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
SEMA4G	57715	broad.mit.edu	36	10	102733314	102733314	+	Silent	SNP	G	C	C			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:102733314G>C	uc001krw.1	+	c.1968G>C	c.(1966-1968)CGG>CGC	p.R656R	SEMA4G_uc001krv.2_Non-coding_Transcript|SEMA4G_uc001krx.2_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	semaphorin 4G	651	Extracellular (Potential).				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)	1		Colorectal(252;0.234)												0.5	6.748515	6.748515	4	4	GG		KEEP	---	---	---	---	capture		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	Silent	SNP	102733314	102733314	14522	10	G	C	C	42	42	SEMA4G	C	3	3
MAT1A	4143	broad.mit.edu	36	10	82024770	82024770	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:82024770G>A	uc001kbw.1	-	c.934C>T	c.(934-936)CGG>TGG	p.R312W		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	312					cellular amino acid metabolic process|methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)									0.666667	13.201809	13.349391	4	2	GG		KEEP	---	---	---	---	capture	Colorectal(32;0.229)		Missense_Mutation	SNP	82024770	82024770	9713	10	G	A	A	39	39	MAT1A	A	1	1
PTEN	5728	broad.mit.edu	36	10	89682903	89682903	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr10:89682903G>A	uc001kfb.1	+	c.407G>A	c.(406-408)TGT>TAT	p.C136Y		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		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.C136Y(7)|p.C136F(3)|p.C136fs*1(2)|p.Y27_N212>Y(2)|p.I135_A137>T(1)|p.T131fs*42(1)|p.I135fs*6(1)|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	p.C136Y(MDAMB415-Tumor)	264	TCGA GBM(2;<1E-8)|TSP Lung(26;0.18)			0.731092	275.264476	280.994255	87	32	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)	Missense_Mutation	SNP	89682903	89682903	13192	10	G	A	A	48	48	PTEN	A	2	2
TECTA	7007	broad.mit.edu	36	11	120533887	120533887	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr11:120533887G>A	uc001pxr.1	+	c.4433G>A	c.(4432-4434)GGC>GAC	p.G1478D		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1478					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)	8	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)												0.467391	124.463285	124.542648	43	49	GG		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	Missense_Mutation	SNP	120533887	120533887	16274	11	G	A	A	42	42	TECTA	A	2	2
PRDM10	56980	broad.mit.edu	36	11	129306320	129306320	+	Missense_Mutation	SNP	T	G	G			TCGA-27-2526-01	TCGA-27-2526-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr11:129306320T>G	uc001qfm.1	-	c.1331A>C	c.(1330-1332)GAA>GCA	p.E444A	PRDM10_uc001qfn.1_Missense_Mutation_p.E444A|PRDM10_uc009zct.1_Missense_Mutation_p.E476A|PRDM10_uc001qfj.1_Missense_Mutation_p.E358A|PRDM10_uc001qfk.1_Missense_Mutation_p.E358A|PRDM10_uc001qfl.1_Missense_Mutation_p.E358A	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)												0.123596	10.568563	22.902046	11	78	TT		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	Missense_Mutation	SNP	129306320	129306320	12893	11	T	G	G	62	62	PRDM10	G	4	4
OR9G4	283189	broad.mit.edu	36	11	56267379	56267379	+	Missense_Mutation	SNP	C	A	A			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr11:56267379C>A	uc001nje.1	-	c.485G>T	c.(484-486)GGC>GTC	p.G162V		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G,	162	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2														0.35503	163.985113	167.099885	60	109	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	56267379	56267379	11662	11	C	A	A	26	26	OR9G4	A	3	3
CUX2	23316	broad.mit.edu	36	12	110218672	110218672	+	Missense_Mutation	SNP	C	A	A			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr12:110218672C>A	uc001tsa.1	+	c.650C>A	c.(649-651)ACG>AAG	p.T217K		NM_015267	NP_056082	O14529	CUX2_HUMAN	cut-like 2	217	Potential.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4														0.166667	6.49933	9.017124	4	20	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110218672	110218672	4225	12	C	A	A	19	19	CUX2	A	3	3
PLBD2	196463	broad.mit.edu	36	12	112310020	112310020	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr12:112310020G>A	uc001tve.1	+	c.1528G>A	c.(1528-1530)GAC>AAC	p.D510N	PLBD2_uc001tvf.1_Missense_Mutation_p.D478N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	mannose-6-phosphate protein p76	510					lipid catabolic process	lysosomal lumen	hydrolase activity				0														0.424936	468.456128	470.384157	167	226	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	112310020	112310020	12452	12	G	A	A	37	37	PLBD2	A	1	1
LRIG3	121227	broad.mit.edu	36	12	57556518	57556518	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2526-01	TCGA-27-2526-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr12:57556518A>G	uc001sqr.1	-	c.2671T>C	c.(2671-2673)TTC>CTC	p.F891L	LRIG3_uc009zqh.1_Missense_Mutation_p.F831L	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like	891						integral to membrane				ovary(1)|skin(1)	2														0.393939	82.82322	83.476595	26	40	AA		KEEP	---	---	---	---	capture	GBM - Glioblastoma multiforme(1;1.17e-18)		Missense_Mutation	SNP	57556518	57556518	9319	12	A	G	G	1	1	LRIG3	G	4	4
CKMT1B	1159	broad.mit.edu	36	15	41678717	41678717	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:41678717G>A	uc001zsc.1	+	c.1208G>A	c.(1207-1209)GGC>GAC	p.G403D	PPIP5K1_uc001zsa.2_Intron|CKMT1B_uc001zsd.2_Missense_Mutation_p.G403D|CKMT1B_uc010bdj.1_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B precursor	403					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity				0		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)			Creatine(DB00148)									0.39267	204.269358	206.199642	75	116	GG		KEEP	---	---	---	---	capture		GBM - Glioblastoma multiforme(94;3.56e-07)	Missense_Mutation	SNP	41678717	41678717	3586	15	G	A	A	42	42	CKMT1B	A	2	2
FBN1	2200	broad.mit.edu	36	15	46547984	46547984	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr15:46547984C>T	uc001zwx.1	-	c.4499G>A	c.(4498-4500)GGG>GAG	p.G1500E	FBN1_uc010beo.1_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1500	EGF-like 26; 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				0.385542	96.083864	97.035734	32	51	CC		KEEP	---	---	---	---	capture		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	Missense_Mutation	SNP	46547984	46547984	5938	15	C	T	T	22	22	FBN1	T	2	2
IGF1R	3480	broad.mit.edu	36	15	97068531	97068531	+	Silent	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr15:97068531G>A	uc002bul.1	+	c.312G>A	c.(310-312)ACG>ACA	p.T104T	IGF1R_uc010bon.1_Silent_p.T104T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	104					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	integral to plasma membrane|microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)				Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)					471				0.4375	63.568498	63.731824	21	27	GG		KEEP	---	---	---	---	capture	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Silent	SNP	97068531	97068531	7872	15	G	A	A	39	39	IGF1R	A	1	1
RLTPR	146206	broad.mit.edu	36	16	66238566	66238566	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr16:66238566C>T	uc002etn.1	+	c.658C>T	c.(658-660)CGG>TGG	p.R220W	RLTPR_uc010cel.1_Missense_Mutation_p.R220W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin	220										breast(1)	1		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)												0.385965	63.939796	64.587557	22	35	CC		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	Missense_Mutation	SNP	66238566	66238566	13871	16	C	T	T	23	23	RLTPR	T	1	1
PTPRM	5797	broad.mit.edu	36	18	8242488	8242488	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr18:8242488C>T	uc010dkv.1	+	c.2557C>T	c.(2557-2559)CCA>TCA	p.P853S	PTPRM_uc002knn.2_Intron	NM_001105244	NP_001098714	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	842	Cytoplasmic (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(1)|central_nervous_system(1)	5		Colorectal(10;0.234)												0.371429	111.494291	113.020662	39	66	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8242488	8242488	13263	18	C	T	T	26	26	PTPRM	T	2	2
NWD1	284434	broad.mit.edu	36	19	16735718	16735718	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2526-01	TCGA-27-2526-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr19:16735718A>G	uc002net.2	+	c.1808A>G	c.(1807-1809)CAC>CGC	p.H603R	NWD1_uc002neu.2_Missense_Mutation_p.H738R|NWD1_uc002nev.2_Missense_Mutation_p.H532R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	738							ATP binding			ovary(2)|pancreas(2)	4														0.38835	119.184309	120.30608	40	63	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	16735718	16735718	11186	19	A	G	G	6	6	NWD1	G	4	4
EML2	24139	broad.mit.edu	36	19	50829560	50829560	+	Nonsense_Mutation	SNP	G	T	T			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:50829560G>T	uc002pcq.1	-	c.792C>A	c.(790-792)TAC>TAA	p.Y264*	EML2_uc002pcn.1_Nonsense_Mutation_p.Y63*|EML2_uc002pco.1_Non-coding_Transcript|EML2_uc002pcp.1_Intron|EML2_uc010ekj.1_Nonsense_Mutation_p.Y63*|EML2_uc010ekk.1_5'Flank	NM_012155	NP_036287	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like	63					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			large_intestine(1)|ovary(1)	2		Ovarian(192;0.179)|all_neural(266;0.224)												0.333333	7.470659	7.778808	4	8	GG		KEEP	---	---	---	---	capture		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	Nonsense_Mutation	SNP	50829560	50829560	5289	19	G	T	T	44	44	EML2	T	5	3
ZBTB45	84878	broad.mit.edu	36	19	63720542	63720542	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr19:63720542G>A	uc002qtd.1	-	c.311C>T	c.(310-312)ACG>ATG	p.T104M	ZBTB45_uc002qte.1_Missense_Mutation_p.T104M|ZBTB45_uc002qtf.1_Missense_Mutation_p.T104M	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)				NSCLC(164;1383 2017 5233 27540 46677)						OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0.380952	116.731147	118.015298	40	65	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	Missense_Mutation	SNP	63720542	63720542	18133	19	G	A	A	40	40	ZBTB45	A	1	1
MUC16	94025	broad.mit.edu	36	19	8882119	8882119	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr19:8882119C>T	uc002mkp.1	-	c.37204G>A	c.(37204-37206)GGG>AGG	p.G12402R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12404	Extracellular (Potential).|SEA 3.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			ovary(15)|large_intestine(1)|pancreas(1)|breast(1)|skin(1)	19														0.46	213.65675	213.866109	69	81	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	8882119	8882119	10367	19	C	T	T	21	21	MUC16	T	2	2
CELSR2	1952	broad.mit.edu	36	1	109597522	109597522	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr1:109597522G>A	uc001dxa.2	+	c.3298G>A	c.(3298-3300)GTG>ATG	p.V1100M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1100	Cadherin 9.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of gene-specific transcription|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(3)	3		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)				NSCLC(158;1285 2011 34800 34852 42084)								0.42	59.87009	60.14823	21	29	GG		KEEP	---	---	---	---	capture		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	Missense_Mutation	SNP	109597522	109597522	3355	1	G	A	A	40	40	CELSR2	A	1	1
PRAMEF2	65122	broad.mit.edu	36	1	12842416	12842416	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:12842416C>T	uc001aum.1	+	c.569C>T	c.(568-570)ACG>ATG	p.T190M		NM_023014	NP_075390	O60811	PRAM2_HUMAN	PRAME family member 2	190											0	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)												0.373406	591.836307	599.562109	205	344	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	Missense_Mutation	SNP	12842416	12842416	12872	1	C	T	T	19	19	PRAMEF2	T	1	1
HRNR	388697	broad.mit.edu	36	1	150457818	150457818	+	Missense_Mutation	SNP	C	G	G			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:150457818C>G	uc001ezt.1	-	c.2911G>C	c.(2911-2913)GAA>CAA	p.E971Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	971	11.				keratinization		calcium ion binding|protein binding			ovary(1)	1	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)													0.34375	464.033571	472.988347	143	273	CC		KEEP	---	---	---	---	capture	LUSC - Lung squamous cell carcinoma(543;0.206)		Missense_Mutation	SNP	150457818	150457818	7653	1	C	G	G	31	31	HRNR	G	3	3
ATP13A2	23400	broad.mit.edu	36	1	17190839	17190839	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:17190839C>T	uc001baa.1	-	c.2228G>A	c.(2227-2229)CGC>CAC	p.R743H	ATP13A2_uc001azz.1_5'Flank|ATP13A2_uc001bab.1_Missense_Mutation_p.R738H|ATP13A2_uc001bac.1_Missense_Mutation_p.R738H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	ATPase type 13A2 isoform 1	743	Cytoplasmic (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)												0.411765	219.640099	220.911205	77	110	CC		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Missense_Mutation	SNP	17190839	17190839	1143	1	C	T	T	27	27	ATP13A2	T	1	1
WDR78	79819	broad.mit.edu	36	1	67074038	67074038	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr1:67074038C>T	uc001dcx.1	-	c.1592G>A	c.(1591-1593)CGT>CAT	p.R531H	WDR78_uc009waw.1_Missense_Mutation_p.R277H|WDR78_uc009wax.1_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	WD repeat domain 78 isoform 1	531										ovary(2)	2														0.361963	159.835972	162.54453	59	104	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	67074038	67074038	17901	1	C	T	T	19	19	WDR78	T	1	1
SYCP2	10388	broad.mit.edu	36	20	57904949	57904949	+	Silent	SNP	A	G	G			TCGA-27-2526-01	TCGA-27-2526-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr20:57904949A>G	uc002yaz.1	-	c.1434T>C	c.(1432-1434)TCT>TCC	p.S478S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	478					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			ovary(3)	3	all_lung(29;0.00344)													0.295775	116.589561	121.89081	42	100	AA		KEEP	---	---	---	---	capture	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		Silent	SNP	57904949	57904949	15953	20	A	G	G	7	7	SYCP2	G	4	4
SFRS15	57466	broad.mit.edu	36	21	31966473	31966473	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr21:31966473C>T	uc002ypd.1	-	c.2554G>A	c.(2554-2556)GCC>ACC	p.A852T	SFRS15_uc002ype.1_Missense_Mutation_p.A830T|SFRS15_uc010glu.1_Missense_Mutation_p.A837T	NM_020706	NP_065757	O95104	SFR15_HUMAN	splicing factor, arginine/serine-rich 15 isoform	852						nucleus	nucleotide binding|RNA binding				0														0.220779	75.895441	86.931632	34	120	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	31966473	31966473	14661	21	C	T	T	27	27	SFRS15	T	1	1
MFNG	4242	broad.mit.edu	36	22	36202958	36202958	+	Missense_Mutation	SNP	A	C	C			TCGA-27-2526-01	TCGA-27-2526-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr22:36202958A>C	uc003ass.1	-	c.569T>G	c.(568-570)GTA>GGA	p.V190G		NM_002405	NP_002396	O00587	MFNG_HUMAN	O-fucosylpeptide	190	Lumenal (Potential).				pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.0574)													0.2	6.68943	8.364281	4	16	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	36202958	36202958	9915	22	A	C	C	14	14	MFNG	C	4	4
NDUFA10	4705	broad.mit.edu	36	2	240593331	240593331	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:240593331C>T	uc010fzc.1	-	c.949G>A	c.(949-951)GAC>AAC	p.D317N	NDUFA10_uc002vyn.1_Missense_Mutation_p.D287N	NM_004544	NP_004535	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	287					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)			NADH(DB00157)									0.380952	208.775178	211.116537	72	117	CC		KEEP	---	---	---	---	capture		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	Missense_Mutation	SNP	240593331	240593331	10659	2	C	T	T	30	30	NDUFA10	T	2	2
GPC1	2817	broad.mit.edu	36	2	241054167	241054167	+	Silent	SNP	G	C	C			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr2:241054167G>C	uc002vyw.2	+	c.1464G>C	c.(1462-1464)TCG>TCC	p.S488S		NM_002081	NP_002072	P35052	GPC1_HUMAN	glypican 1 precursor	488					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)												0.466667	11.510433	11.533	7	8	GG		KEEP	---	---	---	---	capture		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)	Silent	SNP	241054167	241054167	6871	2	G	C	C	39	39	GPC1	C	3	3
SLC5A6	8884	broad.mit.edu	36	2	27279246	27279246	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr2:27279246C>T	uc002rjd.1	-	c.1214G>A	c.(1213-1215)GGC>GAC	p.G405D	SLC5A6_uc010eyv.1_Missense_Mutation_p.G405D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium-dependent	405	Helical; (Potential).				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)									0.385714	235.457	237.849518	81	129	CC		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	27279246	27279246	15166	2	C	T	T	26	26	SLC5A6	T	2	2
SLC1A4	6509	broad.mit.edu	36	2	65091356	65091356	+	Missense_Mutation	SNP	A	G	G			TCGA-27-2526-01	TCGA-27-2526-01	A	A								Phase_I	Unspecified				Illumina GAIIx	g.chr2:65091356A>G	uc002sdg.1	+	c.755A>G	c.(754-756)AAT>AGT	p.N252S	SLC1A4_uc010fcv.1_Missense_Mutation_p.N252S|SLC1A4_uc002sdh.1_Missense_Mutation_p.N32S	NM_003038	NP_003029	P43007	SATT_HUMAN	solute carrier family 1, member 4 isoform 1	252					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	integral to plasma membrane|intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(1)	1					L-Alanine(DB00160)									0.420213	266.700451	267.743072	79	109	AA		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	65091356	65091356	14930	2	A	G	G	4	4	SLC1A4	G	4	4
DPPA2	151871	broad.mit.edu	36	3	110509571	110509571	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr3:110509571G>A	uc003dxo.1	-	c.656C>T	c.(655-657)TCT>TTT	p.S219F	DPPA2_uc003dxp.1_Missense_Mutation_p.S219F	NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	219						nucleus	nucleic acid binding			ovary(2)	2														0.4375	110.513193	110.785751	35	45	GG		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	110509571	110509571	4918	3	G	A	A	33	33	DPPA2	A	2	2
CD200R1L	344807	broad.mit.edu	36	3	114029160	114029160	+	Silent	SNP	T	C	C			TCGA-27-2526-01	TCGA-27-2526-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr3:114029160T>C	uc003dzi.1	-	c.174A>G	c.(172-174)GCA>GCG	p.A58A	CD200R1L_uc010hqf.1_Silent_p.A37A	NM_001008784	NP_001008784	Q6Q8B3	MO2R2_HUMAN	CD200 cell surface glycoprotein receptor 2	58	Ig-like V-type.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)	1														0.452055	314.508366	314.945389	99	120	TT		KEEP	---	---	---	---	capture			Silent	SNP	114029160	114029160	3109	3	T	C	C	51	51	CD200R1L	C	4	4
HGFAC	3083	broad.mit.edu	36	4	3420816	3420816	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:3420816G>A	uc010icw.1	+	c.1861G>A	c.(1861-1863)GGC>AGC	p.G621S	HGFAC_uc003ghc.1_Missense_Mutation_p.G614S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	HGF activator preproprotein	614	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(2)	2														0.325397	115.457103	118.852285	41	85	GG		KEEP	---	---	---	---	capture		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Missense_Mutation	SNP	3420816	3420816	7370	4	G	A	A	39	39	HGFAC	A	1	1
RBM47	54502	broad.mit.edu	36	4	40134597	40134597	+	Silent	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr4:40134597G>A	uc003gvc.2	-	c.1071C>T	c.(1069-1071)TAC>TAT	p.Y357Y	RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gvg.1_Silent_p.Y357Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	RNA binding motif protein 47 isoform a	357						nucleus	nucleotide binding|RNA binding			breast(3)	3														0.447761	82.921842	83.08307	30	37	GG		KEEP	---	---	---	---	capture			Silent	SNP	40134597	40134597	13603	4	G	A	A	40	40	RBM47	A	1	1
DNAH5	1767	broad.mit.edu	36	5	13929806	13929806	+	Missense_Mutation	SNP	T	A	A			TCGA-27-2526-01	TCGA-27-2526-01	T	T								Phase_I	Unspecified				Illumina GAIIx	g.chr5:13929806T>A	uc003jfd.2	-	c.3383A>T	c.(3382-3384)AAC>ATC	p.N1128I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1128	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|breast(1)|central_nervous_system(1)|pancreas(1)	17	Lung NSC(4;0.00476)													0.354167	142.084859	144.783508	51	93	TT		KEEP	---	---	---	---	capture			Missense_Mutation	SNP	13929806	13929806	4787	5	T	A	A	60	60	DNAH5	A	4	4
PCDHB7	56129	broad.mit.edu	36	5	140534499	140534499	+	Silent	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:140534499C>T	uc003lit.1	+	c.1899C>T	c.(1897-1899)CGC>CGT	p.R633R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	633	Cadherin 6.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)|central_nervous_system(1)	4														0.255814	78.431397	85.397336	33	96	CC		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		Silent	SNP	140534499	140534499	11967	5	C	T	T	27	27	PCDHB7	T	1	1
SH3TC2	79628	broad.mit.edu	36	5	148388177	148388177	+	Missense_Mutation	SNP	G	C	C			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:148388177G>C	uc003lpu.1	-	c.1311C>G	c.(1309-1311)GAC>GAG	p.D437E	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.1_Missense_Mutation_p.D81E|SH3TC2_uc003lps.1_Non-coding_Transcript|SH3TC2_uc003lpt.1_5'UTR|SH3TC2_uc010jgx.1_Missense_Mutation_p.D430E|SH3TC2_uc003lpv.1_5'UTR	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	437							binding			ovary(2)	2														0.375	145.947191	147.592654	45	75	GG		KEEP	---	---	---	---	capture	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Missense_Mutation	SNP	148388177	148388177	14754	5	G	C	C	48	48	SH3TC2	C	3	3
GABRB2	2561	broad.mit.edu	36	5	160694336	160694336	+	Splice_Site_SNP	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:160694336C>T	uc003lys.1	-	c.832_splice	c.e8+1	p.G278_splice	GABRB2_uc003lyr.1_Splice_Site_SNP_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_SNP_p.G278_splice|GABRB2_uc010jiu.1_Splice_Site_SNP_p.G215_splice	NM_021911	NP_068711			gamma-aminobutyric acid (GABA) A receptor, beta						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity				0	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)			Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)									0.516667	190.081693	190.112704	62	58	CC		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Splice_Site_SNP	SNP	160694336	160694336	6418	5	C	T	T	18	18	GABRB2	T	5	2
GABRA6	2559	broad.mit.edu	36	5	161049937	161049937	+	Missense_Mutation	SNP	G	A	A			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr5:161049937G>A	uc003lyu.2	+	c.826G>A	c.(826-828)GGG>AGG	p.G276R	GABRA6_uc003lyv.2_Missense_Mutation_p.G47R	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid A receptor, alpha 6	276	Helical; (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)			0.452381	304.899898	305.314506	95	115	GG		KEEP	---	---	---	---	capture	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Missense_Mutation	SNP	161049937	161049937	6416	5	G	A	A	47	47	GABRA6	A	2	2
C6	729	broad.mit.edu	36	5	41221956	41221956	+	Silent	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr5:41221956C>T	uc003jml.1	-	c.726G>A	c.(724-726)CCG>CCA	p.P242P	C6_uc003jmk.2_Silent_p.P233P	NM_001115131	NP_001108603	P13671	CO6_HUMAN	complement component 6 precursor	233	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			ovary(3)|central_nervous_system(2)	5		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)												0.304054	127.325623	132.3924	45	103	CC		KEEP	---	---	---	---	capture			Silent	SNP	41221956	41221956	2416	5	C	T	T	23	23	C6	T	1	1
SIM1	6492	broad.mit.edu	36	6	100948351	100948351	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:100948351C>T	uc003pqj.2	-	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T	SIM1_uc010kct.1_Missense_Mutation_p.A435T|SIM1_uc010kcu.1_Missense_Mutation_p.A435T	NM_005068	NP_005059	P81133	SIM1_HUMAN	single-minded homolog 1	435	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)												0.395161	132.161519	133.348203	49	75	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.0774)	Missense_Mutation	SNP	100948351	100948351	14818	6	C	T	T	27	27	SIM1	T	1	1
DNAH8	1769	broad.mit.edu	36	6	38858787	38858787	+	Silent	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:38858787C>T	uc003ooe.1	+	c.1638C>T	c.(1636-1638)GAC>GAT	p.D546D		NM_001371	NP_001362	Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy polypeptide 8	546					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(5)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	17										2979				0.420635	154.751139	155.444213	53	73	CC		KEEP	---	---	---	---	capture			Silent	SNP	38858787	38858787	4790	6	C	T	T	19	19	DNAH8	T	1	1
MANEA	79694	broad.mit.edu	36	6	96160461	96160461	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr6:96160461C>T	uc003poo.1	+	c.848C>T	c.(847-849)ACC>ATC	p.T283I		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	283	Catalytic (Probable).|Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)												0.35	170.841485	174.427471	63	117	CC		KEEP	---	---	---	---	capture		BRCA - Breast invasive adenocarcinoma(108;0.148)	Missense_Mutation	SNP	96160461	96160461	9604	6	C	T	T	18	18	MANEA	T	2	2
LAMB4	22798	broad.mit.edu	36	7	107532259	107532259	+	Silent	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:107532259C>T	uc010ljo.1	-	c.912G>A	c.(910-912)CCG>CCA	p.P304P	LAMB4_uc003vey.2_Silent_p.P304P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4	304	Laminin EGF-like 1.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)	7														0.19432	284.761652	343.07881	130	539	CC		KEEP	---	---	---	---	capture			Silent	SNP	107532259	107532259	8936	7	C	T	T	31	31	LAMB4	T	1	1
CALCR	799	broad.mit.edu	36	7	92946656	92946656	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:92946656C>T	uc003umv.1	-	c.205G>A	c.(205-207)GCA>ACA	p.A69T	CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003umu.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	NM_001742	NP_001733	P30988	CALCR_HUMAN	calcitonin receptor	51	Extracellular (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding			ovary(3)|lung(1)|pancreas(1)	5	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)				Salmon Calcitonin(DB00017)									0.194226	294.731341	361.235325	148	614	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.000244)		Missense_Mutation	SNP	92946656	92946656	2695	7	C	T	T	25	25	CALCR	T	2	2
TMEM130	222865	broad.mit.edu	36	7	98295739	98295739	+	Missense_Mutation	SNP	C	T	T			TCGA-27-2526-01	TCGA-27-2526-01	C	C								Phase_I	Unspecified				Illumina GAIIx	g.chr7:98295739C>T	uc003upo.1	-	c.550G>A	c.(550-552)GGG>AGG	p.G184R	TMEM130_uc003upm.1_Missense_Mutation_p.G184R|TMEM130_uc003upn.1_Missense_Mutation_p.G82R	NM_152913	NP_690877	Q8N3G9	TM130_HUMAN	transmembrane protein 130 isoform b	184	Extracellular (Potential).|PKD.					Golgi membrane|integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)													0.194805	35.189054	41.87097	15	62	CC		KEEP	---	---	---	---	capture	STAD - Stomach adenocarcinoma(171;0.215)		Missense_Mutation	SNP	98295739	98295739	16574	7	C	T	T	23	23	TMEM130	T	1	1
CSMD3	114788	broad.mit.edu	36	8	113489767	113489767	+	Nonsense_Mutation	SNP	G	T	T			TCGA-27-2526-01	TCGA-27-2526-01	G	G								Phase_I	Unspecified				Illumina GAIIx	g.chr8:113489767G>T	uc003ynu.1	-	c.5561C>A	c.(5560-5562)TCA>TAA	p.S1854*	CSMD3_uc003ynt.1_Nonsense_Mutation_p.S1814*|CSMD3_uc003ynv.1_Nonsense_Mutation_p.S1713*|CSMD3_uc003yns.1_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1854	Extracellular (Potential).|CUB 10.					integral to membrane|plasma membrane				ovary(20)|lung(11)|kidney(8)|large_intestine(6)|skin(3)|central_nervous_system(2)|urinary_tract(1)|breast(1)	52										2888	TCGA Ovarian(7;0.080)			0.311628	177.92963	184.732515	67	148	GG		KEEP	---	---	---	---	capture			Nonsense_Mutation	SNP	113489767	113489767	4087	8	G	T	T	45	45	CSMD3	T	5	3
