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
FAM178A	55719	broad.mit.edu	36	10	102666861	102666861	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102666861C>T	uc001krs.2	+	c.729C>T	c.(727-729)TAC>TAT	p.Y243Y	FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krt.2_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	243											0														0.552239	114.270714	114.428693	37	30	CC		KEEP	---	---	---	---	capture			Silent	SNP	102666861	102666861	5709	10	C	T	T	20	20	FAM178A	T	2	2
PCGF6	84108	broad.mit.edu	36	10	105098467	105098467	+	Missense_Mutation	SNP	T	C	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr10:105098467T>C	uc001kwt.1	-	c.553A>G	c.(553-555)ATA>GTA	p.I185V	PCGF6_uc001kwu.1_Missense_Mutation_p.I185V|PCGF6_uc009xxk.1_Non-coding_Transcript|PCGF6_uc009xxl.1_Non-coding_Transcript|PCGF6_uc009xxm.1_Non-coding_Transcript	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6 isoform a	185					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)	1		Colorectal(252;0.0747)|Breast(234;0.128)												0.567164	129.55957	129.823257	38	29	TT		KEEP	---	---	---	---	capture		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	Missense_Mutation	SNP	105098467	105098467	11998	10	T	C	C	51	51	PCGF6	C	4	4
GDF2	2658	broad.mit.edu	36	10	48033962	48033962	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:48033962C>T	uc001jfa.1	-	c.912G>A	c.(910-912)ACG>ACA	p.T304T		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	304					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)	2														0.616667	118.690141	119.408616	37	23	CC		KEEP	---	---	---	---	capture			Silent	SNP	48033962	48033962	6582	10	C	T	T	23	23	GDF2	T	1	1
A1CF	29974	broad.mit.edu	36	10	52236586	52236586	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:52236586G>T	uc001jjj.1	-	c.1694C>A	c.(1693-1695)ACC>AAC	p.T565N	A1CF_uc001jji.1_Missense_Mutation_p.T557N|A1CF_uc001jjh.1_Missense_Mutation_p.T565N|A1CF_uc009xov.1_Missense_Mutation_p.T557N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	apobec-1 complementation factor isoform 2	565					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			central_nervous_system(1)	1														0.098039	7.171272	23.668448	10	92	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	52236586	52236586	2	10	G	T	T	44	44	A1CF	T	3	3
CAMK2G	818	broad.mit.edu	36	10	75244802	75244802	+	Missense_Mutation	SNP	C	G	G			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:75244802C>G	uc001jvm.1	-	c.1648G>C	c.(1648-1650)GCC>CCC	p.A550P	CAMK2G_uc001jvo.1_Missense_Mutation_p.A521P|CAMK2G_uc001jvq.1_Missense_Mutation_p.A498P|CAMK2G_uc001jvr.1_Missense_Mutation_p.A489P|CAMK2G_uc001jvp.1_Missense_Mutation_p.A512P|CAMK2G_uc001jvs.1_Missense_Mutation_p.A533P|CAMK2G_uc001jvt.1_Non-coding_Transcript|CAMK2G_uc001jvu.1_Missense_Mutation_p.A490P|CAMK2G_uc009xrp.1_Missense_Mutation_p.A139P	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	552					insulin secretion|interferon-gamma-mediated signaling pathway|protein phosphorylation|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)	1	Prostate(51;0.0112)									423				0.304348	8.652085	9.479693	7	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	75244802	75244802	2719	10	C	G	G	26	26	CAMK2G	G	3	3
PTEN	5728	broad.mit.edu	36	10	89682863	89682863	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89682863C>T	uc001kfb.1	+	c.367C>T	c.(367-369)CAC>TAC	p.H123Y		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	123	Phosphatase tensin-type.		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of cyclin-dependent protein kinase activity|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.H123Y(4)|p.I122fs*2(3)|p.Y27_N212>Y(2)|p.A121_F145del(1)|p.F56fs*2(1)		endometrium(831)|central_nervous_system(654)|skin(119)|haematopoietic_and_lymphoid_tissue(101)|prostate(97)|large_intestine(90)|breast(67)|lung(63)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(21)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(12)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2308		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						31		264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.496063	191.416754	191.418532	63	64	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	Missense_Mutation	SNP	89682863	89682863	13192	10	C	T	T	29	29	PTEN	T	2	2
OR5AR1	219493	broad.mit.edu	36	11	56188102	56188102	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56188102G>A	uc001njc.1	+	c.365G>A	c.(364-366)CGT>CAT	p.R122H		NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0														0.391026	324.935034	328.119649	122	190	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56188102	56188102	11555	11	G	A	A	40	40	OR5AR1	A	1	1
OR56B4	196335	broad.mit.edu	36	11	6085628	6085628	+	Missense_Mutation	SNP	T	A	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:6085628T>A	uc001mcg.1	+	c.44T>A	c.(43-45)ATT>AAT	p.I15N		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)												0.337209	84.152645	86.166415	29	57	TT		KEEP	---	---	---	---	capture		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Missense_Mutation	SNP	6085628	6085628	11548	11	T	A	A	52	52	OR56B4	A	4	4
AHNAK	79026	broad.mit.edu	36	11	62042201	62042201	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:62042201C>T	uc001ntl.1	-	c.16264G>A	c.(16264-16266)GTC>ATC	p.V5422I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5422					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)	14		Melanoma(852;0.155)												0.277457	123.529641	131.237253	48	125	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	62042201	62042201	417	11	C	T	T	19	19	AHNAK	T	1	1
C12orf34	84915	broad.mit.edu	36	12	108690931	108690931	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:108690931G>C	uc001tpd.1	+	c.814G>C	c.(814-816)GCC>CCC	p.A272P	MGC14436_uc001tpe.1_Intron|C12orf34_uc001tpf.1_Missense_Mutation_p.A272P	NM_032829	NP_116218	Q5U5X8	CL034_HUMAN	hypothetical protein LOC84915	272	Pro-rich.									ovary(1)	1														0.363636	6.620979	6.830888	4	7	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	108690931	108690931	1725	12	G	C	C	42	42	C12orf34	C	3	3
TPCN1	53373	broad.mit.edu	36	12	112215201	112215201	+	Silent	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112215201G>C	uc001tux.1	+	c.2409G>C	c.(2407-2409)CGG>CGC	p.R803R	TPCN1_uc001tuw.1_Silent_p.R731R	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	731	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	calcium channel activity|voltage-gated ion channel activity			ovary(1)	1														0.307692	84.76898	88.193435	32	72	GG		KEEP	---	---	---	---	capture			Silent	SNP	112215201	112215201	16939	12	G	C	C	43	43	TPCN1	C	3	3
DHH	50846	broad.mit.edu	36	12	47770010	47770010	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:47770010G>A	uc001rtf.1	-	c.1090C>T	c.(1090-1092)CAC>TAC	p.H364Y		NM_021044	NP_066382	O43323	DHH_HUMAN	desert hedgehog preproprotein	364					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding				0														0.466667	20.022506	20.037115	7	8	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47770010	47770010	4662	12	G	A	A	46	46	DHH	A	2	2
ACVRL1	94	broad.mit.edu	36	12	50599153	50599154	+	Missense_Mutation	DNP	TG	GT	GT			TCGA-14-0813-01	TCGA-14-0813-01										Phase_I	Unspecified				Illumina GAIIx	g.chr12:50599153_50599154TG>GT	uc001rzj.1	+	c.1364_1365TG>GT	c.(1363-1365)CTG>CGT	p.L455R	ACVRL1_uc001rzk.1_Missense_Mutation_p.L455R	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	455	Cytoplasmic (Potential).|Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|protein phosphorylation|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			lung(2)	2					Adenosine triphosphate(DB00171)					321				0.282051	57.215045	60.547076	22	56	TT		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(357;0.0991)	Missense_Mutation	DNP	50599153	50599154	226	12	TG	GT	GT	55	55	ACVRL1	GT	4	4
ELK3	2004	broad.mit.edu	36	12	95165036	95165036	+	Missense_Mutation	SNP	C	G	G			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:95165036C>G	uc001teo.1	+	c.395C>G	c.(394-396)ACG>AGG	p.T132R		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	132					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion|nucleus	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)													0.166667	7.590339	10.114417	4	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	95165036	95165036	5252	12	C	G	G	19	19	ELK3	G	3	3
PRKD1	5587	broad.mit.edu	36	14	29138076	29138076	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:29138076C>T	uc001wqh.1	-	c.2074G>A	c.(2074-2076)GTG>ATG	p.V692M		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	692	Protein kinase.				cell proliferation|intracellular signal transduction|protein phosphorylation|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)									428				0.272727	47.227261	50.296045	18	48	CC		KEEP	---	---	---	---	capture	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	Missense_Mutation	SNP	29138076	29138076	12961	14	C	T	T	19	19	PRKD1	T	1	1
FBN1	2200	broad.mit.edu	36	15	46532163	46532163	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46532163C>A	uc001zwx.1	-	c.5433G>T	c.(5431-5433)GAG>GAT	p.E1811D	FBN1_uc010beo.1_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1811	EGF-like 30; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)								2933				0.308411	90.431645	93.934059	33	74	CC		KEEP	---	---	---	---	capture		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Missense_Mutation	SNP	46532163	46532163	5938	15	C	A	A	20	20	FBN1	A	3	3
VPS13C	54832	broad.mit.edu	36	15	60080066	60080066	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:60080066C>A	uc002agz.1	-	c.1342G>T	c.(1342-1344)GCA>TCA	p.A448S	VPS13C_uc002aha.1_Missense_Mutation_p.A405S|VPS13C_uc002ahb.1_Missense_Mutation_p.A448S|VPS13C_uc002ahc.1_Missense_Mutation_p.A405S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	448					protein localization					ovary(2)	2														0.178571	10.056539	12.780775	5	23	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60080066	60080066	17758	15	C	A	A	28	28	VPS13C	A	3	3
TLN2	83660	broad.mit.edu	36	15	60845852	60845852	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:60845852G>A	uc002alb.2	+	c.5135G>A	c.(5134-5136)GGA>GAA	p.G1712E	TLN2_uc002alc.2_Missense_Mutation_p.G105E|TLN2_uc002ald.2_Missense_Mutation_p.G105E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1712					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cell-cell junction|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(4)|breast(2)	6														0.287129	74.422919	78.47619	29	72	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60845852	60845852	16478	15	G	A	A	41	41	TLN2	A	2	2
RASL12	51285	broad.mit.edu	36	15	63134625	63134625	+	Missense_Mutation	SNP	A	C	C			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr15:63134625A>C	uc002aoi.1	-	c.466T>G	c.(466-468)TTT>GTT	p.F156V	RASL12_uc002aoj.1_Missense_Mutation_p.F137V	NM_016563	NP_057647	Q9NYN1	RASLC_HUMAN	RAS-like, family 12 protein	156					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			skin(1)	1														0.275862	7.019348	8.470141	8	21	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	63134625	63134625	13544	15	A	C	C	2	2	RASL12	C	4	4
SH3GL3	6457	broad.mit.edu	36	15	82036413	82036413	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:82036413C>T	uc002bju.1	+	c.564C>T	c.(562-564)GAC>GAT	p.D188D	SH3GL3_uc002bjv.1_Non-coding_Transcript|SH3GL3_uc002bjw.1_Silent_p.D180D|SH3GL3_uc002bjx.1_Silent_p.D111D	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	180	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|pancreas(1)	2														0.263158	37.698615	40.590734	15	42	CC		KEEP	---	---	---	---	capture			Silent	SNP	82036413	82036413	14744	15	C	T	T	19	19	SH3GL3	T	1	1
CHD2	1106	broad.mit.edu	36	15	91364365	91364365	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:91364365G>A	uc002bsp.1	+	c.5026G>A	c.(5026-5028)GGG>AGG	p.G1676R	CHD2_uc002bso.1_Missense_Mutation_p.G1676R	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1676					chromatin assembly or disassembly|regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	ATP binding|ATP-dependent DNA helicase activity|chromatin binding|DNA binding			ovary(1)	1	Lung NSC(78;0.00976)|all_lung(78;0.016)													0.206897	66.361675	77.912768	30	115	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		Missense_Mutation	SNP	91364365	91364365	3459	15	G	A	A	47	47	CHD2	A	2	2
IL4R	3566	broad.mit.edu	36	16	27271446	27271446	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:27271446C>T	uc002don.1	+	c.598C>T	c.(598-600)CGG>TGG	p.R200W	IL4R_uc002dom.1_Missense_Mutation_p.R200W|IL4R_uc010bxy.1_Missense_Mutation_p.R200W|IL4R_uc002doo.1_Missense_Mutation_p.R40W	NM_000418	NP_000409	P24394	IL4RA_HUMAN	interleukin 4 receptor alpha chain isoform a	200	Extracellular (Potential).|Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			ovary(1)|skin(1)	2														0.503401	222.247262	222.24875	74	73	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27271446	27271446	7999	16	C	T	T	19	19	IL4R	T	1	1
PLCG2	5336	broad.mit.edu	36	16	80512329	80512329	+	Missense_Mutation	SNP	A	C	C			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr16:80512329A>C	uc002fgt.1	+	c.2261A>C	c.(2260-2262)GAC>GCC	p.D754A	PLCG2_uc010chg.1_Missense_Mutation_p.D754A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	phospholipase C, gamma 2	754					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			large_intestine(4)|lung(2)|ovary(1)|skin(1)	8										1880				0.490909	92.722213	92.72618	27	28	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	80512329	80512329	12462	16	A	C	C	10	10	PLCG2	C	4	4
IGF2BP1	10642	broad.mit.edu	36	17	44478714	44478714	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:44478714G>A	uc002iom.1	+	c.1621G>A	c.(1621-1623)GGA>AGA	p.G541R	IGF2BP1_uc010dbj.1_Missense_Mutation_p.G402R	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding	541	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|KH 4.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of cytokine biosynthetic process|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			kidney(1)	1						Esophageal Squamous(198;1041 2123 8248 37119 38268)								0.369369	125.9522	127.614498	41	70	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44478714	44478714	7874	17	G	A	A	39	39	IGF2BP1	A	1	1
CCDC45	90799	broad.mit.edu	36	17	59949431	59949431	+	Missense_Mutation	SNP	T	C	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr17:59949431T>C	uc002jem.1	+	c.865T>C	c.(865-867)TCC>CCC	p.S289P	CCDC45_uc002jen.1_Non-coding_Transcript	NM_138363	NP_612372	Q96GE4	CCD45_HUMAN	coiled-coil domain containing 45	289							protein binding			ovary(1)	1	Breast(5;1.32e-14)													0.318182	6.931245	7.690222	7	15	TT		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		Missense_Mutation	SNP	59949431	59949431	2939	17	T	C	C	54	54	CCDC45	C	4	4
TP53	7157	broad.mit.edu	36	17	7517819	7517819	+	Missense_Mutation	SNP	G	A	A	rs28934574	unknown	TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7517819G>A	uc002gim.2	-	c.844C>T	c.(844-846)CGG>TGG	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.1_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	282	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of 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.R282W(358)|p.R282G(25)|p.0?(6)|p.R282R(3)|p.R282fs*24(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.?(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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	p.R282G(NCIH510-Tumor)|p.R282W(HUPT3-Tumor)|p.V274fs(SCC9-Tumor)|p.R282W(CAL29-Tumor)|p.R282W(EFE184-Tumor)|p.R282W(OVKATE-Tumor)	690	TCGA GBM(1;<1E-8)|TSP Lung(2;<1E-8)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0.363636	93.071415	94.512875	32	56	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Missense_Mutation	SNP	7517819	7517819	16923	17	G	A	A	39	39	TP53	A	1	1
RBBP8	5932	broad.mit.edu	36	18	18827447	18827447	+	Silent	SNP	C	G	G			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:18827447C>G	uc002kua.1	+	c.1659C>G	c.(1657-1659)CCC>CCG	p.P553P	RBBP8_uc002ktw.1_Silent_p.P553P|RBBP8_uc002ktx.1_Silent_p.P553P|RBBP8_uc002kty.1_Silent_p.P553P|RBBP8_uc002ktz.1_Silent_p.P553P	NM_203291	NP_976036	Q99708	COM1_HUMAN	retinoblastoma binding protein 8 isoform a	553					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			ovary(1)|skin(1)	2	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)									470				0.354331	126.030842	128.409211	45	82	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		Silent	SNP	18827447	18827447	13566	18	C	G	G	24	24	RBBP8	G	3	3
PSMA8	143471	broad.mit.edu	36	18	21992208	21992208	+	Splice_Site_SNP	SNP	T	A	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr18:21992208T>A	uc002kvq.1	+	c.495_splice	c.e4+2	p.K165_splice	PSMA8_uc002kvo.1_Splice_Site_SNP_p.K121_splice|PSMA8_uc002kvp.1_Splice_Site_SNP_p.K159_splice|PSMA8_uc002kvr.1_Splice_Site_SNP_p.K133_splice	NM_144662	NP_653263			proteasome (prosome, macropain) subunit, alpha						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			skin(1)	1	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)													0.377863	305.97272	309.398273	99	163	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)		Splice_Site_SNP	SNP	21992208	21992208	13126	18	T	A	A	59	59	PSMA8	A	5	4
SERPINB3	6317	broad.mit.edu	36	18	59474203	59474203	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:59474203C>T	uc002lji.1	-	c.841G>A	c.(841-843)GAT>AAT	p.D281N	SERPINB4_uc002ljg.1_Intron|SERPINB4_uc002ljh.1_Intron|SERPINB3_uc010dqa.1_Missense_Mutation_p.D229N	NM_006919	NP_008850	P29508	SPB3_HUMAN	serine (or cysteine) proteinase inhibitor, clade	281					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|central_nervous_system(1)	2														0.241611	87.355979	96.409855	36	113	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	59474203	59474203	14590	18	C	T	T	31	31	SERPINB3	T	1	1
FARSA	2193	broad.mit.edu	36	19	12902262	12902262	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:12902262C>T	uc002mvs.2	-	c.365G>A	c.(364-366)GGG>GAG	p.G122E	FARSA_uc002mvt.2_Non-coding_Transcript|FARSA_uc010dyy.1_Intron	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	122					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			ovary(1)	1					L-Phenylalanine(DB00120)									0.260116	107.97227	116.962998	45	128	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	12902262	12902262	5915	19	C	T	T	22	22	FARSA	T	2	2
ZNF681	148213	broad.mit.edu	36	19	23719069	23719069	+	Missense_Mutation	SNP	A	C	C			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:23719069A>C	uc002nrk.2	-	c.1123T>G	c.(1123-1125)TTT>GTT	p.F375V	ZNF681_uc002nrl.2_Missense_Mutation_p.F306V|ZNF681_uc002nrj.2_Missense_Mutation_p.F306V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	zinc finger protein 681	375	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)												0.315271	183.640315	189.795503	64	139	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	23719069	23719069	18683	19	A	C	C	3	3	ZNF681	C	4	4
ZNF569	148266	broad.mit.edu	36	19	42597003	42597003	+	Missense_Mutation	SNP	T	C	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:42597003T>C	uc002ogj.1	-	c.469A>G	c.(469-471)AGA>GGA	p.R157G	ZNF569_uc002ogh.1_5'UTR|ZNF569_uc002ogi.1_Missense_Mutation_p.R133G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2														0.454545	177.212836	177.430407	55	66	TT		KEEP	---	---	---	---	capture	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		Missense_Mutation	SNP	42597003	42597003	18595	19	T	C	C	55	55	ZNF569	C	4	4
PRX	57716	broad.mit.edu	36	19	45595023	45595023	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:45595023C>T	uc002onr.1	-	c.1076G>A	c.(1075-1077)CGC>CAC	p.R359H	PRX_uc002onq.1_Missense_Mutation_p.R220H|PRX_uc002ons.1_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	359					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2														0.360902	130.550908	132.820094	48	85	CC		KEEP	---	---	---	---	capture	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		Missense_Mutation	SNP	45595023	45595023	13093	19	C	T	T	27	27	PRX	T	1	1
LMTK3	114783	broad.mit.edu	36	19	53704514	53704514	+	Missense_Mutation	SNP	A	C	C			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:53704514A>C	uc002pjk.1	-	c.517T>G	c.(517-519)TTT>GTT	p.F173V		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)								193				0.4	10.09673	10.184458	4	6	AA		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	Missense_Mutation	SNP	53704514	53704514	9189	19	A	C	C	2	2	LMTK3	C	4	4
SIGLEC8	27181	broad.mit.edu	36	19	56652646	56652646	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:56652646C>T	uc002pwt.1	-	c.614G>A	c.(613-615)CGC>CAC	p.R205H	SIGLEC8_uc010eox.1_Intron|SIGLEC8_uc002pwu.2_Non-coding_Transcript	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	205	Ig-like C2-type 1.|Extracellular (Potential).				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4		all_neural(266;0.0199)												0.391667	124.485082	125.721841	47	73	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	Missense_Mutation	SNP	56652646	56652646	14809	19	C	T	T	27	27	SIGLEC8	T	1	1
NLRP7	199713	broad.mit.edu	36	19	60143455	60143455	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:60143455C>T	uc010esl.1	-	c.628G>A	c.(628-630)GTG>ATG	p.V210M	NLRP7_uc002qig.2_Missense_Mutation_p.V182M|NLRP7_uc002qii.2_Missense_Mutation_p.V182M|NLRP7_uc002qih.2_Missense_Mutation_p.V182M|NLRP7_uc010esk.1_Missense_Mutation_p.V182M	NM_001127255	NP_001120727	Q8WX94	NALP7_HUMAN	NACHT, leucine rich repeat and PYD containing 7	182	NACHT.|ATP (Potential).						ATP binding			large_intestine(1)|breast(1)|central_nervous_system(1)	3														0.333333	205.539373	211.373052	79	158	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(193;0.0325)	Missense_Mutation	SNP	60143455	60143455	10885	19	C	T	T	19	19	NLRP7	T	1	1
USP29	57663	broad.mit.edu	36	19	62333566	62333566	+	Missense_Mutation	SNP	T	A	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:62333566T>A	uc002qny.1	+	c.1711T>A	c.(1711-1713)TCT>ACT	p.S571T	USP29_uc010etu.1_Missense_Mutation_p.S571T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific protease 29	571					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			ovary(2)|breast(2)|pancreas(1)	5		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)												0.265403	134.797398	145.297834	56	155	TT		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	Missense_Mutation	SNP	62333566	62333566	17623	19	T	A	A	62	62	USP29	A	4	4
CRB3	92359	broad.mit.edu	36	19	6415750	6415750	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6415750G>C	uc002mez.1	+	c.38G>C	c.(37-39)GGC>GCC	p.G13A	CRB3_uc002mey.1_Missense_Mutation_p.G13A|CRB3_uc002mfa.1_Missense_Mutation_p.G13A	NM_174881	NP_777377	Q9BUF7	CRUM3_HUMAN	crumbs 3 isoform b precursor	13					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding				0														0.6	6.415954	6.45856	3	2	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6415750	6415750	3989	19	G	C	C	42	42	CRB3	C	3	3
RPS28	6234	broad.mit.edu	36	19	8292862	8292862	+	Missense_Mutation	SNP	C	G	G			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8292862C>G	uc002mjn.1	+	c.113C>G	c.(112-114)ACG>AGG	p.T38R	NDUFA7_uc002mjm.1_5'Flank	NM_001031	NP_001022	P62857	RS28_HUMAN	ribosomal protein S28	38					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome				0														0.2	7.11695	8.372088	3	12	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8292862	8292862	14121	19	C	G	G	19	19	RPS28	G	3	3
MASP2	10747	broad.mit.edu	36	1	11029604	11029604	+	Silent	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:11029604G>A	uc001aru.1	-	c.165C>T	c.(163-165)TAC>TAT	p.Y55Y	MASP2_uc001arv.1_Silent_p.Y55Y|MASP2_uc001arw.2_Silent_p.Y55Y|MASP2_uc001arx.1_Silent_p.Y55Y	NM_006610	NP_006601	O00187	MASP2_HUMAN	mannan-binding lectin serine protease 2 isoform	55	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			ovary(2)|pancreas(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)				GBM(35;611 746 20780 22741 36496)								0.466667	19.623134	19.637659	7	8	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	Silent	SNP	11029604	11029604	9707	1	G	A	A	44	44	MASP2	A	2	2
ARNT	405	broad.mit.edu	36	1	149068203	149068203	+	Missense_Mutation	SNP	T	G	G			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:149068203T>G	uc001evr.1	-	c.1157A>C	c.(1156-1158)TAC>TCC	p.Y386S	ARNT_uc001evs.1_Missense_Mutation_p.Y371S|ARNT_uc009wmb.1_Missense_Mutation_p.Y372S|ARNT_uc009wmc.1_Missense_Mutation_p.Y386S|ARNT_uc009wmd.1_Missense_Mutation_p.Y371S|ARNT_uc009wme.1_Missense_Mutation_p.Y386S	NM_001668	NP_001659	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	386	PAS 2.				mRNA transcription from RNA polymerase II promoter|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of gene-specific transcription|positive regulation of glycolysis|positive regulation of hormone biosynthetic process|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|transcription regulator activity			skin(2)|lung(1)|central_nervous_system(1)|kidney(1)	5	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)									290				0.235294	8.658687	10.978595	8	26	TT		KEEP	---	---	---	---	capture	UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)		Missense_Mutation	SNP	149068203	149068203	983	1	T	G	G	57	57	ARNT	G	4	4
GON4L	54856	broad.mit.edu	36	1	153988942	153988942	+	Missense_Mutation	SNP	A	G	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:153988942A>G	uc001flz.2	-	c.5906T>C	c.(5905-5907)CTC>CCC	p.L1969P	GON4L_uc001fly.1_Missense_Mutation_p.L1968P|GON4L_uc009wrh.1_Missense_Mutation_p.L1968P|GON4L_uc001fma.1_Missense_Mutation_p.L1969P|GON4L_uc001flx.1_5'Flank|GON4L_uc009wrg.1_Non-coding_Transcript	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1969					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)													0.428571	11.509866	11.596495	6	8	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	153988942	153988942	6845	1	A	G	G	11	11	GON4L	G	4	4
INSRR	3645	broad.mit.edu	36	1	155083008	155083008	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:155083008C>T	uc001fqg.1	-	c.1737G>A	c.(1735-1737)ACG>ACA	p.T579T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	insulin receptor-related receptor precursor	579	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			lung(7)|ovary(4)|kidney(1)|central_nervous_system(1)|skin(1)	14	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)									299				0.207317	34.530496	41.042173	17	65	CC		KEEP	---	---	---	---	capture			Silent	SNP	155083008	155083008	8075	1	C	T	T	27	27	INSRR	T	1	1
GORAB	92344	broad.mit.edu	36	1	168778320	168778320	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:168778320C>T	uc001gha.1	+	c.559C>T	c.(559-561)CGT>TGT	p.R187C	GORAB_uc001ggz.2_Missense_Mutation_p.R187C|GORAB_uc001ghb.1_Missense_Mutation_p.R7C|GORAB_uc009wvx.1_Missense_Mutation_p.R7C|GORAB_uc001ghc.1_Missense_Mutation_p.R7C|GORAB_uc001ghd.1_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	187	Potential.					Golgi apparatus|nucleus					0														0.305556	162.477255	169.760836	66	150	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	168778320	168778320	6847	1	C	T	T	19	19	GORAB	T	1	1
PAPPA2	60676	broad.mit.edu	36	1	174792905	174792905	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:174792905G>A	uc001gkz.1	+	c.824G>A	c.(823-825)CGT>CAT	p.R275H	PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.1_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	275					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|lung(1)|breast(1)	14														0.151163	20.014606	30.045139	13	73	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	174792905	174792905	11850	1	G	A	A	40	40	PAPPA2	A	1	1
HMCN1	83872	broad.mit.edu	36	1	184329397	184329397	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:184329397G>A	uc001grq.1	+	c.10169G>A	c.(10168-10170)CGG>CAG	p.R3390Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1	3390	Ig-like C2-type 32.				bioluminescence|protein-chromophore linkage|response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)	22														0.246667	98.226758	106.971997	37	113	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	184329397	184329397	7511	1	G	A	A	39	39	HMCN1	A	1	1
AVPR1B	553	broad.mit.edu	36	1	204391449	204391449	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:204391449C>T	uc001hds.2	+	c.386C>T	c.(385-387)ACG>ATG	p.T129M		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	129	Helical; Name=3; (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.T129M(1)		ovary(2)|large_intestine(1)	3					Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.464286	222.029093	222.215516	78	90	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(75;0.0312)		Missense_Mutation	SNP	204391449	204391449	1253	1	C	T	T	19	19	AVPR1B	T	1	1
CD55	1604	broad.mit.edu	36	1	205566793	205566793	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:205566793C>T	uc001hfp.2	+	c.652C>T	c.(652-654)CCA>TCA	p.P218S	CD55_uc001hfr.2_Missense_Mutation_p.P218S|CD55_uc001hfq.2_Missense_Mutation_p.P218S|CD55_uc001hfs.2_Non-coding_Transcript|CD55_uc009xce.1_Missense_Mutation_p.P218S|CD55_uc001hft.2_Non-coding_Transcript|CD55_uc009xcf.1_Missense_Mutation_p.P154S|CD55_uc009xcg.1_5'UTR	NM_000574	NP_000565	P08174	DAF_HUMAN	decay accelerating factor for complement isoform	218	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction				ovary(1)	1					Chloramphenicol(DB00446)									0.48659	397.213381	397.254255	127	134	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	205566793	205566793	3152	1	C	T	T	26	26	CD55	T	2	2
ENAH	55740	broad.mit.edu	36	1	223773720	223773720	+	Missense_Mutation	SNP	T	C	C			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr1:223773720T>C	uc001hpc.1	-	c.605A>G	c.(604-606)GAA>GGA	p.E202G	ENAH_uc001hpd.1_Missense_Mutation_p.E202G	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	enabled homolog isoform a	202	Potential.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)	1	Breast(184;0.206)													0.233333	8.013427	10.093042	7	23	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(131;0.19)	Missense_Mutation	SNP	223773720	223773720	5304	1	T	C	C	62	62	ENAH	C	4	4
SIPA1L2	57568	broad.mit.edu	36	1	230648056	230648056	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:230648056C>T	uc001hvg.1	-	c.3195G>A	c.(3193-3195)ACG>ACA	p.T1065T	SIPA1L2_uc001hvf.1_Silent_p.T139T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1065					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)												0.527778	330.71809	330.871375	114	102	CC		KEEP	---	---	---	---	capture			Silent	SNP	230648056	230648056	14825	1	C	T	T	19	19	SIPA1L2	T	1	1
OR2L13	284521	broad.mit.edu	36	1	246329504	246329504	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:246329504G>T	uc001ids.1	+	c.204G>T	c.(202-204)ATG>ATT	p.M68I	OR2L13_uc009xha.1_Missense_Mutation_p.M68I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L,	68	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			central_nervous_system(2)|ovary(1)	3	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)									85				0.30504	306.052628	318.854555	115	262	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		Missense_Mutation	SNP	246329504	246329504	11412	1	G	T	T	47	47	OR2L13	T	3	3
ZNF362	149076	broad.mit.edu	36	1	33518493	33518493	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:33518493G>C	uc001bxc.1	+	c.531G>C	c.(529-531)AAG>AAC	p.K177N		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				Pancreas(162;1431 2676 35353 38425)								0.29661	108.681575	113.044968	35	83	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	33518493	33518493	18460	1	G	C	C	33	33	ZNF362	C	3	3
KLF17	128209	broad.mit.edu	36	1	44368072	44368072	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:44368072G>A	uc001clp.1	+	c.542G>A	c.(541-543)GGC>GAC	p.G181D	KLF17_uc009vxf.1_Missense_Mutation_p.G144D	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	zinc finger protein 393	181					regulation of transcription from RNA polymerase II promoter	nucleus	promoter binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)													0.38835	108.364837	109.492745	40	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	44368072	44368072	8657	1	G	A	A	42	42	KLF17	A	2	2
LRRC7	57554	broad.mit.edu	36	1	70261642	70261642	+	Missense_Mutation	SNP	A	T	T			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:70261642A>T	uc001dep.1	+	c.1677A>T	c.(1675-1677)AGA>AGT	p.R559S	LRRC7_uc009wbg.1_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	559						centrosome|focal adhesion|nucleolus	protein binding			ovary(8)|breast(2)|central_nervous_system(2)|liver(1)	13										783				0.351351	143.052215	145.938149	52	96	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70261642	70261642	9396	1	A	T	T	10	10	LRRC7	T	4	4
NEGR1	257194	broad.mit.edu	36	1	72173480	72173480	+	Missense_Mutation	SNP	A	C	C			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:72173480A>C	uc001dfw.1	-	c.279T>G	c.(277-279)ATT>ATG	p.I93M	NEGR1_uc001dfv.1_De_novo_Start_InFrame	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	93	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				ovary(1)	1		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)												0.330769	129.42252	132.752839	43	87	AA		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)	Missense_Mutation	SNP	72173480	72173480	10716	1	A	C	C	1	1	NEGR1	C	4	4
NINL	22981	broad.mit.edu	36	20	25405045	25405045	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:25405045G>A	uc002wux.1	-	c.2882C>T	c.(2881-2883)CCC>CTC	p.P961L	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	961					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.307692	52.278381	54.419918	20	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	25405045	25405045	10821	20	G	A	A	43	43	NINL	A	2	2
PPP1R16B	26051	broad.mit.edu	36	20	36980670	36980670	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:36980670G>A	uc002xje.1	+	c.1651G>A	c.(1651-1653)GCC>ACC	p.A551T	PPP1R16B_uc010ggc.1_Missense_Mutation_p.A509T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	551	ANK 5.				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			kidney(1)	1		Myeloproliferative disorder(115;0.00878)												0.383562	77.605377	78.464502	28	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36980670	36980670	12801	20	G	A	A	42	42	PPP1R16B	A	2	2
BMP7	655	broad.mit.edu	36	20	55210944	55210944	+	Silent	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr20:55210944G>A	uc010gip.1	-	c.754C>T	c.(754-756)CTG>TTG	p.L252L	BMP7_uc010giq.1_Silent_p.L252L|BMP7_uc002xyc.2_Silent_p.L252L	NM_001719	NP_001710	P18075	BMP7_HUMAN	bone morphogenetic protein 7 precursor	252					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of gene-specific transcription|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity				0	all_lung(29;0.0133)|Melanoma(10;0.242)													0.487805	60.396095	60.401467	20	21	GG		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		Silent	SNP	55210944	55210944	1490	20	G	A	A	34	34	BMP7	A	2	2
MRAP	56246	broad.mit.edu	36	21	32606017	32606017	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr21:32606017G>C	uc002ypj.1	+	c.358G>C	c.(358-360)GAC>CAC	p.D120H	MRAP_uc010glv.1_Non-coding_Transcript|MRAP_uc002ypk.1_Intron|MRAP_uc002ypl.1_Missense_Mutation_p.D120H	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	120	Extracellular (Potential).				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	adrenocorticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding				0														0.186441	14.16329	19.64168	11	48	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	32606017	32606017	10145	21	G	C	C	45	45	MRAP	C	3	3
CLTCL1	8218	broad.mit.edu	36	22	17568877	17568877	+	Missense_Mutation	SNP	T	G	G			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr22:17568877T>G	uc002zpb.1	-	c.3728A>C	c.(3727-3729)AAC>ACC	p.N1243T	CLTCL1_uc002zpc.1_Non-coding_Transcript|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpd.1_Missense_Mutation_p.N150T|CLTCL1_uc002zpe.1_Missense_Mutation_p.T203P	NM_007098	NP_009029	P53675	CLH2_HUMAN	clathrin, heavy polypeptide-like 1	1243	Involved in binding clathrin light chain (By similarity).|Proximal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)								p.N1243S(HEC108-Tumor)	1206				0.384615	12.457253	12.852086	10	16	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	17568877	17568877	3705	22	T	G	G	60	60	CLTCL1	G	4	4
CACNG2	10369	broad.mit.edu	36	22	35313457	35313457	+	Splice_Site_SNP	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:35313457C>T	uc003aps.1	-	c.295_splice	c.e2+1	p.R99_splice		NM_006078	NP_006069			voltage-dependent calcium channel gamma-2						membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0														0.336842	171.732925	176.211021	64	126	CC		KEEP	---	---	---	---	capture			Splice_Site_SNP	SNP	35313457	35313457	2673	22	C	T	T	19	19	CACNG2	T	5	1
IL18R1	8809	broad.mit.edu	36	2	102350822	102350822	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:102350822G>T	uc002tbw.2	+	c.164G>T	c.(163-165)AGC>ATC	p.S55I	IL18R1_uc010fiy.1_Missense_Mutation_p.S55I	NM_003855	NP_003846	Q13478	IL18R_HUMAN	interleukin 18 receptor 1 precursor	55	Ig-like C2-type 1.|Extracellular (Potential).				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			ovary(2)|pancreas(1)	3														0.401869	124.299916	125.201964	43	64	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	102350822	102350822	7948	2	G	T	T	34	34	IL18R1	T	3	3
NBAS	51594	broad.mit.edu	36	2	15334609	15334609	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:15334609G>T	uc002rcc.1	-	c.5206C>A	c.(5206-5208)CCA>ACA	p.P1736T	NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	neuroblastoma-amplified protein	1736										ovary(2)|liver(1)	3														0.271429	45.491472	48.792104	19	51	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	15334609	15334609	10582	2	G	T	T	41	41	NBAS	T	3	3
SCN7A	6332	broad.mit.edu	36	2	166971312	166971312	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	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														0.376712	155.886503	157.835143	55	91	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	166971312	166971312	14405	2	C	T	T	19	19	SCN7A	T	1	1
ITGA6	3655	broad.mit.edu	36	2	173047216	173047216	+	Silent	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:173047216G>A	uc002uhp.1	+	c.963G>A	c.(961-963)GCG>GCA	p.A321A	ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	integrin alpha chain, alpha 6 isoform a	360	FG-GAP 5.|Extracellular (Potential).				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of apoptosis	integrin complex	protein binding|receptor activity			ovary(1)|lung(1)	2														0.380952	74.6856	75.468586	24	39	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		Silent	SNP	173047216	173047216	8184	2	G	A	A	39	39	ITGA6	A	1	1
OR6B2	389090	broad.mit.edu	36	2	240618388	240618388	+	Silent	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:240618388G>T	uc002vyr.2	-	c.132C>A	c.(130-132)GCC>GCA	p.A44A	OR6B2_uc002vyq.2_Silent_p.A44A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	44	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)												0.205882	123.241222	145.065295	56	216	GG		KEEP	---	---	---	---	capture		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)	Silent	SNP	240618388	240618388	11598	2	G	T	T	47	47	OR6B2	T	3	3
ASXL2	55252	broad.mit.edu	36	2	25819422	25819422	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25819422C>T	uc002rgs.2	-	c.3288G>A	c.(3286-3288)CAG>CAA	p.Q1096Q	ASXL2_uc002rgt.1_Silent_p.Q579Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	additional sex combs like 2	1096					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.3	168.241934	175.378138	60	140	CC		KEEP	---	---	---	---	capture			Silent	SNP	25819422	25819422	1086	2	C	T	T	28	28	ASXL2	T	2	2
CYP1B1	1545	broad.mit.edu	36	2	38155511	38155511	+	Silent	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:38155511G>C	uc002rqo.2	-	c.525C>G	c.(523-525)CGC>CGG	p.R175R		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B,	175					oxidation-reduction process|visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			ovary(1)|central_nervous_system(1)	2		all_hematologic(82;0.21)			Estrone(DB00655)					68				0.272727	6.480316	6.9563	3	8	GG		KEEP	---	---	---	---	capture			Silent	SNP	38155511	38155511	4316	2	G	C	C	38	38	CYP1B1	C	3	3
POLQ	10721	broad.mit.edu	36	3	122689612	122689612	+	Missense_Mutation	SNP	T	G	G			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:122689612T>G	uc003eee.2	-	c.4856A>C	c.(4855-4857)AAA>ACA	p.K1619T	POLQ_uc003eed.1_Missense_Mutation_p.K791T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	1619					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity			ovary(4)|skin(1)	5						Pancreas(152;907 1925 26081 31236 36904)								0.389362	617.020214	622.059763	183	287	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(114;0.0915)	Missense_Mutation	SNP	122689612	122689612	12636	3	T	G	G	64	64	POLQ	G	4	4
EPHB1	2047	broad.mit.edu	36	3	136334575	136334575	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:136334575C>A	uc003eqt.1	+	c.1291C>A	c.(1291-1293)CAA>AAA	p.Q431K	EPHB1_uc010htz.1_Non-coding_Transcript|EPHB1_uc003equ.1_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	ephrin receptor EphB1 precursor	431	Fibronectin type-III 2.|Extracellular (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			lung(7)|ovary(4)|stomach(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1)	18										376				0.236842	7.048554	9.687928	9	29	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	136334575	136334575	5367	3	C	A	A	21	21	EPHB1	A	3	3
MCF2L2	23101	broad.mit.edu	36	3	184379922	184379922	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr3:184379922C>T	uc003fli.1	-	c.3285G>A	c.(3283-3285)GGG>GGA	p.G1095G		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Rho family guanine-nucleotide exchange factor	1095					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(1)|breast(1)	4	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)													0.208333	12.161546	14.052297	5	19	CC		KEEP	---	---	---	---	capture	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		Silent	SNP	184379922	184379922	9769	3	C	T	T	22	22	MCF2L2	T	2	2
CHL1	10752	broad.mit.edu	36	3	399158	399158	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:399158G>T	uc003bot.1	+	c.1980G>T	c.(1978-1980)GAG>GAT	p.E660D	CHL1_uc003bou.1_Missense_Mutation_p.E644D|CHL1_uc003bow.1_Missense_Mutation_p.E644D	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	644	Fibronectin type-III 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				central_nervous_system(4)|large_intestine(2)|ovary(1)	7		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)							p.E660D(DKMG-Tumor)	659				0.27	137.542084	147.102051	54	146	GG		KEEP	---	---	---	---	capture		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	Missense_Mutation	SNP	399158	399158	3483	3	G	T	T	36	36	CHL1	T	3	3
SLC39A8	64116	broad.mit.edu	36	4	103403260	103403260	+	Silent	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:103403260G>A	uc003hwb.1	-	c.1347C>T	c.(1345-1347)CTC>CTT	p.L449L	SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.1_Silent_p.L449L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter),	449	Helical; (Potential).					integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(203;0.217)												0.212121	76.12534	88.773545	35	130	GG		KEEP	---	---	---	---	capture		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)	Silent	SNP	103403260	103403260	15121	4	G	A	A	45	45	SLC39A8	A	2	2
EGF	1950	broad.mit.edu	36	4	111100014	111100014	+	Silent	SNP	C	A	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:111100014C>A	uc003hzy.2	+	c.1038C>A	c.(1036-1038)GCC>GCA	p.A346A		NM_001963	NP_001954	P01133	EGF_HUMAN	epidermal growth factor (beta-urogastrone)	346	EGF-like 1.|Extracellular (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			central_nervous_system(1)	1		Hepatocellular(203;0.0893)			Sulindac(DB00605)					724				0.306569	112.494622	117.067701	42	95	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Silent	SNP	111100014	111100014	5151	4	C	A	A	22	22	EGF	A	3	3
TMEM155	132332	broad.mit.edu	36	4	122900921	122900921	+	Missense_Mutation	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:122900921G>T	uc003idx.1	-	c.371C>A	c.(370-372)ACT>AAT	p.T124N	TMEM155_uc003idy.1_Missense_Mutation_p.T124N	NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	transmembrane protein 155	124						extracellular region					0														0.178571	7.689195	10.392291	5	23	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	122900921	122900921	16605	4	G	T	T	36	36	TMEM155	T	3	3
TBC1D9	23158	broad.mit.edu	36	4	141797815	141797815	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:141797815C>T	uc010ioj.1	-	c.2223G>A	c.(2221-2223)GTG>GTA	p.V741V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	741						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)												0.37963	112.242775	113.617672	41	67	CC		KEEP	---	---	---	---	capture			Silent	SNP	141797815	141797815	16153	4	C	T	T	29	29	TBC1D9	T	2	2
POU4F2	5458	broad.mit.edu	36	4	147779967	147779967	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:147779967C>T	uc003ikv.1	+	c.225C>T	c.(223-225)AGC>AGT	p.S75S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	75	Poly-Ser.				negative regulation of transcription from RNA polymerase II promoter	nuclear speck	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity			breast(1)	1	all_hematologic(180;0.151)													0.25	6.620002	7.30142	3	9	CC		KEEP	---	---	---	---	capture			Silent	SNP	147779967	147779967	12709	4	C	T	T	25	25	POU4F2	T	2	2
PCDH7	5099	broad.mit.edu	36	4	30333294	30333294	+	Silent	SNP	G	T	T			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:30333294G>T	uc010iez.1	+	c.1011G>T	c.(1009-1011)ACG>ACT	p.T337T	PCDH7_uc003gsj.1_Silent_p.T384T|PCDH7_uc003gsk.1_Silent_p.T384T	NM_032457	NP_115833	O60245	PCDH7_HUMAN	protocadherin 7 isoform c precursor	384	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4														0.345238	79.253285	81.028093	29	55	GG		KEEP	---	---	---	---	capture			Silent	SNP	30333294	30333294	11936	4	G	T	T	39	39	PCDH7	T	3	3
MOBKL1A	92597	broad.mit.edu	36	4	72066605	72066605	+	Silent	SNP	A	G	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr4:72066605A>G	uc003hfw.1	+	c.618A>G	c.(616-618)GAA>GAG	p.E206E		NM_173468	NP_775739	Q7L9L4	MOL1A_HUMAN	MOB1, Mps One Binder kinase activator-like 1A	206					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding				0		all_hematologic(202;0.21)												0.393443	80.78993	81.395386	24	37	AA		KEEP	---	---	---	---	capture	Lung(101;0.235)		Silent	SNP	72066605	72066605	10073	4	A	G	G	2	2	MOBKL1A	G	4	4
DRD5	1816	broad.mit.edu	36	4	9393604	9393604	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:9393604C>T	uc003gmb.2	+	c.853C>T	c.(853-855)CGC>TGC	p.R285C		NM_000798	NP_000789	P21918	DRD5_HUMAN	dopamine receptor D5	285	Cytoplasmic (Potential).				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane					0					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)									0.327586	152.225151	156.8073	57	117	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	9393604	9393604	4944	4	C	T	T	27	27	DRD5	T	1	1
C5orf25	375484	broad.mit.edu	36	5	175649804	175649804	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:175649804G>A	uc010jka.1	+	c.671G>A	c.(670-672)CGA>CAA	p.R224Q	C5orf25_uc003mdr.2_Intron|C5orf25_uc003mds.2_Missense_Mutation_p.R205Q|C5orf25_uc003mdt.2_Intron|C5orf25_uc010jkb.1_Missense_Mutation_p.R205Q	NM_198567	NP_940969	Q8NDZ2	CE025_HUMAN	hypothetical protein LOC375484	205	Pro-rich.										0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)												0.425532	56.702192	56.926842	20	27	GG		KEEP	---	---	---	---	capture	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	Missense_Mutation	SNP	175649804	175649804	2386	5	G	A	A	37	37	C5orf25	A	1	1
HK3	3101	broad.mit.edu	36	5	176243668	176243668	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:176243668C>T	uc003mfa.1	-	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	HK3_uc003mez.1_Missense_Mutation_p.R200Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	644	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|breast(1)	5	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)												0.317919	145.60977	150.684749	55	118	CC		KEEP	---	---	---	---	capture	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Missense_Mutation	SNP	176243668	176243668	7483	5	C	T	T	23	23	HK3	T	1	1
SIM1	6492	broad.mit.edu	36	6	100945643	100945643	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr6:100945643G>C	uc003pqj.2	-	c.1616C>G	c.(1615-1617)CCT>CGT	p.P539R	SIM1_uc010kct.1_Missense_Mutation_p.P539R|SIM1_uc010kcu.1_Missense_Mutation_p.P539R	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	539	Single-minded C-terminal.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(4)	4		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)												0.290123	119.948713	126.350426	47	115	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0774)	Missense_Mutation	SNP	100945643	100945643	14818	6	G	C	C	35	35	SIM1	C	3	3
AIM1	202	broad.mit.edu	36	6	107075347	107075347	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:107075347C>T	uc003prh.1	+	c.2347C>T	c.(2347-2349)CGT>TGT	p.R783C		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	783							sugar binding			breast(4)|ovary(2)|large_intestine(1)	7	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)							p.R783C(JHH7-Tumor)|p.R783C(PC14-Tumor)|p.R783C(SNU475-Tumor)	659				0.356436	98.568261	100.403331	36	65	CC		KEEP	---	---	---	---	capture	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	Missense_Mutation	SNP	107075347	107075347	433	6	C	T	T	19	19	AIM1	T	1	1
TCTE1	202500	broad.mit.edu	36	6	44363376	44363376	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:44363376C>T	uc003oxi.1	-	c.165G>A	c.(163-165)AGG>AGA	p.R55R	SPATS1_uc003oxg.1_Intron|TMEM151B_uc003oxf.1_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	t-complex-associated testis expressed 1	55										ovary(2)	2	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)													0.351562	134.368812	136.841982	45	83	CC		KEEP	---	---	---	---	capture	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Silent	SNP	44363376	44363376	16243	6	C	T	T	22	22	TCTE1	T	2	2
C6orf138	442213	broad.mit.edu	36	6	47954119	47954119	+	Missense_Mutation	SNP	A	G	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr6:47954119A>G	uc003oze.2	-	c.2369T>C	c.(2368-2370)CTA>CCA	p.L790P		NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	807	Helical; (Potential).					integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1														0.326316	197.889031	202.971135	62	128	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	47954119	47954119	2435	6	A	G	G	15	15	C6orf138	G	4	4
LMBRD1	55788	broad.mit.edu	36	6	70468094	70468094	+	Missense_Mutation	SNP	T	A	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr6:70468094T>A	uc003pfa.1	-	c.1045A>T	c.(1045-1047)AGT>TGT	p.S349C	LMBRD1_uc003pez.1_Missense_Mutation_p.S276C|LMBRD1_uc010kal.1_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.1_Non-coding_Transcript|LMBRD1_uc003pey.1_Missense_Mutation_p.S145C	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	349	Extracellular (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1														0.254545	34.822692	37.830377	14	41	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70468094	70468094	9171	6	T	A	A	54	54	LMBRD1	A	4	4
MET	4233	broad.mit.edu	36	7	116185844	116185844	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:116185844C>A	uc010lkh.1	+	c.2198C>A	c.(2197-2199)ACA>AAA	p.T733K	MET_uc003vij.1_Missense_Mutation_p.T733K	NM_001127500	NP_001120972	P08581	MET_HUMAN	met proto-oncogene isoform a precursor	733	Extracellular (Potential).|IPT/TIG 2.				axon guidance|cell proliferation|protein phosphorylation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			upper_aerodigestive_tract(63)|lung(41)|kidney(18)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|NS(3)|large_intestine(2)|testis(1)|breast(1)	148	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)								299				0.248366	95.272169	104.086901	38	115	CC		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		Missense_Mutation	SNP	116185844	116185844	9874	7	C	A	A	17	17	MET	A	3	3
HOXA9	3205	broad.mit.edu	36	7	27171306	27171306	+	Missense_Mutation	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:27171306G>A	uc003syt.1	-	c.296C>T	c.(295-297)GCG>GTG	p.A99V		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	99					regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription activator activity			central_nervous_system(1)	1										22				0.269231	32.925579	35.426019	14	38	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27171306	27171306	7590	7	G	A	A	38	38	HOXA9	A	1	1
SCRIB	23513	broad.mit.edu	36	8	144959551	144959551	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:144959551C>T	uc003yzo.1	-	c.2389G>A	c.(2389-2391)GTG>ATG	p.V797M	SCRIB_uc003yzp.1_Missense_Mutation_p.V797M|SCRIB_uc003yzn.1_5'Flank	NM_182706	NP_874365	Q14160	SCRIB_HUMAN	scribble isoform a	797	PDZ 1.|Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)					Pancreas(51;966 1133 10533 14576 29674)			p.V797M(KOPN8-Tumor)	520				0.4	11.097606	11.185139	4	6	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		Missense_Mutation	SNP	144959551	144959551	14419	8	C	T	T	19	19	SCRIB	T	1	1
MSR1	4481	broad.mit.edu	36	8	16066109	16066109	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:16066109C>T	uc010lsu.1	-	c.707G>A	c.(706-708)CGT>CAT	p.R236H	MSR1_uc003wwz.1_Missense_Mutation_p.R218H|MSR1_uc003wxa.1_Missense_Mutation_p.R218H|MSR1_uc003wxb.1_Missense_Mutation_p.R218H	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	218	Potential.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1														0.458333	65.346534	65.418786	22	26	CC		KEEP	---	---	---	---	capture		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	Missense_Mutation	SNP	16066109	16066109	10279	8	C	T	T	19	19	MSR1	T	1	1
GFRA2	2675	broad.mit.edu	36	8	21604765	21604765	+	Silent	SNP	G	A	A			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:21604765G>A	uc003wzu.1	-	c.1050C>T	c.(1048-1050)AAC>AAT	p.N350N	GFRA2_uc003wzv.1_Silent_p.N245N|GFRA2_uc003wzw.1_Silent_p.N217N	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 preproprotein	350					transmembrane receptor protein tyrosine kinase signaling pathway	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell line-derived neurotrophic factor receptor activity				0														0.538462	20.52473	20.541369	7	6	GG		KEEP	---	---	---	---	capture		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	Silent	SNP	21604765	21604765	6616	8	G	A	A	40	40	GFRA2	A	1	1
ZNF395	55893	broad.mit.edu	36	8	28266674	28266674	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr8:28266674C>T	uc003xgq.1	-	c.754G>A	c.(754-756)GAT>AAT	p.D252N	ZNF395_uc003xgt.1_Missense_Mutation_p.D252N|ZNF395_uc003xgr.1_Missense_Mutation_p.D252N|ZNF395_uc003xgs.1_Missense_Mutation_p.D252N	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding				0		Ovarian(32;2.06e-05)												0.409836	69.759769	70.193913	25	36	CC		KEEP	---	---	---	---	capture		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)	Missense_Mutation	SNP	28266674	28266674	18474	8	C	T	T	29	29	ZNF395	T	2	2
ABCA2	20	broad.mit.edu	36	9	139030953	139030953	+	Silent	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr9:139030953G>C	uc004ckm.1	-	c.2907C>G	c.(2905-2907)GGC>GGG	p.G969G	ABCA2_uc010nby.1_Silent_p.G869G|ABCA2_uc010nbz.1_Silent_p.G939G|ABCA2_uc004ckl.1_Silent_p.G869G|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	938					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|lysosomal membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)												0.227273	7.372159	8.881572	5	17	GG		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	Silent	SNP	139030953	139030953	33	9	G	C	C	46	46	ABCA2	C	3	3
NFIB	4781	broad.mit.edu	36	9	14145894	14145894	+	Splice_Site_SNP	SNP	T	A	A			TCGA-14-0813-01	TCGA-14-0813-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr9:14145894T>A	uc003zlf.1	-	c.617_splice	c.e4-1	p.G206_splice	NFIB_uc003zld.1_Splice_Site_SNP|NFIB_uc003zle.1_Splice_Site_SNP_p.G206_splice	NM_005596	NP_005587			nuclear factor I/B						DNA replication	nucleolus	sequence-specific DNA binding transcription factor activity				0						Esophageal Squamous(132;921 1730 14828 40753 46471)								0.71875	81.039308	82.415982	23	9	TT		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	Splice_Site_SNP	SNP	14145894	14145894	10771	9	T	A	A	55	55	NFIB	A	5	4
ADAMTSL1	92949	broad.mit.edu	36	9	18767209	18767209	+	Silent	SNP	C	G	G			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:18767209C>G	uc003zne.2	+	c.2982C>G	c.(2980-2982)ACC>ACG	p.T994T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	994						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|lung(1)	4														0.617647	69.779895	70.191903	21	13	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(50;1.29e-17)	Silent	SNP	18767209	18767209	275	9	C	G	G	22	22	ADAMTSL1	G	3	3
FAM108B1	51104	broad.mit.edu	36	9	73674900	73674900	+	Missense_Mutation	SNP	A	G	G			TCGA-14-0813-01	TCGA-14-0813-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:73674900A>G	uc004ail.1	-	c.566T>C	c.(565-567)ATT>ACT	p.I189T	FAM108B1_uc004aim.1_Missense_Mutation_p.I189T	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	family with sequence similarity 108, member B1	189					proteolysis	extracellular region	serine-type peptidase activity				0														0.367925	254.600367	257.849168	78	134	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	73674900	73674900	5589	9	A	G	G	4	4	FAM108B1	G	4	4
TMC1	117531	broad.mit.edu	36	9	74596730	74596730	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr9:74596730C>T	uc004aiz.1	+	c.1333C>T	c.(1333-1335)CGC>TGC	p.R445C	TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	445	Helical; (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1						Pancreas(75;173 1345 14232 34245 43413)								0.342776	331.679308	339.33537	121	232	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	74596730	74596730	16514	9	C	T	T	19	19	TMC1	T	1	1
SMARCA1	6594	broad.mit.edu	36	X	128485000	128485000	+	Missense_Mutation	SNP	G	C	C			TCGA-14-0813-01	TCGA-14-0813-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:128485000G>C	uc004eun.2	-	c.29C>G	c.(28-30)GCC>GGC	p.A10G	SMARCA1_uc004eup.2_Missense_Mutation_p.A10G	NM_003069	NP_003060	P28370	SMCA1_HUMAN	SWI/SNF-related matrix-associated	10					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of gene-specific transcription|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding|transcription regulator activity			ovary(3)|skin(1)	4														0.3	8.010053	8.82002	6	14	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128485000	128485000	15266	23	G	C	C	42	42	SMARCA1	C	3	3
AFF2	2334	broad.mit.edu	36	X	147551675	147551675	+	Silent	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:147551675C>T	uc004fcp.1	+	c.735C>T	c.(733-735)GCC>GCT	p.A245A	AFF2_uc004fcq.1_Silent_p.A241A|AFF2_uc004fcr.1_Silent_p.A241A|AFF2_uc004fcs.1_Silent_p.A241A|AFF2_uc004fco.2_Silent_p.A241A	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	245					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)													0.145161	62.279277	92.281979	36	212	CC		KEEP	---	---	---	---	capture			Silent	SNP	147551675	147551675	358	23	C	T	T	23	23	AFF2	T	1	1
MAGEA12	4111	broad.mit.edu	36	X	151651176	151651176	+	Missense_Mutation	SNP	C	A	A			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:151651176C>A	uc010ntp.1	-	c.281G>T	c.(280-282)GGG>GTG	p.G94V	MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.1_Missense_Mutation_p.G94V|MAGEA12_uc010ntq.1_Missense_Mutation_p.G94V|CSAG1_uc004fge.1_5'Flank|CSAG1_uc004fgf.1_5'Flank|CSAG1_uc004fgd.1_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	94											0	Acute lymphoblastic leukemia(192;6.56e-05)													0.73913	317.702178	324.85661	102	36	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	151651176	151651176	9543	23	C	A	A	22	22	MAGEA12	A	3	3
ARHGAP4	393	broad.mit.edu	36	X	152837511	152837511	+	Missense_Mutation	SNP	C	T	T			TCGA-14-0813-01	TCGA-14-0813-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152837511C>T	uc004fjl.1	-	c.1121G>A	c.(1120-1122)CGC>CAC	p.R374H	ARHGAP4_uc004fjk.1_Missense_Mutation_p.R334H|ARHGAP4_uc010nup.1_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	334					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(1)	1	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)													0.616667	224.200871	225.651203	74	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152837511	152837511	897	23	C	T	T	27	27	ARHGAP4	T	1	1
AKD1	221264	broad.mit.edu	36	6	110099820	110099820	+	Frame_Shift_Del	DEL	T	-	-			TCGA-14-0813-01	TCGA-14-0813-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:110099820_110099820delT	uc003ptr.2	-	c.326_326delA	c.(325-327)CACfs	p.H109fs	AKD1_uc003pts.1_Non-coding_Transcript	NM_145025	NP_659462	Q5TCS8	AKD1_HUMAN	hypothetical protein LOC221264 isoform 2	109					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			ovary(1)	1														0.39			42	65				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	110099820	110099820	463	6	T	-	-	59	59	AKD1	-	5	5
RFX6	222546	broad.mit.edu	36	6	117310241	117310241	+	Frame_Shift_Del	DEL	C	-	-			TCGA-14-0813-01	TCGA-14-0813-01										Phase_I	Unspecified				Illumina GAIIx	g.chr6:117310241_117310241delC	uc003pxm.1	+	c.523_523delC	c.(523-525)CCCfs	p.P175fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	175	RFX-type winged-helix.				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	promoter binding|protein binding|transcription activator activity			ovary(1)|pancreas(1)	2														0.31			29	66				---	---	---	---	capture_indel			Frame_Shift_Del	DEL	117310241	117310241	13739	6	C	-	-	30	30	RFX6	-	5	5
