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
SMC3	9126	broad.mit.edu	36	10	112340778	112340778	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:112340778G>A	uc001kze.1	+	c.1710G>A	c.(1708-1710)ACG>ACA	p.T570T		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	570	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)	2		Breast(234;0.0848)|Lung NSC(174;0.238)												0.836735	141.606697	146.887701	41	8	GG		KEEP	---	---	---	---	capture		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	Silent	SNP	112340778	112340778	15282	10	G	A	A	37	37	SMC3	A	1	1
PTEN	5728	broad.mit.edu	36	10	89701987	89701987	+	Nonsense_Mutation	SNP	G	T	T			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89701987G>T	uc001kfb.1	+	c.625G>T	c.(625-627)GGA>TGA	p.G209*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	209	C2 tensin-type.				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.G165fs*9(3)|p.Y27_N212>Y(2)|p.G165_*404del(1)|p.G165_K342del(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)			0.781022	371.46464	381.418327	107	30	GG		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)	Nonsense_Mutation	SNP	89701987	89701987	13192	10	G	T	T	39	39	PTEN	T	5	3
OR10G8	219869	broad.mit.edu	36	11	123405901	123405901	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:123405901G>A	uc001pzp.1	+	c.362G>A	c.(361-363)CGC>CAC	p.R121H		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	121	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)												0.418605	313.463719	314.951801	108	150	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	Missense_Mutation	SNP	123405901	123405901	11309	11	G	A	A	38	38	OR10G8	A	1	1
TRIM44	54765	broad.mit.edu	36	11	35704107	35704107	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:35704107G>A	uc001mwi.1	+	c.807G>A	c.(805-807)GTG>GTA	p.V269V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	DIPB protein	269						intracellular	protein binding|zinc ion binding				0	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)												0.606061	128.109781	128.758696	40	26	GG		KEEP	---	---	---	---	capture			Silent	SNP	35704107	35704107	17064	11	G	A	A	45	45	TRIM44	A	2	2
PRPF19	27339	broad.mit.edu	36	11	60422285	60422285	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:60422285G>A	uc001nqf.1	-	c.1175C>T	c.(1174-1176)TCG>TTG	p.S392L		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	PRP19/PSO4 pre-mRNA processing factor 19	392	WD 5.				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1														0.425743	128.510475	128.995729	43	58	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	60422285	60422285	13007	11	G	A	A	37	37	PRPF19	A	1	1
HEPHL1	341208	broad.mit.edu	36	11	93418628	93418628	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:93418628G>A	uc001pep.2	+	c.312G>A	c.(310-312)TTG>TTA	p.L104L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	104	Plastocyanin-like 1.|Extracellular (Potential).				copper ion transport|oxidation-reduction process	integral to membrane	copper ion binding|oxidoreductase activity			ovary(3)	3		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)												0.493671	115.315561	115.318433	39	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	93418628	93418628	7338	11	G	A	A	45	45	HEPHL1	A	2	2
KRT78	196374	broad.mit.edu	36	12	51519973	51519973	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:51519973G>A	uc001sbc.1	-	c.1110C>T	c.(1108-1110)GAC>GAT	p.D370D		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	keratin 5b	370	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			ovary(2)	2														0.384615	69.976687	70.728657	25	40	GG		KEEP	---	---	---	---	capture			Silent	SNP	51519973	51519973	8806	12	G	A	A	40	40	KRT78	A	1	1
OR6C6	283365	broad.mit.edu	36	12	53975120	53975120	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:53975120G>A	uc001sgt.1	-	c.164C>T	c.(163-165)ACG>ATG	p.T55M		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C,	55	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)	1														0.461538	170.942878	171.093077	54	63	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	53975120	53975120	11604	12	G	A	A	40	40	OR6C6	A	1	1
AVPR1A	552	broad.mit.edu	36	12	61829923	61829923	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:61829923C>T	uc001sro.1	-	c.961G>A	c.(961-963)GTC>ATC	p.V321I		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	321	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0					Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)									0.329032	133.653352	137.679816	51	104	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Missense_Mutation	SNP	61829923	61829923	1252	12	C	T	T	19	19	AVPR1A	T	1	1
GPR12	2835	broad.mit.edu	36	13	26230980	26230980	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr13:26230980G>A	uc010aal.1	-	c.985C>T	c.(985-987)CGC>TGC	p.R329C	GPR12_uc001uqx.1_Missense_Mutation_p.R329C	NM_005288	NP_005279	P47775	GPR12_HUMAN	G protein-coupled receptor 12	329	Cytoplasmic (Potential).					integral to plasma membrane					0	Colorectal(5;5.77e-05)	Breast(139;0.198)												0.47619	92.657097	92.687117	30	33	GG		KEEP	---	---	---	---	capture		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)	Missense_Mutation	SNP	26230980	26230980	6909	13	G	A	A	38	38	GPR12	A	1	1
AHNAK2	113146	broad.mit.edu	36	14	104486183	104486183	+	Missense_Mutation	SNP	A	C	C			TCGA-76-4931-01	TCGA-76-4931-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr14:104486183A>C	uc010axc.1	-	c.6650T>G	c.(6649-6651)GTG>GGG	p.V2217G	AHNAK2_uc001ypx.2_Missense_Mutation_p.V2117G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2217						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)												0.483333	394.903007	394.959988	116	124	AA		KEEP	---	---	---	---	capture	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		Missense_Mutation	SNP	104486183	104486183	418	14	A	C	C	6	6	AHNAK2	C	4	4
ADCY4	196883	broad.mit.edu	36	14	23865206	23865206	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr14:23865206C>T	uc001wov.1	-	c.1574G>A	c.(1573-1575)CGT>CAT	p.R525H	ADCY4_uc001wow.1_Missense_Mutation_p.R525H|ADCY4_uc001wox.1_Missense_Mutation_p.R525H|ADCY4_uc001woy.1_Missense_Mutation_p.R525H	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3										1				0.25974	49.665099	53.690197	20	57	CC		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(265;0.0192)	Missense_Mutation	SNP	23865206	23865206	297	14	C	T	T	19	19	ADCY4	T	1	1
MKRN3	7681	broad.mit.edu	36	15	21362075	21362075	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:21362075C>T	uc001ywh.2	+	c.53C>T	c.(52-54)GCA>GTA	p.A18V	MKRN3_uc010ayi.1_Missense_Mutation_p.A18V|MKRN3_uc001ywi.2_Missense_Mutation_p.A18V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	18						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)								79				0.333333	36.215543	37.319819	15	30	CC		KEEP	---	---	---	---	capture		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	Missense_Mutation	SNP	21362075	21362075	9998	15	C	T	T	25	25	MKRN3	T	2	2
NEO1	4756	broad.mit.edu	36	15	71349593	71349593	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:71349593G>A	uc002avm.2	+	c.2684G>A	c.(2683-2685)TGG>TAG	p.W895*	NEO1_uc002avn.2_Nonsense_Mutation_p.W544*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	neogenin homolog 1	895	Extracellular (Potential).|Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				pancreas(1)	1														0.464789	209.235248	209.388714	66	76	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	71349593	71349593	10735	15	G	A	A	47	47	NEO1	A	5	2
NOMO1	23420	broad.mit.edu	36	16	14876404	14876404	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:14876404G>A	uc002dcv.1	+	c.2065G>A	c.(2065-2067)GAC>AAC	p.D689N	NOMO1_uc010bvb.1_Missense_Mutation_p.D522N	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	nodal modulator 1	689	Extracellular (Potential).					integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			ovary(1)	1														0.493333	234.442877	234.448638	74	76	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14876404	14876404	10934	16	G	A	A	37	37	NOMO1	A	1	1
SCNN1B	6338	broad.mit.edu	36	16	23274289	23274289	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:23274289G>A	uc002dln.1	+	c.754G>A	c.(754-756)GGA>AGA	p.G252R		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	252	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7					Amiloride(DB00594)|Triamterene(DB00384)									0.243902	49.861038	54.761273	20	62	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(48;0.0465)	Missense_Mutation	SNP	23274289	23274289	14410	16	G	A	A	39	39	SCNN1B	A	1	1
ATP2A1	487	broad.mit.edu	36	16	28822241	28822241	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr16:28822241G>A	uc002dro.1	+	c.2959G>A	c.(2959-2961)GTT>ATT	p.V987I	ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	987	Cytoplasmic (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	calcium channel complex|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4														0.285714	41.378326	43.685162	16	40	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	28822241	28822241	1155	16	G	A	A	40	40	ATP2A1	A	1	1
KRT33A	3883	broad.mit.edu	36	17	36760300	36760300	+	Silent	SNP	C	T	T	rs61736449	unknown	TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:36760300C>T	uc002hwk.1	-	c.246G>A	c.(244-246)GCG>GCA	p.A82A		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	82	Coil 1A.|Rod.			A -> T (in Ref. 3; BAG36784).		intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)												0.424658	188.333727	189.054485	62	84	CC		KEEP	---	---	---	---	capture			Silent	SNP	36760300	36760300	8784	17	C	T	T	23	23	KRT33A	T	1	1
DNAH2	146754	broad.mit.edu	36	17	7663101	7663101	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr17:7663101C>T	uc002giu.1	+	c.10810C>T	c.(10810-10812)CGG>TGG	p.R3604W	DNAH2_uc010cnm.1_Missense_Mutation_p.R542W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	3604					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|central_nervous_system(1)	7		all_cancers(10;4.66e-07)|Prostate(122;0.081)												0.423077	28.722526	28.855791	11	15	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7663101	7663101	4785	17	C	T	T	27	27	DNAH2	T	1	1
ZNF516	9658	broad.mit.edu	36	18	72282637	72282637	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr18:72282637G>A	uc010dqx.1	-	c.1362C>T	c.(1360-1362)CGC>CGT	p.R454R	ZNF516_uc002lme.2_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)												0.833333	16.484629	17.109599	5	1	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	Silent	SNP	72282637	72282637	18554	18	G	A	A	38	38	ZNF516	A	1	1
LPHN1	22859	broad.mit.edu	36	19	14133186	14133186	+	Missense_Mutation	SNP	A	C	C			TCGA-76-4931-01	TCGA-76-4931-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:14133186A>C	uc002myg.1	-	c.1463T>G	c.(1462-1464)GTC>GGC	p.V488G	LPHN1_uc002myh.1_Missense_Mutation_p.V483G	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	latrophilin 1 isoform 1 precursor	488	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			ovary(1)|central_nervous_system(1)	2														0.3	7.121613	7.478782	3	7	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	14133186	14133186	9288	19	A	C	C	10	10	LPHN1	C	4	4
BRD4	23476	broad.mit.edu	36	19	15216137	15216137	+	Missense_Mutation	SNP	T	G	G			TCGA-76-4931-01	TCGA-76-4931-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr19:15216137T>G	uc002nar.1	-	c.2486A>C	c.(2485-2487)CAC>CCC	p.H829P		NM_058243	NP_490597	O60885	BRD4_HUMAN	bromodomain-containing protein 4 isoform long	829					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of gene-specific transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			ovary(2)	2										269				0.454545	7.672934	7.703298	5	6	TT		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)		Missense_Mutation	SNP	15216137	15216137	1535	19	T	G	G	59	59	BRD4	G	4	4
COMP	1311	broad.mit.edu	36	19	18761784	18761784	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:18761784C>T	uc002nke.1	-	c.357G>A	c.(355-357)ACG>ACA	p.T119T	COMP_uc002nkd.1_Silent_p.T86T	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	119	EGF-like 1.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0														0.333333	17.445314	17.887468	6	12	CC		KEEP	---	---	---	---	capture			Silent	SNP	18761784	18761784	3862	19	C	T	T	23	23	COMP	T	1	1
DENND1C	79958	broad.mit.edu	36	19	6423910	6423910	+	Missense_Mutation	SNP	A	C	C			TCGA-76-4931-01	TCGA-76-4931-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:6423910A>C	uc002mfe.1	-	c.1148T>G	c.(1147-1149)CTG>CGG	p.L383R	DENND1C_uc002mfb.1_5'UTR|DENND1C_uc002mfc.1_5'UTR|DENND1C_uc002mfd.1_5'UTR	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	383	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1														0.666667	22.353201	22.574727	6	3	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	6423910	6423910	4607	19	A	C	C	7	7	DENND1C	C	4	4
CD209	30835	broad.mit.edu	36	19	7715880	7715880	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:7715880C>T	uc002mht.1	-	c.847G>A	c.(847-849)GCC>ACC	p.A283T	CD209_uc010dvp.1_Missense_Mutation_p.A259T|CD209_uc002mhs.1_Missense_Mutation_p.A213T|CD209_uc002mhq.1_Missense_Mutation_p.A283T|CD209_uc002mhr.1_Missense_Mutation_p.A259T|CD209_uc002mhu.1_Missense_Mutation_p.A191T|CD209_uc010dvq.1_Missense_Mutation_p.A283T|CD209_uc002mhv.1_Missense_Mutation_p.A259T|CD209_uc002mhw.1_Missense_Mutation_p.A147T|CD209_uc002mhx.1_Missense_Mutation_p.A239T|CD209_uc010dvr.1_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	CD209 molecule isoform 1	283	Extracellular (Probable).|C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding				0														0.496296	200.415723	200.417381	67	68	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	7715880	7715880	3111	19	C	T	T	27	27	CD209	T	1	1
GRIN3B	116444	broad.mit.edu	36	19	956285	956285	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:956285C>T	uc002lqo.1	+	c.1785C>T	c.(1783-1785)TAC>TAT	p.Y595Y		NM_138690	NP_619635	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic,	595	Cytoplasmic (Potential).				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)			Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)									0.482759	123.54774	123.569959	42	45	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Silent	SNP	956285	956285	7063	19	C	T	T	19	19	GRIN3B	T	1	1
CHRNB2	1141	broad.mit.edu	36	1	152808672	152808672	+	Nonsense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:152808672C>T	uc001ffg.1	+	c.175C>T	c.(175-177)CAG>TAG	p.Q59*		NM_000748	NP_000739	P17787	ACHB2_HUMAN	neuronal nicotinic acetylcholine receptor beta 2	59	Extracellular (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity				0	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)				Nicotine(DB00184)									0.425	95.01825	95.414248	34	46	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.185)		Nonsense_Mutation	SNP	152808672	152808672	3525	1	C	T	T	17	17	CHRNB2	T	5	2
RYR2	6262	broad.mit.edu	36	1	235722951	235722951	+	Missense_Mutation	SNP	C	A	A			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:235722951C>A	uc001hyl.1	+	c.1902C>A	c.(1900-1902)GAC>GAA	p.D634E		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	634	Cytoplasmic (By similarity).|B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)												0.53125	56.275375	56.302428	17	15	CC		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		Missense_Mutation	SNP	235722951	235722951	14249	1	C	A	A	17	17	RYR2	A	3	3
ZP4	57829	broad.mit.edu	36	1	236117318	236117318	+	Silent	SNP	A	G	G			TCGA-76-4931-01	TCGA-76-4931-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:236117318A>G	uc001hym.1	-	c.720T>C	c.(718-720)ACT>ACC	p.T240T		NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	240	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(1)	1	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)				NSCLC(166;160 2029 11600 18754 19936)								0.397906	269.776769	271.51365	76	115	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Silent	SNP	236117318	236117318	18822	1	A	G	G	3	3	ZP4	G	4	4
C1orf150	148823	broad.mit.edu	36	1	245779117	245779117	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4931-01	TCGA-76-4931-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr1:245779117A>G	uc001idf.1	+	c.1A>G	c.(1-3)ATG>GTG	p.M1V	C1orf150_uc009xgw.1_Intron|C1orf150_uc001ida.2_Non-coding_Transcript|C1orf150_uc001idb.2_Non-coding_Transcript|C1orf150_uc009xgx.1_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	hypothetical protein LOC148823	1											0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)													0.321839	88.074851	90.524425	28	59	AA		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(106;0.0241)		Missense_Mutation	SNP	245779117	245779117	2071	1	A	G	G	12	12	C1orf150	G	4	4
CEP250	11190	broad.mit.edu	36	20	33555702	33555702	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr20:33555702C>G	uc002xcm.1	+	c.6091C>G	c.(6091-6093)CTC>GTC	p.L2031V	CEP250_uc002xcn.1_Missense_Mutation_p.L1975V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2 isoform 1	2031	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)													0.478261	36.823015	36.832508	11	12	CC		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(18;0.0106)		Missense_Mutation	SNP	33555702	33555702	3385	20	C	G	G	32	32	CEP250	G	3	3
CECR2	27443	broad.mit.edu	36	22	16362144	16362144	+	Silent	SNP	C	G	G			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:16362144C>G	uc010gqw.1	+	c.555C>G	c.(553-555)TCC>TCG	p.S185S	CECR2_uc010gqv.1_Silent_p.S64S|CECR2_uc002zml.2_Silent_p.S64S|CECR2_uc002zmm.1_Silent_p.S64S	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	227					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)												0.272727	7.519873	8.032215	3	8	CC		KEEP	---	---	---	---	capture		Lung(27;0.146)	Silent	SNP	16362144	16362144	3339	22	C	G	G	23	23	CECR2	G	3	3
SUSD2	56241	broad.mit.edu	36	22	22909586	22909586	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:22909586C>T	uc002zzn.1	+	c.411C>T	c.(409-411)TCC>TCT	p.S137S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	137	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity				0														0.3875	92.103916	92.992055	31	49	CC		KEEP	---	---	---	---	capture			Silent	SNP	22909586	22909586	15928	22	C	T	T	24	24	SUSD2	T	2	2
CCDC157	550631	broad.mit.edu	36	22	29096543	29096543	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29096543G>A	uc003ahn.1	+	c.496G>A	c.(496-498)GCC>ACC	p.A166T		NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	hypothetical protein LOC550631	217										central_nervous_system(1)	1														0.423841	175.389078	176.147955	64	87	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29096543	29096543	2911	22	G	A	A	42	42	CCDC157	A	2	2
GAL3ST1	9514	broad.mit.edu	36	22	29281178	29281178	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:29281178C>T	uc003aig.1	-	c.1034G>A	c.(1033-1035)TGC>TAC	p.C345Y	GAL3ST1_uc003aih.1_Missense_Mutation_p.C345Y|GAL3ST1_uc003aii.1_Missense_Mutation_p.C345Y|GAL3ST1_uc010gvz.1_Missense_Mutation_p.C345Y	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	345	Lumenal (Potential).				protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity				0														0.567568	58.97712	59.127758	21	16	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	29281178	29281178	6461	22	C	T	T	25	25	GAL3ST1	T	2	2
MFNG	4242	broad.mit.edu	36	22	36212044	36212044	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36212044C>T	uc003ass.1	-	c.118G>A	c.(118-120)GAG>AAG	p.E40K	CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	O-fucosylpeptide	40	Lumenal (Potential).				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.0574)													0.5	90.200576	90.200576	31	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36212044	36212044	9915	22	C	T	T	31	31	MFNG	T	1	1
PRR5-ARHGAP8	553158	broad.mit.edu	36	22	43561080	43561080	+	Silent	SNP	C	G	G			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr22:43561080C>G	uc003bfd.1	+	c.771C>G	c.(769-771)GGC>GGG	p.G257G	PRR5-ARHGAP8_uc003bfc.1_Silent_p.G134G|PRR5-ARHGAP8_uc003bff.1_Silent_p.G39G|PRR5-ARHGAP8_uc003bfg.1_Silent_p.G39G|ARHGAP8_uc003bfi.2_Silent_p.G3G|ARHGAP8_uc010gzv.1_Silent_p.G3G|ARHGAP8_uc003bfj.1_Silent_p.G3G|ARHGAP8_uc003bfk.1_Silent_p.G3G|PRR5-ARHGAP8_uc003bfl.1_Non-coding_Transcript	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2												0														0.214286	7.046949	8.080947	3	11	CC		KEEP	---	---	---	---	capture			Silent	SNP	43561080	43561080	13050	22	C	G	G	26	26	PRR5-ARHGAP8	G	3	3
TTN	7273	broad.mit.edu	36	2	179182273	179182273	+	Nonsense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:179182273G>A	uc002umr.1	-	c.44305C>T	c.(44305-44307)CGA>TGA	p.R14769*	TTN_uc002ums.1_Nonsense_Mutation_p.R8464*|TTN_uc010frc.1_Nonsense_Mutation_p.R8397*|TTN_uc010frd.1_Nonsense_Mutation_p.R8272*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	15696										ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153										8722				0.603448	114.936412	115.480054	35	23	GG		KEEP	---	---	---	---	capture	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		Nonsense_Mutation	SNP	179182273	179182273	17290	2	G	A	A	39	39	TTN	A	5	1
DNMT3A	1788	broad.mit.edu	36	2	25323472	25323472	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:25323472C>T	uc002rgc.1	-	c.1074G>A	c.(1072-1074)ACG>ACA	p.T358T	DNMT3A_uc002rgb.1_Silent_p.T169T|DNMT3A_uc002rgd.1_Silent_p.T358T|DNMT3A_uc010eyi.1_Non-coding_Transcript	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	358	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(107)|ovary(3)	110	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.452381	57.920049	58.003004	19	23	CC		KEEP	---	---	---	---	capture			Silent	SNP	25323472	25323472	4859	2	C	T	T	19	19	DNMT3A	T	1	1
EMILIN1	11117	broad.mit.edu	36	2	27159503	27159503	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27159503G>A	uc002rii.2	+	c.1560G>A	c.(1558-1560)ACG>ACA	p.T520T	EMILIN1_uc010eyq.1_Silent_p.T501T|EMILIN1_uc002rik.2_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	520					cell adhesion	collagen				pancreas(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)													0.470588	23.195487	23.208468	8	9	GG		KEEP	---	---	---	---	capture			Silent	SNP	27159503	27159503	5285	2	G	A	A	39	39	EMILIN1	A	1	1
XDH	7498	broad.mit.edu	36	2	31424702	31424702	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:31424702C>T	uc002rnv.1	-	c.3083G>A	c.(3082-3084)GGC>GAC	p.G1028D		NM_000379	NP_000370	P47989	XDH_HUMAN	xanthine dehydrogenase	1028					oxidation-reduction process|purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	Colon(66;682 1445 30109 40147)								0.347826	66.076014	67.487742	24	45	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31424702	31424702	18007	2	C	T	T	26	26	XDH	T	2	2
SERTAD2	9792	broad.mit.edu	36	2	64717198	64717198	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:64717198C>T	uc002sde.1	-	c.312G>A	c.(310-312)CCG>CCA	p.P104P	SERTAD2_uc010fcu.1_Silent_p.P104P	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	SERTA domain containing 2	104					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus					0														0.529412	104.4972	104.548108	36	32	CC		KEEP	---	---	---	---	capture			Silent	SNP	64717198	64717198	14609	2	C	T	T	27	27	SERTAD2	T	1	1
DCHS2	54798	broad.mit.edu	36	4	155463062	155463062	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:155463062G>A	uc003inw.1	-	c.2682C>T	c.(2680-2682)GAC>GAT	p.D894D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	dachsous 2 isoform 1	894	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|pancreas(1)	4	all_hematologic(180;0.208)	Renal(120;0.0854)												0.3	40.306111	42.092694	15	35	GG		KEEP	---	---	---	---	capture		LUSC - Lung squamous cell carcinoma(193;0.107)	Silent	SNP	155463062	155463062	4459	4	G	A	A	40	40	DCHS2	A	1	1
ZFP42	132625	broad.mit.edu	36	4	189161634	189161634	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:189161634G>A	uc003izg.1	+	c.679G>A	c.(679-681)GTT>ATT	p.V227I	ZFP42_uc003izh.1_Missense_Mutation_p.V227I|ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc010isp.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	zinc finger protein 42	227	C2H2-type 2.				female gonad development|male gonad development|meiosis|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)												0.433333	195.652003	196.233276	65	85	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	Missense_Mutation	SNP	189161634	189161634	18238	4	G	A	A	40	40	ZFP42	A	1	1
PTTG2	10744	broad.mit.edu	36	4	37638458	37638458	+	Missense_Mutation	SNP	C	A	A			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr4:37638458C>A	uc003gtc.1	+	c.8C>A	c.(7-9)ACT>AAT	p.T3N	TBC1D1_uc003gtb.1_Intron|TBC1D1_uc010ifd.1_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	pituitary tumor-transforming 2	3					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding				0														0.181818	8.215316	11.389642	6	27	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	37638458	37638458	13279	4	C	A	A	20	20	PTTG2	A	3	3
PCDHB12	56124	broad.mit.edu	36	5	140570307	140570307	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140570307C>T	uc003liz.1	+	c.1644C>T	c.(1642-1644)CGC>CGT	p.R548R		NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	548	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(1)	1														0.325843	73.445024	75.839759	29	60	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140570307	140570307	11957	5	C	T	T	27	27	PCDHB12	T	1	1
GABRA6	2559	broad.mit.edu	36	5	161045917	161045917	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161045917C>T	uc003lyu.2	+	c.142C>T	c.(142-144)CGG>TGG	p.R48W		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	48	Extracellular (Probable).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			ovary(7)|large_intestine(1)|central_nervous_system(1)	9	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)			Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						TCGA Ovarian(5;0.080)			0.4	158.048826	159.246458	56	84	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	161045917	161045917	6416	5	C	T	T	27	27	GABRA6	T	1	1
PIK3CG	5294	broad.mit.edu	36	7	106295668	106295668	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:106295668G>A	uc003vdv.2	+	c.426G>A	c.(424-426)CCG>CCA	p.P142P	PIK3CG_uc003vdu.1_Silent_p.P142P|PIK3CG_uc003vdw.1_Silent_p.P142P	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	142					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(8)|lung(7)|pancreas(3)|ovary(2)|skin(1)	21										292				0.391304	68.214961	68.925626	27	42	GG		KEEP	---	---	---	---	capture			Silent	SNP	106295668	106295668	12340	7	G	A	A	38	38	PIK3CG	A	1	1
MICALL2	79778	broad.mit.edu	36	7	1451557	1451557	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:1451557C>T	uc003skj.2	-	c.675G>A	c.(673-675)GGG>GGA	p.G225G	MICALL2_uc003ski.2_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	225	LIM zinc-binding.					cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)												0.285714	10.094271	10.671179	4	10	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	Silent	SNP	1451557	1451557	9964	7	C	T	T	22	22	MICALL2	T	2	2
CARD11	84433	broad.mit.edu	36	7	2950673	2950673	+	Missense_Mutation	SNP	G	C	C			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:2950673G>C	uc003smv.2	-	c.383C>G	c.(382-384)ACG>AGG	p.T128R		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	128					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T121M(2)		haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|central_nervous_system(1)	48		Ovarian(82;0.0115)								1492				0.259259	134.696655	144.612432	49	140	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	Missense_Mutation	SNP	2950673	2950673	2764	7	G	C	C	40	40	CARD11	C	3	3
EGFR	1956	broad.mit.edu	36	7	55200537	55200537	+	Missense_Mutation	SNP	G	T	T			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr7:55200537G>T	uc003tqk.1	+	c.1793G>T	c.(1792-1794)GGA>GTA	p.G598V	EGFR_uc003tqi.1_Missense_Mutation_p.G598V|EGFR_uc003tqj.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc003tqn.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	598	Approximate.|Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(16)		lung(8200)|central_nervous_system(103)|upper_aerodigestive_tract(37)|prostate(32)|ovary(31)|thyroid(23)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|stomach(6)|urinary_tract(6)|skin(5)|adrenal_gland(5)|kidney(4)|soft_tissue(4)|bone(3)|NS(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)|pancreas(1)	8515	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)				Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)			8		608	TCGA GBM(3;<1E-8)|TSP Lung(4;<1E-8)			0.952917	2989.230817	3098.88201	931	46	GG		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Missense_Mutation	SNP	55200537	55200537	5156	7	G	T	T	41	41	EGFR	T	3	3
ADAM2	2515	broad.mit.edu	36	8	39732575	39732575	+	Silent	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:39732575G>A	uc003xnj.1	-	c.1626C>T	c.(1624-1626)TGC>TGT	p.C542C	ADAM2_uc003xnk.1_Silent_p.C523C|ADAM2_uc003xnl.1_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	542	Extracellular (Potential).|Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)												0.402685	170.762327	171.99831	60	89	GG		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	Silent	SNP	39732575	39732575	242	8	G	A	A	38	38	ADAM2	A	1	1
LMX1B	4010	broad.mit.edu	36	9	128493157	128493157	+	Missense_Mutation	SNP	A	G	G			TCGA-76-4931-01	TCGA-76-4931-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr9:128493157A>G	uc004bqj.2	+	c.479A>G	c.(478-480)GAG>GGG	p.E160G	LMX1B_uc004bqi.2_Missense_Mutation_p.E160G	NM_002316	NP_002307	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	160					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity|zinc ion binding				0						Pancreas(110;1796 2278 18357 20466)								0.272727	18.140442	19.164491	6	16	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	128493157	128493157	9191	9	A	G	G	11	11	LMX1B	G	4	4
ASB9	140462	broad.mit.edu	36	X	15176910	15176910	+	Nonsense_Mutation	SNP	C	A	A			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:15176910C>A	uc004cwl.1	-	c.637G>T	c.(637-639)GAG>TAG	p.E213*	ASB9_uc004cwk.1_Nonsense_Mutation_p.E213*|ASB9_uc004cwm.1_Nonsense_Mutation_p.E203*|ASB9_uc010ner.1_Nonsense_Mutation_p.E213*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E184*	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box-containing 9 isoform	213	ANK 6.				intracellular signal transduction						0	Hepatocellular(33;0.183)													0.407186	180.730219	181.996198	68	99	CC		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	15176910	15176910	1048	23	C	A	A	32	32	ASB9	A	5	3
HCFC1	3054	broad.mit.edu	36	X	152889320	152889320	+	Missense_Mutation	SNP	C	G	G			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:152889320C>G	uc004fjp.1	-	c.166G>C	c.(166-168)GTG>CTG	p.V56L	TMEM187_uc004fjq.2_5'Flank	NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	56	Kelch 1.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)													0.361111	85.833494	87.054615	26	46	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	152889320	152889320	7273	23	C	G	G	20	20	HCFC1	G	3	3
GYG2	8908	broad.mit.edu	36	X	2809104	2809104	+	Silent	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:2809104C>T	uc004cqs.1	+	c.1356C>T	c.(1354-1356)GCC>GCT	p.A452A	GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc004cqx.1_Silent_p.A350A|GYG2_uc010ndc.1_Silent_p.A230A	NM_003918	NP_003909	O15488	GLYG2_HUMAN	glycogenin 2 isoform b	452					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			ovary(1)|kidney(1)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)												0.62069	60.262172	60.636333	18	11	CC		KEEP	---	---	---	---	capture			Silent	SNP	2809104	2809104	7186	23	C	T	T	23	23	GYG2	T	1	1
RBM3	5935	broad.mit.edu	36	X	48319872	48319872	+	Missense_Mutation	SNP	T	G	G			TCGA-76-4931-01	TCGA-76-4931-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chrX:48319872T>G	uc004dkf.1	+	c.349T>G	c.(349-351)TAT>GAT	p.Y117D	RBM3_uc004dkd.1_Non-coding_Transcript|RBM3_uc004dkg.2_Missense_Mutation_p.Y117D	NM_006743	NP_006734	P98179	RBM3_HUMAN	RNA binding motif protein 3	117	Gly-rich.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1														0.235294	6.589344	7.682056	4	13	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	48319872	48319872	13591	23	T	G	G	57	57	RBM3	G	4	4
APEX2	27301	broad.mit.edu	36	X	55049700	55049700	+	Missense_Mutation	SNP	C	T	T			TCGA-76-4931-01	TCGA-76-4931-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chrX:55049700C>T	uc004dtz.1	+	c.664C>T	c.(664-666)CGC>TGC	p.R222C		NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	apurinic/apyrimidinic endonuclease 2	222					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding				0														0.326087	39.89288	41.135996	15	31	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	55049700	55049700	780	23	C	T	T	27	27	APEX2	T	1	1
ACRC	93953	broad.mit.edu	36	X	70747330	70747330	+	Missense_Mutation	SNP	G	A	A			TCGA-76-4931-01	TCGA-76-4931-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chrX:70747330G>A	uc004eae.1	+	c.1686G>A	c.(1684-1686)ATG>ATA	p.M562I		NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	ACRC protein	562						nucleus				ovary(3)	3	Renal(35;0.156)													0.6	88.349164	88.784619	30	20	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	70747330	70747330	172	23	G	A	A	48	48	ACRC	A	2	2
SMG1	23049	broad.mit.edu	36	16	18844811	18844813	+	In_Frame_Del	DEL	GCC	-	-			TCGA-76-4931-01	TCGA-76-4931-01										Phase_I	Unspecified				Illumina GAIIx	g.chr16:18844811_18844813delGCC	uc002dfm.1	-	c.52_54delGGC	c.(52-54)GGCdel	p.G18del		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	18					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|lung(4)|kidney(2)|stomach(1)|ovary(1)	13										1101				0.33			2	4				---	---	---	---	capture_indel			In_Frame_Del	DEL	18844811	18844813	15293	16	GCC	-	-	46	46	SMG1	-	5	5
