGA-14-0817-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr5:89989807A>G	uc003kju.1	+	c.4708A>G	c.(4708-4710)AAT>GAT	p.N1570D	GPR98_uc003kjt.1_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1570	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)												0.288288	88.45516	92.915837	32	79	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	Missense_Mutation	SNP	89989807	89989807	6997	5	A	G	G	5	5	GPR98	G	4	4
GRM1	2911	broad.mit.edu	36	6	146762451	146762451	+	Silent	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:146762451C>T	uc010khw.1	+	c.2583C>T	c.(2581-2583)GGC>GGT	p.G861G	GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	861	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			ovary(4)|central_nervous_system(3)|large_intestine(2)	9		Ovarian(120;0.0387)			Acamprosate(DB00659)|L-Glutamic Acid(DB00142)									0.210526	15.57471	18.527589	8	30	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Silent	SNP	146762451	146762451	7075	6	C	T	T	27	27	GRM1	T	1	1
SYNE1	23345	broad.mit.edu	36	6	152805061	152805061	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:152805061G>A	uc010kiw.1	-	c.3850C>T	c.(3850-3852)CGG>TGG	p.R1284W	SYNE1_uc003qot.2_Missense_Mutation_p.R1291W|SYNE1_uc003qou.2_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W|SYNE1_uc003qow.2_Missense_Mutation_p.R579W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1284	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)|ovary(8)|large_intestine(5)|pancreas(2)	30		Ovarian(120;0.0955)												0.401869	120.69937	121.601339	43	64	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	Missense_Mutation	SNP	152805061	152805061	15966	6	G	A	A	38	38	SYNE1	A	1	1
ARID1B	57492	broad.mit.edu	36	6	157264338	157264338	+	Missense_Mutation	SNP	A	C	C			TCGA-14-0817-01	TCGA-14-0817-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:157264338A>C	uc003qqn.1	+	c.1700A>C	c.(1699-1701)TAC>TCC	p.Y567S	ARID1B_uc003qqo.1_Missense_Mutation_p.Y580S|ARID1B_uc003qqp.1_Missense_Mutation_p.Y567S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	625	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)	1		Breast(66;0.000162)|Ovarian(120;0.0265)												0.3	6.758829	7.530455	6	14	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	Missense_Mutation	SNP	157264338	157264338	929	6	A	C	C	14	14	ARID1B	C	4	4
SLC22A2	6582	broad.mit.edu	36	6	160582598	160582598	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:160582598C>T	uc003qte.1	-	c.1399G>A	c.(1399-1401)GTC>ATC	p.V467I	SLC22A2_uc003qtf.1_Missense_Mutation_p.V467I	NM_003058	NP_003049	O15244	S22A2_HUMAN	solute carrier family 22 member 2	467	Helical; (Potential).				body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)												0.486111	108.36143	108.371442	35	37	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Missense_Mutation	SNP	160582598	160582598	14947	6	C	T	T	19	19	SLC22A2	T	1	1
NUP153	9972	broad.mit.edu	36	6	17724318	17724318	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:17724318G>A	uc003ncd.1	-	c.4417C>T	c.(4417-4419)CGC>TGC	p.R1473C	NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	NM_005124	NP_005115	P49790	NU153_HUMAN	nucleoporin 153kDa	1473					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(2)|ovary(1)|skin(1)	4	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)								1004				0.419355	192.54914	193.428652	65	90	GG		KEEP	---	---	---	---	capture	all cancers(50;0.0981)|Epithelial(50;0.112)		Missense_Mutation	SNP	17724318	17724318	11160	6	G	A	A	40	40	NUP153	A	1	1
WRNIP1	56897	broad.mit.edu	36	6	2729558	2729558	+	Silent	SNP	T	G	G			TCGA-14-0817-01	TCGA-14-0817-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:2729558T>G	uc003mtz.1	+	c.1644T>G	c.(1642-1644)GGT>GGG	p.G548G	WRNIP1_uc003mua.1_Silent_p.G523G	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Werner helicase interacting protein isoform 1	548					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)												0.214286	7.620567	9.88229	6	22	TT		KEEP	---	---	---	---	capture			Silent	SNP	2729558	2729558	17977	6	T	G	G	58	58	WRNIP1	G	4	4
SUPT3H	8464	broad.mit.edu	36	6	45030286	45030286	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:45030286C>T	uc003oxo.1	-	c.650G>A	c.(649-651)TGC>TAC	p.C217Y	SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc003oxp.1_Missense_Mutation_p.C206Y	NM_181356	NP_852001	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog isoform 2	288					histone deubiquitination|histone H3 acetylation|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	DNA binding|RNA polymerase II transcription factor activity|transcription activator activity|transcription coactivator activity|transcription initiation factor activity			ovary(2)|breast(1)	3										2				0.381579	150.410531	152.313222	58	94	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	45030286	45030286	15917	6	C	T	T	25	25	SUPT3H	T	2	2
MEP1A	4224	broad.mit.edu	36	6	46869412	46869412	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:46869412G>A	uc010jzh.1	+	c.145G>A	c.(145-147)GCT>ACT	p.A49T		NM_005588	NP_005579	Q16819	MEP1A_HUMAN	meprin A, alpha	49					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			pancreas(2)|ovary(1)	3														0.403509	73.313263	73.777466	23	34	GG		KEEP	---	---	---	---	capture	Lung(136;0.192)		Missense_Mutation	SNP	46869412	46869412	9864	6	G	A	A	35	35	MEP1A	A	2	2
HTR1E	3354	broad.mit.edu	36	6	87781798	87781798	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:87781798G>A	uc003plg.1	+	c.27G>A	c.(25-27)GAG>GAA	p.E9E	HTR1E_uc003plh.1_Silent_p.E9E|HTR1E_uc003pli.1_Silent_p.E9E|HTR1E_uc010kbt.1_Silent_p.E9E	NM_000865	NP_000856	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E	9	Extracellular (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			ovary(2)	2		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)			Eletriptan(DB00216)									0.403509	72.213014	72.677292	23	34	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.055)	Silent	SNP	87781798	87781798	7739	6	G	A	A	35	35	HTR1E	A	2	2
LMOD2	442721	broad.mit.edu	36	7	123089932	123089932	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:123089932G>A	uc003vky.2	+	c.1056G>A	c.(1054-1056)ATG>ATA	p.M352I		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	352						cytoskeleton	actin binding|tropomyosin binding				0														0.273764	188.77552	200.910214	72	191	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	123089932	123089932	9186	7	G	A	A	47	47	LMOD2	A	2	2
TRPV5	56302	broad.mit.edu	36	7	142332804	142332804	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:142332804C>T	uc003wby.1	-	c.1064G>A	c.(1063-1065)CGT>CAT	p.R355H	TRPV5_uc003wbz.2_Missense_Mutation_p.R355H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel,	355	Extracellular (Potential).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R355L(1)|p.R355H(1)		ovary(3)|central_nervous_system(2)	5	Melanoma(164;0.059)													0.209302	57.755461	67.846337	27	102	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	142332804	142332804	17150	7	C	T	T	19	19	TRPV5	T	1	1
OR2A12	346525	broad.mit.edu	36	7	143423741	143423741	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:143423741C>T	uc003wdw.1	+	c.608C>T	c.(607-609)GCG>GTG	p.A203V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	203	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)													0.249406	250.48446	274.517692	105	316	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	143423741	143423741	11381	7	C	T	T	27	27	OR2A12	T	1	1
CALN1	83698	broad.mit.edu	36	7	71126676	71126676	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:71126676C>A	uc003twb.2	-	c.403G>T	c.(403-405)GAT>TAT	p.D135Y	CALN1_uc003twa.2_Missense_Mutation_p.D93Y|CALN1_uc003twc.2_Missense_Mutation_p.D93Y	NM_031468	NP_113656	Q9BXU9	CABP8_HUMAN	calneuron 1 isoform 1	93	2 (Potential).|EF-hand 2.|Cytoplasmic (Potential).					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding				0		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)												0.31	74.495538	77.708001	31	69	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	71126676	71126676	2708	7	C	A	A	30	30	CALN1	A	3	3
ABCB1	5243	broad.mit.edu	36	7	86986633	86986633	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:86986633G>A	uc003uiz.1	-	c.2872C>T	c.(2872-2874)CGG>TGG	p.R958W		NM_000927	NP_000918	P08183	MDR1_HUMAN	ATP-binding cassette, subfamily B, member 1	958	ABC transmembrane type-1 2.					apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)									0.314607	160.330804	165.777272	56	122	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	86986633	86986633	41	7	G	A	A	39	39	ABCB1	A	1	1
PEX1	5189	broad.mit.edu	36	7	91958655	91958655	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:91958655C>A	uc003uly.1	-	c.3305G>T	c.(3304-3306)TGT>TTT	p.C1102F	PEX1_uc010ley.1_Missense_Mutation_p.C1045F	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	1102					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)												0.309392	321.663884	333.383148	112	250	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		Missense_Mutation	SNP	91958655	91958655	12157	7	C	A	A	17	17	PEX1	A	3	3
PHYHIP	9796	broad.mit.edu	36	8	22135136	22135136	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:22135136G>A	uc003xbk.2	-	c.668C>T	c.(667-669)GCG>GTG	p.A223V	PHYHIP_uc003xbj.2_Missense_Mutation_p.A223V	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	223											0														0.37931	28.916356	29.28744	11	18	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)	Missense_Mutation	SNP	22135136	22135136	12290	8	G	A	A	38	38	PHYHIP	A	1	1
SLCO5A1	81796	broad.mit.edu	36	8	70906779	70906779	+	Silent	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:70906779G>A	uc003xyl.1	-	c.684C>T	c.(682-684)AAC>AAT	p.N228N	SLCO5A1_uc010lzb.1_Silent_p.N228N|SLCO5A1_uc003xyk.1_Silent_p.N228N|SLCO5A1_uc010lzc.1_Silent_p.N228N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	228	Extracellular (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)	3	Breast(64;0.0654)													0.464789	96.401378	96.47372	33	38	GG		KEEP	---	---	---	---	capture	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		Silent	SNP	70906779	70906779	15228	8	G	A	A	40	40	SLCO5A1	A	1	1
ZFHX4	79776	broad.mit.edu	36	8	77928994	77928994	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:77928994G>C	uc003yav.1	+	c.7147G>C	c.(7147-7149)GCC>CCC	p.A2383P	ZFHX4_uc003yau.1_Missense_Mutation_p.A2428P|ZFHX4_uc003yaw.1_Missense_Mutation_p.A2383P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	2383	Pro-rich.				regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15														0.375	7.748857	7.848416	3	5	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(89;0.0895)		Missense_Mutation	SNP	77928994	77928994	18223	8	G	C	C	34	34	ZFHX4	C	3	3
KIAA1161	57462	broad.mit.edu	36	9	34362688	34362688	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:34362688G>A	uc003zue.2	-	c.254C>T	c.(253-255)GCG>GTG	p.A85V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	85	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)	2														0.391304	24.978228	25.213172	9	14	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	Missense_Mutation	SNP	34362688	34362688	8519	9	G	A	A	38	38	KIAA1161	A	1	1
KIAA1539	80256	broad.mit.edu	36	9	35098015	35098015	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0817-01	TCGA-14-0817-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:35098015C>T	uc003zwl.1	-	c.257G>A	c.(256-258)GGG>GAG	p.G86E	KIAA1539_uc003zwm.1_Missense_Mutation_p.G86E|KIAA1539_uc003zwn.1_Intron|KIAA1539_uc003zwo.1_Missense_Mutation_p.G86E|KIAA1539_uc003zwp.1_Missense_Mutation_p.G86E|KIAA1539_uc010mkk.1_Intron	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	hypothetical protein LOC80256	86						nucleus				ovary(1)	1	all_epithelial(49;0.217)													0.432203	157.275124	157.732562	51	67	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		Missense_Mutation	SNP	35098015	35098015	8551	9	C	T	T	22	22	KIAA1539	T	2	2
GLUD2	2747	broad.mit.edu	36	X	120010766	120010766	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:120010766G>A	uc004eto.1	+	c.1547G>A	c.(1546-1548)CGT>CAT	p.R516H		NM_012084	NP_036216	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	516					glutamate biosynthetic process|glutamate catabolic process|oxidation-reduction process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			pancreas(1)	1					L-Glutamic Acid(DB00142)|NADH(DB00157)									0.464789	291.528154	291.754477	99	114	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	120010766	120010766	6745	23	G	A	A	40	40	GLUD2	A	1	1
ENOX2	10495	broad.mit.edu	36	X	129587094	129587094	+	Missense_Mutation	SNP	T	G	G			TCGA-14-0817-01	TCGA-14-0817-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:129587094T>G	uc004evw.1	-	c.1708A>C	c.(1708-1710)ACC>CCC	p.T570P	ENOX2_uc004evv.1_Missense_Mutation_p.T395P|ENOX2_uc004evx.1_Missense_Mutation_p.T541P|ENOX2_uc004evy.1_Missense_Mutation_p.T541P	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2 isoform b	570					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			ovary(1)	1						Ovarian(101;828 1506 2951 9500 35258)								0.369048	99.071846	100.34912	31	53	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	129587094	129587094	5320	23	T	G	G	59	59	ENOX2	G	4	4
L1CAM	3897	broad.mit.edu	36	X	152790999	152790999	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0817-01	TCGA-14-0817-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152790999G>A	uc004fjb.1	-	c.202C>T	c.(202-204)CGC>TGC	p.R68C	L1CAM_uc004fjc.1_Missense_Mutation_p.R68C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc010nuo.1_Missense_Mutation_p.R63C|L1CAM_uc004fje.1_Missense_Mutation_p.R63C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	L1 cell adhesion molecule isoform 1 precursor	68	Extracellular (Potential).|Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				ovary(8)|central_nervous_system(1)	9	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.364865	82.308561	83.495781	27	47	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152790999	152790999	8911	23	G	A	A	39	39	L1CAM	A	1	1
PHEX	5251	broad.mit.edu	36	X	22061622	22061622	+	Missense_Mutation	SNP	A	T	T			TCGA-14-0817-01	TCGA-14-0817-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chrX:22061622A>T	uc004dah.1	+	c.1364A>T	c.(1363-1365)GAG>GTG	p.E455V		NM_000444	NP_000435	P78562	PHEX_HUMAN	phosphate-regulating neutral endopeptidase	455	Extracellular (Potential).				biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			ovary(2)|lung(1)	3														0.370861	161.25728	163.471323	56	95	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	22061622	22061622	12242	23	A	T	T	11	11	PHEX	T	4	4
PPP1R12A	4659	broad.mit.edu	36	12	78693829	78693829	+	Splice_Site_Del	DEL	T	-	-			TCGA-14-0817-01	TCGA-14-0817-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:78693829_78693829delT	uc001syz.1	-	c.e25_splice_site			PPP1R12A_uc001sza.1_3'UTR|PPP1R12A_uc001szb.1_3'UTR|PPP1R12A_uc001syy.1_Non-coding_Transcript	NM_002480	NP_002471			protein phosphatase 1, regulatory (inhibitor)							contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7														0.54			7	6				---	---	---	---	capture_indel			Splice_Site_Del	DEL	78693829	78693829	12789	12	T	-	-	56	56	PPP1R12A	-	5	5
TP53	7157	broad.mit.edu	36	17	7518989	7518993	+	Frame_Shift_Del	DEL	GATAA	-	-			TCGA-14-0817-01	TCGA-14-0817-01										Phase_I	Unspecified				Illumina GAIIx	g.chr17:7518989_7518993delGATAA	uc002gim.2	-	c.581_585delTTATC	c.(580-585)CTTATCfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.1_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	194_195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|I -> N (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 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.I195T(58)|p.L194R(27)|p.I195F(15)|p.I195N(11)|p.L194P(8)|p.R196*(7)|p.0?(6)|p.L194H(5)|p.L194L(4)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(2)|p.P191fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*12(1)|p.I195L(1)|p.I195fs*50(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.?(1)|p.I195_G199delIRVEG(1)|p.A189fs*53(1)|p.H193_I195>AP(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)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		Pancreas(47;798 1329 9957 10801)		111	p.L194R(GSS-Tumor)|p.I195S(SNU1077-Tumor)|p.I195T(KYSE180-Tumor)|p.I195F(COV318-Tumor)|p.H193fs(59M-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.69			60	27				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	7518989	7518993	16923	17	GATAA	-	-	41	41	TP53	-	5	5
PRIM2	5558	broad.mit.edu	36	6	57620875	57620876	+	Splice_Site_Ins	INS	-	T	T			TCGA-14-0817-01	TCGA-14-0817-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:57620875_57620876insT	uc003pdx.1	+	c.e16_splice_site				NM_000947	NP_000938			DNA primase polypeptide 2						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding				0				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)										0.50			4	4				---	---	---	---	capture_indel			Splice_Site_Ins	INS	57620875	57620876	12934	6	-	T	T	4	4	PRIM2	T	5	5
USP20	10868	broad.mit.edu	36	9	131665375	131665376	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-14-0817-01	TCGA-14-0817-01										Phase_I	Unspecified				Illumina GAIIx	g.chr9:131665375_131665376delTC	uc004bys.2	+	c.587_588delTC	c.(586-588)GTCfs	p.V196fs	USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	196					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding				0		Ovarian(14;0.00556)												0.33			2	4				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	131665375	131665376	17615	9	TC	-	-	58	58	USP20	-	5	5
SLITRK2	84631	broad.mit.edu	36	X	144711686	144711689	+	Frame_Shift_Del	DEL	ACAG	-	-			TCGA-14-0817-01	TCGA-14-0817-01										Phase_I	Unspecified				Illumina GAIIx	g.chrX:144711686_144711689delACAG	uc004fcc.1	+	c.51_54delACAG	c.(49-54)TTACAGfs	p.L17fs	SLITRK2_uc010nso.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcd.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fce.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.1_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nsp.1_Frame_Shift_Del_p.L17fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	17_18						integral to membrane				ovary(4)|pancreas(1)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.41			39	57				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	144711686	144711689	15241	23	ACAG	-	-	14	14	SLITRK2	-	5	5
